diff --git a/babelon/hp-it.babelon.tsv b/babelon/hp-it.babelon.tsv index 9a03599..cb2cfae 100644 --- a/babelon/hp-it.babelon.tsv +++ b/babelon/hp-it.babelon.tsv @@ -1,3489 +1,3489 @@ source_language source_value subject_id predicate_id translation_language translation_value translation_status translator translator_expertise comment translation_date -en Multicystic kidney dysplasia HP:0000003 rdfs:label it Displasia renale multicistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent urinary tract infections HP:0000010 rdfs:label it Infezioni ricorrenti del tratto urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neurogenic bladder HP:0000011 rdfs:label it Vescica neurogena CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Urinary urgency HP:0000012 rdfs:label it Urgenza urinaria OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bladder diverticulum HP:0000015 rdfs:label it Diverticolo della vescica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Urinary retention HP:0000016 rdfs:label it Ritenzione urinaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Urinary incontinence HP:0000020 rdfs:label it Incontinenza urinaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inguinal hernia HP:0000023 rdfs:label it Ernia inguinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cryptorchidism HP:0000028 rdfs:label it Criptorchidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Testicular atrophy HP:0000029 rdfs:label it Atrofia testicolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Epididymitis HP:0000031 rdfs:label it Epididimite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 1-2 finger syndactyly HP:0010704 rdfs:label it Sindattilia di 1-2 dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 11 pairs of ribs HP:0000878 rdfs:label it 11 paia di costole CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 2-3 finger syndactyly HP:0001233 rdfs:label it Sindattilia di 2-3 dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 2-3 toe cutaneous syndactyly HP:0005709 rdfs:label it Sindattilia cutanea del 2-3 dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 2-3 toe syndactyly HP:0004691 rdfs:label it Sindattilia del 2-3 dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 2-4 toe cutaneous syndactyly HP:0005768 rdfs:label it Sindattilia cutanea 2-4 dita del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 2-hydroxyglutarate aciduria HP:0032278 rdfs:label it Aciduria da 2-idrossiglutarato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 2:1 atrioventricular block HP:0034305 rdfs:label it Blocco atrio-ventricolare 2:1 OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en 3-4 finger cutaneous syndactyly HP:0011939 rdfs:label it Sindattilia cutanea delle 3-4 dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 3-4 finger syndactyly HP:0006097 rdfs:label it Sindattilia del 3-4 dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 3-Methylglutaconic aciduria HP:0003535 rdfs:label it Aciduria 3-metilglutaconica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en 3-Methylglutaric aciduria HP:0003344 rdfs:label it Aciduria 3-metilglutarica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en 4-5 toe syndactyly HP:0004692 rdfs:label it Sindattilia del quarto e quinto dito del piede OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abdominal aortic aneurysm HP:0005112 rdfs:label it Aneurisma dell'aorta addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abdominal distention HP:0003270 rdfs:label it Distensione addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abdominal obesity HP:0012743 rdfs:label it Obesità addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abdominal pain HP:0002027 rdfs:label it Dolore addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abdominal situs ambiguus HP:0031565 rdfs:label it Situs ambiguus addominale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abdominal situs inversus HP:0003363 rdfs:label it Situs inversus addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abducens palsy HP:0006897 rdfs:label it Paralisi dell'abducente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal B cell count HP:0010975 rdfs:label it Conta anomala delle cellule B CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal CNS myelination HP:0011400 rdfs:label it Anomalia della mielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal EKG HP:0003115 rdfs:label it ECG anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal HDL cholesterol concentration HP:0031888 rdfs:label it Concentrazione anomala di colesterolo HDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal LDL cholesterol concentration HP:0031886 rdfs:label it Concentrazione anormale di colesterolo LDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal QT interval HP:0031547 rdfs:label it Intervallo QT anormale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal ST segment HP:0012249 rdfs:label it Segmento ST anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal T cell count HP:0011839 rdfs:label it Conta anomala delle cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal affect HP:5200261 rdfs:label it Affetto anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal aggressive, impulsive or violent behavior HP:0006919 rdfs:label it Comportamento aggressivo, impulsivo o violento anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal atrioventricular conduction HP:0005150 rdfs:label it Conduzione atrioventricolare anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal auditory evoked potentials HP:0006958 rdfs:label it Potenziali evocati uditivi anormali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal autonomic nervous system physiology HP:0012332 rdfs:label it Fisiologia anomala del sistema nervoso autonomo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal basal ganglia MRI signal intensity HP:0012751 rdfs:label it Intensità anomala del segnale della risonanza magnetica dei gangli della base CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal basal ganglia morphology HP:0002134 rdfs:label it Morfologia anomala dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal bleeding HP:0001892 rdfs:label it Sanguinamento anomalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal blistering of the skin HP:0008066 rdfs:label it Vesciche anomale della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal blood chloride concentration HP:0011422 rdfs:label it Concentrazione anormale di cloruro nel sangue OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal blood folate concentration HP:0040087 rdfs:label it Concentrazione anomala di folati nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal blood glucose concentration HP:0011015 rdfs:label it Concentrazione anomala di glucosio nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal blood phosphate concentration HP:0100529 rdfs:label it Concentrazione anomala di fosfati nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal blood potassium concentration HP:0011042 rdfs:label it Concentrazione anormale di potassio nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal blood sodium concentration HP:0010931 rdfs:label it Concentrazione anormale di sodio nel sangue OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal bone ossification HP:0011849 rdfs:label it Ossificazione ossea anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal brain FDG positron emission tomography HP:0012658 rdfs:label it Tomografia ad emissione di positroni FDG cerebrale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal brain morphology HP:0012443 rdfs:label it Morfologia cerebrale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal brainstem MRI signal intensity HP:0012747 rdfs:label it Intensità anomala del segnale RM del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal brainstem morphology HP:0002363 rdfs:label it Morfologia anomala del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal calvaria morphology HP:0002683 rdfs:label it Morfologia anomala della calvaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal carpal morphology HP:0001191 rdfs:label it Morfologia anomala del carpo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal cerebellum morphology HP:0001317 rdfs:label it Morfologia anormale del cervelletto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cerebral cortex morphology HP:0002538 rdfs:label it Morfologia anomala della corteccia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cerebral morphology HP:0002060 rdfs:label it Morfologia cerebrale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cerebral subcortex morphology HP:0010993 rdfs:label it Morfologia anomala della sottocorteccia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cerebral white matter morphology HP:0002500 rdfs:label it Morfologia anormale della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cerebrospinal fluid morphology HP:0002921 rdfs:label it Morfologia anomala del liquido cerebrospinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal choroid plexus morphology HP:0007376 rdfs:label it Morfologia anomala del plesso coroideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal ciliary motility HP:0012262 rdfs:label it Motilità ciliare anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating C-reactive protein concentration HP:0032436 rdfs:label it Concentrazione anormale di proteina C-reattiva circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating IgA level HP:0410240 rdfs:label it Livello anormale di IgA circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating IgG level HP:0410242 rdfs:label it Livello anormale di IgG circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating IgM level HP:0410243 rdfs:label it Livello anormale di IgM in circolazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating acylcarnitine concentration HP:0012071 rdfs:label it Concentrazione anormale di acilcarnitina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal circulating aldosterone HP:0040085 rdfs:label it Concentrazione anormale di aldosterone circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal circulating amino acid concentration HP:0003112 rdfs:label it Concentrazione anormale di aminoacidi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating calcium concentration HP:0004363 rdfs:label it Concentrazione anormale di calcio in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating copper concentration HP:0010836 rdfs:label it Concentrazione anormale di rame in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating creatine kinase concentration HP:0040081 rdfs:label it Concentrazione anormale di creatina chinasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating creatinine concentration HP:0012100 rdfs:label it Concentrazione anormale di creatinina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating follicle-stimulating hormone concentration HP:0030346 rdfs:label it Concentrazione anormale di ormone follicolo-stimolante circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal circulating free fatty acid concentration HP:0040300 rdfs:label it Concentrazione anormale di acidi grassi liberi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating iron concentration HP:0040130 rdfs:label it Concentrazione anormale di ferro circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal circulating lactate dehydrogenase concentration HP:0045040 rdfs:label it Concentrazione anormale di lattato deidrogenasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating luteinizing hormone concentration HP:0030345 rdfs:label it Concentrazione anormale di ormone luteinizzante circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal circulating renin HP:0040084 rdfs:label it Concentrazione anormale di renina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal circulating testosterone concentration HP:0030087 rdfs:label it Concentrazione anormale di testosterone in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal circulating thyroid hormone concentration HP:0031508 rdfs:label it Concentrazione anormale di ormone tiroideo in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal coronary artery origin HP:0011636 rdfs:label it Origine anomala delle arterie coronarie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal corpus callosum morphology HP:0001273 rdfs:label it Morfologia anomala del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cortical gyration HP:0002536 rdfs:label it Anomalia della rotazione corticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal cranial nerve physiology HP:0031910 rdfs:label it Fisiologia anomala dei nervi cranici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal dense granules HP:0012484 rdfs:label it Granuli densi anomali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal dental enamel morphology HP:0000682 rdfs:label it Morfologia anomala dello smalto dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal dental morphology HP:0006482 rdfs:label it Morfologia dentale anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal dentate nucleus morphology HP:0100321 rdfs:label it Morfologia anomala del nucleo dentato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal dermoepidermal junction morphology HP:0031538 rdfs:label it Morfologia anomala della giunzione dermoepidermica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal diffusion weighted cerebral MRI morphology HP:0032615 rdfs:label it Morfologia anormale della risonanza magnetica cerebrale pesata in diffusione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal eating behavior HP:0100738 rdfs:label it Comportamento alimentare anomalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal electroretinogram HP:0000512 rdfs:label it Elettroretinogramma anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal emotion HP:0100851 rdfs:label it Emozioni anomale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal epiphysis morphology HP:0005930 rdfs:label it Morfologia anomala dell'epifisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal erythrocyte sedimentation rate HP:0025021 rdfs:label it Anomalia della velocità di sedimentazione degli eritrociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal external nose morphology HP:0010938 rdfs:label it Anomalia della morfologia del naso esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal exteroceptive sensation HP:0033747 rdfs:label it Sensibilità esterocettiva anormale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal eye contact HP:0034435 rdfs:label it Contatto visivo anomalo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal eye morphology HP:0012372 rdfs:label it Morfologia anomala dell'occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal eyelid morphology HP:0000492 rdfs:label it Morfologia anomala delle palpebre CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal facial shape HP:0001999 rdfs:label it Forma del viso anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal facility in opposing the shoulders HP:0005259 rdfs:label it Facilità anomala nell'opporre le spalle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal factor VIII activity HP:0030976 rdfs:label it Attività anormale del fattore VIII OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal flash visual evoked potentials HP:0007928 rdfs:label it Potenziali evocati visivi da flash anomali CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal foot morphology HP:0001760 rdfs:label it Morfologia anomala del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal fundus morphology HP:0001098 rdfs:label it Morfologia anomala del fundus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal glucose-6-phosphate dehydrogenase level in blood HP:0410177 rdfs:label it Livello anomalo di glucosio-6-fosfato deidrogenasi nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal hair morphology HP:0001595 rdfs:label it Morfologia anomala dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal hair pattern HP:0010720 rdfs:label it Modello di capelli anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal hair whorl HP:0010721 rdfs:label it Cordiera di capelli anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal heart morphology HP:0001627 rdfs:label it Anomalia della morfologia del cuore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal heart rate variability HP:0031860 rdfs:label it Variabilità anomala della frequenza cardiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal helix morphology HP:0011039 rdfs:label it Morfologia anormale dell'elice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal hepatic iron concentration HP:0040134 rdfs:label it Concentrazione anormale di ferro nel fegato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal ilium morphology HP:0002867 rdfs:label it Morfologia anomala dell'ileo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal immunoglobulin level HP:0010701 rdfs:label it Livello anomalo di immunoglobuline CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal intraocular pressure HP:0012632 rdfs:label it Pressione intraoculare anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal isoelectric focusing of serum transferrin HP:0003160 rdfs:label it Focalizzazione isoelettrica anormale della transferrina sierica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal joint morphology HP:0001367 rdfs:label it Morfologia anomala delle articolazioni OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal left ventricular function HP:0005162 rdfs:label it Funzione ventricolare sinistra anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal leukocyte count HP:0011893 rdfs:label it Conta leucocitaria anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal macular morphology HP:0001103 rdfs:label it Morfologia anomala della macula OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Abnormal male external genitalia morphology HP:0000032 rdfs:label it Morfologia anomala dei genitali esterni maschili CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ambiguous genitalia, male HP:0000033 rdfs:label it Genitali ambigui, maschio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hydrocele testis HP:0000034 rdfs:label it Idrocele del testicolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long penis HP:0000040 rdfs:label it Pene lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chordee HP:0000041 rdfs:label it Cordoglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypogonadotropic hypogonadism HP:0000044 rdfs:label it Ipogonadismo ipogonadotropo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypospadias HP:0000047 rdfs:label it Ipospadia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bifid scrotum HP:0000048 rdfs:label it Scroto bifido CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shawl scrotum HP:0000049 rdfs:label it Scroto a scialle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macroorchidism HP:0000053 rdfs:label it Macroorchidismo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Micropenis HP:0000054 rdfs:label it Micropene CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic labia majora HP:0000059 rdfs:label it Labiopalmo ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ambiguous genitalia HP:0000062 rdfs:label it Genitali ambigui CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic labia minora HP:0000064 rdfs:label it Labbra minori ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Labial hypertrophy HP:0000065 rdfs:label it Ipertrofia labiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Labial hypoplasia HP:0000066 rdfs:label it Ipoplasia delle grandi e/o piccole labbra CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hydroureter HP:0000072 rdfs:label it Idrouretere CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ureteral duplication HP:0000073 rdfs:label it Duplicazione ureterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ureteropelvic junction obstruction HP:0000074 rdfs:label it Ostruzione della giunzione uretero-pelvica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Renal duplication HP:0000075 rdfs:label it Duplicazione renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Vesicoureteral reflux HP:0000076 rdfs:label it Reflusso vescicoureterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the kidney HP:0000077 rdfs:label it Anomalia del rene CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal mandible morphology HP:0000277 rdfs:label it Morfologia anomala della mandibola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal megakaryocyte morphology HP:0012143 rdfs:label it Morfologia anomala dei megacariociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal metaphysis morphology HP:0000944 rdfs:label it Morfologia anomala della metafisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal midbrain morphology HP:0002418 rdfs:label it Morfologia anomala del mesencefalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal mitral valve morphology HP:0001633 rdfs:label it Morfologia anomala della valvola mitrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal motor evoked potentials HP:0012896 rdfs:label it Potenziali evocati motori anormali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal muscle tone HP:0003808 rdfs:label it Tono muscolare anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal myelination HP:0012447 rdfs:label it Mielinizzazione anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal natural killer cell count HP:0040089 rdfs:label it Conta anomala delle cellule natural killer CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal nerve conduction velocity HP:0040129 rdfs:label it Velocità di conduzione nervosa anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal number of alpha granules HP:0012528 rdfs:label it Numero anormale di alfa granuli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal optic disc morphology HP:0012795 rdfs:label it Morfologia anomala del disco ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal pancreas morphology HP:0012090 rdfs:label it Morfologia anomala del pancreas CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal pattern of respiration HP:0002793 rdfs:label it Modello anomalo di respirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal pelvis bone morphology HP:0040163 rdfs:label it Morfologia ossea anormale del bacino CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal periventricular white matter morphology HP:0002518 rdfs:label it Morfologia anomala della sostanza bianca periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal pinna morphology HP:0000377 rdfs:label it Morfologia anomala del padiglione auricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal platelet aggregation HP:0030402 rdfs:label it Aggregazione piastrinica anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal platelet count HP:0011873 rdfs:label it Conta piastrinica anormale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal proportion of CD4-positive T cells HP:0031392 rdfs:label it Percentuale anomala di cellule T CD4-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal proportion of CD8-positive T cells HP:0031393 rdfs:label it Proporzione anomala di cellule T CD8-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal protein N-linked glycosylation HP:0012347 rdfs:label it Anomalia della glicosilazione N-linked delle proteine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal protein O-linked glycosylation HP:0012358 rdfs:label it Anomalie della glicosilazione O-linkata delle proteine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal prothrombin time HP:0032199 rdfs:label it Tempo di protrombina anormale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal pulmonary interstitial morphology HP:0006530 rdfs:label it Morfologia interstiziale polmonare anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal pyramidal sign HP:0007256 rdfs:label it Segno piramidale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal pyramidal tract morphology HP:0002062 rdfs:label it Morfologia anomala del tratto piramidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal radial ray morphology HP:0410049 rdfs:label it Morfologia anomala del raggio radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal rapid eye movement sleep HP:0002494 rdfs:label it Sonno anormale con movimento rapido degli occhi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal reflex HP:0031826 rdfs:label it Riflesso anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal renal morphology HP:0012210 rdfs:label it Morfologia renale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal renal physiology HP:0012211 rdfs:label it Fisiologia renale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal respiratory system physiology HP:0002795 rdfs:label it Fisiologia anomala del sistema respiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal response to social norms HP:5200123 rdfs:label it Risposta anomala alle norme sociali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal saccadic eye movements HP:0000570 rdfs:label it Movimenti oculari saccadici anormali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal sensory nerve conduction velocity HP:0040132 rdfs:label it Velocità di conduzione del nervo sensoriale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal serum insulin-like growth factor 1 level HP:0030352 rdfs:label it Livello anomalo di fattore di crescita 1 insulino-simile nel siero CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal skull morphology HP:0000929 rdfs:label it Morfologia cranica anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal social behavior HP:0012433 rdfs:label it Comportamento sociale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal sperm head morphology HP:0012865 rdfs:label it Morfologia anomala della testa degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal sternum morphology HP:0000766 rdfs:label it Morfologia anomala dello sterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal stool composition HP:0031685 rdfs:label it Composizione anomala delle feci CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal subarachnoid space morphology HP:0012703 rdfs:label it Morfologia anomala dello spazio subaracnoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal subclavian artery morphology HP:0031251 rdfs:label it Morfologia anomala dell'arteria succlavia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal sweat gland morphology HP:0000971 rdfs:label it Morfologia anomala delle ghiandole sudoripare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal systemic blood pressure HP:0030972 rdfs:label it Pressione arteriosa sistemica anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal temper tantrums HP:0025160 rdfs:label it Irritazione anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal thrombosis HP:0001977 rdfs:label it Trombosi anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal thumb morphology HP:0001172 rdfs:label it Morfologia anomala del pollice OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormal upper lip morphology HP:0000177 rdfs:label it Morfologia anormale del labbro superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal upper to lower segment ratio HP:0012772 rdfs:label it Rapporto anormale tra segmento superiore e inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal vertebral morphology HP:0003468 rdfs:label it Morfologia vertebrale anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal vestibular function HP:0001751 rdfs:label it Funzione vestibolare anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormal visual fixation HP:0025404 rdfs:label it Fissazione visiva anomala OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of alkaline phosphatase level HP:0004379 rdfs:label it Anomalia del livello di fosfatasi alcalina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of circulating fibrinogen HP:0011898 rdfs:label it Anomalia del fibrinogeno circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of coagulation HP:0001928 rdfs:label it Anomalia della coagulazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of coordination HP:0011443 rdfs:label it Anomalia della coordinazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of extrapyramidal motor function HP:0002071 rdfs:label it Anomalia della funzione motoria extrapiramidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of eye movement HP:0000496 rdfs:label it Anomalia del movimento degli occhi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of facial musculature HP:0000301 rdfs:label it Anomalia della muscolatura facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of limbs HP:0040064 rdfs:label it Anomalia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of mental function HP:0011446 rdfs:label it Anomalia della funzione mentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of movement HP:0100022 rdfs:label it Anomalia del movimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of muscle size HP:0030236 rdfs:label it Anomalia delle dimensioni dei muscoli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of ocular smooth pursuit HP:0000617 rdfs:label it Anomalia dell'inseguimento oculare lento CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of peripheral nervous system electrophysiology HP:0030177 rdfs:label it Anomalia dell'elettrofisiologia del sistema nervoso periferico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of pulmonary circulation HP:0030875 rdfs:label it Anomalie della circolazione polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of refraction HP:0000539 rdfs:label it Anomalie della rifrazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of skull size HP:0000240 rdfs:label it Anomalia delle dimensioni del cranio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of somatosensory evoked potentials HP:0007377 rdfs:label it Anormalità dei potenziali evocati somatosensoriali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of speech or vocalization HP:0002167 rdfs:label it Anormalità del linguaggio o della vocalizzazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the cardiovascular system HP:0001626 rdfs:label it Anomalia del sistema cardiovascolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of the cervical spine HP:0003319 rdfs:label it Anomalia del rachide cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the coagulation cascade HP:0003256 rdfs:label it Anomalia della cascata coagulativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the dentition HP:0000164 rdfs:label it Anomalia della dentizione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the epiphyses of the feet HP:0010631 rdfs:label it Anomalia delle epifisi dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the eye HP:0000478 rdfs:label it Anomalia dell'occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the face HP:0000271 rdfs:label it Anomalia del viso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the gastrointestinal tract HP:0011024 rdfs:label it Anomalia del tratto gastrointestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Abnormality of the genital system HP:0000078 rdfs:label it Anomalia dell'apparato genitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duplicated collecting system HP:0000081 rdfs:label it Doppio distretto renale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Renal insufficiency HP:0000083 rdfs:label it Insufficienza renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Horseshoe kidney HP:0000085 rdfs:label it Rene a ferro di cavallo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ectopic kidney HP:0000086 rdfs:label it Rene ectopico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal hypoplasia HP:0000089 rdfs:label it Ipoplasia renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal tubular atrophy HP:0000092 rdfs:label it Atrofia tubulare renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Proteinuria HP:0000093 rdfs:label it Proteinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glomerular sclerosis HP:0000096 rdfs:label it Sclerosi glomerulare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Focal segmental glomerulosclerosis HP:0000097 rdfs:label it Glomerulosclerosi focale segmentaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tall stature HP:0000098 rdfs:label it Alta statura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glomerulonephritis HP:0000099 rdfs:label it Glomerulonefrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nephrotic syndrome HP:0000100 rdfs:label it Sindrome nefrosica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polyuria HP:0000103 rdfs:label it Poliuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal agenesis HP:0000104 rdfs:label it Agenesia renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged kidney HP:0000105 rdfs:label it Rene ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal cyst HP:0000107 rdfs:label it Cisti renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal corticomedullary cysts HP:0000108 rdfs:label it Cisti renali cortico-midollari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Renal dysplasia HP:0000110 rdfs:label it Displasia renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polycystic kidney dysplasia HP:0000113 rdfs:label it Displasia renale policistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal phosphate wasting HP:0000117 rdfs:label it Perdita renale di fosfati OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 en Abnormality of the genitourinary system HP:0000119 rdfs:label it Anomalie del sistema genitourinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nephrocalcinosis HP:0000121 rdfs:label it Nefrocalcinosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unilateral renal agenesis HP:0000122 rdfs:label it Agenesia renale unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pelvic kidney HP:0000125 rdfs:label it Rene pelvico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hydronephrosis HP:0000126 rdfs:label it Idronefrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal salt wasting HP:0000127 rdfs:label it Deperimento renale di sale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Menorrhagia HP:0000132 rdfs:label it Menorragia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypogonadism HP:0000135 rdfs:label it Ipogonadismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ovarian cyst HP:0000138 rdfs:label it Cisti ovarica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rectovaginal fistula HP:0000143 rdfs:label it Fistola retto-vaginale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Polycystic ovaries HP:0000147 rdfs:label it Ovaie policistiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide mouth HP:0000154 rdfs:label it Bocca larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oral ulcer HP:0000155 rdfs:label it Ulcera orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macroglossia HP:0000158 rdfs:label it Macroglossia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow mouth HP:0000160 rdfs:label it Bocca stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Median cleft upper lip HP:0000161 rdfs:label it Labiopalatoschisi mediana CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glossoptosis HP:0000162 rdfs:label it Glossoptosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the dentition HP:0000164 rdfs:label it Anomalia della dentizione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe periodontitis HP:0000166 rdfs:label it Parodontite grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Abnormality of the gingiva HP:0000168 rdfs:label it Anomalia della gengiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gingival fibromatosis HP:0000169 rdfs:label it Fibromatosi gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microglossia HP:0000171 rdfs:label it Microglossia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft palate HP:0000175 rdfs:label it Palatoschisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Submucous cleft hard palate HP:0000176 rdfs:label it Palato duro con fessura sottomucosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal upper lip morphology HP:0000177 rdfs:label it Morfologia anormale del labbro superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick lower lip vermilion HP:0000179 rdfs:label it Labbro inferiore spesso e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lobulated tongue HP:0000180 rdfs:label it Lingua lobulata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cleft soft palate HP:0000185 rdfs:label it Palatoschisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad alveolar ridges HP:0000187 rdfs:label it Larghe creste alveolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow palate HP:0000189 rdfs:label it Palato stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Accessory oral frenulum HP:0000191 rdfs:label it Frenulo orale accessorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bifid uvula HP:0000193 rdfs:label it Ugola bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Open mouth HP:0000194 rdfs:label it Bocca aperta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pierre-Robin sequence HP:0000201 rdfs:label it Sequenza di Pierre-Robin OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Orofacial cleft HP:0000202 rdfs:label it Spaccatura orofacciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pursed lips HP:0000205 rdfs:label it Labbra serrate CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Triangular mouth HP:0000207 rdfs:label it Bocca triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gingival overgrowth HP:0000212 rdfs:label it Crescita gengivale eccessiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick upper lip vermilion HP:0000215 rdfs:label it Labbro superiore spesso e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High palate HP:0000218 rdfs:label it Palato alto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin upper lip vermilion HP:0000219 rdfs:label it Labbro superiore sottile e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Velopharyngeal insufficiency HP:0000220 rdfs:label it Insufficienza velofaringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Furrowed tongue HP:0000221 rdfs:label it Lingua solcata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gingival bleeding HP:0000225 rdfs:label it Sanguinamento gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gingivitis HP:0000230 rdfs:label it Gengivite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Everted lower lip vermilion HP:0000232 rdfs:label it Labbro inferiore estroflesso e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin vermilion border HP:0000233 rdfs:label it Bordo vermiglio sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hydrocephalus HP:0000238 rdfs:label it Idrocefalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Large fontanelles HP:0000239 rdfs:label it Fontanelle grandi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of skull size HP:0000240 rdfs:label it Anomalia delle dimensioni del cranio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Parietal bossing HP:0000242 rdfs:label it Bordo parietale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Trigonocephaly HP:0000243 rdfs:label it Trigonocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brachyturricephaly HP:0000244 rdfs:label it Brachiturrorifalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sinusitis HP:0000246 rdfs:label it Sinusite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brachycephaly HP:0000248 rdfs:label it Brachicefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microcephaly HP:0000252 rdfs:label it Microcefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive microcephaly HP:0000253 rdfs:label it Microcefalia progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macrocephaly HP:0000256 rdfs:label it Macrocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide anterior fontanel HP:0000260 rdfs:label it Fontanella anteriore larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Turricephaly HP:0000262 rdfs:label it Turricefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mastoiditis HP:0000265 rdfs:label it Mastoidite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dolichocephaly HP:0000268 rdfs:label it Dolicocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent occiput HP:0000269 rdfs:label it Occipite prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed cranial suture closure HP:0000270 rdfs:label it Ritardo nella chiusura della sutura cranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the face HP:0000271 rdfs:label it Anomalia del viso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Malar flattening HP:0000272 rdfs:label it Appiattimento malare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small face HP:0000274 rdfs:label it Viso piccolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow face HP:0000275 rdfs:label it Viso stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long face HP:0000276 rdfs:label it Viso lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal mandible morphology HP:0000277 rdfs:label it Morfologia anomala della mandibola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retrognathia HP:0000278 rdfs:label it Retrognazia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coarse facial features HP:0000280 rdfs:label it Caratteristiche facciali grossolane CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad face HP:0000283 rdfs:label it Viso largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epicanthus HP:0000286 rdfs:label it Epicanto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased facial adipose tissue HP:0000287 rdfs:label it Aumento del tessuto adiposo facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the philtrum HP:0000288 rdfs:label it Anomalia del filtro CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Broad philtrum HP:0000289 rdfs:label it Ampio philtrum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Full cheeks HP:0000293 rdfs:label it Guance piene CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low anterior hairline HP:0000294 rdfs:label it Bassa attaccatura dei capelli anteriori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Facial hypotonia HP:0000297 rdfs:label it Ipotonia facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mask-like facies HP:0000298 rdfs:label it Faccia a maschera CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oval face HP:0000300 rdfs:label it Viso ovale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of facial musculature HP:0000301 rdfs:label it Anomalia della muscolatura facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mandibular prognathia HP:0000303 rdfs:label it Prognatismo mandibolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pointed chin HP:0000307 rdfs:label it Mento appuntito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microretrognathia HP:0000308 rdfs:label it Microretrognatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Round face HP:0000311 rdfs:label it Viso rotondo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertelorism HP:0000316 rdfs:label it Ipertelorismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Smooth philtrum HP:0000319 rdfs:label it Filetto liscio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bird-like facies HP:0000320 rdfs:label it Faccia da uccello CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Square face HP:0000321 rdfs:label it Faccia quadrata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short philtrum HP:0000322 rdfs:label it Filetto corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Facial asymmetry HP:0000324 rdfs:label it Asimmetria facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Triangular face HP:0000325 rdfs:label it Faccia triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the maxilla HP:0000327 rdfs:label it Ipoplasia della mascella CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short chin HP:0000331 rdfs:label it Mento corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent supraorbital ridges HP:0000336 rdfs:label it Creste sopraorbitali prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad forehead HP:0000337 rdfs:label it Fronte ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypomimic face HP:0000338 rdfs:label it Volto ipomimico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sloping forehead HP:0000340 rdfs:label it Fronte inclinata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow forehead HP:0000341 rdfs:label it Fronte stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long philtrum HP:0000343 rdfs:label it Filetto lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Whistling appearance HP:0000346 rdfs:label it Aspetto fischiante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Micrognathia HP:0000347 rdfs:label it Micrognazia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High forehead HP:0000348 rdfs:label it fronte alta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Widow's peak HP:0000349 rdfs:label it Picco della vedova CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small forehead HP:0000350 rdfs:label it Fronte piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the outer ear HP:0000356 rdfs:label it Anomalia dell'orecchio esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Posteriorly rotated ears HP:0000358 rdfs:label it Orecchie ruotate posteriormente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tinnitus HP:0000360 rdfs:label it Acufene CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hearing abnormality HP:0000364 rdfs:label it Anomalia dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hearing impairment HP:0000365 rdfs:label it Disturbi dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the glabella HP:0002056 rdfs:label it Anomalia della glabella OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of the hand HP:0001155 rdfs:label it Anomalia della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the internal capsule HP:0012502 rdfs:label it Anomalia della capsula interna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the kidney HP:0000077 rdfs:label it Anomalia del rene CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the liver HP:0001392 rdfs:label it Anomalia del fegato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the mitochondrion HP:0012103 rdfs:label it Anomalia del mitocondrio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of the nail HP:0001597 rdfs:label it Anomalia dell'unghia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the nervous system HP:0000707 rdfs:label it Anomalie del sistema nervoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Abnormality of the nose HP:0000366 rdfs:label it Anomalia del naso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low-set, posteriorly rotated ears HP:0000368 rdfs:label it Orecchie a impianto basso e retroruotate OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Low-set ears HP:0000369 rdfs:label it Orecchie basse CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Incomplete partition of the cochlea type II HP:0000376 rdfs:label it Partizione incompleta della coclea di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal pinna morphology HP:0000377 rdfs:label it Morfologia anomala del padiglione auricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cupped ear HP:0000378 rdfs:label it Orecchio a coppa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Preauricular skin tag HP:0000384 rdfs:label it Placca cutanea preauricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small earlobe HP:0000385 rdfs:label it Lobo dell'orecchio piccolo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Otitis media HP:0000388 rdfs:label it Otite media CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic otitis media HP:0000389 rdfs:label it Otite media cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened helices HP:0000391 rdfs:label it Eliche ispessite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lop ear HP:0000394 rdfs:label it Orecchio a sventola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent antihelix HP:0000395 rdfs:label it Antielica prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overfolded helix HP:0000396 rdfs:label it Elica troppo ripiegata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prelingual sensorineural hearing impairment HP:0000399 rdfs:label it Deficit uditivo neurosensoriale prelinguale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macrotia HP:0000400 rdfs:label it Macrozia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stenosis of the external auditory canal HP:0000402 rdfs:label it Stenosi del canale uditivo esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent otitis media HP:0000403 rdfs:label it Otite media ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Conductive hearing impairment HP:0000405 rdfs:label it Disturbo dell'udito conduttivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sensorineural hearing impairment HP:0000407 rdfs:label it Disturbo neurosensoriale dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mixed hearing impairment HP:0000410 rdfs:label it Disturbo misto dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Protruding ear HP:0000411 rdfs:label it Orecchio sporgente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atresia of the external auditory canal HP:0000413 rdfs:label it Atresia del canale uditivo esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bulbous nose HP:0000414 rdfs:label it Naso bulboso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow nasal ridge HP:0000418 rdfs:label it Cresta nasale stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epistaxis HP:0000421 rdfs:label it Epistassi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent nasal bridge HP:0000426 rdfs:label it Ponte nasale prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Underdeveloped nasal alae HP:0000430 rdfs:label it Alae nasali poco sviluppate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide nasal bridge HP:0000431 rdfs:label it Ponte nasale largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Depressed nasal tip HP:0000437 rdfs:label it Punta nasale depressa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Convex nasal ridge HP:0000444 rdfs:label it Cresta nasale convessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide nose HP:0000445 rdfs:label it Naso largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow nasal bridge HP:0000446 rdfs:label it Ponte nasale stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pear-shaped nose HP:0000447 rdfs:label it Naso a pera OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Prominent nose HP:0000448 rdfs:label it Naso prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Choanal stenosis HP:0000452 rdfs:label it Stenosi della cloaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Choanal atresia HP:0000453 rdfs:label it Atresia della cloaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad nasal tip HP:0000455 rdfs:label it Punta nasale ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bifid nasal tip HP:0000456 rdfs:label it Punta nasale bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Depressed nasal ridge HP:0000457 rdfs:label it Cresta nasale depressa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anosmia HP:0000458 rdfs:label it Anosmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow nose HP:0000460 rdfs:label it Naso stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anteverted nares HP:0000463 rdfs:label it Reti nasali invertite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Webbed neck HP:0000465 rdfs:label it Collo palmato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neck muscle weakness HP:0000467 rdfs:label it Debolezza muscolare del collo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short neck HP:0000470 rdfs:label it Collo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Torticollis HP:0000473 rdfs:label it Torticollo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened nuchal skin fold HP:0000474 rdfs:label it Piega cutanea nucale ispessita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad neck HP:0000475 rdfs:label it Collo largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cystic hygroma HP:0000476 rdfs:label it Igroma cistico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the eye HP:0000478 rdfs:label it Anomalia dell'occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal coloboma HP:0000480 rdfs:label it Coloboma retinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microcornea HP:0000482 rdfs:label it Microcornea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Astigmatism HP:0000483 rdfs:label it Astigmatismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Megalocornea HP:0000485 rdfs:label it Megalocornea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Strabismus HP:0000486 rdfs:label it Strabismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinopathy HP:0000488 rdfs:label it Retinopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deeply set eye HP:0000490 rdfs:label it Occhio profondamente incassato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Keratitis HP:0000491 rdfs:label it Cheratite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal eyelid morphology HP:0000492 rdfs:label it Morfologia anomala delle palpebre CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Downslanted palpebral fissures HP:0000494 rdfs:label it Fessure palpebrali disassate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of eye movement HP:0000496 rdfs:label it Anomalia del movimento degli occhi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Blepharitis HP:0000498 rdfs:label it Blefarite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glaucoma HP:0000501 rdfs:label it Glaucoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the outer ear HP:0000356 rdfs:label it Anomalia dell'orecchio esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the philtrum HP:0000288 rdfs:label it Anomalia del filtro CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of the sphenoid sinus HP:0430022 rdfs:label it Anomalia del seno sfenoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the spleen HP:0001743 rdfs:label it Anomalia della milza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of the supraorbital ridges HP:0100538 rdfs:label it Anomalia delle creste sopraorbitarie CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormality of the umbilical cord HP:0010881 rdfs:label it Anomalia del cordone ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of urinary uric acid level HP:0012610 rdfs:label it Anomalia del livello di acido urico urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of urine calcium concentration HP:0011280 rdfs:label it Anomalia della concentrazione di calcio nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Abnormality of vision HP:0000504 rdfs:label it Anomalia della visione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Visual impairment HP:0000505 rdfs:label it Disturbi della vista CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Telecanthus HP:0000506 rdfs:label it Telecanthus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ptosis HP:0000508 rdfs:label it Ptosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Conjunctivitis HP:0000509 rdfs:label it Congiuntivite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rod-cone dystrophy HP:0000510 rdfs:label it Distrofia del bastoncello CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertical supranuclear gaze palsy HP:0000511 rdfs:label it Paralisi verticale dello sguardo sopranucleare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal electroretinogram HP:0000512 rdfs:label it Elettroretinogramma anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slow saccadic eye movements HP:0000514 rdfs:label it Movimenti oculari saccadici lenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cataract HP:0000518 rdfs:label it Cataratta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Developmental cataract HP:0000519 rdfs:label it Cataratta dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proptosis HP:0000520 rdfs:label it Proptosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aniridia HP:0000526 rdfs:label it Aniridia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Long eyelashes HP:0000527 rdfs:label it Ciglia lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive visual loss HP:0000529 rdfs:label it Perdita progressiva della vista OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Chorioretinal atrophy HP:0000533 rdfs:label it Atrofia corioretinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epicanthus inversus HP:0000537 rdfs:label it Epicanto inverso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of refraction HP:0000539 rdfs:label it Anomalie della rifrazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypermetropia HP:0000540 rdfs:label it Ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal detachment HP:0000541 rdfs:label it Distacco di retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Optic disc pallor HP:0000543 rdfs:label it Pallore del disco ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en External ophthalmoplegia HP:0000544 rdfs:label it Oftalmoplegia esterna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myopia HP:0000545 rdfs:label it Miopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal degeneration HP:0000546 rdfs:label it Degenerazione retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cone/cone-rod dystrophy HP:0000548 rdfs:label it Distrofia dei coni/coni-bastoncelli CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Undetectable electroretinogram HP:0000550 rdfs:label it Elettroretinogramma non rilevabile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Uveitis HP:0000554 rdfs:label it Uveite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leukocoria HP:0000555 rdfs:label it Leucocoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal dystrophy HP:0000556 rdfs:label it Distrofia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Corneal scarring HP:0000559 rdfs:label it Cicatrici corneali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormality of visual evoked potentials HP:0000649 rdfs:label it Anormalità dei potenziali evocati visivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormally large globe HP:0001090 rdfs:label it Globo anormalmente grande CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Abnormally low T cell receptor excision circle level HP:0031545 rdfs:label it Livelli anormalmente bassi del cerchio di escissione del recettore delle cellule T (TREC) CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abnormally low-pitched voice HP:0010300 rdfs:label it Voce dal tono anormalmente basso CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Abolished vibration sense HP:0006944 rdfs:label it Abolizione del senso delle vibrazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aborted sudden cardiac death HP:0031628 rdfs:label it Morte cardiaca improvvisa abortita OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Absence of CD8-positive T cells HP:0005422 rdfs:label it Assenza di cellule T CD8-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absence of subcutaneous fat HP:0007485 rdfs:label it Assenza di grasso sottocutaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent Achilles reflex HP:0003438 rdfs:label it Riflesso d'Achille assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent cupid's bow HP:0010800 rdfs:label it Arco di cupido assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent distal interphalangeal creases HP:0001032 rdfs:label it Pieghe interfalangee distali assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent distal phalanges HP:0005807 rdfs:label it Falangi distali assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent eyebrow HP:0002223 rdfs:label it Sopracciglio assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Absent eyelashes HP:0000561 rdfs:label it Ciglia assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Keratoconus HP:0000563 rdfs:label it Cheratocono CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Esotropia HP:0000565 rdfs:label it Esotropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chorioretinal coloboma HP:0000567 rdfs:label it Coloboma corioretinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microphthalmia HP:0000568 rdfs:label it Microftalmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal saccadic eye movements HP:0000570 rdfs:label it Movimenti oculari saccadici anormali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypometric saccades HP:0000571 rdfs:label it Saccadi ipometriche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Visual loss HP:0000572 rdfs:label it Perdita della vista OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Retinal hemorrhage HP:0000573 rdfs:label it Emorragia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick eyebrow HP:0000574 rdfs:label it Sopracciglio folto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exotropia HP:0000577 rdfs:label it Exotropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nasolacrimal duct obstruction HP:0000579 rdfs:label it Ostruzione del dotto nasolacrimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pigmentary retinopathy HP:0000580 rdfs:label it Retinopatia pigmentaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Blepharophimosis HP:0000581 rdfs:label it Blefarofimosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upslanted palpebral fissure HP:0000582 rdfs:label it Fessura palpebrale rovesciata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shallow orbits HP:0000586 rdfs:label it Orbite poco profonde CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Optic disc coloboma HP:0000588 rdfs:label it Coloboma del nervo ottico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Coloboma HP:0000589 rdfs:label it Coloboma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive external ophthalmoplegia HP:0000590 rdfs:label it Oftalmoplegia esterna progressiva OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Blue sclerae HP:0000592 rdfs:label it Sclere blu CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shallow anterior chamber HP:0000594 rdfs:label it Camera anteriore poco profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ophthalmoparesis HP:0000597 rdfs:label it Oftalmoparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypotelorism HP:0000601 rdfs:label it Ipotelorismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ophthalmoplegia HP:0000602 rdfs:label it Oftalmoplegia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central scotoma HP:0000603 rdfs:label it Scotoma centrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Supranuclear gaze palsy HP:0000605 rdfs:label it Paralisi sopranucleare dello sguardo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Optic nerve hypoplasia HP:0000609 rdfs:label it Ipoplasia del nervo ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Iris coloboma HP:0000612 rdfs:label it Coloboma dell'iride CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Photophobia HP:0000613 rdfs:label it Fotofobia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Miosis HP:0000616 rdfs:label it Miosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormality of ocular smooth pursuit HP:0000617 rdfs:label it Anomalia dell'inseguimento oculare lento CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Blindness HP:0000618 rdfs:label it Cecità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Entropion HP:0000621 rdfs:label it Entropion CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Supranuclear ophthalmoplegia HP:0000623 rdfs:label it Oftalmoplegia sopranucleare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Posterior embryotoxon HP:0000627 rdfs:label it Embriotoxon posteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Periorbital fullness HP:0000629 rdfs:label it Pienezza periorbitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal arterial tortuosity HP:0000631 rdfs:label it Tortuosità arteriosa retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Blue irides HP:0000635 rdfs:label it Iride blu CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper eyelid coloboma HP:0000636 rdfs:label it Coloboma della palpebra superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long palpebral fissure HP:0000637 rdfs:label it Fessura palpebrale lunga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nystagmus HP:0000639 rdfs:label it Nistagmo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gaze-evoked nystagmus HP:0000640 rdfs:label it Nistagmo evocato dallo sguardo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent fetal nasal bone HP:0025706 rdfs:label it Osso nasale fetale assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent fifth metatarsal HP:0008079 rdfs:label it Quinto metatarso assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent lower eyelashes HP:0007646 rdfs:label it Assenza delle ciglia inferiori OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Absent nasal septal cartilage HP:0005273 rdfs:label it Cartilagine settale nasale assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent nipple HP:0002561 rdfs:label it Assenza del capezzolo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Absent ossification of capital femoral epiphysis HP:0008820 rdfs:label it Assente ossificazione dell'epifisi femorale capitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent otoacoustic emissions HP:6000182 rdfs:label it Emissioni otoacustiche assenti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Absent palmar crease HP:0010489 rdfs:label it Piega palmare assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent posterior alpha rhythm HP:0031518 rdfs:label it Ritmo alfa posteriore assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent radius HP:0003974 rdfs:label it Raggio assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent sebaceous glands HP:0410400 rdfs:label it Ghiandole sebacee assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent septum pellucidum HP:0001331 rdfs:label it Setto pellucido assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent speech HP:0001344 rdfs:label it Discorso assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent thumb HP:0009777 rdfs:label it Pollice assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent tibia HP:0009556 rdfs:label it Assenza della tibia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Absent toe HP:0010760 rdfs:label it Alluce assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Absent toenail HP:0001802 rdfs:label it Unghia del piede assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acanthocytosis HP:0001927 rdfs:label it Acantocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acantholysis HP:0100792 rdfs:label it Acantolisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acanthosis nigricans HP:0000956 rdfs:label it Acantosi nigricana CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Accelerated skeletal maturation HP:0005616 rdfs:label it Maturazione scheletrica accelerata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Accessory carpal bones HP:0004232 rdfs:label it Ossa carpali accessorie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Accessory oral frenulum HP:0000191 rdfs:label it Frenulo orale accessorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Accessory spleen HP:0001747 rdfs:label it Milza accessoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acetabular dysplasia HP:0008807 rdfs:label it Displasia acetabolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Achilles tendon calcification HP:0025441 rdfs:label it Calcificazione del tendine d'Achille CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Achilles tendon contracture HP:0001771 rdfs:label it Contrazione del tendine d'Achille CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acholic stools HP:0011985 rdfs:label it Feci acoliche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acidemia HP:0032368 rdfs:label it Acidemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acidosis HP:0001941 rdfs:label it Acidosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acral overgrowth HP:0033794 rdfs:label it Crescita acrale eccessiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acral ulceration HP:0006121 rdfs:label it Ulcerazione acrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Acromelia HP:0010884 rdfs:label it Acromelia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acroosteolysis of distal phalanges (feet) HP:0001870 rdfs:label it Acroosteolisi delle falangi distali del piede OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Acroparesthesia HP:0031006 rdfs:label it Acroparestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Action myoclonus HP:0034360 rdfs:label it Mioclono d'azione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Action tremor HP:0002345 rdfs:label it Tremore d'azione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acute aspiration pneumonia HP:0011952 rdfs:label it Polmonite acuta da aspirazione OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Acute encephalopathy HP:0006846 rdfs:label it Encefalopatia acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acute hepatic failure HP:0006554 rdfs:label it Insufficienza epatica acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acute kidney injury HP:0001919 rdfs:label it Insufficienza renale acuta OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Acute lymphoblastic leukemia HP:0006721 rdfs:label it Leucemia linfoblastica acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acute myeloid leukemia HP:0004808 rdfs:label it Leucemia mieloide acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acute respiratory distress syndrome HP:0033677 rdfs:label it Sindrome da distress respiratorio acuto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Acute rhabdomyolysis HP:0008942 rdfs:label it Rabdomiolisi acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Adducted thumb HP:0001181 rdfs:label it Pollice adduttile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Adipose tissue loss HP:0008887 rdfs:label it Perdita di tessuto adiposo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Adrenal insufficiency HP:0000846 rdfs:label it Insufficienza surrenale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Adrenocorticotropic hormone deficiency HP:0011748 rdfs:label it Carenza di ormone adrenocorticotropo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Advanced ossification of carpal bones HP:0004233 rdfs:label it Ossificazione avanzata delle ossa carpali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aganglionic megacolon HP:0002251 rdfs:label it Megacolon agangliare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Agenesis of cerebellar vermis HP:0002335 rdfs:label it Agenesia del verme cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Agenesis of corpus callosum HP:0001274 rdfs:label it Agenesia del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Agenesis of maxillary incisor HP:0200160 rdfs:label it Agenesia dell'incisivo mascellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Agenesis of maxillary lateral incisor HP:0000690 rdfs:label it Agenesia dell'incisivo laterale superiore CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Agenesis of permanent teeth HP:0006349 rdfs:label it Agenesia dei denti permanenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Agenesis of premolar HP:0011051 rdfs:label it Agenesia del premolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Agenesis of the anterior commissure HP:0030302 rdfs:label it Agenesia della commissura anteriore OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aggression towards others HP:5200125 rdfs:label it Aggressività verso gli altri CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aggressive behavior HP:0000718 rdfs:label it Comportamento aggressivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Agitation HP:0000713 rdfs:label it Agitazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Akathisia HP:0031943 rdfs:label it Acatisia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Akinesia HP:0002304 rdfs:label it Acinesia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Albuminuria HP:0012592 rdfs:label it Albuminuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Alkaline urine HP:0032944 rdfs:label it Urine alcaline CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Allergy HP:0012393 rdfs:label it Allergia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Almond-shaped palpebral fissure HP:0007874 rdfs:label it Fessura palpebrale a mandorla OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Alobar holoprosencephaly HP:0006988 rdfs:label it Oloprosencefalia alobare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Alopecia HP:0001596 rdfs:label it Alopecia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Alopecia totalis HP:0007418 rdfs:label it Alopecia totalis CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Alternating esotropia HP:0001137 rdfs:label it Esotropia alternata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Alveolar bone loss around teeth HP:0410027 rdfs:label it Perdita di osso alveolare intorno ai denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Alveolar ridge overgrowth HP:0009085 rdfs:label it Crescita eccessiva della cresta alveolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Alveolar septal thickening HP:0033376 rdfs:label it Ispessimento del setto alveolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Alzheimer disease HP:0002511 rdfs:label it Malattia di Alzheimer OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ambiguous genitalia HP:0000062 rdfs:label it Genitali ambigui CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ambiguous genitalia, male HP:0000033 rdfs:label it Genitali ambigui, maschio CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Amblyopia HP:0000646 rdfs:label it Ambliopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Optic atrophy HP:0000648 rdfs:label it Atrofia ottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of visual evoked potentials HP:0000649 rdfs:label it Anormalità dei potenziali evocati visivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diplopia HP:0000651 rdfs:label it Diplopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower eyelid coloboma HP:0000652 rdfs:label it Coloboma della palpebra inferiore OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Sparse eyelashes HP:0000653 rdfs:label it Ciglia rade CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ectropion HP:0000656 rdfs:label it Ectropion CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oculomotor apraxia HP:0000657 rdfs:label it Aprassia oculomotoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peters anomaly HP:0000659 rdfs:label it Anomalia di Peters CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nyctalopia HP:0000662 rdfs:label it Nictalopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Synophrys HP:0000664 rdfs:label it Sinofrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Horizontal nystagmus HP:0000666 rdfs:label it Nistagmo orizzontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypodontia HP:0000668 rdfs:label it Ipodonzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carious teeth HP:0000670 rdfs:label it Denti cariati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anodontia HP:0000674 rdfs:label it Anodonzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macrodontia of permanent maxillary central incisor HP:0000675 rdfs:label it Macrodontia dell'incisivo centrale permanente mascellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oligodontia HP:0000677 rdfs:label it Oligodonzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dental crowding HP:0000678 rdfs:label it Affollamento dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed eruption of primary teeth HP:0000680 rdfs:label it Ritardo nell'eruzione dei denti primari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal dental enamel morphology HP:0000682 rdfs:label it Morfologia anomala dello smalto dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed eruption of teeth HP:0000684 rdfs:label it Ritardo nell'eruzione dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of teeth HP:0000685 rdfs:label it Ipoplasia dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Widely spaced teeth HP:0000687 rdfs:label it Denti ampiamente distanziati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dental malocclusion HP:0000689 rdfs:label it Malocclusione dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agenesis of maxillary lateral incisor HP:0000690 rdfs:label it Agenesia dell'incisivo laterale superiore CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Microdontia HP:0000691 rdfs:label it Microdontia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tooth malposition HP:0000692 rdfs:label it Malposizione dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Natal tooth HP:0000695 rdfs:label it Dente natale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed eruption of permanent teeth HP:0000696 rdfs:label it Ritardo nell'eruzione dei denti permanenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Conical tooth HP:0000698 rdfs:label it Dente conico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diastema HP:0000699 rdfs:label it Diastema CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dentinogenesis imperfecta HP:0000703 rdfs:label it Dentinogenesi imperfetta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Periodontitis HP:0000704 rdfs:label it Parodontite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Amelia involving the upper limbs HP:0009812 rdfs:label it Amelia che coinvolge gli arti superiori OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Amelogenesis imperfecta HP:0000705 rdfs:label it Amelogenesi imperfetta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eruption failure HP:0000706 rdfs:label it Insufficienza dell'interruzione dell'attività lavorativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the nervous system HP:0000707 rdfs:label it Anomalie del sistema nervoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aminoaciduria HP:0003355 rdfs:label it Aminoaciduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Amyotrophy involving the shoulder musculature HP:0001465 rdfs:label it Amiotrofia della muscolatura della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anal atresia HP:0002023 rdfs:label it Atresia anale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anarthria HP:0002425 rdfs:label it Anartria OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anasarca HP:0012050 rdfs:label it Anasarca OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anemia HP:0001903 rdfs:label it Anemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anemic pallor HP:0001017 rdfs:label it Pallore anemico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Angiofibromas HP:0010615 rdfs:label it Angiofibromi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Angiokeratoma HP:0001014 rdfs:label it Angiocheratoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Angle closure glaucoma HP:0012109 rdfs:label it Glaucoma da chiusura d'angolo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Angular cheilitis HP:0030318 rdfs:label it Cheilite angolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Angulated muscle fibers HP:0034045 rdfs:label it Fibre muscolari angolate CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anhidrosis HP:0000970 rdfs:label it Anidrosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anhydramnios HP:0025700 rdfs:label it Anidramnios CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aniridia HP:0000526 rdfs:label it Aniridia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anisocytosis HP:0011273 rdfs:label it Anisocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anisometropia HP:0012803 rdfs:label it Anisometropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anisopoikilocytosis HP:0004823 rdfs:label it Anisopoikilocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ankle clonus HP:0011448 rdfs:label it Clono della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ankle contracture HP:0034677 rdfs:label it Contrattura della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ankle flexion contracture HP:0006466 rdfs:label it Contrazione della flessione della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ankle pain HP:0030840 rdfs:label it Dolore alla caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ankle swelling HP:0001785 rdfs:label it Gonfiore della caviglia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ankyloglossia HP:0010296 rdfs:label it Anchiloglossia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Annular cutaneous lesion HP:0025528 rdfs:label it Lesione cutanea anulare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Annular pancreas HP:0001734 rdfs:label it Pancreas anulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anodontia HP:0000674 rdfs:label it Anodonzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anomalous origin of right coronary artery from the pulmonary artery HP:0011639 rdfs:label it Origine anomala dell'arteria coronaria destra dall'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anomalous pulmonary venous return HP:0010772 rdfs:label it Ritorno venoso polmonare anomalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anomic aphasia HP:0030784 rdfs:label it Afasia anomica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anosmia HP:0000458 rdfs:label it Anosmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anterior beaking of lumbar vertebrae HP:0008430 rdfs:label it Beccatura anteriore delle vertebre lombari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anterior creases of earlobe HP:0009908 rdfs:label it Pieghe anteriori del lobo dell'orecchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anterior pituitary hypoplasia HP:0010627 rdfs:label it Ipoplasia dell'ipofisi anteriore OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anterior polar cataract HP:0001134 rdfs:label it Cataratta polare anteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anterior wedging of T12 HP:0011940 rdfs:label it Incuneamento anteriore di T12 CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anteriorly placed anus HP:0001545 rdfs:label it Ano posizionato anteriormente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anteverted ears HP:0040080 rdfs:label it Orecchie anteriori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anteverted nares HP:0000463 rdfs:label it Reti nasali invertite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-Sm antibody positivity HP:0033040 rdfs:label it Positività agli anticorpi anti-Sm CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-U1 ribonucleoprotein antibody positivity HP:0033028 rdfs:label it Positività degli anticorpi anti-U1-ribonucleoproteina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-acetylcholine receptor antibody positivity HP:0030208 rdfs:label it Positività agli anticorpi del recettore anti-acetilcolina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-dsDNA antibody positivity HP:0020151 rdfs:label it Positività anticorpi anti-dsDNA CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-ganglioside antibody positivity HP:0031810 rdfs:label it Positività degli anticorpi anti-ganglioside CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-glutamic acid decarboxylase antibody positivity HP:0025329 rdfs:label it Positività degli anticorpi anti-decarbossilasi dell'acido glutammico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-insulin antibody positivity HP:0034062 rdfs:label it Positività degli anticorpi anti-insulina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-integrin antibody positivity HP:4000025 rdfs:label it Positività degli anticorpi anti-integrine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-intrinsic factor antibody positivity HP:6000344 rdfs:label it Positività degli anticorpi contro il fattore intrinseco CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-islet antigen-2 antibody positivity HP:0034063 rdfs:label it Positività degli anticorpi anti-IA2 CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-muscle-specific tyrosine kinase antibody HP:0030210 rdfs:label it Anticorpo anti tirosin-chinasi muscolo-specifico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-platelet antigen antibody positivity HP:4000170 rdfs:label it Positività agli anticorpi antigene piastrinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-smooth muscle antibody positivity HP:0003262 rdfs:label it Positività degli anticorpi anti-muscolo liscio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-thyroglobulin antibody positivity HP:0032069 rdfs:label it Positività degli anticorpi anti-tireoglobulina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-thyroid antibody positivity HP:0430050 rdfs:label it Positività degli anticorpi anti-tiroide OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Anti-thyroid peroxidase antibody positivity HP:0025379 rdfs:label it Positività degli anticorpi anti-perossidasi tiroidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anti-type VII collagen antibody HP:4000031 rdfs:label it Anticorpo anti-collagene di tipo VII OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Antimitochondrial antibody positivity HP:0030167 rdfs:label it Positività degli anticorpi antimitocondriali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Antineutrophil antibody positivity HP:0003453 rdfs:label it Positività degli anticorpi anti-neutrofili OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Antinuclear antibody positivity HP:0003493 rdfs:label it Positività agli anticorpi antinucleari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Anxiety HP:0000739 rdfs:label it Ansia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic aneurysm HP:0004942 rdfs:label it Aneurisma dell'aorta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic arch aneurysm HP:0005113 rdfs:label it Aneurisma dell'arco aortico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aortic dissection HP:0002647 rdfs:label it Dissezione aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic regurgitation HP:0001659 rdfs:label it Rigurgito aortico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic root aneurysm HP:0002616 rdfs:label it Aneurisma della radice aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic rupture HP:0031649 rdfs:label it Rottura dell'aorta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic tortuosity HP:0006687 rdfs:label it Tortuosità aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortic valve stenosis HP:0001650 rdfs:label it Stenosi della valvola aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aortopulmonary collateral arteries HP:0031834 rdfs:label it Arterie collaterali aortopolmonari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Apathy HP:0000741 rdfs:label it Apatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aphasia HP:0002381 rdfs:label it Afasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aphthous ulcer HP:0032154 rdfs:label it Ulcera aftosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia cutis congenita HP:0001057 rdfs:label it Aplasia cutis congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia cutis congenita of scalp HP:0007385 rdfs:label it Aplasia cutis congenita del cuoio capelluto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia of the 1st metacarpal HP:0010035 rdfs:label it Aplasia del 1° metacarpo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the 2nd finger HP:0009535 rdfs:label it Aplasia del 2° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the 3rd finger HP:0009460 rdfs:label it Aplasia del 3° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the distal phalanx of the 4th toe HP:0100379 rdfs:label it Aplasia della falange distale del 4° dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the olfactory bulb HP:0032466 rdfs:label it Aplasia del bulbo olfattivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the olfactory tract HP:0020128 rdfs:label it Aplasia del tratto olfattivo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia of the pectoralis major muscle HP:0009751 rdfs:label it Aplasia del muscolo grande pettorale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia of the premaxilla HP:0010757 rdfs:label it Aplasia premascellare CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia of the semicircular canal HP:0011381 rdfs:label it Aplasia del canale semicircolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the thymus HP:0005359 rdfs:label it Aplasia del timo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia of the ulna HP:0003982 rdfs:label it Aplasia dell'ulna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia/Hypoplasia of the brainstem HP:0007362 rdfs:label it Aplasia/ipoplasia del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia/Hypoplasia of the cerebellar vermis HP:0006817 rdfs:label it Aplasia/ipoplasia del verme cerebellare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia/Hypoplasia of the cerebellum HP:0007360 rdfs:label it Aplasia/ipoplasia del cervelletto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia/Hypoplasia of the cerebral white matter HP:0012429 rdfs:label it Aplasia/ipoplasia della sostanza bianca cerebrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia/Hypoplasia of the cerebrum HP:0007364 rdfs:label it Aplasia/ipoplasia del cervello CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia/Hypoplasia of the corpus callosum HP:0007370 rdfs:label it Aplasia/ipoplasia del corpo calloso OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Aplasia/Hypoplasia of the nails HP:0008386 rdfs:label it Aplasia/ipoplasia delle unghie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia/Hypoplasia of the thumb HP:0009601 rdfs:label it Aplasia/ipoplasia del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplasia/Hypoplasia of the thymus HP:0010515 rdfs:label it Aplasia/ipoplasia del timo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aplastic clavicle HP:0006660 rdfs:label it Clavicola aplastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Apnea HP:0002104 rdfs:label it Apnea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Apneic episodes in infancy HP:0005949 rdfs:label it Episodi apneici nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Appendicular hypotonia HP:0012389 rdfs:label it Ipotonia appendicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Appendicular spasticity HP:0034353 rdfs:label it Spasticità appendicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Apraxia HP:0002186 rdfs:label it Aprassia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aqueductal stenosis HP:0002410 rdfs:label it Stenosi acqueduttale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arachnodactyly HP:0001166 rdfs:label it Aracnodattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arachnoid cyst HP:0100702 rdfs:label it Ciste aracnoidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Areflexia HP:0001284 rdfs:label it Areflessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Areflexia of lower limbs HP:0002522 rdfs:label it Areflessia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Areflexia of upper limbs HP:0012046 rdfs:label it Areflessia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arm dystonia HP:0031960 rdfs:label it Distonia del braccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arrhinencephaly HP:0002139 rdfs:label it Arrencefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arrhythmia HP:0011675 rdfs:label it Aritmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arteria lusoria HP:0031014 rdfs:label it Arteria lusoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arterial dissection HP:0005294 rdfs:label it Dissezione arteriosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arterial rupture HP:0025019 rdfs:label it Rottura delle arterie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arterial tortuosity HP:0005116 rdfs:label it Tortuosità delle arterie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arteriosclerosis HP:0002634 rdfs:label it Arteriosclerosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arthralgia HP:0002829 rdfs:label it Artralgia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arthritis HP:0001369 rdfs:label it Artrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Arthrogryposis multiplex congenita HP:0002804 rdfs:label it Artrogriposi multipla congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ascending aortic dissection HP:0004933 rdfs:label it Dissezione aortica ascendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ascending tubular aorta aneurysm HP:0004970 rdfs:label it Aneurisma dell'aorta tubulare ascendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ascites HP:0001541 rdfs:label it Ascite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aspiration HP:0002835 rdfs:label it Aspirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Aspiration pneumonia HP:0011951 rdfs:label it Polmonite da aspirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Asplenia HP:0001746 rdfs:label it Asplenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Asthenia HP:0025406 rdfs:label it Astenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Asthma HP:0002099 rdfs:label it Asma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Astigmatism HP:0000483 rdfs:label it Astigmatismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Astrocytoma HP:0009592 rdfs:label it Astrocitoma OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Asymmetry of the ears HP:0010722 rdfs:label it Asimmetria delle orecchie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Asymmetry of the thorax HP:0001555 rdfs:label it Asimmetria del torace CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ataxia HP:0001251 rdfs:label it Atassia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atelectasis HP:0100750 rdfs:label it Atelettasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Athetosis HP:0002305 rdfs:label it Atetosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atonic seizure HP:0010819 rdfs:label it Crisi atonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atopic dermatitis HP:0001047 rdfs:label it Dermatite atopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atresia of the external auditory canal HP:0000413 rdfs:label it Atresia del canale uditivo esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrial arrhythmia HP:0001692 rdfs:label it Aritmia atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrial fibrillation HP:0005110 rdfs:label it Fibrillazione atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrial flutter HP:0004749 rdfs:label it Flutter atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrial septal defect HP:0001631 rdfs:label it Difetto del setto atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrial septal dilatation HP:0011995 rdfs:label it Dilatazione del setto atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrichia HP:0500262 rdfs:label it Atrichia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Atrioventricular block HP:0001678 rdfs:label it Blocco atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrioventricular canal defect HP:0006695 rdfs:label it Difetto del canale atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrioventricular dissociation HP:0011709 rdfs:label it Dissociazione atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrophic scars HP:0001075 rdfs:label it Cicatrici atrofiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrophy/Degeneration affecting the brainstem HP:0007366 rdfs:label it Atrofia/degenerazione del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atrophy/Degeneration affecting the cerebrum HP:0007369 rdfs:label it Atrofia/degenerazione del cervello CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Attached earlobe HP:0009907 rdfs:label it Lobo dell'orecchio attaccato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Attention deficit hyperactivity disorder HP:0007018 rdfs:label it Disturbo da deficit di attenzione e iperattività CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Attenuation of retinal blood vessels HP:0007843 rdfs:label it Attenuazione dei vasi sanguigni retinici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atypical absence seizure HP:0007270 rdfs:label it Crisi di assenza atipica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Atypical behavior HP:0000708 rdfs:label it Comportamento atipico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Psychosis HP:0000709 rdfs:label it Psicosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Restlessness HP:0000711 rdfs:label it Irrequietezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Emotional lability HP:0000712 rdfs:label it Labilità emotiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agitation HP:0000713 rdfs:label it Agitazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Depression HP:0000716 rdfs:label it Depressione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atypical sorting HP:5200049 rdfs:label it Ordinamento atipico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Atypical teratoid/rhabdoid tumor HP:0034401 rdfs:label it Tumore teratoide/rabdoide atipico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Auditory hallucination HP:0008765 rdfs:label it Allucinazione uditiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Auricular pit HP:0030025 rdfs:label it Fossa auricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Autism HP:0000717 rdfs:label it Autismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aggressive behavior HP:0000718 rdfs:label it Comportamento aggressivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Compulsive behaviors HP:0000722 rdfs:label it Comportamenti compulsivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Psychotic episodes HP:0000725 rdfs:label it Episodi psicotici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dementia HP:0000726 rdfs:label it Demenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Autistic behavior HP:0000729 rdfs:label it Comportamento autistico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inflexible adherence to routines HP:0000732 rdfs:label it Aderenza inflessibile alle routine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor stereotypy HP:0000733 rdfs:label it Stereotipia motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short attention span HP:0000736 rdfs:label it Breve capacità di attenzione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Irritability HP:0000737 rdfs:label it Irritabilità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hallucinations HP:0000738 rdfs:label it Allucinazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anxiety HP:0000739 rdfs:label it Ansia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Apathy HP:0000741 rdfs:label it Apatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Self-mutilation HP:0000742 rdfs:label it Automutilazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low frustration tolerance HP:0000744 rdfs:label it Bassa tolleranza alla frustrazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delusion HP:0000746 rdfs:label it Delusione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inappropriate laughter HP:0000748 rdfs:label it Risata inappropriata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed speech and language development HP:0000750 rdfs:label it Ritardo nello sviluppo del linguaggio e della parola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperactivity HP:0000752 rdfs:label it Iperattività CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased nerve conduction velocity HP:0000762 rdfs:label it Diminuzione della velocità di conduzione nervosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sensory neuropathy HP:0000763 rdfs:label it Neuropatia sensoriale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal sternum morphology HP:0000766 rdfs:label it Morfologia anomala dello sterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pectus excavatum HP:0000767 rdfs:label it Pectus excavatum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pectus carinatum HP:0000768 rdfs:label it Pectus carinatum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gynecomastia HP:0000771 rdfs:label it Ginecomastia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short ribs HP:0000773 rdfs:label it Coste corte OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Narrow chest HP:0000774 rdfs:label it Torace stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital diaphragmatic hernia HP:0000776 rdfs:label it Ernia diaframmatica congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the thymus HP:0000778 rdfs:label it Ipoplasia del timo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Primary amenorrhea HP:0000786 rdfs:label it Amenorrea primaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nephrolithiasis HP:0000787 rdfs:label it Nefrolitiasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hematuria HP:0000790 rdfs:label it Ematuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en IgA deposition in the glomerulus HP:0000794 rdfs:label it Deposizione glomerulare di IgA OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Oligozoospermia HP:0000798 rdfs:label it Oligozoospermia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cystic renal dysplasia HP:0000800 rdfs:label it Displasia renale cistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enuresis HP:0000805 rdfs:label it Enuresi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Autoamputation of digits HP:0007460 rdfs:label it Autoamputazione delle dita OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Autoimmune antibody positivity HP:0030057 rdfs:label it Positività degli anticorpi autoimmuni OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Autoimmune hemolytic anemia HP:0001890 rdfs:label it Anemia emolitica autoimmune CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Autoimmune thrombocytopenia HP:0001973 rdfs:label it Trombocitopenia autoimmune CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Autoimmunity HP:0002960 rdfs:label it Autoimmunità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Axial dystonia HP:0002530 rdfs:label it Distonia assiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Axial hypotonia HP:0008936 rdfs:label it Ipotonia assiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Axial muscle weakness HP:0003327 rdfs:label it Debolezza muscolare assiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Axillary freckling HP:0000997 rdfs:label it Lentigginosi ascellare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Axillary lymphadenopathy HP:0034752 rdfs:label it Linfoadenopatia ascellare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Axillary pterygium HP:0001060 rdfs:label it Pterigio ascellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en B lymphocytopenia HP:0010976 rdfs:label it Linfocitopenia B CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en BCGitis HP:0020086 rdfs:label it BCGite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en BCGosis HP:0020087 rdfs:label it BCGosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Babinski sign HP:0003487 rdfs:label it Segno di Babinski CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Back pain HP:0003418 rdfs:label it Mal di schiena CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bacteremia HP:0031864 rdfs:label it Batteriemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Basal cell carcinoma HP:0002671 rdfs:label it Carcinoma basocellulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Basal ganglia calcification HP:0002135 rdfs:label it Calcificazione dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Basal ganglia edema HP:0025039 rdfs:label it Edema dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Basal ganglia gliosis HP:0006999 rdfs:label it Gliosi dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Basal lamina onion bulb formation HP:0003400 rdfs:label it Formazione di bulbi di cipolla della lamina basale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Basilar invagination HP:0012366 rdfs:label it Invaginazione basilare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Beaking of vertebral bodies HP:0004568 rdfs:label it Rottura dei corpi vertebrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Beevor's sign HP:0030664 rdfs:label it Segno di Beevor OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bell-shaped thorax HP:0001591 rdfs:label it Torace a campana CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Beta-EEG HP:0011179 rdfs:label it Beta-EEG CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Bicornuate uterus HP:0000813 rdfs:label it Utero bicornuto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypergonadotropic hypogonadism HP:0000815 rdfs:label it Ipogonadismo ipergonadotropo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced eye contact HP:0000817 rdfs:label it Riduzione del contatto visivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diabetes mellitus HP:0000819 rdfs:label it Diabete mellito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypothyroidism HP:0000821 rdfs:label it Ipotiroidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertension HP:0000822 rdfs:label it Ipertensione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed puberty HP:0000823 rdfs:label it Ritardo della pubertà CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased response to growth hormone stimulation test HP:0000824 rdfs:label it Diminuzione della risposta al test di stimolazione dell'ormone della crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Precocious puberty HP:0000826 rdfs:label it Pubertà precoce CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoparathyroidism HP:0000829 rdfs:label it Ipoparatiroidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Insulin-resistant diabetes mellitus HP:0000831 rdfs:label it Diabete mellito resistente all'insulina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperthyroidism HP:0000836 rdfs:label it Ipertiroidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperinsulinemia HP:0000842 rdfs:label it Iperinsulinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperparathyroidism HP:0000843 rdfs:label it Iperparatiroidismo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Adrenal insufficiency HP:0000846 rdfs:label it Insufficienza surrenale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating renin level HP:0000848 rdfs:label it Aumento del livello di renina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital hypothyroidism HP:0000851 rdfs:label it Ipotiroidismo congenito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Insulin resistance HP:0000855 rdfs:label it Insulino-resistenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Secondary hyperparathyroidism HP:0000867 rdfs:label it Iperparatiroidismo secondario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Secondary amenorrhea HP:0000869 rdfs:label it Amenorrea secondaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating prolactin concentration HP:0000870 rdfs:label it Aumentata concentrazione di prolattina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Diabetes insipidus HP:0000873 rdfs:label it Diabete insipido CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oligomenorrhea HP:0000876 rdfs:label it Oligomenorrea OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en 11 pairs of ribs HP:0000878 rdfs:label it 11 paia di costole CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short sternum HP:0000879 rdfs:label it Sterno corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic scapulae HP:0000882 rdfs:label it Scapole ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin ribs HP:0000883 rdfs:label it Costole sottili CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad ribs HP:0000885 rdfs:label it Costole larghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deformed rib cage HP:0000886 rdfs:label it Gabbia toracica deformata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cervical ribs HP:0000891 rdfs:label it Costole cervicali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short clavicles HP:0000894 rdfs:label it Clavicole corte CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lateral clavicle hook HP:0000895 rdfs:label it Gancio laterale della clavicola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rachitic rosary HP:0000897 rdfs:label it Rosario rachitico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Rib fusion HP:0000902 rdfs:label it Fusione costale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive clavicular acroosteolysis HP:0000905 rdfs:label it Acroosteolisi clavicolare progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sprengel anomaly HP:0000912 rdfs:label it Anomalia di Sprengel CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Posterior rib fusion HP:0000913 rdfs:label it Fusione costale posteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shield chest HP:0000914 rdfs:label it Torace a scudo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pectus excavatum of inferior sternum HP:0000915 rdfs:label it Pectus excavatum dello sterno inferiore CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Platyspondyly HP:0000926 rdfs:label it Platisiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal skull morphology HP:0000929 rdfs:label it Morfologia cranica anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened cortex of long bones HP:0000935 rdfs:label it Corteccia ispessita delle ossa lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteopenia HP:0000938 rdfs:label it Osteopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteoporosis HP:0000939 rdfs:label it Osteoporosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysostosis multiplex HP:0000943 rdfs:label it Disostosi multipla OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal metaphysis morphology HP:0000944 rdfs:label it Morfologia anomala della metafisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic ilia HP:0000946 rdfs:label it Ilia ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Jaundice HP:0000952 rdfs:label it Itterizia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperpigmentation of the skin HP:0000953 rdfs:label it Iperpigmentazione della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Single transverse palmar crease HP:0000954 rdfs:label it Singola piega palmare trasversale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acanthosis nigricans HP:0000956 rdfs:label it Acantosi nigricana CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cafe-au-lait spot HP:0000957 rdfs:label it Macchia di Cafe-au-lait CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dry skin HP:0000958 rdfs:label it Pelle secca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sacral dimple HP:0000960 rdfs:label it Fossetta sacrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cyanosis HP:0000961 rdfs:label it Cianosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperkeratosis HP:0000962 rdfs:label it Ipercheratosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin skin HP:0000963 rdfs:label it Pelle sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eczematoid dermatitis HP:0000964 rdfs:label it Dermatite eczematoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutis marmorata HP:0000965 rdfs:label it Cutis marmorata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypohidrosis HP:0000966 rdfs:label it Ipoidrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Petechiae HP:0000967 rdfs:label it Petecchie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Edema HP:0000969 rdfs:label it Edema CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anhidrosis HP:0000970 rdfs:label it Anidrosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal sweat gland morphology HP:0000971 rdfs:label it Morfologia anomala delle ghiandole sudoripare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palmoplantar hyperkeratosis HP:0000972 rdfs:label it Ipercheratosi palmoplantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutis laxa HP:0000973 rdfs:label it Cutis laxa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperextensible skin HP:0000974 rdfs:label it Pelle iperestensibile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperhidrosis HP:0000975 rdfs:label it Iperidrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Soft skin HP:0000977 rdfs:label it Pelle molle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bicoronal synostosis HP:0011318 rdfs:label it Sinostosi bicoronale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bicuspid aortic valve HP:0001647 rdfs:label it Valvola aortica bicuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bicuspid pulmonary valve HP:0005182 rdfs:label it Valvola polmonare bicuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid epiglottis HP:0010564 rdfs:label it Epiglottide bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid nasal tip HP:0000456 rdfs:label it Punta nasale bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid nose HP:0011803 rdfs:label it Naso bifido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid sacrum HP:0009791 rdfs:label it Sacro bifido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid scrotum HP:0000048 rdfs:label it Scroto bifido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid thoracic vertebrae HP:0008437 rdfs:label it Vertebre toraciche bifide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid tongue HP:0010297 rdfs:label it Lingua bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bifid uvula HP:0000193 rdfs:label it Ugola bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral camptodactyly HP:0005617 rdfs:label it Camptodattilia bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral choanal atresia HP:0004502 rdfs:label it Atresia della gola bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral cleft lip HP:0100336 rdfs:label it Labiopalatoschisi bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral cleft palate HP:0100337 rdfs:label it Palatoschisi bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral conductive hearing impairment HP:0008513 rdfs:label it Disturbo bilaterale dell'udito conduttivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral cryptorchidism HP:0008689 rdfs:label it Criptorchidismo bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral facial palsy HP:0430025 rdfs:label it Paralisi facciale bilaterale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bilateral fetal pyelectasis HP:0011129 rdfs:label it Pielectasia fetale bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral intracerebral calcifications HP:0005671 rdfs:label it Calcificazioni intracerebrali bilaterali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral multifocal epileptiform discharges HP:0011189 rdfs:label it Scariche epilettiformi multifocali bilaterali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral perisylvian polymicrogyria HP:0032407 rdfs:label it Polimicrogiria perisilviana bilaterale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bilateral ptosis HP:0001488 rdfs:label it Ptosi bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral radial aplasia HP:0004977 rdfs:label it Aplasia bilaterale del radio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bilateral renal hypoplasia HP:0012584 rdfs:label it Ipoplasia renale bilaterale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bilateral sensorineural hearing impairment HP:0008619 rdfs:label it Deficit uditivo neurosensoriale bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral single transverse palmar creases HP:0007598 rdfs:label it Singola piega palmare trasversale bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral superior vena cava HP:0033379 rdfs:label it Vena cava superiore bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral talipes equinovarus HP:0001776 rdfs:label it Talipes equinovarus bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral tonic-clonic seizure HP:0002069 rdfs:label it Crisi tonico-clonica bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral tonic-clonic seizure with focal onset HP:0007334 rdfs:label it Crisi tonico-clonica bilaterale con esordio focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral tonic-clonic seizure with generalized onset HP:0025190 rdfs:label it Crisi tonico-clonica bilaterale con esordio generalizzato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilateral wrist flexion contracture HP:0012453 rdfs:label it Contrattura bilaterale della flessione del polso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Biliary atresia HP:0005912 rdfs:label it Atresia biliare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilobate gallbladder HP:0005608 rdfs:label it Cistifellea bilobata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bilobed right lung HP:0033183 rdfs:label it Polmone destro bilobato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bipolar affective disorder HP:0007302 rdfs:label it Disturbo affettivo bipolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bird-like facies HP:0000320 rdfs:label it Faccia da uccello CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Birth length less than 3rd percentile HP:0003561 rdfs:label it Lunghezza alla nascita inferiore al 3° percentile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Biventricular hypertrophy HP:0200128 rdfs:label it Ipertrofia biventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bladder diverticulum HP:0000015 rdfs:label it Diverticolo della vescica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Blepharitis HP:0000498 rdfs:label it Blefarite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Blepharochalasis HP:0010749 rdfs:label it Blefarocalasi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Blepharophimosis HP:0000581 rdfs:label it Blefarofimosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Blindness HP:0000618 rdfs:label it Cecità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Blue irides HP:0000635 rdfs:label it Iride blu CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Blue nevus HP:0100814 rdfs:label it Nevo blu CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Blue sclerae HP:0000592 rdfs:label it Sclere blu CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Body ache HP:0033047 rdfs:label it Dolore corporeo CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bone marrow hypercellularity HP:0031020 rdfs:label it Ipercellularità del midollo osseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bone marrow hypocellularity HP:0005528 rdfs:label it Ipocellularità del midollo osseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bone marrow maturation arrest HP:0033606 rdfs:label it Arresto della maturazione del midollo osseo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Bone pain HP:0002653 rdfs:label it Dolore osseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bone spicule pigmentation of the retina HP:0007737 rdfs:label it Pigmentazione a spicole ossee della retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bony paranasal bossing HP:0004407 rdfs:label it Bordi ossei paranasali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bowel incontinence HP:0002607 rdfs:label it Incontinenza intestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bowing of limbs due to multiple fractures HP:0003023 rdfs:label it Inarcamento degli arti dovuto a fratture multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bowing of the legs HP:0002979 rdfs:label it Inarcamento delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bowing of the long bones HP:0006487 rdfs:label it Inarcamento delle ossa lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brachycephaly HP:0000248 rdfs:label it Brachicefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brachydactyly HP:0001156 rdfs:label it Brachidattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brachyturricephaly HP:0000244 rdfs:label it Brachiturrorifalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bradycardia HP:0001662 rdfs:label it Bradicardia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bradykinesia HP:0002067 rdfs:label it Bradicinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bradyopsia HP:0030511 rdfs:label it Bradiopsia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Brain atrophy HP:0012444 rdfs:label it Atrofia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brain imaging abnormality HP:0410263 rdfs:label it Anomalia della diagnostica per immagini del cervello CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Branchial anomaly HP:0009794 rdfs:label it Anomalia branchiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Branchial sinus HP:0100272 rdfs:label it Seno branchiale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Breast carcinoma HP:0003002 rdfs:label it Carcinoma della mammella OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Breathing dysregulation HP:0005957 rdfs:label it Disregolazione della respirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Breech presentation HP:0001623 rdfs:label it Presentazione podalica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brisk reflexes HP:0001348 rdfs:label it Riflessi brischiati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brittle hair HP:0002299 rdfs:label it Capelli fragili CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brittle scalp hair HP:0004779 rdfs:label it Capelli fragili del cuoio capelluto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad 2nd toe HP:0100040 rdfs:label it Secondo dito del piede largo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Broad alveolar ridges HP:0000187 rdfs:label it Larghe creste alveolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad chin HP:0011822 rdfs:label it Mento largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad columella HP:0010761 rdfs:label it Ampia columella CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad distal phalanx of finger HP:0009836 rdfs:label it Falangi distali delle dita della mano larghe OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Broad eyebrow HP:0011229 rdfs:label it Sopracciglio largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad face HP:0000283 rdfs:label it Viso largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad finger HP:0001500 rdfs:label it Dito largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad fingertip HP:0011300 rdfs:label it Polpastrello largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad foot HP:0001769 rdfs:label it Piede largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad forehead HP:0000337 rdfs:label it Fronte ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad hallux HP:0010055 rdfs:label it Alluce largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad ischia HP:0100865 rdfs:label it Ampia ischia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad lateral eyebrow HP:0007933 rdfs:label it Sopracciglio ampio lateralmente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Broad metacarpals HP:0001230 rdfs:label it Metacarpi larghi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad nail HP:0001821 rdfs:label it Unghia larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad nasal tip HP:0000455 rdfs:label it Punta nasale ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad neck HP:0000475 rdfs:label it Collo largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad palm HP:0001169 rdfs:label it Palmo largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad phalanx HP:0006009 rdfs:label it Falange ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad philtrum HP:0000289 rdfs:label it Ampio philtrum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad ribs HP:0000885 rdfs:label it Costole larghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad thumb HP:0011304 rdfs:label it Pollice largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad toe HP:0001837 rdfs:label it Alluce valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad uvula HP:0010809 rdfs:label it Ugola larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Broad-based gait HP:0002136 rdfs:label it Andatura ad ampio raggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bronchiectasis HP:0002110 rdfs:label it Bronchiectasie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bronchiolitis HP:0011950 rdfs:label it Bronchiolite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bronchitis HP:0012387 rdfs:label it Bronchite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bronchogenic cyst HP:0100730 rdfs:label it Cisti broncogena CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bronchomalacia HP:0002780 rdfs:label it Broncomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Bruising susceptibility HP:0000978 rdfs:label it Suscettibilità alle ecchimosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Purpura HP:0000979 rdfs:label it Porpora CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pallor HP:0000980 rdfs:label it Pallore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palmoplantar keratoderma HP:0000982 rdfs:label it Cheratoderma palmoplantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Skin rash HP:0000988 rdfs:label it Eruzione cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pruritus HP:0000989 rdfs:label it Prurito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Xanthomatosis HP:0000991 rdfs:label it Xantomatosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cutaneous photosensitivity HP:0000992 rdfs:label it Fotosensibilità cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Molluscoid pseudotumors HP:0000993 rdfs:label it Pseudotumori molluscoidi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Melanocytic nevus HP:0000995 rdfs:label it Nevo melanocitico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Axillary freckling HP:0000997 rdfs:label it Lentigginosi ascellare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypertrichosis HP:0000998 rdfs:label it Ipertricosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple lentigines HP:0001003 rdfs:label it Lentiggini multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphedema HP:0001004 rdfs:label it Linfedema CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hirsutism HP:0001007 rdfs:label it Irsutismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypopigmentation of the skin HP:0001010 rdfs:label it Ipopigmentazione della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple lipomas HP:0001012 rdfs:label it Lipomi multipli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eruptive xanthomas HP:0001013 rdfs:label it Xantomi eruttivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Angiokeratoma HP:0001014 rdfs:label it Angiocheratoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent superficial veins HP:0001015 rdfs:label it Vene superficiali evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anemic pallor HP:0001017 rdfs:label it Pallore anemico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Erythroderma HP:0001019 rdfs:label it Eritroderma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Urticaria HP:0001025 rdfs:label it Orticaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Soft, doughy skin HP:0001027 rdfs:label it Pelle morbida e pastosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemangioma HP:0001028 rdfs:label it Emangioma OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Poikiloderma HP:0001029 rdfs:label it Poikiloderma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fragile skin HP:0001030 rdfs:label it Pelle fragile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent distal interphalangeal creases HP:0001032 rdfs:label it Pieghe interfalangee distali assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypermelanotic macule HP:0001034 rdfs:label it Macula ipermelanotica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent scalp veins HP:0001043 rdfs:label it Vene del cuoio capelluto evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vitiligo HP:0001045 rdfs:label it Vitiligine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atopic dermatitis HP:0001047 rdfs:label it Dermatite atopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Brushfield spots HP:0001088 rdfs:label it Macchie di Brushfield CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bruxism HP:0003763 rdfs:label it Bruxismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bulbar palsy HP:0001283 rdfs:label it Paralisi bulbare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bulbous nose HP:0000414 rdfs:label it Naso bulboso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Bursitis HP:0025232 rdfs:label it Borsite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Butterfly vertebrae HP:0003316 rdfs:label it Vertebre a farfalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Butterfly vertebral arch HP:0004617 rdfs:label it Arco vertebrale a farfalla CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en C1-C2 subluxation HP:0003320 rdfs:label it Sublussazione atlanto-assiale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en C2-C3 subluxation HP:0008456 rdfs:label it Sublussazione C2-C3 CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en CNS demyelination HP:0007305 rdfs:label it Demielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en CNS hypomyelination HP:0003429 rdfs:label it Ipomielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cachexia HP:0004326 rdfs:label it Cachessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Caesarian section HP:0011410 rdfs:label it Parto cesareo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cafe-au-lait spot HP:0000957 rdfs:label it Macchia di Cafe-au-lait CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Calcification of falx cerebri HP:0005462 rdfs:label it Calcificazione della falce cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Calcium oxalate nephrolithiasis HP:0008672 rdfs:label it Nefrolitiasi da ossalato di calcio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Calf muscle hypertrophy HP:0008981 rdfs:label it Ipertrofia del muscolo del polpaccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Calf muscle pseudohypertrophy HP:0003707 rdfs:label it Pseudoipertrofia del muscolo del polpaccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Calvarial skull defect HP:0001362 rdfs:label it Difetto calvariale del cranio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Camptodactyly HP:0012385 rdfs:label it Camptodattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Camptodactyly of finger HP:0100490 rdfs:label it Camptodattilia del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Camptodactyly of toe HP:0001836 rdfs:label it Camptodattilia del dito del piede OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Candida esophagitis HP:0033351 rdfs:label it Esofagite da Candida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Capillary hemangioma HP:0005306 rdfs:label it Emangioma capillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carcinoid tumor HP:0100570 rdfs:label it Tumore carcinoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cardiac arrest HP:0001695 rdfs:label it Arresto cardiaco CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cardiac conduction abnormality HP:0031546 rdfs:label it Anomalia della conduzione cardiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cardiac rhabdomyoma HP:0009729 rdfs:label it Rabdomioma cardiaco OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cardiogenic shock HP:0030149 rdfs:label it Shock cardiogeno OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cardiomegaly HP:0001640 rdfs:label it Cardiomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cardiomyopathy HP:0001638 rdfs:label it Cardiomiopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cardiorespiratory arrest HP:0006543 rdfs:label it Arresto cardiorespiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carious teeth HP:0000670 rdfs:label it Denti cariati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carotid artery dilatation HP:0012163 rdfs:label it Dilatazione dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carotid artery dissection HP:0012158 rdfs:label it Dissezione dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carotid artery occlusion HP:0012474 rdfs:label it Occlusione dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carotid artery stenosis HP:0100546 rdfs:label it Stenosi dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carotid artery tortuosity HP:0005302 rdfs:label it Tortuosità dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Carpal bone hypoplasia HP:0001498 rdfs:label it Ipoplasia delle ossa del carpo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Carpal synostosis HP:0009702 rdfs:label it Sinostosi carpale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Caseous vernix-like desquamation HP:0025724 rdfs:label it Desquamazione caseosa simile a vernix CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cataract HP:0000518 rdfs:label it Cataratta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Caudate atrophy HP:0002340 rdfs:label it Atrofia del caudato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Cavernous hemangioma HP:0001048 rdfs:label it Emangioma cavernoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Seborrheic dermatitis HP:0001051 rdfs:label it Dermatite seborroica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Nevus flammeus HP:0001052 rdfs:label it Nevo flammeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Milia HP:0001056 rdfs:label it Milia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aplasia cutis congenita HP:0001057 rdfs:label it Aplasia cutis congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor wound healing HP:0001058 rdfs:label it Scarsa guarigione delle ferite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pterygium HP:0001059 rdfs:label it Pterygium CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Axillary pterygium HP:0001060 rdfs:label it Pterigio ascellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Striae distensae HP:0001065 rdfs:label it Striae distensae CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neurofibroma HP:0001067 rdfs:label it Neurofibroma OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mottled pigmentation HP:0001070 rdfs:label it Pigmentazione a chiazze CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened skin HP:0001072 rdfs:label it Pelle ispessita OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cigarette-paper scars HP:0001073 rdfs:label it Cicatrici a carta di sigaretta OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Atrophic scars HP:0001075 rdfs:label it Cicatrici atrofiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cavum septum pellucidum HP:0002389 rdfs:label it Cavum septum pellucidum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Celiac disease HP:0002608 rdfs:label it Malattia celiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cellular immunodeficiency HP:0005374 rdfs:label it Immunodeficienza cellulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cellulitis HP:0100658 rdfs:label it Cellulite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Central adrenal insufficiency HP:0011734 rdfs:label it Insufficienza surrenalica centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Central apnea HP:0002871 rdfs:label it Apnea centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Central core regions in muscle fibers HP:0030230 rdfs:label it "Regioni ""central core"" nelle fibre muscolari" CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Central nervous system cyst HP:0030724 rdfs:label it Cisti del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Central nervous system degeneration HP:0007009 rdfs:label it Degenerazione del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Central scotoma HP:0000603 rdfs:label it Scotoma centrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Central sleep apnea HP:0010536 rdfs:label it Apnea centrale del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Centrally nucleated skeletal muscle fibers HP:0003687 rdfs:label it Fibre muscolari scheletriche a nucleazione centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cephalohematoma HP:0012541 rdfs:label it Cefaloematoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar ataxia associated with quadrupedal gait HP:0009878 rdfs:label it Atassia cerebellare associata ad andatura quadrupedica CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cerebellar atrophy HP:0001272 rdfs:label it Atrofia cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar calcifications HP:0007352 rdfs:label it Calcificazioni cerebellari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cerebellar cortical atrophy HP:0008278 rdfs:label it Atrofia corticale cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar cyst HP:0002350 rdfs:label it Cisti cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar dysplasia HP:0007033 rdfs:label it Displasia cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar edema HP:0030915 rdfs:label it Edema cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar glioma HP:0010795 rdfs:label it Glioma cerebellare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cerebellar hypoplasia HP:0001321 rdfs:label it Ipoplasia cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar vermis atrophy HP:0006855 rdfs:label it Atrofia del verme cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebellar vermis hypoplasia HP:0001320 rdfs:label it Ipoplasia del verme cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral artery stenosis HP:0012492 rdfs:label it Stenosi dell'arteria cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral atrophy HP:0002059 rdfs:label it Atrofia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral calcification HP:0002514 rdfs:label it Calcificazione cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral cortical atrophy HP:0002120 rdfs:label it Atrofia corticale cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral dysmyelination HP:0007266 rdfs:label it Dismielinizzazione cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral edema HP:0002181 rdfs:label it Edema cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral hemorrhage HP:0001342 rdfs:label it Emorragia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral hypomyelination HP:0006808 rdfs:label it Ipomielinizzazione cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral hypoplasia HP:0006872 rdfs:label it Ipoplasia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral ischemia HP:0002637 rdfs:label it Ischemia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral palsy HP:0100021 rdfs:label it Paralisi cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral venous thrombosis HP:0005305 rdfs:label it Trombosi venosa cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral visual impairment HP:0100704 rdfs:label it Disturbo visivo cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral white matter atrophy HP:0012762 rdfs:label it Atrofia della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cerebral white matter hypoplasia HP:0012430 rdfs:label it Ipoplasia della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical C2/C3 vertebral fusion HP:0004602 rdfs:label it Fusione vertebrale cervicale C2/C3 CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical agenesis HP:0030008 rdfs:label it Agenesia cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical instability HP:0008462 rdfs:label it Instabilità cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical kyphosis HP:0002947 rdfs:label it cifosi cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical lymphadenopathy HP:0025289 rdfs:label it Linfoadenopatia cervicale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cervical ribs HP:0000891 rdfs:label it Costole cervicali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical spinal canal stenosis HP:0008445 rdfs:label it Stenosi del canale spinale cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cervical spine instability HP:0010646 rdfs:label it Instabilità del rachide cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cessation of head growth HP:0004485 rdfs:label it Interruzione della crescita della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chaddock reflex HP:0010875 rdfs:label it Riflesso di Chaddock OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Chalazion HP:0010605 rdfs:label it Chalazion CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cherry red spot of the macula HP:0010729 rdfs:label it Macchia rosso ciliegia della macula CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chiari malformation HP:0002308 rdfs:label it Malformazione di Chiari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chiari type I malformation HP:0007099 rdfs:label it Malformazione di Chiari di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chiari type II malformation HP:0025660 rdfs:label it Malformazione di Chiari di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Childhood-onset truncal obesity HP:0008915 rdfs:label it Obesità troncale in età infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Choanal atresia HP:0000453 rdfs:label it Atresia della cloaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Choanal stenosis HP:0000452 rdfs:label it Stenosi della cloaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Cholelithiasis HP:0001081 rdfs:label it Colelitiasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ectopia lentis HP:0001083 rdfs:label it Ectopia lentis CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Papilledema HP:0001085 rdfs:label it Papilledema CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brushfield spots HP:0001088 rdfs:label it Macchie di Brushfield CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormally large globe HP:0001090 rdfs:label it Globo anormalmente grande CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Keratoconjunctivitis HP:0001096 rdfs:label it Cheratocongiuntivite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal fundus morphology HP:0001098 rdfs:label it Morfologia anomala del fundus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Heterochromia iridis HP:0001100 rdfs:label it Eterocromia iridea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal macular morphology HP:0001103 rdfs:label it Morfologia anomala della macula OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Macular hypoplasia HP:0001104 rdfs:label it Ipoplasia maculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Xanthelasma HP:0001114 rdfs:label it Xantelasma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Visual field defect HP:0001123 rdfs:label it Difetto del campo visivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Corneal dystrophy HP:0001131 rdfs:label it Distrofia corneale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lens subluxation HP:0001132 rdfs:label it Sublussazione della lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Constriction of peripheral visual field HP:0001133 rdfs:label it Costrizione del campo visivo periferico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anterior polar cataract HP:0001134 rdfs:label it Cataratta polare anteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alternating esotropia HP:0001137 rdfs:label it Esotropia alternata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Optic neuropathy HP:0001138 rdfs:label it Neuropatia ottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cholestasis HP:0001396 rdfs:label it Colestasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cholesteatoma HP:0009797 rdfs:label it Colesteatoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chordee HP:0000041 rdfs:label it Cordoglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chorea HP:0002072 rdfs:label it Corea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Choreoathetosis HP:0001266 rdfs:label it Coreoatetosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Choriocapillaris atrophy HP:0030491 rdfs:label it Atrofia della coriocapillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chorioretinal atrophy HP:0000533 rdfs:label it Atrofia corioretinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chorioretinal coloboma HP:0000567 rdfs:label it Coloboma corioretinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Choroid plexus cyst HP:0002190 rdfs:label it Cisti del plesso corioideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Choroideremia HP:0001139 rdfs:label it Coroideremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limbal dermoid HP:0001140 rdfs:label it Dermoide limbare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severely reduced visual acuity HP:0001141 rdfs:label it Acutezza visiva gravemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Septate vagina HP:0001153 rdfs:label it Vagina settata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the hand HP:0001155 rdfs:label it Anomalia della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brachydactyly HP:0001156 rdfs:label it Brachidattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Syndactyly HP:0001159 rdfs:label it Sindattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postaxial hand polydactyly HP:0001162 rdfs:label it Polidattilia postassiale della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arachnodactyly HP:0001166 rdfs:label it Aracnodattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad palm HP:0001169 rdfs:label it Palmo largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Split hand HP:0001171 rdfs:label it Mano divisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal thumb morphology HP:0001172 rdfs:label it Morfologia anomala del pollice OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Large hands HP:0001176 rdfs:label it Mani grandi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Preaxial hand polydactyly HP:0001177 rdfs:label it Polidattilia preassiale della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Adducted thumb HP:0001181 rdfs:label it Pollice adduttile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tapered finger HP:0001182 rdfs:label it Dito affusolato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperextensibility of the finger joints HP:0001187 rdfs:label it Iperestensibilità delle articolazioni delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hand clenching HP:0001188 rdfs:label it Serraggio delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal carpal morphology HP:0001191 rdfs:label it Morfologia anomala del carpo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Single umbilical artery HP:0001195 rdfs:label it Arteria ombelicale singola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Triphalangeal thumb HP:0001199 rdfs:label it Pollice trifalangeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent fingertip pads HP:0001212 rdfs:label it Polpastrelli delle dita evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed ossification of carpal bones HP:0001216 rdfs:label it Ritardo nell'ossificazione delle ossa carpali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chromosomal breakage induced by crosslinking agents HP:0003221 rdfs:label it Rottura cromosomica indotta da agenti reticolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic active hepatitis HP:0200120 rdfs:label it Epatite cronica attiva OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Chronic axonal neuropathy HP:0007267 rdfs:label it Neuropatia assonale cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic bronchitis HP:0004469 rdfs:label it Bronchite cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic colitis HP:0100281 rdfs:label it Colite cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic constipation HP:0012450 rdfs:label it Stitichezza cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic cough HP:0034315 rdfs:label it Tosse cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic diarrhea HP:0002028 rdfs:label it Diarrea cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic fatigue HP:0012432 rdfs:label it Stanchezza cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic furunculosis HP:0011132 rdfs:label it Foruncolosi cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic kidney disease HP:0012622 rdfs:label it Malattia renale cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic mucocutaneous candidiasis HP:0002728 rdfs:label it Candidosi cronica mucocutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic oral candidiasis HP:0009098 rdfs:label it Candidosi orale cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic otitis media HP:0000389 rdfs:label it Otite media cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic pain HP:0012532 rdfs:label it Dolore cronico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic respiratory acidosis HP:0012466 rdfs:label it Acidosi respiratoria cronica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Chronic sinusitis HP:0011109 rdfs:label it Sinusite cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Chronic tinea infection HP:0032259 rdfs:label it Infezione cronica da tigna OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Chronotropic incompetence HP:0033992 rdfs:label it Incompetenza cronotropa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cigarette-paper scars HP:0001073 rdfs:label it Cicatrici a carta di sigaretta OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Circumoral cyanosis HP:0032556 rdfs:label it Cianosi circumpolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cirrhosis HP:0001394 rdfs:label it Cirrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Claw hand deformity HP:0034337 rdfs:label it Deformità della mano ad artiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clear cell renal cell carcinoma HP:0006770 rdfs:label it Carcinoma renale a cellule chiare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cleft ala nasi HP:0003191 rdfs:label it Fenditura dell'ala nasale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cleft anterior mitral valve leaflet HP:0011569 rdfs:label it Mancanza del lembo anteriore della valvola mitrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cleft earlobe HP:0011265 rdfs:label it Schisi del lobo auricolare CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cleft helix HP:0009902 rdfs:label it Mancanza dell'elice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cleft lip HP:0410030 rdfs:label it Labbro leporino CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cleft of chin HP:0011323 rdfs:label it Manipolazione del mento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cleft palate HP:0000175 rdfs:label it Palatoschisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cleft soft palate HP:0000185 rdfs:label it Palatoschisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clinodactyly HP:0030084 rdfs:label it Clinodattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clinodactyly of the 2nd finger HP:0040022 rdfs:label it Clinodattilia del 2° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clinodactyly of the 3rd finger HP:0040024 rdfs:label it Clinodattilia del 3° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clinodactyly of the 5th finger HP:0004209 rdfs:label it Clinodattilia del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clitoral hypertrophy HP:0008665 rdfs:label it Ipertrofia clitoridea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clonic seizure HP:0020221 rdfs:label it Crisi clonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clonus HP:0002169 rdfs:label it Clono CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cloverleaf skull HP:0002676 rdfs:label it Cranio a quadrifoglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Clubbing HP:0001217 rdfs:label it Clubbing CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spatulate thumbs HP:0001222 rdfs:label it Pollici spatolati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad metacarpals HP:0001230 rdfs:label it Metacarpi larghi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 2-3 finger syndactyly HP:0001233 rdfs:label it Sindattilia di 2-3 dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hitchhiker thumb HP:0001234 rdfs:label it Pollice da autostoppista CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slender finger HP:0001238 rdfs:label it Dito sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wrist flexion contracture HP:0001239 rdfs:label it Contrazione della flessione del polso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small thenar eminence HP:0001245 rdfs:label it Eminenza thenar piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intellectual disability HP:0001249 rdfs:label it Disabilità intellettuale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Seizure HP:0001250 rdfs:label it Crisi epilettica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ataxia HP:0001251 rdfs:label it Atassia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypotonia HP:0001252 rdfs:label it Ipotonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lethargy HP:0001254 rdfs:label it Letargia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intellectual disability, mild HP:0001256 rdfs:label it Disabilità intellettiva lieve CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spasticity HP:0001257 rdfs:label it Spasticità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic paraplegia HP:0001258 rdfs:label it Paraplegia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clubbing of fingers HP:0100759 rdfs:label it Arrotondamento delle dita delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Clumsiness HP:0002312 rdfs:label it Goffaggine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coarctation of aorta HP:0001680 rdfs:label it Coartazione dell'aorta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coarse facial features HP:0000280 rdfs:label it Caratteristiche facciali grossolane CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coarse hair HP:0002208 rdfs:label it Capelli ruvidi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coarse metaphyseal trabecularization HP:0100670 rdfs:label it Trabecolarizzazione metafisaria grossolana CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cobblestone-like hyperkeratosis HP:0031288 rdfs:label it "Ipercheratosi con aspetto ""ad acciottolato""" CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cognitive impairment HP:0100543 rdfs:label it Compromissione cognitiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cognitive regression HP:0034332 rdfs:label it Regressione cognitiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cogwheel rigidity HP:0002396 rdfs:label it Rigidità delle ruote dentate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coiled sperm flagella HP:0032560 rdfs:label it Flagelli spermatici attorcigliati OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cold-induced sweating HP:0025278 rdfs:label it Sudorazione indotta dal freddo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Colitis HP:0002583 rdfs:label it Colite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Collectionism HP:0030212 rdfs:label it Collezionismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coloboma HP:0000589 rdfs:label it Coloboma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Colon cancer HP:0003003 rdfs:label it Cancro del colon CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Colonic diverticula HP:0002253 rdfs:label it Diverticolosi del colon OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Colpocephaly HP:0030048 rdfs:label it Colpocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Coma HP:0001259 rdfs:label it Coma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysarthria HP:0001260 rdfs:label it Disartria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Global developmental delay HP:0001263 rdfs:label it Ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic diplegia HP:0001264 rdfs:label it Diplegia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyporeflexia HP:0001265 rdfs:label it Iporeflessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Choreoathetosis HP:0001266 rdfs:label it Coreoatetosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mental deterioration HP:0001268 rdfs:label it Deterioramento mentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemiparesis HP:0001269 rdfs:label it Emiparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor delay HP:0001270 rdfs:label it Ritardo motorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polyneuropathy HP:0001271 rdfs:label it Polineuropatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar atrophy HP:0001272 rdfs:label it Atrofia cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal corpus callosum morphology HP:0001273 rdfs:label it Morfologia anomala del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agenesis of corpus callosum HP:0001274 rdfs:label it Agenesia del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertonia HP:0001276 rdfs:label it Ipertonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Orthostatic hypotension HP:0001278 rdfs:label it Ipotensione ortostatica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Syncope HP:0001279 rdfs:label it Sincope CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tetany HP:0001281 rdfs:label it Tetania CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bulbar palsy HP:0001283 rdfs:label it Paralisi bulbare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Areflexia HP:0001284 rdfs:label it Areflessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic tetraparesis HP:0001285 rdfs:label it Tetraparesi spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gait disturbance HP:0001288 rdfs:label it Disturbo dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Confusion HP:0001289 rdfs:label it Confusione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized hypotonia HP:0001290 rdfs:label it Ipotonia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stroke HP:0001297 rdfs:label it Ictus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Encephalopathy HP:0001298 rdfs:label it Encefalopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Parkinsonism HP:0001300 rdfs:label it Parkinsonismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pachygyria HP:0001302 rdfs:label it Pachigiria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dandy-Walker malformation HP:0001305 rdfs:label it Malformazione di Dandy-Walker CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tongue fasciculations HP:0001308 rdfs:label it Fascicolazioni della lingua CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysmetria HP:0001310 rdfs:label it Dismetria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced tendon reflexes HP:0001315 rdfs:label it Riduzione dei riflessi tendinei CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cerebellum morphology HP:0001317 rdfs:label it Morfologia anormale del cervelletto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neonatal hypotonia HP:0001319 rdfs:label it Ipotonia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar vermis hypoplasia HP:0001320 rdfs:label it Ipoplasia del verme cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar hypoplasia HP:0001321 rdfs:label it Ipoplasia cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle weakness HP:0001324 rdfs:label it Debolezza muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Specific learning disability HP:0001328 rdfs:label it Disturbo specifico dell'apprendimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent septum pellucidum HP:0001331 rdfs:label it Setto pellucido assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dystonia HP:0001332 rdfs:label it Distonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Combined immunodeficiency HP:0005387 rdfs:label it Immunodeficienza combinata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Common atrium HP:0011565 rdfs:label it Atrio comune CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Communicating hydrocephalus HP:0001334 rdfs:label it Idrocefalo comunicante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myoclonus HP:0001336 rdfs:label it Mioclono CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tremor HP:0001337 rdfs:label it Tremore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Partial agenesis of the corpus callosum HP:0001338 rdfs:label it Agenesia parziale del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral hemorrhage HP:0001342 rdfs:label it Emorragia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent speech HP:0001344 rdfs:label it Discorso assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperreflexia HP:0001347 rdfs:label it Iperreflessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brisk reflexes HP:0001348 rdfs:label it Riflessi brischiati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slurred speech HP:0001350 rdfs:label it Parlare in modo confuso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Megalencephaly HP:0001355 rdfs:label it Megalencefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Plagiocephaly HP:0001357 rdfs:label it Plagiocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Calvarial skull defect HP:0001362 rdfs:label it Difetto calvariale del cranio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Craniosynostosis HP:0001363 rdfs:label it Craniosinostosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal joint morphology HP:0001367 rdfs:label it Morfologia anomala delle articolazioni OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Arthritis HP:0001369 rdfs:label it Artrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flexion contracture HP:0001371 rdfs:label it Contrazione della flessione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Joint dislocation HP:0001373 rdfs:label it Dislocazione articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Complete atrioventricular canal defect HP:0001674 rdfs:label it Difetto completo del canale atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Complete or near-complete absence of specific antibody response to tetanus vaccine HP:0410295 rdfs:label it Assenza completa o quasi completa di risposta anticorpale specifica al vaccino antitetanico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Complex febrile seizure HP:0011172 rdfs:label it Crisi febbrile complessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Compulsive behaviors HP:0000722 rdfs:label it Comportamenti compulsivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Concave nasal ridge HP:0011120 rdfs:label it Cresta nasale concava CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Conductive hearing impairment HP:0000405 rdfs:label it Disturbo dell'udito conduttivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cone-shaped epiphyses of the phalanges of the hand HP:0010230 rdfs:label it Epifisi a forma di cono delle falangi della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cone-shaped epiphysis HP:0010579 rdfs:label it Epifisi a forma di cono CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cone/cone-rod dystrophy HP:0000548 rdfs:label it Distrofia dei coni/coni-bastoncelli CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Confluent hyperintensity of cerebral white matter on MRI HP:0040330 rdfs:label it Iperintensità confluente della sostanza bianca cerebrale alla risonanza magnetica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Confusion HP:0001289 rdfs:label it Confusione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital bilateral ptosis HP:0007911 rdfs:label it Ptosi bilaterale congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital diaphragmatic hernia HP:0000776 rdfs:label it Ernia diaframmatica congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital facial diplegia HP:0007188 rdfs:label it Diplegia facciale congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital finger flexion contractures HP:0005879 rdfs:label it Contratture congenite della flessione delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Congenital hip dislocation HP:0001374 rdfs:label it Lussazione congenita dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limitation of joint mobility HP:0001376 rdfs:label it Limitazione della mobilità articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited elbow extension HP:0001377 rdfs:label it Limitata estensione del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Joint hypermobility HP:0001382 rdfs:label it Ipermobilità articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip dysplasia HP:0001385 rdfs:label it Displasia dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Joint swelling HP:0001386 rdfs:label it Gonfiore articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Joint stiffness HP:0001387 rdfs:label it Rigidità articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the liver HP:0001392 rdfs:label it Anomalia del fegato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cirrhosis HP:0001394 rdfs:label it Cirrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic fibrosis HP:0001395 rdfs:label it Fibrosi epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cholestasis HP:0001396 rdfs:label it Colestasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic steatosis HP:0001397 rdfs:label it Steatosi epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic failure HP:0001399 rdfs:label it Insufficienza epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatocellular carcinoma HP:0001402 rdfs:label it Carcinoma epatocellulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Periportal fibrosis HP:0001405 rdfs:label it Fibrosi periportale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intrahepatic cholestasis HP:0001406 rdfs:label it Colestasi intraepatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic cysts HP:0001407 rdfs:label it Cisti epatiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Portal hypertension HP:0001409 rdfs:label it Ipertensione portale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased liver function HP:0001410 rdfs:label it Diminuzione della funzionalità epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Micronodular cirrhosis HP:0001413 rdfs:label it Cirrosi micronodulare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Microvesicular hepatic steatosis HP:0001414 rdfs:label it Steatosi epatica microvescicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatosplenomegaly HP:0001433 rdfs:label it Epatosplenomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duplication of metatarsal bones HP:0001449 rdfs:label it Duplicazione delle ossa metatarsali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Amyotrophy involving the shoulder musculature HP:0001465 rdfs:label it Amiotrofia della muscolatura della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed closure of the anterior fontanelle HP:0001476 rdfs:label it Ritardo nella chiusura della fontanella anteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Freckling HP:0001480 rdfs:label it Lentiggini CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eye poking HP:0001483 rdfs:label it Fissazione dell'occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral ptosis HP:0001488 rdfs:label it Ptosi bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carpal bone hypoplasia HP:0001498 rdfs:label it Ipoplasia delle ossa del carpo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Broad finger HP:0001500 rdfs:label it Dito largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Growth abnormality HP:0001507 rdfs:label it Anomalia della crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Failure to thrive HP:0001508 rdfs:label it Mancato sviluppo vegetativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Growth delay HP:0001510 rdfs:label it Ritardo di crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intrauterine growth retardation HP:0001511 rdfs:label it Ritardo di crescita intrauterino CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Obesity HP:0001513 rdfs:label it Obesità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small for gestational age HP:0001518 rdfs:label it Piccolo per l'età gestazionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Disproportionate tall stature HP:0001519 rdfs:label it Statura alta e sproporzionata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Large for gestational age HP:0001520 rdfs:label it Grande per l'età gestazionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Death in infancy HP:0001522 rdfs:label it Morte nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe failure to thrive HP:0001525 rdfs:label it Grave insufficienza di crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Failure to thrive in infancy HP:0001531 rdfs:label it Mancata crescita nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slender build HP:0001533 rdfs:label it Corporatura esile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Umbilical hernia HP:0001537 rdfs:label it Ernia ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Omphalocele HP:0001539 rdfs:label it Omphalocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diastasis recti HP:0001540 rdfs:label it Diastasi rettilinea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ascites HP:0001541 rdfs:label it Ascite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anteriorly placed anus HP:0001545 rdfs:label it Ano posizionato anteriormente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overgrowth HP:0001548 rdfs:label it Crescita eccessiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Asymmetry of the thorax HP:0001555 rdfs:label it Asimmetria del torace CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prenatal movement abnormality HP:0001557 rdfs:label it Anomalia del movimento prenatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased fetal movement HP:0001558 rdfs:label it Diminuzione del movimento fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polyhydramnios HP:0001561 rdfs:label it Polidramnios CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oligohydramnios HP:0001562 rdfs:label it Oligoidramnios CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macrodontia HP:0001572 rdfs:label it Macrodontia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent skin infections HP:0001581 rdfs:label it Infezioni cutanee ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Redundant skin HP:0001582 rdfs:label it Pelle ridondante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rotary nystagmus HP:0001583 rdfs:label it Nistagmo rotatorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bell-shaped thorax HP:0001591 rdfs:label it Torace a campana CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal hair morphology HP:0001595 rdfs:label it Morfologia anomala dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alopecia HP:0001596 rdfs:label it Alopecia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the nail HP:0001597 rdfs:label it Anomalia dell'unghia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laryngomalacia HP:0001601 rdfs:label it Laringomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laryngeal stenosis HP:0001602 rdfs:label it Stenosi laringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vocal cord paralysis HP:0001605 rdfs:label it Paralisi delle corde vocali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Subglottic stenosis HP:0001607 rdfs:label it Stenosi sottoglottica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hoarse voice HP:0001609 rdfs:label it Voce rauca OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypernasal speech HP:0001611 rdfs:label it Parlato ipernasale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weak cry HP:0001612 rdfs:label it Grido debole CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysphonia HP:0001618 rdfs:label it Disfonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High pitched voice HP:0001620 rdfs:label it Voce acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weak voice HP:0001621 rdfs:label it Voce debole CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature birth HP:0001622 rdfs:label it Nascita prematura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Breech presentation HP:0001623 rdfs:label it Presentazione podalica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the cardiovascular system HP:0001626 rdfs:label it Anomalia del sistema cardiovascolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal heart morphology HP:0001627 rdfs:label it Anomalia della morfologia del cuore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventricular septal defect HP:0001629 rdfs:label it Difetto del setto ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrial septal defect HP:0001631 rdfs:label it Difetto del setto atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal mitral valve morphology HP:0001633 rdfs:label it Morfologia anomala della valvola mitrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mitral valve prolapse HP:0001634 rdfs:label it Prolasso della valvola mitrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital horizontal nystagmus HP:0007859 rdfs:label it Nistagmo orizzontale congenito OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Congenital hypothyroidism HP:0000851 rdfs:label it Ipotiroidismo congenito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital megaureter HP:0008676 rdfs:label it Megauretere congenito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital muscular torticollis HP:0005988 rdfs:label it Torcicollo muscolare congenito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital nephrotic syndrome HP:0008677 rdfs:label it Sindrome nefrosica congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital nonbullous ichthyosiform erythroderma HP:0007479 rdfs:label it Eritroderma ittiosiforme congenito non bolloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Congenital sensorineural hearing impairment HP:0008527 rdfs:label it Deficit congenito dell'udito neurosensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Congestive heart failure HP:0001635 rdfs:label it Insufficienza cardiaca congestizia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tetralogy of Fallot HP:0001636 rdfs:label it Tetralogia di Fallot CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cardiomyopathy HP:0001638 rdfs:label it Cardiomiopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertrophic cardiomyopathy HP:0001639 rdfs:label it Cardiomiopatia ipertrofica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cardiomegaly HP:0001640 rdfs:label it Cardiomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonic stenosis HP:0001642 rdfs:label it Stenosi polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patent ductus arteriosus HP:0001643 rdfs:label it Brevetto del dotto arterioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilated cardiomyopathy HP:0001644 rdfs:label it Cardiomiopatia dilatata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sudden cardiac death HP:0001645 rdfs:label it Morte cardiaca improvvisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bicuspid aortic valve HP:0001647 rdfs:label it Valvola aortica bicuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tachycardia HP:0001649 rdfs:label it Tachicardia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic valve stenosis HP:0001650 rdfs:label it Stenosi della valvola aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dextrocardia HP:0001651 rdfs:label it Destrocardia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mitral regurgitation HP:0001653 rdfs:label it Rigurgito mitralico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patent foramen ovale HP:0001655 rdfs:label it Brevetto del forame ovale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prolonged QT interval HP:0001657 rdfs:label it Prolungamento dell'intervallo QT CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic regurgitation HP:0001659 rdfs:label it Rigurgito aortico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Truncus arteriosus HP:0001660 rdfs:label it Tronco arterioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bradycardia HP:0001662 rdfs:label it Bradicardia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventricular fibrillation HP:0001663 rdfs:label it Fibrillazione ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Torsade de pointes HP:0001664 rdfs:label it Torsade de pointes CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Right ventricular hypertrophy HP:0001667 rdfs:label it Ipertrofia del ventricolo destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Transposition of the great arteries HP:0001669 rdfs:label it Trasposizione delle grandi arterie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Complete atrioventricular canal defect HP:0001674 rdfs:label it Difetto completo del canale atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrioventricular block HP:0001678 rdfs:label it Blocco atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coarctation of aorta HP:0001680 rdfs:label it Coartazione dell'aorta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Subvalvular aortic stenosis HP:0001682 rdfs:label it Stenosi aortica subvalvolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Secundum atrial septal defect HP:0001684 rdfs:label it Difetto del setto atriale secundum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myocardial fibrosis HP:0001685 rdfs:label it Fibrosi del miocardio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sinus bradycardia HP:0001688 rdfs:label it Bradicardia sinusale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrial arrhythmia HP:0001692 rdfs:label it Aritmia atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cardiac arrest HP:0001695 rdfs:label it Arresto cardiaco CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Situs inversus totalis HP:0001696 rdfs:label it Situs inversus totalis CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pericardial effusion HP:0001698 rdfs:label it Versamento pericardico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sudden death HP:0001699 rdfs:label it Morte improvvisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pericarditis HP:0001701 rdfs:label it Pericardite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tricuspid valve prolapse HP:0001704 rdfs:label it Prolasso della valvola tricuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Right ventricular failure HP:0001708 rdfs:label it Insufficienza ventricolare destra OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Third degree atrioventricular block HP:0001709 rdfs:label it Blocco atrioventricolare di terzo grado CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left ventricular hypertrophy HP:0001712 rdfs:label it Ipertrofia ventricolare sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventricular hypertrophy HP:0001714 rdfs:label it Ipertrofia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mitral stenosis HP:0001718 rdfs:label it Stenosi mitralica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Double outlet right ventricle HP:0001719 rdfs:label it Ventricolo destro a doppia uscita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pancreatitis HP:0001733 rdfs:label it Pancreatite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Annular pancreas HP:0001734 rdfs:label it Pancreas anulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pancreatic cysts HP:0001737 rdfs:label it Cisti pancreatiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Phimosis HP:0001741 rdfs:label it Fimosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the spleen HP:0001743 rdfs:label it Anomalia della milza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Splenomegaly HP:0001744 rdfs:label it Splenomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Asplenia HP:0001746 rdfs:label it Asplenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Accessory spleen HP:0001747 rdfs:label it Milza accessoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polysplenia HP:0001748 rdfs:label it Polisplenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Single ventricle HP:0001750 rdfs:label it Ventricolo unico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal vestibular function HP:0001751 rdfs:label it Funzione vestibolare anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal foot morphology HP:0001760 rdfs:label it Morfologia anomala del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pes cavus HP:0001761 rdfs:label it Pes cavus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Talipes equinovarus HP:0001762 rdfs:label it Talipes equinovarus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pes planus HP:0001763 rdfs:label it Pes planus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hammertoe HP:0001765 rdfs:label it Alluce a martello CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad foot HP:0001769 rdfs:label it Piede largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Toe syndactyly HP:0001770 rdfs:label it Sindattilia delle dita dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Achilles tendon contracture HP:0001771 rdfs:label it Contrazione del tendine d'Achille CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short foot HP:0001773 rdfs:label it Piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral talipes equinovarus HP:0001776 rdfs:label it Talipes equinovarus bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ankle swelling HP:0001785 rdfs:label it Gonfiore della caviglia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Narrow foot HP:0001786 rdfs:label it Piede stretto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Premature rupture of membranes HP:0001788 rdfs:label it Rottura prematura delle membrane CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hydrops fetalis HP:0001789 rdfs:label it Idrope fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nonimmune hydrops fetalis HP:0001790 rdfs:label it Idrope fetale non immune CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fetal ascites HP:0001791 rdfs:label it Ascite fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small nail HP:0001792 rdfs:label it Unghia piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperconvex nail HP:0001795 rdfs:label it Unghia iperconvessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic toenails HP:0001800 rdfs:label it Unghie dei piedi ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent toenail HP:0001802 rdfs:label it Unghia del piede assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic fingernail HP:0001804 rdfs:label it Unghia ipoplastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Onycholysis HP:0001806 rdfs:label it Onicolisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ridged nail HP:0001807 rdfs:label it Unghia rigata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deep-set nails HP:0001814 rdfs:label it Unghie profonde CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin nail HP:0001816 rdfs:label it Unghia sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad nail HP:0001821 rdfs:label it Unghia larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hallux valgus HP:0001822 rdfs:label it Alluce valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weight loss HP:0001824 rdfs:label it Perdita di peso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postaxial foot polydactyly HP:0001830 rdfs:label it Polidattilia postassiale del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short toe HP:0001831 rdfs:label it Alluce corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Camptodactyly of toe HP:0001836 rdfs:label it Camptodattilia del dito del piede OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Broad toe HP:0001837 rdfs:label it Alluce valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rocker bottom foot HP:0001838 rdfs:label it Piede a dondolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Metatarsus adductus HP:0001840 rdfs:label it Metatarso adduttore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Preaxial foot polydactyly HP:0001841 rdfs:label it Polidattilia preassiale del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overlapping toe HP:0001845 rdfs:label it Alluce sovrapposto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long hallux HP:0001847 rdfs:label it Alluce lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Foot oligodactyly HP:0001849 rdfs:label it Oligodattilia del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sandal gap HP:0001852 rdfs:label it Gola del sandalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Toe clinodactyly HP:0001863 rdfs:label it Clinodattilia dell'alluce CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deep plantar creases HP:0001869 rdfs:label it Pieghe plantari profonde OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Acroosteolysis of distal phalanges (feet) HP:0001870 rdfs:label it Acroosteolisi delle falangi distali del piede OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Thrombocytopenia HP:0001873 rdfs:label it Trombocitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neutropenia HP:0001875 rdfs:label it Neutropenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pancytopenia HP:0001876 rdfs:label it Pancitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemolytic anemia HP:0001878 rdfs:label it Anemia emolitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eosinophilia HP:0001880 rdfs:label it Eosinofilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leukopenia HP:0001882 rdfs:label it Leucopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Talipes HP:0001883 rdfs:label it Talipes CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 2nd toe HP:0001885 rdfs:label it Secondo dito del piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphopenia HP:0001888 rdfs:label it Linfopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Megaloblastic anemia HP:0001889 rdfs:label it Anemia megaloblastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Autoimmune hemolytic anemia HP:0001890 rdfs:label it Anemia emolitica autoimmune CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal bleeding HP:0001892 rdfs:label it Sanguinamento anomalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thrombocytosis HP:0001894 rdfs:label it Trombocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reticulocytopenia HP:0001896 rdfs:label it Reticolocitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Normocytic anemia HP:0001897 rdfs:label it Anemia normocitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Giant platelets HP:0001902 rdfs:label it Piastrine giganti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anemia HP:0001903 rdfs:label it Anemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neutropenia in presence of anti-neutropil antibodies HP:0001904 rdfs:label it Neutropenia in presenza di anticorpi anti-neutropile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thromboembolism HP:0001907 rdfs:label it Tromboembolismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leukemia HP:0001909 rdfs:label it Leucemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute kidney injury HP:0001919 rdfs:label it Insufficienza renale acuta OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Renal artery stenosis HP:0001920 rdfs:label it Stenosi dell'arteria renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reticulocytosis HP:0001923 rdfs:label it Reticolocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sideroblastic anemia HP:0001924 rdfs:label it Anemia sideroblastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acanthocytosis HP:0001927 rdfs:label it Acantocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of coagulation HP:0001928 rdfs:label it Anomalia della coagulazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microcytic anemia HP:0001935 rdfs:label it Anemia microcitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acidosis HP:0001941 rdfs:label it Acidosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Metabolic acidosis HP:0001942 rdfs:label it Acidosi metabolica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoglycemia HP:0001943 rdfs:label it Ipoglicemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dehydration HP:0001944 rdfs:label it Disidratazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fever HP:0001945 rdfs:label it Febbre CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ketosis HP:0001946 rdfs:label it Chetosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal tubular acidosis HP:0001947 rdfs:label it Acidosi tubulare renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Glucose intolerance HP:0001952 rdfs:label it Intolleranza al glucosio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent fever HP:0001954 rdfs:label it Febbre ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Truncal obesity HP:0001956 rdfs:label it Obesità troncale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polydipsia HP:0001959 rdfs:label it Polidipsia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palpitations HP:0001962 rdfs:label it Palpitazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diffuse mesangial sclerosis HP:0001967 rdfs:label it Sclerosi mesangiale diffusa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tubulointerstitial nephritis HP:0001970 rdfs:label it Nefrite tubulointerstiziale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypersplenism HP:0001971 rdfs:label it Ipersplenismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Autoimmune thrombocytopenia HP:0001973 rdfs:label it Trombocitopenia autoimmune CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leukocytosis HP:0001974 rdfs:label it Leucocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced antithrombin III activity HP:0001976 rdfs:label it Ridotta attività dell'antitrombina III CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal thrombosis HP:0001977 rdfs:label it Trombosi anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Megaloblastic bone marrow HP:0001980 rdfs:label it Midollo osseo megaloblastico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Schistocytosis HP:0001981 rdfs:label it Schistocitosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperammonemia HP:0001987 rdfs:label it Iperammoniemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent hypoglycemia HP:0001988 rdfs:label it Ipoglicemia ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Organic aciduria HP:0001992 rdfs:label it Aciduria organica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ketoacidosis HP:0001993 rdfs:label it Chetoacidosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Gout HP:0001997 rdfs:label it Gotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neonatal hypoglycemia HP:0001998 rdfs:label it Ipoglicemia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal facial shape HP:0001999 rdfs:label it Forma del viso anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short columella HP:0002000 rdfs:label it Columella corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deep philtrum HP:0002002 rdfs:label it Filtro profondo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Frontal bossing HP:0002007 rdfs:label it Bordo frontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Morphological central nervous system abnormality HP:0002011 rdfs:label it Anomalia morfologica del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vomiting HP:0002013 rdfs:label it Vomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diarrhea HP:0002014 rdfs:label it Diarrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysphagia HP:0002015 rdfs:label it Disfagia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nausea HP:0002018 rdfs:label it Nausea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Constipation HP:0002019 rdfs:label it Costipazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastroesophageal reflux HP:0002020 rdfs:label it Reflusso gastroesofageo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pyloric stenosis HP:0002021 rdfs:label it Stenosi pilorica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anal atresia HP:0002023 rdfs:label it Atresia anale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Malabsorption HP:0002024 rdfs:label it Malassorbimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abdominal pain HP:0002027 rdfs:label it Dolore addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic diarrhea HP:0002028 rdfs:label it Diarrea cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Esophageal atresia HP:0002032 rdfs:label it Atresia esofagea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor suck HP:0002033 rdfs:label it Scarsa suzione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rectal prolapse HP:0002035 rdfs:label it Prolasso rettale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hiatus hernia HP:0002036 rdfs:label it Ernia dello iato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inflammation of the large intestine HP:0002037 rdfs:label it Infiammazione dell'intestino crasso OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Esophageal varix HP:0002040 rdfs:label it Variante esofagea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypothermia HP:0002045 rdfs:label it Ipotermia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Heat intolerance HP:0002046 rdfs:label it Intolleranza al calore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Malignant hyperthermia HP:0002047 rdfs:label it Ipertermia maligna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Curved linear dimple below the lower lip HP:0002055 rdfs:label it Fossetta lineare curva sotto il labbro inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the glabella HP:0002056 rdfs:label it Anomalia della glabella OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Prominent glabella HP:0002057 rdfs:label it Glabella prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myopathic facies HP:0002058 rdfs:label it Facies miopatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral atrophy HP:0002059 rdfs:label it Atrofia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cerebral morphology HP:0002060 rdfs:label it Morfologia cerebrale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower limb spasticity HP:0002061 rdfs:label it Spasticità degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal pyramidal tract morphology HP:0002062 rdfs:label it Morfologia anomala del tratto piramidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rigidity HP:0002063 rdfs:label it Rigidità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic gait HP:0002064 rdfs:label it Andatura spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gait ataxia HP:0002066 rdfs:label it Atassia dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bradykinesia HP:0002067 rdfs:label it Bradicinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral tonic-clonic seizure HP:0002069 rdfs:label it Crisi tonico-clonica bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limb ataxia HP:0002070 rdfs:label it Atassia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of extrapyramidal motor function HP:0002071 rdfs:label it Anomalia della funzione motoria extrapiramidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chorea HP:0002072 rdfs:label it Corea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive cerebellar ataxia HP:0002073 rdfs:label it Atassia cerebellare progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysdiadochokinesis HP:0002075 rdfs:label it Disdiadochinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Migraine HP:0002076 rdfs:label it Emicrania CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Truncal ataxia HP:0002078 rdfs:label it Atassia troncale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the corpus callosum HP:0002079 rdfs:label it Ipoplasia del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intention tremor HP:0002080 rdfs:label it Tremore intenzionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Encephalocele HP:0002084 rdfs:label it Encefalocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary hypoplasia HP:0002089 rdfs:label it Ipoplasia polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pneumonia HP:0002090 rdfs:label it Polmonite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Restrictive ventilatory defect HP:0002091 rdfs:label it Difetto ventilatorio restrittivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary arterial hypertension HP:0002092 rdfs:label it Ipertensione arteriosa polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory insufficiency HP:0002093 rdfs:label it Insufficienza respiratoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dyspnea HP:0002094 rdfs:label it Dispnea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Emphysema HP:0002097 rdfs:label it Enfisema CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory distress HP:0002098 rdfs:label it Distress respiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Asthma HP:0002099 rdfs:label it Asma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Apnea HP:0002104 rdfs:label it Apnea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemoptysis HP:0002105 rdfs:label it Emottisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pneumothorax HP:0002107 rdfs:label it Pneumotorace CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spontaneous pneumothorax HP:0002108 rdfs:label it Pneumotorace spontaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bronchiectasis HP:0002110 rdfs:label it Bronchiectasie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary infiltrates HP:0002113 rdfs:label it Infiltrazioni polmonari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventriculomegaly HP:0002119 rdfs:label it Ventricolomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral cortical atrophy HP:0002120 rdfs:label it Atrofia corticale cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized non-motor (absence) seizure HP:0002121 rdfs:label it Crisi generalizzata non motoria (assenza) CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized myoclonic seizure HP:0002123 rdfs:label it Crisi mioclonica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polymicrogyria HP:0002126 rdfs:label it Polimicrogiria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Episodic ataxia HP:0002131 rdfs:label it Atassia episodica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Porencephalic cyst HP:0002132 rdfs:label it Cisti porencefalica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Status epilepticus HP:0002133 rdfs:label it Stato epilettico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal basal ganglia morphology HP:0002134 rdfs:label it Morfologia anomala dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Basal ganglia calcification HP:0002135 rdfs:label it Calcificazione dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad-based gait HP:0002136 rdfs:label it Andatura ad ampio raggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Subarachnoid hemorrhage HP:0002138 rdfs:label it Emorragia subaracnoidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arrhinencephaly HP:0002139 rdfs:label it Arrencefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ischemic stroke HP:0002140 rdfs:label it Ictus ischemico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gait imbalance HP:0002141 rdfs:label it Squilibrio dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tethered cord HP:0002144 rdfs:label it Cordone ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypophosphatemia HP:0002148 rdfs:label it Ipofosfatemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperuricemia HP:0002149 rdfs:label it Iperuricemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypercalciuria HP:0002150 rdfs:label it Ipercalciuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating lactate concentration HP:0002151 rdfs:label it Aumento della concentrazione di lattato in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperkalemia HP:0002153 rdfs:label it Ipercalemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperglycinemia HP:0002154 rdfs:label it Iperglicinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertriglyceridemia HP:0002155 rdfs:label it Ipertrigliceridemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperhomocystinemia HP:0002160 rdfs:label it Iperomocistinemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Low posterior hairline HP:0002162 rdfs:label it Bassa attaccatura posteriore dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nail dysplasia HP:0002164 rdfs:label it Displasia ungueale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired vibration sensation in the lower limbs HP:0002166 rdfs:label it Compromissione della sensibilità vibratoria degli arti inferiori OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormality of speech or vocalization HP:0002167 rdfs:label it Anormalità del linguaggio o della vocalizzazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clonus HP:0002169 rdfs:label it Clono CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intracranial hemorrhage HP:0002170 rdfs:label it Emorragia intracranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gliosis HP:0002171 rdfs:label it Gliosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postural instability HP:0002172 rdfs:label it Instabilità posturale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postural tremor HP:0002174 rdfs:label it Tremore posturale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spinal cord compression HP:0002176 rdfs:label it Compressione del midollo spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Opisthotonus HP:0002179 rdfs:label it Opistotono CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neurodegeneration HP:0002180 rdfs:label it Neurodegenerazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral edema HP:0002181 rdfs:label it Edema cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Phonophobia HP:0002183 rdfs:label it Fonofobia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neurofibrillary tangles HP:0002185 rdfs:label it Grovigli neurofibrillari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Apraxia HP:0002186 rdfs:label it Aprassia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intellectual disability, profound HP:0002187 rdfs:label it Disabilità intellettiva profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed CNS myelination HP:0002188 rdfs:label it Ritardo nella mielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Choroid plexus cyst HP:0002190 rdfs:label it Cisti del plesso corioideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive spasticity HP:0002191 rdfs:label it Spasticità progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pseudobulbar affect HP:0002193 rdfs:label it Affetto pseudobulbare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed gross motor development HP:0002194 rdfs:label it Ritardo nello sviluppo della motricità lorda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myelopathy HP:0002196 rdfs:label it Mielopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized-onset seizure HP:0002197 rdfs:label it Crisi epilettica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilated fourth ventricle HP:0002198 rdfs:label it Quarto ventricolo dilatato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypocalcemic seizures HP:0002199 rdfs:label it Crisi ipocalcemiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pleural effusion HP:0002202 rdfs:label it Versamento pleurico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent respiratory infections HP:0002205 rdfs:label it Infezioni respiratorie ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary fibrosis HP:0002206 rdfs:label it Fibrosi polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coarse hair HP:0002208 rdfs:label it Capelli ruvidi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sparse scalp hair HP:0002209 rdfs:label it Capelli radi del cuoio capelluto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Curly hair HP:0002212 rdfs:label it Capelli ricci CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fine hair HP:0002213 rdfs:label it Capelli fini CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature graying of hair HP:0002216 rdfs:label it Ingrigimento precoce dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slow-growing hair HP:0002217 rdfs:label it Capelli a crescita lenta OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent eyebrow HP:0002223 rdfs:label it Sopracciglio assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en White eyebrow HP:0002226 rdfs:label it Sopracciglio bianco CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en White eyelashes HP:0002227 rdfs:label it Ciglia bianche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized hirsutism HP:0002230 rdfs:label it Irsutismo generalizzato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Frontal upsweep of hair HP:0002236 rdfs:label it Capelli frontali a spazzola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastrointestinal hemorrhage HP:0002239 rdfs:label it Emorragia gastrointestinale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hepatomegaly HP:0002240 rdfs:label it Epatomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Protein-losing enteropathy HP:0002243 rdfs:label it Enteropatia da perdita di proteine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Meckel diverticulum HP:0002245 rdfs:label it Diverticolo di Meckel OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Duodenal atresia HP:0002247 rdfs:label it Atresia duodenale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aganglionic megacolon HP:0002251 rdfs:label it Megacolon agangliare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Colonic diverticula HP:0002253 rdfs:label it Diverticolosi del colon OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Intermittent diarrhea HP:0002254 rdfs:label it Diarrea intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exaggerated cupid's bow HP:0002263 rdfs:label it Arco di cupido esagerato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Large fleshy ears HP:0002265 rdfs:label it Orecchie grandi e carnose CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal clonic seizure HP:0002266 rdfs:label it Crisi focale clonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exaggerated startle response HP:0002267 rdfs:label it Risposta esagerata allo spavento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tetraparesis HP:0002273 rdfs:label it Tetraparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor motor coordination HP:0002275 rdfs:label it Scarsa coordinazione motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged cisterna magna HP:0002280 rdfs:label it Cisterna magna allargata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gray matter heterotopia HP:0002282 rdfs:label it Eterotopia della materia grigia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Global brain atrophy HP:0002283 rdfs:label it Atrofia cerebrale globale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fair hair HP:0002286 rdfs:label it Capelli chiari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive alopecia HP:0002287 rdfs:label it Alopecia progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Red hair HP:0002297 rdfs:label it Capelli rossi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Brittle hair HP:0002299 rdfs:label it Capelli fragili CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mutism HP:0002300 rdfs:label it Mutismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemiplegia HP:0002301 rdfs:label it Emiplegia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Akinesia HP:0002304 rdfs:label it Acinesia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Athetosis HP:0002305 rdfs:label it Atetosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Drooling HP:0002307 rdfs:label it Sbavatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chiari malformation HP:0002308 rdfs:label it Malformazione di Chiari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Orofacial dyskinesia HP:0002310 rdfs:label it Discinesia orofacciale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Incoordination HP:0002311 rdfs:label it Incoordinazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clumsiness HP:0002312 rdfs:label it Goffaggine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic paraparesis HP:0002313 rdfs:label it Paraparesi spastica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Headache HP:0002315 rdfs:label it Cefalea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unsteady gait HP:0002317 rdfs:label it Andatura instabile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertigo HP:0002321 rdfs:label it Vertigini CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Resting tremor HP:0002322 rdfs:label it Tremore a riposo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hydranencephaly HP:0002324 rdfs:label it Idranencefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Transient ischemic attack HP:0002326 rdfs:label it Attacco ischemico transitorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Drowsiness HP:0002329 rdfs:label it Sonnolenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor deterioration HP:0002333 rdfs:label it Deterioramento motorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agenesis of cerebellar vermis HP:0002335 rdfs:label it Agenesia del verme cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Caudate atrophy HP:0002340 rdfs:label it Atrofia del caudato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Intellectual disability, moderate HP:0002342 rdfs:label it Disabilità intellettiva moderata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Normal pressure hydrocephalus HP:0002343 rdfs:label it Idrocefalo normoteso OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Progressive neurologic deterioration HP:0002344 rdfs:label it Deterioramento neurologico progressivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Action tremor HP:0002345 rdfs:label it Tremore d'azione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Head tremor HP:0002346 rdfs:label it Tremore della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal aware seizure HP:0002349 rdfs:label it Crisi epilettica focale consapevole CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar cyst HP:0002350 rdfs:label it Cisti cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leukoencephalopathy HP:0002352 rdfs:label it Leucoencefalopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG abnormality HP:0002353 rdfs:label it Anomalia dell'EEG CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Memory impairment HP:0002354 rdfs:label it Disturbo della memoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Difficulty walking HP:0002355 rdfs:label it Difficoltà a camminare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Writer's cramp HP:0002356 rdfs:label it Crampo dello scrivano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Frequent falls HP:0002359 rdfs:label it Cadute frequenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sleep abnormality HP:0002360 rdfs:label it Anomalia del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Psychomotor deterioration HP:0002361 rdfs:label it Deterioramento psicomotorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shuffling gait HP:0002362 rdfs:label it Andatura irregolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal brainstem morphology HP:0002363 rdfs:label it Morfologia anomala del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the brainstem HP:0002365 rdfs:label it Ipoplasia del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Visual hallucination HP:0002367 rdfs:label it Allucinazione visiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor coordination HP:0002370 rdfs:label it Scarsa coordinazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Loss of speech HP:0002371 rdfs:label it Perdita del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Normal interictal EEG HP:0002372 rdfs:label it EEG interictale normale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Febrile seizure (within the age range of 3 months to 6 years) HP:0002373 rdfs:label it Crisi febbrile (nell'intervallo di età compreso tra 3 mesi e 6 anni) CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypokinesia HP:0002375 rdfs:label it Ipocinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Developmental regression HP:0002376 rdfs:label it Regressione dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hand tremor HP:0002378 rdfs:label it Tremore della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fasciculations HP:0002380 rdfs:label it Fascicolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aphasia HP:0002381 rdfs:label it Afasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Infectious encephalitis HP:0002383 rdfs:label it Encefalite infettiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal impaired awareness seizure HP:0002384 rdfs:label it Crisi focale di scarsa consapevolezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Paraparesis HP:0002385 rdfs:label it Paraparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cavum septum pellucidum HP:0002389 rdfs:label it Cavum septum pellucidum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with polyspike wave complexes HP:0002392 rdfs:label it EEG con complessi di onde polisporiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower limb hyperreflexia HP:0002395 rdfs:label it Iperreflessia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cogwheel rigidity HP:0002396 rdfs:label it Rigidità delle ruote dentate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Positive Romberg sign HP:0002403 rdfs:label it Segno di Romberg positivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limb dysmetria HP:0002406 rdfs:label it Dismetria degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aqueductal stenosis HP:0002410 rdfs:label it Stenosi acqueduttale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myokymia HP:0002411 rdfs:label it Miochimia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Leukodystrophy HP:0002415 rdfs:label it Leucodistrofia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal midbrain morphology HP:0002418 rdfs:label it Morfologia anomala del mesencefalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Molar tooth sign on MRI HP:0002419 rdfs:label it Segno dei denti molari alla risonanza magnetica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor head control HP:0002421 rdfs:label it Scarso controllo della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long-tract signs HP:0002423 rdfs:label it Segni dei tratti lunghi CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anarthria HP:0002425 rdfs:label it Anartria OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Expressive aphasia HP:0002427 rdfs:label it Afasia espressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Meningocele HP:0002435 rdfs:label it Meningocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dyscalculia HP:0002442 rdfs:label it Discalculia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypothalamic hamartoma HP:0002444 rdfs:label it Amartoma ipotalamico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tetraplegia HP:0002445 rdfs:label it Tetraplegia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive encephalopathy HP:0002448 rdfs:label it Encefalopatia progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limb dystonia HP:0002451 rdfs:label it Distonia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eye of the tiger anomaly of globus pallidus HP:0002454 rdfs:label it Segno dell'occhio di tigre (globus pallidus) OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Distal muscle weakness HP:0002460 rdfs:label it Debolezza muscolare distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Language impairment HP:0002463 rdfs:label it Disturbo del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor speech HP:0002465 rdfs:label it Linguaggio insufficiente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nonprogressive cerebellar ataxia HP:0002470 rdfs:label it Atassia cerebellare non progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Expressive language delay HP:0002474 rdfs:label it Ritardo del linguaggio espressivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myelomeningocele HP:0002475 rdfs:label it Mielomeningocele OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Myotonia HP:0002486 rdfs:label it Miotonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperkinetic movements HP:0002487 rdfs:label it Movimenti ipercinetici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased CSF lactate HP:0002490 rdfs:label it Aumento del lattato nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper motor neuron dysfunction HP:0002493 rdfs:label it Disfunzione del motoneurone superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal rapid eye movement sleep HP:0002494 rdfs:label it Sonno anormale con movimento rapido degli occhi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired vibratory sensation HP:0002495 rdfs:label it Sensazione vibratoria alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic ataxia HP:0002497 rdfs:label it Atassia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cerebral white matter morphology HP:0002500 rdfs:label it Morfologia anormale della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spinocerebellar tract degeneration HP:0002503 rdfs:label it Degenerazione del tratto spinocerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Loss of ambulation HP:0002505 rdfs:label it Perdita della deambulazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diffuse cerebral atrophy HP:0002506 rdfs:label it Atrofia cerebrale diffusa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Semilobar holoprosencephaly HP:0002507 rdfs:label it Oloprosencefalia semilobare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limb hypertonia HP:0002509 rdfs:label it Ipertonia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic tetraplegia HP:0002510 rdfs:label it Tetraplegia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alzheimer disease HP:0002511 rdfs:label it Malattia di Alzheimer OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebral calcification HP:0002514 rdfs:label it Calcificazione cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Waddling gait HP:0002515 rdfs:label it Andatura ondeggiante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased intracranial pressure HP:0002516 rdfs:label it Aumento della pressione intracranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal periventricular white matter morphology HP:0002518 rdfs:label it Morfologia anomala della sostanza bianca periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypsarrhythmia HP:0002521 rdfs:label it Ipsaritmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Areflexia of lower limbs HP:0002522 rdfs:label it Areflessia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Falls HP:0002527 rdfs:label it Cadute CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neuronal loss in central nervous system HP:0002529 rdfs:label it Perdita di neuroni nel sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Axial dystonia HP:0002530 rdfs:label it Distonia assiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cortical gyration HP:0002536 rdfs:label it Anomalia della rotazione corticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cerebral cortex morphology HP:0002538 rdfs:label it Morfologia anomala della corteccia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cortical dysplasia HP:0002539 rdfs:label it Displasia corticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inability to walk HP:0002540 rdfs:label it Incapacità di camminare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retrocollis HP:0002544 rdfs:label it Retrocollis CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Parkinsonism with favorable response to dopaminergic medication HP:0002548 rdfs:label it Parkinsonismo con risposta favorevole ai farmaci dopaminergici OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Highly arched eyebrow HP:0002553 rdfs:label it Sopracciglio molto arcuato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic nipples HP:0002557 rdfs:label it Capezzoli ipoplasici OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Supernumerary nipple HP:0002558 rdfs:label it Capezzolo soprannumerario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent nipple HP:0002561 rdfs:label it Assenza del capezzolo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Low-set nipples HP:0002562 rdfs:label it Capezzoli poco pronunciati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intestinal malrotation HP:0002566 rdfs:label it Malrotazione intestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Steatorrhea HP:0002570 rdfs:label it Steatorrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Episodic vomiting HP:0002572 rdfs:label it Vomito episodico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hematochezia HP:0002573 rdfs:label it Ematochezia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tracheoesophageal fistula HP:0002575 rdfs:label it Fistola tracheo-esofagea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastroparesis HP:0002578 rdfs:label it Gastroparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastrointestinal dysmotility HP:0002579 rdfs:label it Dismotilità gastrointestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Volvulus HP:0002580 rdfs:label it Volvolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Colitis HP:0002583 rdfs:label it Colite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Peritonitis HP:0002586 rdfs:label it Peritonite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Duodenal ulcer HP:0002588 rdfs:label it Ulcera duodenale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastrointestinal atresia HP:0002589 rdfs:label it Atresia gastrointestinale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Paralytic ileus HP:0002590 rdfs:label it Ileo paralitico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polyphagia HP:0002591 rdfs:label it Polifagia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intestinal lymphangiectasia HP:0002593 rdfs:label it Linfangectasia intestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Head titubation HP:0002599 rdfs:label it Titubazione della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyporeflexia of lower limbs HP:0002600 rdfs:label it Iporeflessia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bowel incontinence HP:0002607 rdfs:label it Incontinenza intestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Celiac disease HP:0002608 rdfs:label it Malattia celiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic root aneurysm HP:0002616 rdfs:label it Aneurisma della radice aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Varicose veins HP:0002619 rdfs:label it Vene varicose CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overriding aorta HP:0002623 rdfs:label it Destroposizione aortica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Vasculitis HP:0002633 rdfs:label it Vasculite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arteriosclerosis HP:0002634 rdfs:label it Arteriosclerosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral ischemia HP:0002637 rdfs:label it Ischemia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neonatal respiratory distress HP:0002643 rdfs:label it Distress respiratorio neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wormian bones HP:0002645 rdfs:label it Ossa wormiane CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic dissection HP:0002647 rdfs:label it Dissezione aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scoliosis HP:0002650 rdfs:label it Scoliosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spondyloepimetaphyseal dysplasia HP:0002651 rdfs:label it Displasia spondiloepimetafisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Skeletal dysplasia HP:0002652 rdfs:label it Displasia scheletrica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bone pain HP:0002653 rdfs:label it Dolore osseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spondyloepiphyseal dysplasia HP:0002655 rdfs:label it Displasia spondiloepifisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epiphyseal dysplasia HP:0002656 rdfs:label it Displasia epifisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed epiphyseal ossification HP:0002663 rdfs:label it Ossificazione epifisaria ritardata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Neoplasm HP:0002664 rdfs:label it Neoplasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pheochromocytoma HP:0002666 rdfs:label it Feocromocitoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteosarcoma HP:0002669 rdfs:label it Osteosarcoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Basal cell carcinoma HP:0002671 rdfs:label it Carcinoma basocellulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coxa valga HP:0002673 rdfs:label it Coxa valga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cloverleaf skull HP:0002676 rdfs:label it Cranio a quadrifoglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small foramen magnum HP:0002677 rdfs:label it Forame magnum piccolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en J-shaped sella turcica HP:0002680 rdfs:label it Sella turcica a forma di J CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal calvaria morphology HP:0002683 rdfs:label it Morfologia anomala della calvaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened calvaria HP:0002684 rdfs:label it Calvario ispessito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Large sella turcica HP:0002690 rdfs:label it Grande sella turcica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Platybasia HP:0002691 rdfs:label it Platybasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sclerosis of skull base HP:0002694 rdfs:label it Sclerosi della base cranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Parietal foramina HP:0002697 rdfs:label it Foramina parietale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High, narrow palate HP:0002705 rdfs:label it Palato alto e stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Downturned corners of mouth HP:0002714 rdfs:label it Angoli della bocca inclinati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphadenopathy HP:0002716 rdfs:label it Linfoadenopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent bacterial infections HP:0002718 rdfs:label it Infezioni batteriche ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent infections HP:0002719 rdfs:label it Infezioni ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating IgA level HP:0002720 rdfs:label it Diminuzione del livello di IgA circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Immunodeficiency HP:0002721 rdfs:label it Immunodeficienza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent abscess formation HP:0002722 rdfs:label it Formazione di ascessi ricorrenti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Systemic lupus erythematosus HP:0002725 rdfs:label it Lupus eritematoso sistemico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent Staphylococcus aureus infections HP:0002726 rdfs:label it Infezioni ricorrenti da Staphylococcus aureus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic mucocutaneous candidiasis HP:0002728 rdfs:label it Candidosi cronica mucocutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oral leukoplakia HP:0002745 rdfs:label it Leucoplachia orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory insufficiency due to muscle weakness HP:0002747 rdfs:label it Insufficienza respiratoria dovuta a debolezza muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rickets HP:0002748 rdfs:label it Rachitismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed skeletal maturation HP:0002750 rdfs:label it Ritardo nella maturazione dello scheletro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Kyphoscoliosis HP:0002751 rdfs:label it cifoscoliosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin bony cortex HP:0002753 rdfs:label it Corteccia ossea sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteomyelitis HP:0002754 rdfs:label it Osteomielite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent fractures HP:0002757 rdfs:label it Fratture ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteoarthritis HP:0002758 rdfs:label it Osteoartrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized joint hypermobility HP:0002761 rdfs:label it Ipermobilità articolare generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple exostoses HP:0002762 rdfs:label it Esostosi multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tracheomalacia HP:0002779 rdfs:label it Tracheomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bronchomalacia HP:0002780 rdfs:label it Broncomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent lower respiratory tract infections HP:0002783 rdfs:label it Infezioni ricorrenti del tratto respiratorio inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tracheobronchomalacia HP:0002786 rdfs:label it Tracheobroncomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent upper respiratory tract infections HP:0002788 rdfs:label it Infezioni ricorrenti del tratto respiratorio superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tachypnea HP:0002789 rdfs:label it Tachipnea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoventilation HP:0002791 rdfs:label it Ipoventilazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced vital capacity HP:0002792 rdfs:label it Riduzione della capacità vitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal pattern of respiration HP:0002793 rdfs:label it Modello anomalo di respirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal respiratory system physiology HP:0002795 rdfs:label it Fisiologia anomala del sistema respiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arthrogryposis multiplex congenita HP:0002804 rdfs:label it Artrogriposi multipla congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Kyphosis HP:0002808 rdfs:label it Cifosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coxa vara HP:0002812 rdfs:label it Coxa vara CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Genu recurvatum HP:0002816 rdfs:label it Genu recurvatum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperplasia of the femoral trochanters HP:0002822 rdfs:label it Iperplasia dei trocanteri femorali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip dislocation HP:0002827 rdfs:label it Lussazione dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple joint contractures HP:0002828 rdfs:label it Contratture articolari multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arthralgia HP:0002829 rdfs:label it Artralgia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flared femoral metaphysis HP:0002834 rdfs:label it Metafisi femorali svasate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aspiration HP:0002835 rdfs:label it Aspirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent bronchitis HP:0002837 rdfs:label it Bronchite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphadenitis HP:0002840 rdfs:label it Linfadenite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent fungal infections HP:0002841 rdfs:label it Infezioni fungine ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating total IgM HP:0002850 rdfs:label it Diminuzione delle IgM totali circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells HP:0002851 rdfs:label it Elevata percentuale di cellule T regolatorie CD4-negative, CD8-negative e alfa-beta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Genu valgum HP:0002857 rdfs:label it Genu valgum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Meningioma HP:0002858 rdfs:label it Meningioma OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Squamous cell carcinoma HP:0002860 rdfs:label it Carcinoma a cellule squamose CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myelodysplasia HP:0002863 rdfs:label it Mielodisplasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Medullary thyroid carcinoma HP:0002865 rdfs:label it Carcinoma midollare della tiroide OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoplastic iliac wing HP:0002866 rdfs:label it Ala iliaca ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal ilium morphology HP:0002867 rdfs:label it Morfologia anomala dell'ileo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Obstructive sleep apnea HP:0002870 rdfs:label it Apnea ostruttiva del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central apnea HP:0002871 rdfs:label it Apnea centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exertional dyspnea HP:0002875 rdfs:label it Dispnea da sforzo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory failure HP:0002878 rdfs:label it Insufficienza respiratoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sudden episodic apnea HP:0002882 rdfs:label it Apnea episodica improvvisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperventilation HP:0002883 rdfs:label it Iperventilazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ependymoma HP:0002888 rdfs:label it Ependimoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pituitary adenoma HP:0002893 rdfs:label it Adenoma ipofisario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypokalemia HP:0002900 rdfs:label it Ipokaliemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypocalcemia HP:0002901 rdfs:label it Ipocalcemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyponatremia HP:0002902 rdfs:label it Iponatremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperbilirubinemia HP:0002904 rdfs:label it Iperbilirubinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperphosphatemia HP:0002905 rdfs:label it Iperfosfatemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microscopic hematuria HP:0002907 rdfs:label it Ematuria microscopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Conjugated hyperbilirubinemia HP:0002908 rdfs:label it Iperbilirubinemia coniugata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized aminoaciduria HP:0002909 rdfs:label it Amminoaciduria generalizzata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating hepatic transaminase concentration HP:0002910 rdfs:label it Elevata concentrazione di transaminasi epatiche circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Methylmalonic acidemia HP:0002912 rdfs:label it Acidemia metilmalonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myoglobinuria HP:0002913 rdfs:label it Mioglobinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypomagnesemia HP:0002917 rdfs:label it Ipomagnesiemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ketonuria HP:0002919 rdfs:label it Chetonuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cerebrospinal fluid morphology HP:0002921 rdfs:label it Morfologia anomala del liquido cerebrospinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased CSF protein concentration HP:0002922 rdfs:label it Aumento della concentrazione proteica nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rheumatoid factor positive HP:0002923 rdfs:label it Fattore reumatoide positivo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating thyroid-stimulating hormone concentration HP:0002925 rdfs:label it Elevata concentrazione di ormone stimolante la tiroide in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased activity of the pyruvate dehydrogenase complex HP:0002928 rdfs:label it Diminuzione dell'attività del complesso piruvato deidrogenasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventral hernia HP:0002933 rdfs:label it Ernia ventrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Distal sensory impairment HP:0002936 rdfs:label it Compromissione della sensibilità distale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hemivertebrae HP:0002937 rdfs:label it Emivertebre CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lumbar hyperlordosis HP:0002938 rdfs:label it Iperlordosi lombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracic kyphosis HP:0002942 rdfs:label it cifosi toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracic scoliosis HP:0002943 rdfs:label it Scoliosi toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracolumbar scoliosis HP:0002944 rdfs:label it Scoliosi toracolombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cervical kyphosis HP:0002947 rdfs:label it cifosi cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertebral fusion HP:0002948 rdfs:label it Fusione vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fused cervical vertebrae HP:0002949 rdfs:label it Vertebre cervicali fuse CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Partial absence of cerebellar vermis HP:0002951 rdfs:label it Assenza parziale del verme cerebellare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Vertebral compression fracture HP:0002953 rdfs:label it Frattura da compressione vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Autoimmunity HP:0002960 rdfs:label it Autoimmunità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cubitus valgus HP:0002967 rdfs:label it Cubito valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Genu varum HP:0002970 rdfs:label it Genu varum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Radioulnar synostosis HP:0002974 rdfs:label it Sinostosi radioulnare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bowing of the legs HP:0002979 rdfs:label it Inarcamento delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Femoral bowing HP:0002980 rdfs:label it Arcuatura femorale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tibial bowing HP:0002982 rdfs:label it Arco tibiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the radius HP:0002984 rdfs:label it Ipoplasia del radio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Radial bowing HP:0002986 rdfs:label it Arcuatura radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elbow flexion contracture HP:0002987 rdfs:label it Contrazione della flessione del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited elbow movement HP:0002996 rdfs:label it Movimento limitato del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patellar dislocation HP:0002999 rdfs:label it Lussazione della rotula CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Breast carcinoma HP:0003002 rdfs:label it Carcinoma della mammella OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Colon cancer HP:0003003 rdfs:label it Cancro del colon CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neuroblastoma HP:0003006 rdfs:label it Neuroblastoma OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Prolonged bleeding time HP:0003010 rdfs:label it Tempo di sanguinamento prolungato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Flared metaphysis HP:0003015 rdfs:label it Metafisi svasata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Metaphyseal widening HP:0003016 rdfs:label it Allargamento della metafisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Metaphyseal cupping HP:0003021 rdfs:label it "Deformazione ""a coppa"" delle metafisi" CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoplasia of the ulna HP:0003022 rdfs:label it Ipoplasia dell'ulna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bowing of limbs due to multiple fractures HP:0003023 rdfs:label it Inarcamento degli arti dovuto a fratture multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Metaphyseal irregularity HP:0003025 rdfs:label it Irregolarità della metafisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short long bone HP:0003026 rdfs:label it Osso lungo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mesomelia HP:0003027 rdfs:label it Mesomelia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ulnar bowing HP:0003031 rdfs:label it Inarcamento ulnare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fibular hypoplasia HP:0003038 rdfs:label it Ipoplasia fibulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elbow dislocation HP:0003042 rdfs:label it Lussazione del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder flexion contracture HP:0003044 rdfs:label it Contrazione della flessione della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Radial head subluxation HP:0003048 rdfs:label it Sublussazione della testa radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patellar hypoplasia HP:0003065 rdfs:label it Ipoplasia rotulea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited knee extension HP:0003066 rdfs:label it Limitata estensione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Madelung deformity HP:0003067 rdfs:label it Deformità del madelungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypercalcemia HP:0003072 rdfs:label it Ipercalcemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoalbuminemia HP:0003073 rdfs:label it Ipoalbuminemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperglycemia HP:0003074 rdfs:label it Iperglicemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoproteinemia HP:0003075 rdfs:label it Ipoproteinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glycosuria HP:0003076 rdfs:label it Glicosuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperlipidemia HP:0003077 rdfs:label it Iperlipidemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dislocated radial head HP:0003083 rdfs:label it Dislocazione della testa radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hamstring contractures HP:0003089 rdfs:label it Contratture degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the capital femoral epiphysis HP:0003090 rdfs:label it Ipoplasia dell'epifisi femorale capitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short femur HP:0003097 rdfs:label it Femore corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slender long bone HP:0003100 rdfs:label it Osso lungo sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperglycinuria HP:0003108 rdfs:label it Iperglicinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperphosphaturia HP:0003109 rdfs:label it Iperfosfaturia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal circulating amino acid concentration HP:0003112 rdfs:label it Concentrazione anormale di aminoacidi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypochloremia HP:0003113 rdfs:label it Ipocloremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal EKG HP:0003115 rdfs:label it ECG anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating cortisol level HP:0003118 rdfs:label it Aumentati livelli di cortisolo circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Limb joint contracture HP:0003121 rdfs:label it Contrattura dell'articolazione degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypercholesterolemia HP:0003124 rdfs:label it Ipercolesterolemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low-molecular-weight proteinuria HP:0003126 rdfs:label it proteinuria a basso peso molecolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypocalciuria HP:0003127 rdfs:label it Ipocalciuria OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lactic acidosis HP:0003128 rdfs:label it Acidosi lattica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased blood urea nitrogen HP:0003138 rdfs:label it Azoto ureico ematico elevato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased LDL cholesterol concentration HP:0003141 rdfs:label it Aumento della concentrazione di colesterolo LDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypocholesterolemia HP:0003146 rdfs:label it Ipocolesterolemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperuricosuria HP:0003149 rdfs:label it Iperuricosuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glutaric aciduria HP:0003150 rdfs:label it Aciduria glutarica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating alkaline phosphatase concentration HP:0003155 rdfs:label it Elevata concentrazione di fosfatasi alcalina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyposthenuria HP:0003158 rdfs:label it Ipostenuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperoxaluria HP:0003159 rdfs:label it Iperossaluria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal isoelectric focusing of serum transferrin HP:0003160 rdfs:label it Focalizzazione isoelettrica anormale della transferrina sierica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating parathyroid hormone level HP:0003165 rdfs:label it Elevato livello di ormone paratiroideo circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased urinary taurine HP:0003166 rdfs:label it Aumento della taurina urinaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Squared iliac bones HP:0003177 rdfs:label it Ossa iliache squadrate CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Protrusio acetabuli HP:0003179 rdfs:label it Protrusio acetabuli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flat acetabular roof HP:0003180 rdfs:label it Tetto acetabolare piatto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shallow acetabular fossae HP:0003182 rdfs:label it Fosse acetabolari poco profonde CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide pubic symphysis HP:0003183 rdfs:label it Ampiezza della sinfisi pubica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased hip abduction HP:0003184 rdfs:label it Diminuzione dell'abduzione dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inverted nipples HP:0003186 rdfs:label it Capezzoli invertiti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long nose HP:0003189 rdfs:label it Naso lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft ala nasi HP:0003191 rdfs:label it Fenditura dell'ala nasale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Short nasal bridge HP:0003194 rdfs:label it Ponte nasale corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short nose HP:0003196 rdfs:label it Naso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myopathy HP:0003198 rdfs:label it Miopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ragged-red muscle fibers HP:0003200 rdfs:label it Fibre muscolari di colore rosso stracciato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rhabdomyolysis HP:0003201 rdfs:label it Rabdomiolisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Skeletal muscle atrophy HP:0003202 rdfs:label it Atrofia muscolare scheletrica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired oxidative burst HP:0003203 rdfs:label it Disturbo del burst ossidativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating IgE level HP:0003212 rdfs:label it Aumento del livello di IgE in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dicarboxylic aciduria HP:0003215 rdfs:label it Aciduria dicarbossilica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperglutaminemia HP:0003217 rdfs:label it Iperglutaminemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oroticaciduria HP:0003218 rdfs:label it Oroticaciduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chromosomal breakage induced by crosslinking agents HP:0003221 rdfs:label it Rottura cromosomica indotta da agenti reticolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypernatremia HP:0003228 rdfs:label it Ipernatremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertyrosinemia HP:0003231 rdfs:label it Iperrosinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased HDL cholesterol concentration HP:0003233 rdfs:label it Diminuzione della concentrazione di colesterolo HDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypermethioninemia HP:0003235 rdfs:label it Ipermetioninemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating creatine kinase concentration HP:0003236 rdfs:label it Elevata concentrazione di creatina chinasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating IgG level HP:0003237 rdfs:label it Aumento del livello di IgG circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en External genital hypoplasia HP:0003241 rdfs:label it Ipoplasia dei genitali esterni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Male infertility HP:0003251 rdfs:label it Infertilità maschile OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormality of the coagulation cascade HP:0003256 rdfs:label it Anomalia della cascata coagulativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating creatinine concentration HP:0003259 rdfs:label it Elevata concentrazione di creatinina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating IgA level HP:0003261 rdfs:label it Aumento del livello di IgA circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-smooth muscle antibody positivity HP:0003262 rdfs:label it Positività degli anticorpi anti-muscolo liscio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Neonatal hyperbilirubinemia HP:0003265 rdfs:label it Iperbilirubinemia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abdominal distention HP:0003270 rdfs:label it Distensione addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip contracture HP:0003273 rdfs:label it Contrattura dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating ferritin concentration HP:0003281 rdfs:label it Aumento della concentrazione di ferritina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spina bifida occulta HP:0003298 rdfs:label it Spina bifida occulta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ovoid vertebral bodies HP:0003300 rdfs:label it Corpi vertebrali ovoidali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Irregular vertebral endplates HP:0003301 rdfs:label it Piastre vertebrali irregolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spondylolisthesis HP:0003302 rdfs:label it Spondilolistesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spinal rigidity HP:0003306 rdfs:label it Rigidità spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperlordosis HP:0003307 rdfs:label it Iperlordosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the odontoid process HP:0003311 rdfs:label it Ipoplasia del processo odontoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Butterfly vertebrae HP:0003316 rdfs:label it Vertebre a farfalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the cervical spine HP:0003319 rdfs:label it Anomalia del rachide cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en C1-C2 subluxation HP:0003320 rdfs:label it Sublussazione atlanto-assiale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Progressive muscle weakness HP:0003323 rdfs:label it Debolezza muscolare progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized muscle weakness HP:0003324 rdfs:label it Debolezza muscolare generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myalgia HP:0003326 rdfs:label it Mialgia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Axial muscle weakness HP:0003327 rdfs:label it Debolezza muscolare assiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lamina lucida cleavage HP:0003341 rdfs:label it Scissione della lamina lucida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 3-Methylglutaric aciduria HP:0003344 rdfs:label it Aciduria 3-metilglutarica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired lymphocyte transformation with phytohemagglutinin HP:0003347 rdfs:label it Alterata trasformazione dei linfociti con fitoemoagglutinina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperalaninemia HP:0003348 rdfs:label it Iperalaninemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low cholesterol esterification rate HP:0003349 rdfs:label it Bassa velocità di esterificazione del colesterolo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aminoaciduria HP:0003355 rdfs:label it Aminoaciduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased VLDL cholesterol concentration HP:0003362 rdfs:label it Aumento della concentrazione di colesterolo VLDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abdominal situs inversus HP:0003363 rdfs:label it Situs inversus addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Steppage gait HP:0003376 rdfs:label it Andatura steppante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased number of peripheral myelinated nerve fibers HP:0003380 rdfs:label it Diminuzione del numero di fibre nervose periferiche mielinizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Easy fatigability HP:0003388 rdfs:label it Facilità di affaticamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sensory axonal neuropathy HP:0003390 rdfs:label it Neuropatia assonale sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gowers sign HP:0003391 rdfs:label it Segno di Gowers CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thenar muscle atrophy HP:0003393 rdfs:label it Atrofia del muscolo Thenar CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle spasm HP:0003394 rdfs:label it Spasmo muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Syringomyelia HP:0003396 rdfs:label it Siringomielia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Basal lamina onion bulb formation HP:0003400 rdfs:label it Formazione di bulbi di cipolla della lamina basale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Paresthesia HP:0003401 rdfs:label it Parestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EMG: decremental response of compound muscle action potential to repetitive nerve stimulation HP:0003403 rdfs:label it EMG: risposta decrescente del potenziale d'azione del muscolo composto alla stimolazione nervosa ripetitiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spinal canal stenosis HP:0003416 rdfs:label it Stenosi del canale spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Conical tooth HP:0000698 rdfs:label it Dente conico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Conjugated hyperbilirubinemia HP:0002908 rdfs:label it Iperbilirubinemia coniugata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Conjunctival icterus HP:0032106 rdfs:label it Ittero congiuntivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Conjunctivitis HP:0000509 rdfs:label it Congiuntivite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Constipation HP:0002019 rdfs:label it Costipazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Constriction of peripheral visual field HP:0001133 rdfs:label it Costrizione del campo visivo periferico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Constrictive median neuropathy HP:0012185 rdfs:label it Neuropatia mediana costrittiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Continuous spike and waves during slow sleep HP:0031491 rdfs:label it Spike e onde continue durante il sonno lento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Contracture of the proximal interphalangeal joint of the 4th finger HP:0009276 rdfs:label it Contrattura dell'articolazione interfalangea prossimale del 4° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Contracture of the proximal interphalangeal joint of the 5th finger HP:0009185 rdfs:label it Contrattura dell'articolazione interfalangea prossimale del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Contractures of the large joints HP:0005781 rdfs:label it Contratture delle grandi articolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Convex nasal ridge HP:0000444 rdfs:label it Cresta nasale convessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Convulsive status epilepticus HP:0032660 rdfs:label it Stato epilettico convulsivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coombs-positive hemolytic anemia HP:0004844 rdfs:label it Anemia emolitica Coombs-positiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Copper accumulation in liver HP:0025321 rdfs:label it Accumulo di rame nel fegato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cor triatrium sinister HP:0031134 rdfs:label it Cor triatrium sinister CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Corneal dystrophy HP:0001131 rdfs:label it Distrofia corneale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Corneal guttata HP:0012038 rdfs:label it Guttata corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Corneal opacity HP:0007957 rdfs:label it Opacità corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Corneal scarring HP:0000559 rdfs:label it Cicatrici corneali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Corneal ulceration HP:0012804 rdfs:label it Ulcerazione corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Coronal cleft vertebrae HP:0003417 rdfs:label it Spaccatura coronale delle vertebre CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Back pain HP:0003418 rdfs:label it Mal di schiena CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low back pain HP:0003419 rdfs:label it Dolore lombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertebral segmentation defect HP:0003422 rdfs:label it Difetto di segmentazione vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en CNS hypomyelination HP:0003429 rdfs:label it Ipomielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased motor nerve conduction velocity HP:0003431 rdfs:label it Diminuzione della velocità di conduzione dei nervi motori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent Achilles reflex HP:0003438 rdfs:label it Riflesso d'Achille assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased sensory nerve conduction velocity HP:0003448 rdfs:label it Diminuzione della velocità di conduzione del nervo sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating iron concentration HP:0003452 rdfs:label it Aumentata concentrazione di ferro circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Antineutrophil antibody positivity HP:0003453 rdfs:label it Positività degli anticorpi anti-neutrofili OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en EMG: myopathic abnormalities HP:0003458 rdfs:label it EMG: anomalie miopatiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated 8-dehydrocholesterol HP:0003462 rdfs:label it Elevata concentrazione di 8-deidrocolesterolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal vertebral morphology HP:0003468 rdfs:label it Morfologia vertebrale anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypocalcemic tetany HP:0003472 rdfs:label it Tetania ipocalcemica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Fatigable weakness HP:0003473 rdfs:label it Debolezza affaticabile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Somatic sensory dysfunction HP:0003474 rdfs:label it Disfunzione sensoriale somatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peripheral axonal neuropathy HP:0003477 rdfs:label it Neuropatia assonale periferica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper limb muscle weakness HP:0003484 rdfs:label it Debolezza muscolare degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Babinski sign HP:0003487 rdfs:label it Segno di Babinski CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Antinuclear antibody positivity HP:0003493 rdfs:label it Positività agli anticorpi antinucleari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating IgM level HP:0003496 rdfs:label it Aumento del livello di IgM circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mild short stature HP:0003502 rdfs:label it Bassa statura lieve CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proportionate short stature HP:0003508 rdfs:label it Bassa statura proporzionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe short stature HP:0003510 rdfs:label it Grave bassa statura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Disproportionate short-trunk short stature HP:0003521 rdfs:label it Statura bassa sproporzionata rispetto al tronco CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating calcitonin concentration HP:0003528 rdfs:label it Elevata concentrazione di calcitonina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 3-Methylglutaconic aciduria HP:0003535 rdfs:label it Aciduria 3-metilglutaconica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased iduronate sulfatase level HP:0003538 rdfs:label it Aumentati livelli di iduronato solfatasi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased serum pyruvate HP:0003542 rdfs:label it Aumento del piruvato sierico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exercise intolerance HP:0003546 rdfs:label it Intolleranza all'esercizio fisico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder girdle muscle weakness HP:0003547 rdfs:label it Debolezza dei muscoli del cingolo scapolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Difficulty climbing stairs HP:0003551 rdfs:label it Difficoltà a salire le scale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle stiffness HP:0003552 rdfs:label it Rigidità muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle fiber splitting HP:0003555 rdfs:label it Scissione delle fibre muscolari CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased variability in muscle fiber diameter HP:0003557 rdfs:label it Aumento della variabilità del diametro delle fibre muscolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscular dystrophy HP:0003560 rdfs:label it Distrofia muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Birth length less than 3rd percentile HP:0003561 rdfs:label it Lunghezza alla nascita inferiore al 3° percentile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated erythrocyte sedimentation rate HP:0003565 rdfs:label it Velocità di eritrosedimentazione elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased total bilirubin HP:0003573 rdfs:label it Aumento della bilirubina totale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Infantile onset HP:0003593 rdfs:label it Insorgenza infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Foam cells with lamellar inclusion bodies HP:0003609 rdfs:label it Cellule schiumose con corpi di inclusione lamellari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neonatal onset HP:0003623 rdfs:label it Insorgenza neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Loss of subcutaneous adipose tissue in limbs HP:0003635 rdfs:label it Perdita di tessuto adiposo sottocutaneo negli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Type I transferrin isoform profile HP:0003642 rdfs:label it Profilo dell'isoforma di transferrina di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lacticaciduria HP:0003648 rdfs:label it Lacticaciduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Foam cells HP:0003651 rdfs:label it Cellule schiumose OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Progressive HP:0003676 rdfs:label it Progressivo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Centrally nucleated skeletal muscle fibers HP:0003687 rdfs:label it Fibre muscolari scheletriche a nucleazione centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cytochrome C oxidase-negative muscle fibers HP:0003688 rdfs:label it Fibre muscolari citocromo C ossidasi-negative CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple mitochondrial DNA deletions HP:0003689 rdfs:label it Delezioni multiple del DNA mitocondriale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Limb muscle weakness HP:0003690 rdfs:label it Debolezza muscolare degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scapular winging HP:0003691 rdfs:label it Allineamento scapolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal amyotrophy HP:0003693 rdfs:label it Amiotrofia distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scapuloperoneal amyotrophy HP:0003697 rdfs:label it Amiotrofia scapolo-peroneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Difficulty standing HP:0003698 rdfs:label it Difficoltà a stare in piedi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Generalized amyotrophy HP:0003700 rdfs:label it Amiotrofia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal muscle weakness HP:0003701 rdfs:label it Debolezza muscolare prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Calf muscle pseudohypertrophy HP:0003707 rdfs:label it Pseudoipertrofia del muscolo del polpaccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Skeletal muscle hypertrophy HP:0003712 rdfs:label it Ipertrofia del muscolo scheletrico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle fiber necrosis HP:0003713 rdfs:label it Necrosi delle fibre muscolari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Generalized muscle hypertrophy HP:0003720 rdfs:label it Ipertrofia muscolare generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neck flexor weakness HP:0003722 rdfs:label it Debolezza dei flessori del collo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder girdle muscle atrophy HP:0003724 rdfs:label it Atrofia dei muscoli del cingolo scapolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exercise-induced myalgia HP:0003738 rdfs:label it Mialgia indotta dall'esercizio fisico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myoclonic spasms HP:0003739 rdfs:label it Spasmi mioclonici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pelvic girdle muscle weakness HP:0003749 rdfs:label it Debolezza dei muscoli del cingolo pelvico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced subcutaneous adipose tissue HP:0003758 rdfs:label it Riduzione del tessuto adiposo sottocutaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Percussion-induced rapid rolling muscle contractions HP:0003760 rdfs:label it Contrazioni muscolari rapide da rotolamento indotte da percussione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Uterus didelphys HP:0003762 rdfs:label it Utero didelfo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bruxism HP:0003763 rdfs:label it Bruxismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nevus HP:0003764 rdfs:label it Nevo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Psoriasiform dermatitis HP:0003765 rdfs:label it Dermatite psoriasiforme CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stage 5 chronic kidney disease HP:0003774 rdfs:label it Malattia renale cronica al 5° stadio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pili torti HP:0003777 rdfs:label it Pili torti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased CSF homovanillic acid concentration HP:0003785 rdfs:label it Diminuzione della concentrazione di acido omovanillico nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Irregular iliac crest HP:0003796 rdfs:label it Cresta iliaca irregolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nemaline bodies HP:0003798 rdfs:label it Corpi nemalici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Marked delay in bone age HP:0003799 rdfs:label it Marcato ritardo nell'età ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Type 1 muscle fiber predominance HP:0003803 rdfs:label it Predominanza di fibre muscolari di tipo 1 CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rimmed vacuoles HP:0003805 rdfs:label it Vacuoli cerchiati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal muscle tone HP:0003808 rdfs:label it Tono muscolare anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Death in childhood HP:0003819 rdfs:label it Morte nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder dislocation HP:0003834 rdfs:label it Lussazione della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Humeral cortical thickening HP:0003868 rdfs:label it Ispessimento corticale omerale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent radius HP:0003974 rdfs:label it Raggio assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the ulna HP:0003982 rdfs:label it Aplasia dell'ulna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hand monodactyly HP:0004058 rdfs:label it Monodattilia della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Trident hand HP:0004060 rdfs:label it Mano a tridente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clinodactyly of the 5th finger HP:0004209 rdfs:label it Clinodattilia del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short middle phalanx of the 5th finger HP:0004220 rdfs:label it Falange media corta del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short distal phalanx of the 5th finger HP:0004227 rdfs:label it Falange distale corta del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Accessory carpal bones HP:0004232 rdfs:label it Ossa carpali accessorie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Advanced ossification of carpal bones HP:0004233 rdfs:label it Ossificazione avanzata delle ossa carpali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short palm HP:0004279 rdfs:label it Palmo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow palm HP:0004283 rdfs:label it Palmo della mano stretto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pseudoepiphyses of hand bones HP:0004288 rdfs:label it Pseudoepifisi delle ossa della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Subluxation of metacarpal phalangeal joints HP:0004294 rdfs:label it Sublussazione delle articolazioni metacarpo-falangee CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Involuntary movements HP:0004305 rdfs:label it Movimenti involontari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventricular arrhythmia HP:0004308 rdfs:label it Aritmia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating antibody level HP:0004313 rdfs:label it Diminuzione del livello di anticorpi circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating IgG level HP:0004315 rdfs:label it Diminuzione del livello di IgG circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short stature HP:0004322 rdfs:label it Bassa statura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased body weight HP:0004324 rdfs:label it Aumento del peso corporeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased body weight HP:0004325 rdfs:label it Diminuzione del peso corporeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cachexia HP:0004326 rdfs:label it Cachessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dermal atrophy HP:0004334 rdfs:label it Atrofia cutanea OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced bone mineral density HP:0004349 rdfs:label it Ridotta densità minerale ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating calcium concentration HP:0004363 rdfs:label it Concentrazione anormale di calcio in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal dystonia HP:0004373 rdfs:label it Distonia focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemiplegia/hemiparesis HP:0004374 rdfs:label it Emiplegia/emiparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of alkaline phosphatase level HP:0004379 rdfs:label it Anomalia del livello di fosfatasi alcalina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Supravalvular aortic stenosis HP:0004381 rdfs:label it Stenosi aortica sopravalvolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic left heart HP:0004383 rdfs:label it Cuore sinistro ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Type I truncus arteriosus HP:0004384 rdfs:label it Truncus arteriosus di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Protracted diarrhea HP:0004385 rdfs:label it Diarrea prolungata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hamartomatous polyposis HP:0004390 rdfs:label it Poliposi amartomatosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Malnutrition HP:0004395 rdfs:label it Malnutrizione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor appetite HP:0004396 rdfs:label it Scarso appetito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent nipples HP:0004405 rdfs:label it Capezzoli prominenti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Spontaneous, recurrent epistaxis HP:0004406 rdfs:label it Epistassi spontanea ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bony paranasal bossing HP:0004407 rdfs:label it Bordi ossei paranasali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyposmia HP:0004409 rdfs:label it Iposmia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pulmonary artery stenosis HP:0004415 rdfs:label it Stenosi dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Precocious atherosclerosis HP:0004416 rdfs:label it Aterosclerosi precoce CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intermittent claudication HP:0004417 rdfs:label it Claudicazione intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent thrombophlebitis HP:0004419 rdfs:label it Tromboflebite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated systolic blood pressure HP:0004421 rdfs:label it Pressione sanguigna sistolica elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flat forehead HP:0004425 rdfs:label it Fronte piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elfin facies HP:0004428 rdfs:label it Facies elfica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Recurrent viral infections HP:0004429 rdfs:label it Infezioni virali ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe combined immunodeficiency HP:0004430 rdfs:label it Immunodeficienza combinata grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cranial hyperostosis HP:0004437 rdfs:label it Iperostosi cranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Coronal craniosynostosis HP:0004440 rdfs:label it Craniosinostosi coronale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sagittal craniosynostosis HP:0004442 rdfs:label it Craniosinostosi sagittale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lambdoidal craniosynostosis HP:0004443 rdfs:label it Craniosinostosi della sutura lambdoidea OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Spherocytosis HP:0004444 rdfs:label it Sferocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elliptocytosis HP:0004445 rdfs:label it Ellitocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stomatocytosis HP:0004446 rdfs:label it Stomatocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poikilocytosis HP:0004447 rdfs:label it Poichilocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fulminant hepatic failure HP:0004448 rdfs:label it Insufficienza epatica fulminante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postauricular skin tag HP:0004451 rdfs:label it Tag cutanea postauricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Preauricular pit HP:0004467 rdfs:label it Fossa preauricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic bronchitis HP:0004469 rdfs:label it Bronchite cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Persistent open anterior fontanelle HP:0004474 rdfs:label it Fontanella anteriore aperta persistente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Relative macrocephaly HP:0004482 rdfs:label it Macrocefalia relativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cessation of head growth HP:0004485 rdfs:label it Interruzione della crescita della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral choanal atresia HP:0004502 rdfs:label it Atresia della gola bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized hypertrichosis HP:0004554 rdfs:label it Ipertricosi generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe platyspondyly HP:0004565 rdfs:label it Platispondia grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pear-shaped vertebrae HP:0004566 rdfs:label it Vertebre a forma di pera CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Beaking of vertebral bodies HP:0004568 rdfs:label it Rottura dei corpi vertebrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased vertebral height HP:0004570 rdfs:label it Aumento dell'altezza vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracic platyspondyly HP:0004592 rdfs:label it Platispondia toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cervical C2/C3 vertebral fusion HP:0004602 rdfs:label it Fusione vertebrale cervicale C2/C3 CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Butterfly vertebral arch HP:0004617 rdfs:label it Arco vertebrale a farfalla CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Sandwich appearance of vertebral bodies HP:0004618 rdfs:label it Aspetto a sandwich dei corpi vertebrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged vertebral pedicles HP:0004621 rdfs:label it Peduncoli vertebrali ingrossati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the nasal bone HP:0004646 rdfs:label it Ipoplasia delle ossa nasali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased facial expression HP:0004673 rdfs:label it Riduzione dell'espressione facciale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Talipes valgus HP:0004684 rdfs:label it Talipe valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short fourth metatarsal HP:0004689 rdfs:label it Quarto metatarso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 2-3 toe syndactyly HP:0004691 rdfs:label it Sindattilia del 2-3 dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 4-5 toe syndactyly HP:0004692 rdfs:label it Sindattilia del quarto e quinto dito del piede OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Short fifth metatarsal HP:0004704 rdfs:label it Quinto metatarso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal malrotation HP:0004712 rdfs:label it Malrotazione renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperechogenic kidneys HP:0004719 rdfs:label it Reni iperecogeni OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Thickened glomerular basement membrane HP:0004722 rdfs:label it Membrana basale glomerulare ispessita OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired renal concentrating ability HP:0004727 rdfs:label it Ridotta capacità di concentrazione renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired renal uric acid clearance HP:0004732 rdfs:label it Alterata clearance renale dell'acido urico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Coronary artery fistula HP:0011641 rdfs:label it Fistola coronarica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Corpus callosum atrophy HP:0007371 rdfs:label it Atrofia del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cortical cataract HP:0100019 rdfs:label it Cataratta corticale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cortical dysplasia HP:0002539 rdfs:label it Displasia corticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cortical thickening of long bone diaphyses HP:0005791 rdfs:label it Ispessimento corticale delle diafisi delle ossa lunghe OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cortical tubers HP:0009717 rdfs:label it Tuberi corticali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cough HP:0012735 rdfs:label it Tosse CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cow milk allergy HP:0100327 rdfs:label it Allergia al latte vaccino CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coxa valga HP:0002673 rdfs:label it Coxa valga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Coxa vara HP:0002812 rdfs:label it Coxa vara CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cranial hyperostosis HP:0004437 rdfs:label it Iperostosi cranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Craniosynostosis HP:0001363 rdfs:label it Craniosinostosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Crohn's disease HP:0100280 rdfs:label it Malattia di Crohn CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Crossed fused renal ectopia HP:0004736 rdfs:label it Ectopia renale fusa incrociata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrial flutter HP:0004749 rdfs:label it Flutter atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Supraventricular tachycardia HP:0004755 rdfs:label it Tachicardia sopraventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventricular tachycardia HP:0004756 rdfs:label it Tachicardia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Paroxysmal atrial fibrillation HP:0004757 rdfs:label it Fibrillazione atriale parossistica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Effort-induced polymorphic ventricular tachycardia HP:0004758 rdfs:label it Tachicardia ventricolare polimorfa indotta dallo sforzo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoplasia of right ventricle HP:0004762 rdfs:label it Ipoplasia del ventricolo destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brittle scalp hair HP:0004779 rdfs:label it Capelli fragili del cuoio capelluto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elbow hypertrichosis HP:0004780 rdfs:label it Ipertricosi del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute myeloid leukemia HP:0004808 rdfs:label it Leucemia mieloide acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anisopoikilocytosis HP:0004823 rdfs:label it Anisopoikilocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypochromic microcytic anemia HP:0004840 rdfs:label it Anemia ipocromica microcitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coombs-positive hemolytic anemia HP:0004844 rdfs:label it Anemia emolitica Coombs-positiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced protein S activity HP:0004855 rdfs:label it Ridotta attività della proteina S CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired ADP-induced platelet aggregation HP:0004866 rdfs:label it Compromissione dell'aggregazione piastrinica indotta da ADP CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intermittent hyperventilation HP:0004879 rdfs:label it Iperventilazione intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory failure requiring assisted ventilation HP:0004887 rdfs:label it Insufficienza respiratoria che richiede ventilazione assistita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laryngotracheal stenosis HP:0004894 rdfs:label it Stenosi laringotracheale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Severe lactic acidosis HP:0004900 rdfs:label it Acidosi lattica grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Maturity-onset diabetes of the young HP:0004904 rdfs:label it Diabete giovanile ad insorgenza matura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypernatremic dehydration HP:0004906 rdfs:label it Disidratazione ipernatriemica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperchloremic metabolic acidosis HP:0004918 rdfs:label it Acidosi metabolica ipercloremica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperphenylalaninemia HP:0004923 rdfs:label it Iperfenilalaninemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary artery dilatation HP:0004927 rdfs:label it Dilatazione dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ascending aortic dissection HP:0004933 rdfs:label it Dissezione aortica ascendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary artery atresia HP:0004935 rdfs:label it Atresia dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary artery aneurysm HP:0004937 rdfs:label it Aneurisma dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tortuous cerebral arteries HP:0004938 rdfs:label it Arterie cerebrali tortuose CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic aneurysm HP:0004942 rdfs:label it Aneurisma dell'aorta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilatation of the cerebral artery HP:0004944 rdfs:label it Dilatazione dell'arteria cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Crumpled ear HP:0009901 rdfs:label it Orecchio accartocciato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cryptococcal meningitis HP:0032160 rdfs:label it Meningite criptococcica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cryptorchidism HP:0000028 rdfs:label it Criptorchidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cubitus valgus HP:0002967 rdfs:label it Cubito valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cupped ear HP:0000378 rdfs:label it Orecchio a coppa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Curly eyelashes HP:0007665 rdfs:label it Ciglia arricciate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Curly hair HP:0002212 rdfs:label it Capelli ricci CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Curved linear dimple below the lower lip HP:0002055 rdfs:label it Fossetta lineare curva sotto il labbro inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous T-cell lymphoma HP:0012192 rdfs:label it Linfoma cutaneo a cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous abscess HP:0031292 rdfs:label it Ascesso cutaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous finger syndactyly HP:0010554 rdfs:label it Sindattilia cutanea delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous mastocytosis HP:0200151 rdfs:label it Mastocitosi cutanea OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cutaneous photosensitivity HP:0000992 rdfs:label it Fotosensibilità cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous sclerotic plaque HP:0031359 rdfs:label it Placca sclerotica cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous syndactyly HP:0012725 rdfs:label it Sindattilia cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutaneous syndactyly of toes HP:0010621 rdfs:label it Sindattilia cutanea delle dita dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutis laxa HP:0000973 rdfs:label it Cutis laxa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cutis marmorata HP:0000965 rdfs:label it Cutis marmorata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cyanosis HP:0000961 rdfs:label it Cianosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cyanotic episode HP:0200048 rdfs:label it Episodio cianotico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cystic hygroma HP:0000476 rdfs:label it Igroma cistico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cystic medial necrosis HP:0012180 rdfs:label it Necrosi cistica mediale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cystic renal dysplasia HP:0000800 rdfs:label it Displasia renale cistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cystoid macular edema HP:0011505 rdfs:label it Edema maculare cistoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cytochrome C oxidase-negative muscle fibers HP:0003688 rdfs:label it Fibre muscolari citocromo C ossidasi-negative CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Cytomegalovirus colitis HP:0033431 rdfs:label it Colite da citomegalovirus OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Cytoplasmic antineutrophil antibody positivity HP:0032230 rdfs:label it Positività degli anticorpi c-ANCA CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dairy allergy HP:0410327 rdfs:label it Allergia ai latticini CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dandy-Walker malformation HP:0001305 rdfs:label it Malformazione di Dandy-Walker CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dark urine HP:0040319 rdfs:label it Urine scure CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Darwin tubercle of helix HP:0011261 rdfs:label it Tubercolo dell'elice di Darwin CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Death in adolescence HP:0011421 rdfs:label it Morte nell'adolescenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Death in childhood HP:0003819 rdfs:label it Morte nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Death in infancy HP:0001522 rdfs:label it Morte nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased Achilles reflex HP:0009072 rdfs:label it Diminuzione del riflesso di Achille CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased CSF 5-hydroxyindolacetic acid concentration HP:0025455 rdfs:label it Diminuzione della concentrazione di acido 5-idrossiindolacetico nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased CSF glutamine concentration HP:0500198 rdfs:label it Ridotta concentrazione di glutammina nel liquor OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased CSF homovanillic acid concentration HP:0003785 rdfs:label it Diminuzione della concentrazione di acido omovanillico nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased DLCO HP:0045051 rdfs:label it Diminuzione della DLCO CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased HDL cholesterol concentration HP:0003233 rdfs:label it Diminuzione della concentrazione di colesterolo HDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of mitochondrial ATP synthase complex HP:0011925 rdfs:label it Diminuzione dell'attività del complesso mitocondriale ATP sintasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of mitochondrial complex I HP:0011923 rdfs:label it Diminuzione dell'attività del complesso mitocondriale I CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of mitochondrial complex II HP:0008314 rdfs:label it Diminuzione dell'attività del complesso mitocondriale II CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of mitochondrial complex III HP:0011924 rdfs:label it Diminuzione dell'attività del complesso III mitocondriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of mitochondrial complex IV HP:0008347 rdfs:label it Diminuzione dell'attività del complesso mitocondriale IV CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of mitochondrial respiratory chain HP:0008972 rdfs:label it Diminuzione dell'attività della catena respiratoria mitocondriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased activity of the pyruvate dehydrogenase complex HP:0002928 rdfs:label it Diminuzione dell'attività del complesso piruvato deidrogenasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased adiponectin level HP:0030685 rdfs:label it Ridotti livelli di adiponectina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased amplitude of sensory action potentials HP:0007078 rdfs:label it Diminuzione dell'ampiezza dei potenziali d'azione sensoriali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased beta-galactosidase activity HP:0008166 rdfs:label it Diminuzione dell'attività della beta-galattosidasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased body fat percentage HP:0041079 rdfs:label it Ridotta percentuale di grasso corporeo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased body weight HP:0004325 rdfs:label it Diminuzione del peso corporeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating IgA level HP:0002720 rdfs:label it Diminuzione del livello di IgA circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating IgG level HP:0004315 rdfs:label it Diminuzione del livello di IgG circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating IgG2 level HP:0008348 rdfs:label it Ridotti livelli di IgG2 circolanti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased circulating T4 concentration HP:0031507 rdfs:label it Diminuzione della concentrazione di T4 in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating antibody level HP:0004313 rdfs:label it Diminuzione del livello di anticorpi circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating ceruloplasmin concentration HP:0010837 rdfs:label it Diminuzione della concentrazione di ceruloplasmina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating copper concentration HP:0011967 rdfs:label it Diminuzione della concentrazione di rame in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating cortisol level HP:0008163 rdfs:label it Diminuzione del livello di cortisolo circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating ferritin concentration HP:0012343 rdfs:label it Diminuzione della concentrazione di ferritina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating follicle stimulating hormone concentration HP:0030341 rdfs:label it Diminuzione della concentrazione di ormone follicolo-stimolante circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating hepcidin concentration HP:0031876 rdfs:label it Ridotta concentrazione di epcidina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased circulating luteinizing hormone level HP:0030344 rdfs:label it Diminuzione del livello di ormone luteinizzante circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating thyroglobulin concentration HP:6000244 rdfs:label it Ridotta concentrazione di tireoglobulina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased circulating total IgG HP:0032132 rdfs:label it IgG totali circolanti ridotte OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased circulating total IgM HP:0002850 rdfs:label it Diminuzione delle IgM totali circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating vitamin B12 concentration HP:0100502 rdfs:label it Diminuzione della concentrazione di vitamina B12 in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased circulating vitamin D concentration HP:0100512 rdfs:label it Diminuzione della concentrazione di vitamina D in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased cirrculating antimullerian hormone circulation HP:0031103 rdfs:label it Ridotta concentrazione di ormone antimulleriano circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased compound muscle action potential amplitude HP:0033383 rdfs:label it Diminuzione dell'ampiezza del potenziale d'azione muscolare composto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased corneal thickness HP:0100689 rdfs:label it Spessore corneale ridotto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased distal sensory nerve action potential HP:0007230 rdfs:label it Ridotto potenziale d'azione del nervo sensitivo distale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased facial expression HP:0004673 rdfs:label it Riduzione dell'espressione facciale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased fetal movement HP:0001558 rdfs:label it Diminuzione del movimento fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased glomerular filtration rate HP:0012213 rdfs:label it Ridotta velocità di filtrazione glomerulare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased hip abduction HP:0003184 rdfs:label it Diminuzione dell'abduzione dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased liver function HP:0001410 rdfs:label it Diminuzione della funzionalità epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased lymphocyte proliferation in response to mitogen HP:0031381 rdfs:label it Diminuita proliferazione dei linfociti in risposta ai mitogeni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased mean corpuscular volume HP:0025066 rdfs:label it Diminuzione del volume corpuscolare medio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased mean platelet volume HP:0005537 rdfs:label it Diminuzione del volume medio delle piastrine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased motor nerve conduction velocity HP:0003431 rdfs:label it Diminuzione della velocità di conduzione dei nervi motori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased nerve conduction velocity HP:0000762 rdfs:label it Diminuzione della velocità di conduzione nervosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased number of peripheral myelinated nerve fibers HP:0003380 rdfs:label it Diminuzione del numero di fibre nervose periferiche mielinizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased palmar creases HP:0006184 rdfs:label it Diminuzione delle pieghe palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased patellar reflex HP:0011808 rdfs:label it Diminuzione del riflesso rotuleo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of CD4-positive T cells HP:0032218 rdfs:label it Diminuzione della proporzione di cellule T CD4-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of CD4-positive helper T cells HP:0005407 rdfs:label it Diminuzione della percentuale di cellule T helper CD4-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of CD4-positive, alpha-beta memory T cells HP:0410386 rdfs:label it Ridotta proporzione di cellule T alfa-beta della memoria CD4-positive CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased proportion of CD8-positive T cells HP:0005415 rdfs:label it Diminuzione della percentuale di cellule T CD8-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of central memory CD8-positive, alpha-beta T cells HP:0410389 rdfs:label it Ridotta proporzione di cellule T alfa-beta della memoria centrale CD8-positive CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased proportion of class-switched memory B cells HP:0030388 rdfs:label it Diminuzione della proporzione di cellule B di memoria commutate per classe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of gamma-delta T cells HP:0500271 rdfs:label it Diminuzione della proporzione delle cellule T gamma-delta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of memory B cells HP:0030374 rdfs:label it Ridotta proporzione di cellule B della memoria OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased proportion of memory T cells HP:0032183 rdfs:label it Diminuzione della percentuale di cellule T memoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased proportion of naive CD8 T cells HP:0410377 rdfs:label it Ridotta proporzione di cellule T CD8 naive OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased response to growth hormone stimulation test HP:0000824 rdfs:label it Diminuzione della risposta al test di stimolazione dell'ormone della crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased sensory nerve conduction velocity HP:0003448 rdfs:label it Diminuzione della velocità di conduzione del nervo sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased serum bicarbonate concentration HP:0032066 rdfs:label it Diminuzione della concentrazione sierica di bicarbonato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased serum estradiol HP:0008214 rdfs:label it Estradiolo sierico ridotto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased serum testosterone concentration HP:0040171 rdfs:label it Diminuzione della concentrazione sierica di testosterone CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased specific antibody response to polysaccharide vaccine HP:0410299 rdfs:label it Ridotta risposta anticorpale specifica al vaccino polisaccaridico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased specific antibody response to protein-conjugated polysaccharide vaccine HP:0410302 rdfs:label it Ridotta risposta anticorpale specifica ai vaccini polisaccaridici coniugati con proteine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased specific pneumococcal antibody level HP:0012476 rdfs:label it Diminuzione del livello di anticorpi specifici contro lo pneumococco CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased testicular size HP:0008734 rdfs:label it Diminuzione delle dimensioni del testicolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased thyroid-stimulating hormone level HP:0031098 rdfs:label it Diminuzione del livello di ormone stimolante la tiroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased transferrin saturation HP:0012464 rdfs:label it Ridotta saturazione della transferrina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased urinary urate HP:0011935 rdfs:label it Diminuzione dell'urato urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Decreased urinary uromodulin level HP:0034886 rdfs:label it Ridotti livelli di uromodulina nelle urine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Decreased urine output HP:0011037 rdfs:label it Diminuzione della produzione di urina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Deep anterior chamber HP:0007765 rdfs:label it Camera anteriore profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Deep dermal perivascular inflammatory infiltrate HP:0031191 rdfs:label it Infiltrato infiammatorio perivascolare dermico profondo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Deep dermatophytosis HP:0032515 rdfs:label it Dermatofitosi profonda OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Deep palmar crease HP:0006191 rdfs:label it Piega palmare profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Deep philtrum HP:0002002 rdfs:label it Filtro profondo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Deep plantar creases HP:0001869 rdfs:label it Pieghe plantari profonde OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Deep-set nails HP:0001814 rdfs:label it Unghie profonde CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Deeply set eye HP:0000490 rdfs:label it Occhio profondamente incassato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Deformed rib cage HP:0000886 rdfs:label it Gabbia toracica deformata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Degenerative vitreoretinopathy HP:0007964 rdfs:label it Vitreoretinopatia degenerativa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dehydration HP:0001944 rdfs:label it Disidratazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed CNS myelination HP:0002188 rdfs:label it Ritardo nella mielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed ability to crawl HP:0033128 rdfs:label it Ritardo nella capacità di gattonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed ability to roll over HP:0032989 rdfs:label it Ritardo nella capacità di rotolare su se stessi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed ability to sit HP:0025336 rdfs:label it Ritardo nella capacità di sedersi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed ability to stand HP:0025335 rdfs:label it Ritardata acquisizione della capacità di stare in piedi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Delayed ability to walk HP:0031936 rdfs:label it Ritardo nella capacità di camminare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed ability to walk with support HP:0033257 rdfs:label it Ritardata acquisizione della capacità di camminare con sostegno OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Delayed closure of the anterior fontanelle HP:0001476 rdfs:label it Ritardo nella chiusura della fontanella anteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed cranial suture closure HP:0000270 rdfs:label it Ritardo nella chiusura della sutura cranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed early-childhood social milestone development HP:0012434 rdfs:label it Ritardo nello sviluppo delle tappe sociali nella prima infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed epiphyseal ossification HP:0002663 rdfs:label it Ossificazione epifisaria ritardata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Delayed eruption of permanent teeth HP:0000696 rdfs:label it Ritardo nell'eruzione dei denti permanenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed eruption of primary teeth HP:0000680 rdfs:label it Ritardo nell'eruzione dei denti primari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed eruption of teeth HP:0000684 rdfs:label it Ritardo nell'eruzione dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed femoral head ossification HP:0008829 rdfs:label it Ritardo nell'ossificazione della testa del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed fine motor development HP:0010862 rdfs:label it Ritardo nello sviluppo della motricità fine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed gross motor development HP:0002194 rdfs:label it Ritardo nello sviluppo della motricità lorda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed myelination HP:0012448 rdfs:label it Ritardo nella mielinizzazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed ossification of carpal bones HP:0001216 rdfs:label it Ritardo nell'ossificazione delle ossa carpali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed pneumatization of the mastoid process HP:0005906 rdfs:label it Ritardo nella pneumatizzazione del processo mastoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed puberty HP:0000823 rdfs:label it Ritardo della pubertà CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed pubic bone ossification HP:0008788 rdfs:label it Ritardo nell'ossificazione dell'osso pubico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed skeletal maturation HP:0002750 rdfs:label it Ritardo nella maturazione dello scheletro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed somatosensory central conduction time HP:0100291 rdfs:label it Ritardo del tempo di conduzione centrale somatosensoriale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Delayed speech and language development HP:0000750 rdfs:label it Ritardo nello sviluppo del linguaggio e della parola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delayed umbilical cord separation HP:0032434 rdfs:label it Ritardo nella separazione del cordone ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Delusion HP:0000746 rdfs:label it Delusione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dementia HP:0000726 rdfs:label it Demenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Demyelinating peripheral neuropathy HP:0007108 rdfs:label it Neuropatia periferica demielinizzante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dental crowding HP:0000678 rdfs:label it Affollamento dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dental enamel pits HP:0009722 rdfs:label it Fosse dello smalto dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dental malocclusion HP:0000689 rdfs:label it Malocclusione dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dentinogenesis imperfecta HP:0000703 rdfs:label it Dentinogenesi imperfetta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dependency on parenteral nutrition HP:0033994 rdfs:label it Dipendenza da nutrizione parenterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Depressed nasal bridge HP:0005280 rdfs:label it Ponte nasale depresso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Depressed nasal ridge HP:0000457 rdfs:label it Cresta nasale depressa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Depressed nasal tip HP:0000437 rdfs:label it Punta nasale depressa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Depression HP:0000716 rdfs:label it Depressione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dermal atrophy HP:0004334 rdfs:label it Atrofia cutanea OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dermal translucency HP:0010648 rdfs:label it Traslucenza cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dermatochalasis HP:0010750 rdfs:label it Dermatocasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Descending aortic dissection HP:0012499 rdfs:label it Dissezione aortica discendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Descending thoracic aorta aneurysm HP:0004959 rdfs:label it Aneurisma dell'aorta toracica discendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peripheral pulmonary artery stenosis HP:0004969 rdfs:label it Stenosi periferica dell'arteria polmonare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ascending tubular aorta aneurysm HP:0004970 rdfs:label it Aneurisma dell'aorta tubulare ascendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary artery hypoplasia HP:0004971 rdfs:label it Ipoplasia dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Knee dislocation HP:0004976 rdfs:label it Dislocazione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral radial aplasia HP:0004977 rdfs:label it Aplasia bilaterale del radio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mesomelic leg shortening HP:0004987 rdfs:label it Accorciamento mesomelico delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent patellar dislocation HP:0005001 rdfs:label it Lussazione rotulea ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Polyarticular chondrocalcinosis HP:0005017 rdfs:label it Condrocalcinosi poliarticolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Developmental cataract HP:0000519 rdfs:label it Cataratta dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Developmental regression HP:0002376 rdfs:label it Regressione dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Developmental stagnation HP:0007281 rdfs:label it Ristagno dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Developmental stagnation at onset of seizures HP:0006834 rdfs:label it Stagnazione dello sviluppo all'inizio delle crisi epilettiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dextrocardia HP:0001651 rdfs:label it Destrocardia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dextrotransposition of the great arteries HP:0031348 rdfs:label it Destro-trasposizione delle grandi arterie OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Diabetes insipidus HP:0000873 rdfs:label it Diabete insipido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diabetes mellitus HP:0000819 rdfs:label it Diabete mellito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diaphragmatic eventration HP:0009110 rdfs:label it Estruzione diaframmatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Diaphyseal undertubulation HP:0005019 rdfs:label it Sottotubulazione diafisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal ulnar hypoplasia HP:0005033 rdfs:label it Ipoplasia dell'ulna distale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Atrial fibrillation HP:0005110 rdfs:label it Fibrillazione atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abdominal aortic aneurysm HP:0005112 rdfs:label it Aneurisma dell'aorta addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic arch aneurysm HP:0005113 rdfs:label it Aneurisma dell'arco aortico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Arterial tortuosity HP:0005116 rdfs:label it Tortuosità delle arterie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diarrhea HP:0002014 rdfs:label it Diarrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diastasis recti HP:0001540 rdfs:label it Diastasi rettilinea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diastema HP:0000699 rdfs:label it Diastema CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dicarboxylic acidemia HP:0040145 rdfs:label it Acidemia dicarbossilica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dicarboxylic aciduria HP:0003215 rdfs:label it Aciduria dicarbossilica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Difficulty adjusting to changes in luminance HP:0030512 rdfs:label it Difficoltà di adattamento ai cambiamenti di luminanza CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Difficulty climbing stairs HP:0003551 rdfs:label it Difficoltà a salire le scale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Difficulty running HP:0009046 rdfs:label it Difficoltà a correre CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Difficulty standing HP:0003698 rdfs:label it Difficoltà a stare in piedi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Difficulty walking HP:0002355 rdfs:label it Difficoltà a camminare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diffuse cerebellar atrophy HP:0100275 rdfs:label it Atrofia cerebellare diffusa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Diffuse cerebral atrophy HP:0002506 rdfs:label it Atrofia cerebrale diffusa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diffuse leukoencephalopathy HP:0006994 rdfs:label it Leucoencefalopatia diffusa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Diffuse mesangial sclerosis HP:0001967 rdfs:label it Sclerosi mesangiale diffusa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diffuse optic disc pallor HP:0012512 rdfs:label it Pallore diffuso del disco ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diffuse white matter abnormalities HP:0007204 rdfs:label it Anomalie diffuse della sostanza bianca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Digital ulcer HP:0031917 rdfs:label it Ulcera digitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilatation of renal calices HP:0100581 rdfs:label it Dilatazione dei calici renali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilatation of the cerebral artery HP:0004944 rdfs:label it Dilatazione dell'arteria cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilatation of the ductus arteriosus HP:0030745 rdfs:label it Dilatazione del dotto arterioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilatation of the renal pelvis HP:0010946 rdfs:label it Dilatazione della pelvi renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilatation of the sinus of Valsalva HP:0011645 rdfs:label it Dilatazione del seno di Valsalva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilated cardiomyopathy HP:0001644 rdfs:label it Cardiomiopatia dilatata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilated fourth ventricle HP:0002198 rdfs:label it Quarto ventricolo dilatato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilated left subclavian artery HP:0031252 rdfs:label it Dilatazione dell'arteria succlavia sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilated third ventricle HP:0007082 rdfs:label it Terzo ventricolo dilatato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dilation of Virchow-Robin spaces HP:0012520 rdfs:label it Dilatazione degli spazi di Virchow-Robin CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diminished ability to concentrate HP:0031987 rdfs:label it Diminuzione della capacità di concentrazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diminishment of relationship seeking HP:5200320 rdfs:label it Diminuzione della ricerca di relazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diminishment of social interactions HP:5200310 rdfs:label it Diminuzione delle interazioni sociali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dimple chin HP:0010751 rdfs:label it Mento a fossetta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Diplopia HP:0000651 rdfs:label it Diplopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Discoid lupus rash HP:0007417 rdfs:label it Rash discoide OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Discordant atrioventricular connection HP:0011553 rdfs:label it Connessione atrio-ventricolare discordante CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dislocated radial head HP:0003083 rdfs:label it Dislocazione della testa radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Disproportionate short-limb short stature HP:0008873 rdfs:label it Statura corta sproporzionata agli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Disproportionate short-trunk short stature HP:0003521 rdfs:label it Statura bassa sproporzionata rispetto al tronco CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Disproportionate tall stature HP:0001519 rdfs:label it Statura alta e sproporzionata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Disseminated nontuberculous mycobacterial infection HP:0032283 rdfs:label it Infezione disseminata da micobatteri non tubercolari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Distal amyotrophy HP:0003693 rdfs:label it Amiotrofia distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal arthrogryposis HP:0005684 rdfs:label it Artrogriposi distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal joint hypermobility HP:0020152 rdfs:label it Ipermobilità delle articolazioni distali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Distal lower limb amyotrophy HP:0008944 rdfs:label it Amiotrofia degli arti inferiori distali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal lower limb muscle weakness HP:0009053 rdfs:label it Debolezza muscolare degli arti inferiori distali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal muscle weakness HP:0002460 rdfs:label it Debolezza muscolare distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal peripheral sensory neuropathy HP:0007067 rdfs:label it Neuropatia sensoriale periferica distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal renal tubular acidosis HP:0008341 rdfs:label it Acidosi tubulare renale distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distal sensory impairment HP:0002936 rdfs:label it Compromissione della sensibilità distale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Distal ulnar hypoplasia HP:0005033 rdfs:label it Ipoplasia dell'ulna distale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Distal upper limb muscle weakness HP:0008959 rdfs:label it Debolezza muscolare dell'arto superiore distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Distally placed thumb HP:0009622 rdfs:label it Pollice posizionato distalmente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Disturbed sensory perception HP:0010524 rdfs:label it Disturbo della percezione sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dolichocephaly HP:0000268 rdfs:label it Dolicocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dorsocervical fat pad HP:0025383 rdfs:label it Cuscinetto adiposo dorsocervicale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Double outlet right ventricle HP:0001719 rdfs:label it Ventricolo destro a doppia uscita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Down-sloping shoulders HP:0200021 rdfs:label it Spalle inclinate verso il basso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Downslanted palpebral fissures HP:0000494 rdfs:label it Fessure palpebrali disassate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Downturned corners of mouth HP:0002714 rdfs:label it Angoli della bocca inclinati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Drooling HP:0002307 rdfs:label it Sbavatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Drowsiness HP:0002329 rdfs:label it Sonnolenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Drug allergy HP:0410323 rdfs:label it Allergia ai farmaci CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dry hair HP:0011359 rdfs:label it Capelli secchi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dry skin HP:0000958 rdfs:label it Pelle secca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duane anomaly HP:0009921 rdfs:label it Anomalia di Duane CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ductus venosus agenesis HP:0034196 rdfs:label it Agenesia del dotto venoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duodenal atresia HP:0002247 rdfs:label it Atresia duodenale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duodenal gastrinoma HP:0034953 rdfs:label it Gastrinoma duodenale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Duodenal stenosis HP:0100867 rdfs:label it Stenosi duodenale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Duodenal ulcer HP:0002588 rdfs:label it Ulcera duodenale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duplicated collecting system HP:0000081 rdfs:label it Doppio distretto renale CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Duplication of metatarsal bones HP:0001449 rdfs:label it Duplicazione delle ossa metatarsali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duplication of renal pelvis HP:0005580 rdfs:label it Duplicazione della pelvi renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duplication of the distal phalanx of the 3rd toe HP:0100398 rdfs:label it Duplicazione della falange distale del 3° dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Duplication of thumb phalanx HP:0009942 rdfs:label it Duplicazione della falange del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dural ectasia HP:0100775 rdfs:label it Ectasia durale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysarthria HP:0001260 rdfs:label it Disartria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dyscalculia HP:0002442 rdfs:label it Discalculia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dyschromatopsia HP:0007641 rdfs:label it Discromatopsia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dysdiadochokinesis HP:0002075 rdfs:label it Disdiadochinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysesthesia HP:0012534 rdfs:label it Disestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysgenesis of the hippocampus HP:0025101 rdfs:label it Disgenesia dell'ippocampo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dyskinesia HP:0100660 rdfs:label it Discinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dyslexia HP:0010522 rdfs:label it Dislessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysmetria HP:0001310 rdfs:label it Dismetria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysostosis multiplex HP:0000943 rdfs:label it Disostosi multipla OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dysphagia HP:0002015 rdfs:label it Disfagia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysphonia HP:0001618 rdfs:label it Disfonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysplasia of the femoral head HP:0010575 rdfs:label it Displasia della testa del femore OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dysplastic aortic valve HP:0005176 rdfs:label it Valvola aortica displasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysplastic corpus callosum HP:0006989 rdfs:label it Corpo calloso displasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dysplastic erythropoesis HP:0012134 rdfs:label it Eritropoiesi displastica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Dysplastic pulmonary valve HP:0005164 rdfs:label it Valvola polmonare displasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dyspnea HP:0002094 rdfs:label it Dispnea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Dystonia HP:0001332 rdfs:label it Distonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG abnormality HP:0002353 rdfs:label it Anomalia dell'EEG CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with abnormally slow frequencies HP:0011203 rdfs:label it EEG con frequenze anormalmente lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with burst suppression HP:0010851 rdfs:label it EEG con soppressione del burst CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with central focal spikes HP:0012014 rdfs:label it EEG con picchi focali centrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with central sharp slow waves HP:0011291 rdfs:label it EEG con onde lente acute centrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with central sharp waves HP:0011293 rdfs:label it EEG con onde acute centrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with centrotemporal focal spike waves HP:0012557 rdfs:label it EEG con onde di spike focali centrotemporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with changes in voltage HP:0011201 rdfs:label it EEG con variazioni di voltaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with continuous slow activity HP:0011204 rdfs:label it EEG con attività lenta continua CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with focal epileptiform discharges HP:0011185 rdfs:label it EEG con scariche epilettiformi focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with focal sharp slow waves HP:0011195 rdfs:label it EEG con onde lente acute focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with focal sharp waves HP:0011196 rdfs:label it EEG con onde focali acute CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with focal slow activity HP:0010843 rdfs:label it EEG con attività lenta focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with focal spike waves HP:0011197 rdfs:label it EEG con onde di picco focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with focal spikes HP:0011193 rdfs:label it EEG con spikes focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with frontal focal spike waves HP:0012010 rdfs:label it EEG con onde di spike focali frontali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with frontal focal spikes HP:0012015 rdfs:label it EEG con picchi focali frontali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with frontal sharp slow waves HP:0011290 rdfs:label it EEG con onde lente frontali acute CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with frontal sharp waves HP:0011294 rdfs:label it EEG con onde frontali acute CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with generalized epileptiform discharges HP:0011198 rdfs:label it EEG con scariche epilettiformi generalizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with generalized polyspikes HP:0012001 rdfs:label it EEG con polipi generalizzati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with generalized sharp slow waves HP:0011199 rdfs:label it EEG con onde lente acute generalizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with generalized slow activity HP:0010845 rdfs:label it EEG con attività lenta generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with generalized slow activity grade 1 HP:0011206 rdfs:label it EEG con attività lenta generalizzata di grado 1 CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with generalized spikes HP:0012000 rdfs:label it EEG con spike generalizzati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with intermittent slow activity HP:0011205 rdfs:label it EEG con attività lenta intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with multifocal slow activity HP:0010844 rdfs:label it EEG con attività lenta multifocale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with occipital focal spikes HP:0012016 rdfs:label it EEG con picchi focali occipitali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with occipital sharp waves HP:0011292 rdfs:label it EEG con onde acute occipitali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with occipital slowing HP:0011210 rdfs:label it EEG con rallentamento occipitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with parietal focal spike waves HP:0012012 rdfs:label it EEG con onde di punta focali parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with parietal focal spikes HP:0012017 rdfs:label it EEG con picchi focali parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with parietal sharp slow waves HP:0011288 rdfs:label it EEG con onde lente acute parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with parietal sharp waves HP:0011295 rdfs:label it EEG con onde acute parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with polyspike wave complexes HP:0002392 rdfs:label it EEG con complessi di onde polisporiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with spike-wave complexes HP:0010850 rdfs:label it EEG con complessi di onde di punta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with spike-wave complexes (2.5-3.5 Hz) HP:0010848 rdfs:label it EEG con complessi di onde spike (2,5-3,5 Hz) CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with spike-wave complexes (<2.5 Hz) HP:0010847 rdfs:label it EEG con complessi di onde di punta (<2,5 Hz) CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with temporal focal spike waves HP:0012013 rdfs:label it EEG con onde di spike focali temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with temporal focal spikes HP:0012018 rdfs:label it EEG con picchi focali temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with temporal sharp slow waves HP:0011289 rdfs:label it EEG con onde lente acute temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EEG with temporal sharp waves HP:0011296 rdfs:label it EEG con onde acute temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EMG: decremental response of compound muscle action potential to repetitive nerve stimulation HP:0003403 rdfs:label it EMG: risposta decrescente del potenziale d'azione del muscolo composto alla stimolazione nervosa ripetitiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EMG: myokymic discharges HP:0100288 rdfs:label it EMG: scariche miochimiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en EMG: myopathic abnormalities HP:0003458 rdfs:label it EMG: anomalie miopatiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Easy fatigability HP:0003388 rdfs:label it Facilità di affaticamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ebstein anomaly of the tricuspid valve HP:0010316 rdfs:label it Anomalia di Ebstein della valvola tricuspide OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ecchymosis HP:0031364 rdfs:label it Ecchimosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Echogenic fetal bowel HP:0010943 rdfs:label it Intestino fetale ecogeno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Echolalia HP:0010529 rdfs:label it Ecolalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eclabion HP:0012472 rdfs:label it Eclabion CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ectopia lentis HP:0001083 rdfs:label it Ectopia lentis CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ectopic anterior pituitary gland HP:0012731 rdfs:label it Ipofisi anteriore ectopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ectopic kidney HP:0000086 rdfs:label it Rene ectopico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ectopic ossification in muscle tissue HP:0011987 rdfs:label it Ossificazione ectopica nel tessuto muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ectopic testis HP:6000460 rdfs:label it Testicolo ectopico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ectropion HP:0000656 rdfs:label it Ectropion CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ectropion of lower eyelids HP:0007651 rdfs:label it Ectropion delle palpebre inferiori OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Eczematoid dermatitis HP:0000964 rdfs:label it Dermatite eczematoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Edema HP:0000969 rdfs:label it Edema CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Edema of the dorsum of feet HP:0012098 rdfs:label it Edema del dorso dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Edema of the dorsum of hands HP:0007514 rdfs:label it Edema del dorso delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Effort-induced polymorphic ventricular tachycardia HP:0004758 rdfs:label it Tachicardia ventricolare polimorfa indotta dallo sforzo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Egg allergy HP:0410328 rdfs:label it Allergia alle uova CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elbow contracture HP:0034391 rdfs:label it Contrattura del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elbow dislocation HP:0003042 rdfs:label it Lussazione del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elbow flexion contracture HP:0002987 rdfs:label it Contrazione della flessione del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elbow hypertrichosis HP:0004780 rdfs:label it Ipertricosi del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated 8-dehydrocholesterol HP:0003462 rdfs:label it Elevata concentrazione di 8-deidrocolesterolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated alkaline phosphatase of bone origin HP:0010639 rdfs:label it Fosfatasi alcalina elevata di origine ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated brain glycine level by MRS HP:0034893 rdfs:label it Elevato livello di glicina cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated brain lactate level by MRS HP:0012707 rdfs:label it Elevato livello di lattato cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating 7-dehydrocholesterol concentration HP:0010569 rdfs:label it Elevata concentrazione di 7-deidrocolesterolo in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating C-reactive protein concentration HP:0011227 rdfs:label it Elevata concentrazione di proteina C-reattiva circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating D-dimer concentration HP:0033106 rdfs:label it Elevata concentrazione di D-dimero circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating S-sulfocysteine concentration HP:0034745 rdfs:label it Elevata concentrazione di S-sulfocisteina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating acylcarnitine concentration HP:0045045 rdfs:label it Elevata concentrazione di acilcarnitina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating alanine aminotransferase concentration HP:0031964 rdfs:label it Elevata concentrazione circolante di alanina aminotransferasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating aldolase concentration HP:0012544 rdfs:label it Elevata concentrazione di aldolasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating alkaline phosphatase concentration HP:0003155 rdfs:label it Elevata concentrazione di fosfatasi alcalina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating aspartate aminotransferase concentration HP:0031956 rdfs:label it Elevata concentrazione di aspartato aminotransferasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating calcitonin concentration HP:0003528 rdfs:label it Elevata concentrazione di calcitonina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating creatine kinase concentration HP:0003236 rdfs:label it Elevata concentrazione di creatina chinasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating creatinine concentration HP:0003259 rdfs:label it Elevata concentrazione di creatinina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating desmosterol concentration HP:0034937 rdfs:label it Elevata concentrazione di desmosterolo circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating follicle stimulating hormone level HP:0008232 rdfs:label it Elevati livelli di ormone follicolo-stimolante circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating glutarylcarnitine concentration HP:0033442 rdfs:label it Elevata concentrazione di glutarilcarnitina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating hepatic transaminase concentration HP:0002910 rdfs:label it Elevata concentrazione di transaminasi epatiche circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating lathosterol concentration HP:0034936 rdfs:label it Elevata concentrazione di catosterolo in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating luteinizing hormone level HP:0011969 rdfs:label it Elevati livelli di ormone luteinizzante circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating myoglobin concentration HP:0033438 rdfs:label it Elevata concentrazione di mioglobina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating parathyroid hormone level HP:0003165 rdfs:label it Elevato livello di ormone paratiroideo circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating soluble CD25 concentration HP:0033833 rdfs:label it Elevata concentrazione di CD25 solubile circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label it Elevata concentrazione di tetradecenoilcarnitina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated circulating thyroid-stimulating hormone concentration HP:0002925 rdfs:label it Elevata concentrazione di ormone stimolante la tiroide in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated circulating tumor necrosis factor alpha concentration HP:6000239 rdfs:label it Elevata concentrazione di fattore di necrosi tumorale alfa circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Elevated diastolic blood pressure HP:0005117 rdfs:label it Elevata pressione sanguigna diastolica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal atrioventricular conduction HP:0005150 rdfs:label it Conduzione atrioventricolare anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventricular escape rhythm HP:0005155 rdfs:label it Ritmo di fuga ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Total anomalous pulmonary venous return HP:0005160 rdfs:label it Ritorno venoso polmonare anomalo totale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal left ventricular function HP:0005162 rdfs:label it Funzione ventricolare sinistra anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysplastic pulmonary valve HP:0005164 rdfs:label it Valvola polmonare displasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysplastic aortic valve HP:0005176 rdfs:label it Valvola aortica displasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature arteriosclerosis HP:0005177 rdfs:label it Arteriosclerosi precoce OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Tricuspid regurgitation HP:0005180 rdfs:label it Rigurgito tricuspidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bicuspid pulmonary valve HP:0005182 rdfs:label it Valvola polmonare bicuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prolonged QTc interval HP:0005184 rdfs:label it Prolungamento dell'intervallo QTc CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Restricted large joint movement HP:0005193 rdfs:label it Limitazione del movimento delle grandi articolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polyarticular arthropathy HP:0005195 rdfs:label it Artropatia poliarticolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Generalized morning stiffness HP:0005197 rdfs:label it Rigidità mattutina generalizzata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Secretory diarrhea HP:0005208 rdfs:label it Diarrea secretoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intestinal obstruction HP:0005214 rdfs:label it Occlusione intestinale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Frequent Giardia lamblia infestation HP:0005215 rdfs:label it Infestazione frequente da Giardia lamblia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired mastication HP:0005216 rdfs:label it Masticazione compromessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracic hypoplasia HP:0005257 rdfs:label it Ipoplasia toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal facility in opposing the shoulders HP:0005259 rdfs:label it Facilità anomala nell'opporre le spalle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent nasolabial fold HP:0005272 rdfs:label it Piega nasolabiale prominente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent nasal septal cartilage HP:0005273 rdfs:label it Cartilagine settale nasale assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent nasal tip HP:0005274 rdfs:label it Punta nasale prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic nasal tip HP:0005278 rdfs:label it Punta nasale ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Depressed nasal bridge HP:0005280 rdfs:label it Ponte nasale depresso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic nasal bridge HP:0005281 rdfs:label it Ponte nasale ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Internal carotid artery hypoplasia HP:0005290 rdfs:label it Ipoplasia dell'arteria carotide interna OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Venous insufficiency HP:0005293 rdfs:label it Insufficienza venosa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Arterial dissection HP:0005294 rdfs:label it Dissezione arteriosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Persistent left superior vena cava HP:0005301 rdfs:label it Vena cava superiore sinistra persistente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carotid artery tortuosity HP:0005302 rdfs:label it Tortuosità dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral venous thrombosis HP:0005305 rdfs:label it Trombosi venosa cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Capillary hemangioma HP:0005306 rdfs:label it Emangioma capillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic philtrum HP:0005326 rdfs:label it Filetto ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progeroid facial appearance HP:0005328 rdfs:label it Aspetto facciale progeroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sparse lateral eyebrow HP:0005338 rdfs:label it Sopracciglio laterale rado CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the bladder HP:0005343 rdfs:label it Ipoplasia della vescica urinaria OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Inspiratory stridor HP:0005348 rdfs:label it Stridore inspiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe T-cell immunodeficiency HP:0005352 rdfs:label it Grave immunodeficienza delle cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent herpes HP:0005353 rdfs:label it Herpes ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the thymus HP:0005359 rdfs:label it Aplasia del timo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cellular immunodeficiency HP:0005374 rdfs:label it Immunodeficienza cellulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Combined immunodeficiency HP:0005387 rdfs:label it Immunodeficienza combinata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en T lymphocytopenia HP:0005403 rdfs:label it Linfocitopenia T CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased B cell count HP:0005404 rdfs:label it Aumento della conta delle cellule B CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent bacterial skin infections HP:0005406 rdfs:label it Infezioni batteriche ricorrenti della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased proportion of CD4-positive helper T cells HP:0005407 rdfs:label it Diminuzione della percentuale di cellule T helper CD4-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased proportion of CD8-positive T cells HP:0005415 rdfs:label it Diminuzione della percentuale di cellule T CD8-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absence of CD8-positive T cells HP:0005422 rdfs:label it Assenza di cellule T CD8-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Calcification of falx cerebri HP:0005462 rdfs:label it Calcificazione della falce cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flat occiput HP:0005469 rdfs:label it Occipite piatto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Secondary microcephaly HP:0005484 rdfs:label it Microcefalia secondaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent metopic ridge HP:0005487 rdfs:label it Cresta metopica prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased red cell osmotic fragility HP:0005502 rdfs:label it Aumento della fragilità osmotica dei globuli rossi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased megakaryocyte count HP:0005513 rdfs:label it Aumento della conta dei megacariociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased mean corpuscular volume HP:0005518 rdfs:label it Aumento del volume corpuscolare medio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphoproliferative disorder HP:0005523 rdfs:label it Disordine linfoproliferativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bone marrow hypocellularity HP:0005528 rdfs:label it Ipocellularità del midollo osseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased mean platelet volume HP:0005537 rdfs:label it Diminuzione del volume medio delle piastrine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Megakaryocytopenia HP:0005548 rdfs:label it Megacariocitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Imbalanced hemoglobin synthesis HP:0005560 rdfs:label it Squilibrio nella sintesi dell'emoglobina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple renal cysts HP:0005562 rdfs:label it Cisti renali multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced renal corticomedullary differentiation HP:0005565 rdfs:label it Ridotta differenziazione cortico-midollare renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Renal magnesium wasting HP:0005567 rdfs:label it Deperimento renale di magnesio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duplication of renal pelvis HP:0005580 rdfs:label it Duplicazione della pelvi renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spotty hyperpigmentation HP:0005585 rdfs:label it Iperpigmentazione a chiazze CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized hyperkeratosis HP:0005595 rdfs:label it Ipercheratosi generalizzata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypopigmentation of hair HP:0005599 rdfs:label it Ipopigmentazione dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilobate gallbladder HP:0005608 rdfs:label it Cistifellea bilobata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Accelerated skeletal maturation HP:0005616 rdfs:label it Maturazione scheletrica accelerata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral camptodactyly HP:0005617 rdfs:label it Camptodattilia bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracolumbar kyphosis HP:0005619 rdfs:label it Cifosi toracolombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteoporosis of vertebrae HP:0005625 rdfs:label it Osteoporosi vertebrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperextensible hand joints HP:0005639 rdfs:label it Articolazioni delle mani iperestensibili CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intervertebral disk calcification HP:0005645 rdfs:label it Calcificazione del disco intervertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Os odontoideum HP:0005667 rdfs:label it Os odontoideum CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral intracerebral calcifications HP:0005671 rdfs:label it Calcificazioni intracerebrali bilaterali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal arthrogryposis HP:0005684 rdfs:label it Artrogriposi distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple enchondromatosis HP:0005701 rdfs:label it Encondromatosi multipla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 2-3 toe cutaneous syndactyly HP:0005709 rdfs:label it Sindattilia cutanea del 2-3 dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short tibia HP:0005736 rdfs:label it Tibia corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polyarticular arthritis HP:0005764 rdfs:label it Artrite poliarticolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en 2-4 toe cutaneous syndactyly HP:0005768 rdfs:label it Sindattilia cutanea 2-4 dita del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short forearm HP:0005773 rdfs:label it Avambraccio corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Contractures of the large joints HP:0005781 rdfs:label it Contratture delle grandi articolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cortical thickening of long bone diaphyses HP:0005791 rdfs:label it Ispessimento corticale delle diafisi delle ossa lunghe OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Short humerus HP:0005792 rdfs:label it Omero corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent distal phalanges HP:0005807 rdfs:label it Falangi distali assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Supernumerary ribs HP:0005815 rdfs:label it Costole soprannumerarie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short middle phalanx of finger HP:0005819 rdfs:label it Falange media corta di un dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple prenatal fractures HP:0005855 rdfs:label it Fratture multiple prenatali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital finger flexion contractures HP:0005879 rdfs:label it Contratture congenite della flessione delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed pneumatization of the mastoid process HP:0005906 rdfs:label it Ritardo nella pneumatizzazione del processo mastoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Biliary atresia HP:0005912 rdfs:label it Atresia biliare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal epiphysis morphology HP:0005930 rdfs:label it Morfologia anomala dell'epifisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory arrest HP:0005943 rdfs:label it Arresto respiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventilator dependence with inability to wean HP:0005946 rdfs:label it Dipendenza da ventilatore con incapacità di svezzamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Apneic episodes in infancy HP:0005949 rdfs:label it Episodi apneici nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary capillary hemangiomatosis HP:0005954 rdfs:label it Emangiomatosi capillare polmonare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Breathing dysregulation HP:0005957 rdfs:label it Disregolazione della respirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoargininemia HP:0005961 rdfs:label it Ipoarginemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Type II diabetes mellitus HP:0005978 rdfs:label it Diabete mellito di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital muscular torticollis HP:0005988 rdfs:label it Torcicollo muscolare congenito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Redundant neck skin HP:0005989 rdfs:label it Pelle del collo ridondante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad phalanx HP:0006009 rdfs:label it Falange ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long second metacarpal HP:0006040 rdfs:label it Secondo metacarpo lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Y-shaped metacarpals HP:0006042 rdfs:label it Metacarpi a forma di Y CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palmar hyperhidrosis HP:0006089 rdfs:label it Iperidrosi palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Finger joint hypermobility HP:0006094 rdfs:label it Ipermobilità delle articolazioni delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 3-4 finger syndactyly HP:0006097 rdfs:label it Sindattilia del 3-4 dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Finger syndactyly HP:0006101 rdfs:label it Sindattilia delle dita della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Shortening of all distal phalanges of the fingers HP:0006118 rdfs:label it Accorciamento di tutte le falangi distali delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acral ulceration HP:0006121 rdfs:label it Ulcerazione acrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased laxity of fingers HP:0006149 rdfs:label it Aumento della lassità delle dita delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ulnar deviation of thumb HP:0006156 rdfs:label it Deviazione ulnare del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mesoaxial hand polydactyly HP:0006159 rdfs:label it Polidattilia mesoassiale della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased palmar creases HP:0006184 rdfs:label it Diminuzione delle pieghe palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deep palmar crease HP:0006191 rdfs:label it Piega palmare profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slender metacarpals HP:0006236 rdfs:label it Metacarpi sottili CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent interphalangeal joints HP:0006237 rdfs:label it Articolazioni interfalangee prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic spleen HP:0006270 rdfs:label it Milza ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized hypoplasia of dental enamel HP:0006282 rdfs:label it Ipoplasia generalizzata dello smalto dentale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Enamel hypomineralization HP:0006285 rdfs:label it Ipomineralizzazione dello smalto dentale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Yellow-brown discoloration of the teeth HP:0006286 rdfs:label it Colorazione giallo-marrone dei denti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label it Elevata concentrazione di inosina trifosfato negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated erythrocyte sedimentation rate HP:0003565 rdfs:label it Velocità di eritrosedimentazione elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated fecal pH HP:0032489 rdfs:label it Elevato pH fecale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated fecal sodium HP:0032484 rdfs:label it Sodio fecale elevato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated gamma-glutamyltransferase level HP:0030948 rdfs:label it Livello elevato di gamma-glutamiltransferasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated haptoglobin level HP:0020180 rdfs:label it Elevato livello di aptoglobina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated hemoglobin A1c HP:0040217 rdfs:label it Emoglobina A1c elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated hepatic iron concentration HP:0012465 rdfs:label it Elevata concentrazione di ferro nel fegato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated lactate:pyruvate ratio HP:0032653 rdfs:label it Elevato rapporto lattato/piruvato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated left ventricular end-diastolic diameter HP:0034307 rdfs:label it Elevato diametro end-diastolico del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated plasma citrulline HP:0011966 rdfs:label it Elevazione della citrullina plasmatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells HP:0002851 rdfs:label it Elevata percentuale di cellule T regolatorie CD4-negative, CD8-negative e alfa-beta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated red cell adenosine deaminase activity HP:0030270 rdfs:label it Elevata attività dell'adenosina deaminasi dei globuli rossi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated stool chloride content HP:0034470 rdfs:label it Elevato contenuto di cloruro nelle feci OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated systolic blood pressure HP:0004421 rdfs:label it Pressione sanguigna sistolica elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated transferrin saturation HP:0012463 rdfs:label it Elevata saturazione della transferrina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated urinary 2-hydroxybutyric acid HP:0033409 rdfs:label it Elevato livello di acido 2-idrossibutirrico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated urinary 3-hydroxybutyric acid HP:0040155 rdfs:label it Elevato acido 3-idrossibutirrico urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated urinary L-glycerate level HP:6000670 rdfs:label it Elevati livelli di L-glicerato nelle urine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated urinary coproporphyrin level HP:6000536 rdfs:label it Elevati livelli di coproporfirina nelle urine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated urinary creatine level HP:0034598 rdfs:label it Elevati livelli di creatina nelle urine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elevated urine 3-hydroxyglutaric level HP:0034656 rdfs:label it Elevato livello di 3-idrossiglutarico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated urine 3-hydroxypropionic acid level HP:0034661 rdfs:label it Elevato livello di acido 3-idrossipropionico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elevated urine fumaric acid level HP:0034648 rdfs:label it Elevato livello di acido fumarico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Elfin facies HP:0004428 rdfs:label it Facies elfica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Elliptocytosis HP:0004445 rdfs:label it Ellitocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Embryonal rhabdomyosarcoma HP:0006743 rdfs:label it Rabdomiosarcoma embrionale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Emotional lability HP:0000712 rdfs:label it Labilità emotiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Emphysema HP:0002097 rdfs:label it Enfisema CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Empty sella turcica HP:6000483 rdfs:label it Sella turcica vuota OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Enamel hypomineralization HP:0006285 rdfs:label it Ipomineralizzazione dello smalto dentale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Enamel hypoplasia HP:0006297 rdfs:label it Ipoplasia dello smalto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prolonged bleeding after dental extraction HP:0006298 rdfs:label it Sanguinamento prolungato dopo un'estrazione dentaria OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Premature loss of primary teeth HP:0006323 rdfs:label it Perdita prematura dei denti primari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Supernumerary maxillary incisor HP:0006332 rdfs:label it Incisivo mascellare soprannumerario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Persistence of primary teeth HP:0006335 rdfs:label it Persistenza dei denti primari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Screwdriver-shaped incisors HP:0006346 rdfs:label it Incisivi a forma di cacciavite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agenesis of permanent teeth HP:0006349 rdfs:label it Agenesia dei denti permanenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited elbow flexion HP:0006376 rdfs:label it Flessione limitata del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Knee flexion contracture HP:0006380 rdfs:label it Contrazione della flessione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short lower limbs HP:0006385 rdfs:label it Arti inferiori corti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overtubulated long bones HP:0006391 rdfs:label it Ossa lunghe sovradimensionate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited pronation/supination of forearm HP:0006394 rdfs:label it Limitata pronazione/supinazione dell'avambraccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patellar aplasia HP:0006443 rdfs:label it Aplasia rotulea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ankle flexion contracture HP:0006466 rdfs:label it Contrazione della flessione della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal dental morphology HP:0006482 rdfs:label it Morfologia dentale anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bowing of the long bones HP:0006487 rdfs:label it Inarcamento delle ossa lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Interstitial pneumonitis HP:0006515 rdfs:label it Polmonite interstiziale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intraalveolar phospholipid accumulation HP:0006517 rdfs:label it Accumulo di fosfolipidi intraalveolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive pulmonary function impairment HP:0006520 rdfs:label it Compromissione progressiva della funzione polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphocytic interstitial pneumonia HP:0006527 rdfs:label it Polmonite interstiziale linfocitaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal pulmonary interstitial morphology HP:0006530 rdfs:label it Morfologia interstiziale polmonare anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent pneumonia HP:0006532 rdfs:label it Polmonite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent bronchopulmonary infections HP:0006538 rdfs:label it Infezioni broncopolmonari ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cardiorespiratory arrest HP:0006543 rdfs:label it Arresto cardiorespiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute hepatic failure HP:0006554 rdfs:label it Insufficienza epatica acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic calcification HP:0006559 rdfs:label it Calcificazione epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Viral hepatitis HP:0006562 rdfs:label it Epatite virale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased hepatic glycogen content HP:0006568 rdfs:label it Aumentato contenuto epatico di glicogeno OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Prolonged neonatal jaundice HP:0006579 rdfs:label it Ittero neonatale prolungato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Encephalocele HP:0002084 rdfs:label it Encefalocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Encephalopathy HP:0001298 rdfs:label it Encefalopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Encopresis HP:0040183 rdfs:label it Escopresi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Endometriosis HP:0030127 rdfs:label it Endometriosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged cisterna magna HP:0002280 rdfs:label it Cisterna magna allargata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged fetal cisterna magna HP:0011427 rdfs:label it Cisterna magna fetale ingrossata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged kidney HP:0000105 rdfs:label it Rene ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged naris HP:0009931 rdfs:label it Narici allargate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged sylvian cistern HP:0100952 rdfs:label it Cisterna silviana allargata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged thorax HP:0100625 rdfs:label it Torace ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged uterus HP:0100878 rdfs:label it Utero ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged vertebral pedicles HP:0004621 rdfs:label it Peduncoli vertebrali ingrossati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enlarged vestibular aqueduct HP:0011387 rdfs:label it Acquedotto vestibolare ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enthesitis HP:0100686 rdfs:label it Entesite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Entrapment neuropathy HP:0012181 rdfs:label it Neuropatia da intrappolamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Entropion HP:0000621 rdfs:label it Entropion CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enuresis HP:0000805 rdfs:label it Enuresi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Enuresis nocturna HP:0010677 rdfs:label it Enuresi notturna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eosinophilia HP:0001880 rdfs:label it Eosinofilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eosinophilic dermal infiltration HP:0032022 rdfs:label it Infiltrazione cutanea eosinofila CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eosinophilic infiltration of the esophagus HP:0410151 rdfs:label it Infiltrazione eosinofila dell'esofago CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eosinophilic pneumonia HP:0032071 rdfs:label it Polmonite eosinofila CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ependymoma HP:0002888 rdfs:label it Ependimoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epiblepharon HP:0011225 rdfs:label it Epiblepharon CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epicanthus HP:0000286 rdfs:label it Epicanto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epicanthus inversus HP:0000537 rdfs:label it Epicanto inverso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epidermal acanthosis HP:0025092 rdfs:label it Acantosi epidermica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Epidermoid cyst HP:0200040 rdfs:label it Cisti epidermoidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epididymitis HP:0000031 rdfs:label it Epididimite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epilepsia partialis continua HP:0012847 rdfs:label it Epilessia partialis continua CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epileptic encephalopathy HP:0200134 rdfs:label it Encefalopatia epilettica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epileptic spasm HP:0011097 rdfs:label it Spasmo epilettico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epiphyseal dysplasia HP:0002656 rdfs:label it Displasia epifisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Episodic ataxia HP:0002131 rdfs:label it Atassia episodica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Episodic vomiting HP:0002572 rdfs:label it Vomito episodico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Epistaxis HP:0000421 rdfs:label it Epistassi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Erosion of oral mucosa HP:0031446 rdfs:label it Erosione della mucosa orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eruption failure HP:0000706 rdfs:label it Insufficienza dell'interruzione dell'attività lavorativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eruptive xanthomas HP:0001013 rdfs:label it Xantomi eruttivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Erythema HP:0010783 rdfs:label it Eritema CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Erythematous papule HP:0030350 rdfs:label it Papula eritematosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Erythroderma HP:0001019 rdfs:label it Eritroderma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Erythroid hyperplasia HP:0012132 rdfs:label it Iperplasia eritroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Esodeviation HP:0020045 rdfs:label it Esodeviazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Esophageal atresia HP:0002032 rdfs:label it Atresia esofagea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Esophageal varix HP:0002040 rdfs:label it Variante esofagea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Esophagitis HP:0100633 rdfs:label it Esofagite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Esotropia HP:0000565 rdfs:label it Esotropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eversion of lateral third of lower eyelids HP:0007655 rdfs:label it Eversione del terzo laterale delle palpebre inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Everted lower lip vermilion HP:0000232 rdfs:label it Labbro inferiore estroflesso e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Everted upper lip vermilion HP:0010803 rdfs:label it Labbro superiore estroflesso vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exaggerated cupid's bow HP:0002263 rdfs:label it Arco di cupido esagerato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exaggerated startle response HP:0002267 rdfs:label it Risposta esagerata allo spavento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Excessive shyness HP:0100962 rdfs:label it Timidezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Excessive wrinkled skin HP:0007392 rdfs:label it Pelle eccessivamente rugosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Excessive wrinkling of palmar skin HP:0007605 rdfs:label it Eccessivo raggrinzimento della pelle palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exercise intolerance HP:0003546 rdfs:label it Intolleranza all'esercizio fisico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exercise-induced myalgia HP:0003738 rdfs:label it Mialgia indotta dall'esercizio fisico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exertional dyspnea HP:0002875 rdfs:label it Dispnea da sforzo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exodeviation HP:0020049 rdfs:label it Esodeviazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exotropia HP:0000577 rdfs:label it Exotropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Expressive aphasia HP:0002427 rdfs:label it Afasia espressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Expressive language delay HP:0002474 rdfs:label it Ritardo del linguaggio espressivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en External genital hypoplasia HP:0003241 rdfs:label it Ipoplasia dei genitali esterni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en External ophthalmoplegia HP:0000544 rdfs:label it Oftalmoplegia esterna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en External tibial torsion HP:0034373 rdfs:label it Torsione tibiale esterna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Extrapyramidal muscular rigidity HP:0007076 rdfs:label it Rigidità muscolare extrapiramidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Exudative retinopathy HP:0007898 rdfs:label it Retinopatia essudativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eye of the tiger anomaly of globus pallidus HP:0002454 rdfs:label it Segno dell'occhio di tigre (globus pallidus) OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Eye poking HP:0001483 rdfs:label it Fissazione dell'occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Eyelid myoclonus HP:0025097 rdfs:label it Mioclono palpebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Facial asymmetry HP:0000324 rdfs:label it Asimmetria facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Facial hypotonia HP:0000297 rdfs:label it Ipotonia facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Facial palsy HP:0010628 rdfs:label it Paralisi facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Facial paralysis HP:0007209 rdfs:label it Paralisi facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Facial telangiectasia HP:0007380 rdfs:label it Telangectasia facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Facial-lingual fasciculations HP:0007089 rdfs:label it Fascicolazioni facciali-linguali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Failure to thrive HP:0001508 rdfs:label it Mancato sviluppo vegetativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Failure to thrive in infancy HP:0001531 rdfs:label it Mancata crescita nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fair hair HP:0002286 rdfs:label it Capelli chiari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Falls HP:0002527 rdfs:label it Cadute CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fasciculations HP:0002380 rdfs:label it Fascicolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Fatal liver failure in infancy HP:0006583 rdfs:label it Insufficienza epatica fatale nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide intermamillary distance HP:0006610 rdfs:label it Ampia distanza intermamillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracic dysplasia HP:0006644 rdfs:label it Displasia toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplastic clavicle HP:0006660 rdfs:label it Clavicola aplastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Paroxysmal atrial tachycardia HP:0006671 rdfs:label it Tachicardia atriale parossistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature ventricular contraction HP:0006682 rdfs:label it Contrazione ventricolare prematura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic tortuosity HP:0006687 rdfs:label it Tortuosità aortica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrioventricular canal defect HP:0006695 rdfs:label it Difetto del canale atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature atrial contractions HP:0006699 rdfs:label it Contrazioni atriali premature CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute lymphoblastic leukemia HP:0006721 rdfs:label it Leucemia linfoblastica acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Embryonal rhabdomyosarcoma HP:0006743 rdfs:label it Rabdomiosarcoma embrionale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Clear cell renal cell carcinoma HP:0006770 rdfs:label it Carcinoma renale a cellule chiare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal angiomyolipoma HP:0006772 rdfs:label it Angiomiolipoma renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Loss of ability to walk in first decade HP:0006794 rdfs:label it Perdita della capacità di camminare nella prima decade di vita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperactive deep tendon reflexes HP:0006801 rdfs:label it Riflessi tendinei profondi iperattivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral hypomyelination HP:0006808 rdfs:label it Ipomielinizzazione cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fatigable weakness HP:0003473 rdfs:label it Debolezza affaticabile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fatigue HP:0012378 rdfs:label it Affaticamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fatty replacement of skeletal muscle HP:0012548 rdfs:label it Sostituzione grassa del muscolo scheletrico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Febrile seizure (within the age range of 3 months to 6 years) HP:0002373 rdfs:label it Crisi febbrile (nell'intervallo di età compreso tra 3 mesi e 6 anni) CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Feeding difficulties HP:0011968 rdfs:label it Difficoltà di alimentazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Feeding difficulties in infancy HP:0008872 rdfs:label it Difficoltà di alimentazione nella prima infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Female external genitalia in individual with 46,XY karyotype HP:0008730 rdfs:label it Genitali esterni femminili in individuo con cariotipo 46,XY CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Female infertility HP:0008222 rdfs:label it Infertilità femminile OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Femoral bowing HP:0002980 rdfs:label it Arcuatura femorale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Femoral hernia HP:0100541 rdfs:label it Ernia femorale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Fetal ascites HP:0001791 rdfs:label it Ascite fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fetal chylothorax HP:0025677 rdfs:label it Chilotorace fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fetal cystic hygroma HP:0010878 rdfs:label it Igroma cistico fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fetal distress HP:0025116 rdfs:label it Distress fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fetal pericardial effusion HP:0025671 rdfs:label it Versamento pericardico fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fetal pyelectasis HP:0010945 rdfs:label it Pielectasia fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fever HP:0001945 rdfs:label it Febbre CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Few cafe-au-lait spots HP:0007429 rdfs:label it Poche macchie cafe-au-lait CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fiber type grouping HP:0033685 rdfs:label it Raggruppamento delle fibre muscolari per tipo CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Fibrofolliculoma HP:0030436 rdfs:label it Fibrofollicoloma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fibular hypoplasia HP:0003038 rdfs:label it Ipoplasia fibulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fine hair HP:0002213 rdfs:label it Capelli fini CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Finger aplasia HP:0009380 rdfs:label it Aplasia delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Finger clinodactyly HP:0040019 rdfs:label it Clinodattilia delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Finger flexor weakness HP:0031177 rdfs:label it Debolezza dei flessori delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Finger hyperphalangy HP:0030367 rdfs:label it Iperfalangia delle dita della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Finger joint contracture HP:0034681 rdfs:label it Contrattura dell'articolazione delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Finger joint hypermobility HP:0006094 rdfs:label it Ipermobilità delle articolazioni delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Finger syndactyly HP:0006101 rdfs:label it Sindattilia delle dita della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en First degree atrioventricular block HP:0011705 rdfs:label it Blocco atrioventricolare di primo grado CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flaky paint dermatosis HP:0032178 rdfs:label it Dermatosi desquamativa della vernice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flared femoral metaphysis HP:0002834 rdfs:label it Metafisi femorali svasate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flared metaphysis HP:0003015 rdfs:label it Metafisi svasata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flat acetabular roof HP:0003180 rdfs:label it Tetto acetabolare piatto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flat cornea HP:0007720 rdfs:label it Cornea piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flat face HP:0012368 rdfs:label it Faccia piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flat forehead HP:0004425 rdfs:label it Fronte piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flat occiput HP:0005469 rdfs:label it Occipite piatto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flat sella turcica HP:0100857 rdfs:label it Sella turcica piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flexion contracture HP:0001371 rdfs:label it Contrazione della flessione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flexion contracture of finger HP:0012785 rdfs:label it Contrattura da flessione del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Flushing HP:0031284 rdfs:label it Arrossamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Foam cells HP:0003651 rdfs:label it Cellule schiumose OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Foam cells with lamellar inclusion bodies HP:0003609 rdfs:label it Cellule schiumose con corpi di inclusione lamellari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal EEG discharges with secondary generalization HP:0011188 rdfs:label it Scariche EEG focali con generalizzazione secondaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal T2 hyperintense basal ganglia lesion HP:0007183 rdfs:label it Lesione focale T2 iperintensa dei gangli della base CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal T2 hyperintense brainstem lesion HP:0012748 rdfs:label it Lesione focale T2 iperintensa del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal T2 hyperintense thalamic lesion HP:0012692 rdfs:label it Lesione talamica focale T2 iperintensa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal autonomic seizure HP:0011154 rdfs:label it Crisi autonomica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032773 rdfs:label it Crisi autonomica focale con palpitazioni/tachicardia/bradicardia/asistolia CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Focal aware motor seizure HP:0020217 rdfs:label it Crisi motoria focale consapevole CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal aware seizure HP:0002349 rdfs:label it Crisi epilettica focale consapevole CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal behavior arrest seizure HP:0011173 rdfs:label it Crisi di arresto del comportamento focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal clonic seizure HP:0002266 rdfs:label it Crisi focale clonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal cortical dysplasia HP:0032046 rdfs:label it Displasia corticale focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal cortical dysplasia type III HP:0032054 rdfs:label it Displasia corticale focale di tipo III CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal cortical dysplasia type Ia HP:0032048 rdfs:label it Displasia corticale focale di tipo Ia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal cortical dysplasia type Ib HP:0032049 rdfs:label it Displasia corticale focale di tipo Ib CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal dystonia HP:0004373 rdfs:label it Distonia focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal emotional seizure with laughing HP:0010821 rdfs:label it Crisi emotiva focale con risata CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Focal hemiclonic seizure HP:0006813 rdfs:label it Crisi emiclonica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the cerebellar vermis HP:0006817 rdfs:label it Aplasia/ipoplasia del verme cerebellare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Focal hemifacial clonic seizure HP:0007332 rdfs:label it Crisi clonica emifacciale focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal hyperintensity of cerebral white matter on MRI HP:0040328 rdfs:label it Iperintensità focale della sostanza bianca cerebrale alla RMN CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal hyperkinetic seizure HP:0011174 rdfs:label it Crisi ipercinetiche focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal impaired awareness autonomic seizure HP:0032755 rdfs:label it Crisi focale di alterata consapevolezza autonomica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal impaired awareness emotional seizure with fear/anxiety/panic HP:0032752 rdfs:label it Crisi emotiva focale con perdita della consapevolezza con paura/ansia/panico CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Focal impaired awareness motor seizure HP:0032712 rdfs:label it Crisi motoria con compromissione focale della consapevolezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal impaired awareness seizure HP:0002384 rdfs:label it Crisi focale di scarsa consapevolezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal impaired awareness tonic seizure HP:0032724 rdfs:label it Crisi tonica focale con compromissione della consapevolezza CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Focal motor seizure HP:0011153 rdfs:label it Crisi motoria focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal motor seizure with version HP:0011175 rdfs:label it Crisi motoria focale con versione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal myoclonic seizure HP:0011166 rdfs:label it Crisi mioclonica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal segmental glomerulosclerosis HP:0000097 rdfs:label it Glomerulosclerosi focale segmentaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal seizure with eyelid myoclonia HP:0011168 rdfs:label it Crisi focale con mioclonia palpebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal tonic seizure HP:0011167 rdfs:label it Crisi tonica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Focal-onset seizure HP:0007359 rdfs:label it Crisi epilettica ad insorgenza focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Follicular hyperkeratosis HP:0007502 rdfs:label it Ipercheratosi follicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Folliculitis HP:0025084 rdfs:label it Follicolite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Food allergy HP:0500093 rdfs:label it Allergia alimentare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Foot dorsiflexor weakness HP:0009027 rdfs:label it Debolezza dei dorsiflessori del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Foot oligodactyly HP:0001849 rdfs:label it Oligodattilia del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Forearm HP:6000299 rdfs:label it Avambraccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fractured elbow HP:0041219 rdfs:label it Frattura del gomito OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Fragile skin HP:0001030 rdfs:label it Pelle fragile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Freckling HP:0001480 rdfs:label it Lentiggini CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Freezing of gait HP:0031825 rdfs:label it Blocco dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Frequent Giardia lamblia infestation HP:0005215 rdfs:label it Infestazione frequente da Giardia lamblia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Frequent falls HP:0002359 rdfs:label it Cadute frequenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Frequent temper tantrums HP:0025161 rdfs:label it Frequenti scatti d'ira CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Froment sign HP:0032121 rdfs:label it Segno di Froment OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Frontal bossing HP:0002007 rdfs:label it Bordo frontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Frontal cortical atrophy HP:0006913 rdfs:label it Atrofia della corticale frontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Frontal polymicrogyria HP:0006821 rdfs:label it Polimicrogiria frontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe muscular hypotonia HP:0006829 rdfs:label it Grave ipotonia muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Developmental stagnation at onset of seizures HP:0006834 rdfs:label it Stagnazione dello sviluppo all'inizio delle crisi epilettiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute encephalopathy HP:0006846 rdfs:label it Encefalopatia acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar vermis atrophy HP:0006855 rdfs:label it Atrofia del verme cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Midline central nervous system lipomas HP:0006866 rdfs:label it Lipomi del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lobar holoprosencephaly HP:0006870 rdfs:label it Oloprosencefalia lobare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral hypoplasia HP:0006872 rdfs:label it Ipoplasia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pontocerebellar atrophy HP:0006879 rdfs:label it Atrofia pontocerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired distal vibration sensation HP:0006886 rdfs:label it Riduzione della sensazione di vibrazione distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intellectual disability, borderline HP:0006889 rdfs:label it Disabilità intellettiva, borderline CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick cerebral cortex HP:0006891 rdfs:label it Corteccia cerebrale spessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Frontal upsweep of hair HP:0002236 rdfs:label it Capelli frontali a spazzola CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Frontotemporal cerebral atrophy HP:0006892 rdfs:label it Atrofia cerebrale frontotemporale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower limb hypertonia HP:0006895 rdfs:label it Ipertonia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abducens palsy HP:0006897 rdfs:label it Paralisi dell'abducente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Frontal cortical atrophy HP:0006913 rdfs:label it Atrofia della corticale frontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inability to walk by childhood/adolescence HP:0006915 rdfs:label it Incapacità di camminare nell'infanzia/adolescenza CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal aggressive, impulsive or violent behavior HP:0006919 rdfs:label it Comportamento aggressivo, impulsivo o violento anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired distal tactile sensation HP:0006937 rdfs:label it Sensazione tattile distale alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abolished vibration sense HP:0006944 rdfs:label it Abolizione del senso delle vibrazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retrocerebellar cyst HP:0006951 rdfs:label it Cisti retrocerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lateral ventricle dilatation HP:0006956 rdfs:label it Dilatazione del ventricolo laterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal auditory evoked potentials HP:0006958 rdfs:label it Potenziali evocati uditivi anormali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal spinal muscular atrophy HP:0006959 rdfs:label it Atrofia muscolare spinale prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Periventricular leukomalacia HP:0006970 rdfs:label it Leucomalacia periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sleep-wake cycle disturbance HP:0006979 rdfs:label it Disturbo del ciclo sonno-veglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper limb spasticity HP:0006986 rdfs:label it Spasticità degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alobar holoprosencephaly HP:0006988 rdfs:label it Oloprosencefalia alobare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Dysplastic corpus callosum HP:0006989 rdfs:label it Corpo calloso displasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diffuse leukoencephalopathy HP:0006994 rdfs:label it Leucoencefalopatia diffusa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Basal ganglia gliosis HP:0006999 rdfs:label it Gliosi dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor axonal neuropathy HP:0007002 rdfs:label it Neuropatia assonale motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central nervous system degeneration HP:0007009 rdfs:label it Degenerazione del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor fine motor coordination HP:0007010 rdfs:label it Scarsa coordinazione motoria fine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor gross motor coordination HP:0007015 rdfs:label it Scarsa coordinazione motoria lorda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive forgetfulness HP:0007017 rdfs:label it Dimenticanza progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Attention deficit hyperactivity disorder HP:0007018 rdfs:label it Disturbo da deficit di attenzione e iperattività CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pain insensitivity HP:0007021 rdfs:label it Insensibilità al dolore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nonprogressive encephalopathy HP:0007030 rdfs:label it Encefalopatia non progressiva OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebellar dysplasia HP:0007033 rdfs:label it Displasia cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Full cheeks HP:0000293 rdfs:label it Guance piene CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fulminant hepatic failure HP:0004448 rdfs:label it Insufficienza epatica fulminante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fungal meningitis HP:0032159 rdfs:label it Meningite fungina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Furrowed tongue HP:0000221 rdfs:label it Lingua solcata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fused cervical vertebrae HP:0002949 rdfs:label it Vertebre cervicali fuse CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Fusion of gums HP:0012292 rdfs:label it Fusione delle gengive CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gait ataxia HP:0002066 rdfs:label it Atassia dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gait disturbance HP:0001288 rdfs:label it Disturbo dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gait imbalance HP:0002141 rdfs:label it Squilibrio dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Galactorrhea HP:0100829 rdfs:label it Galattorrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gastric diverticulum HP:0100808 rdfs:label it Diverticolo gastrico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Gastric varix HP:0030169 rdfs:label it Variante gastrica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gastroesophageal reflux HP:0002020 rdfs:label it Reflusso gastroesofageo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gastrointestinal atresia HP:0002589 rdfs:label it Atresia gastrointestinale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Gastrointestinal dysmotility HP:0002579 rdfs:label it Dismotilità gastrointestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gastrointestinal hemorrhage HP:0002239 rdfs:label it Emorragia gastrointestinale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Gastroparesis HP:0002578 rdfs:label it Gastroparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gastrostomy tube feeding in infancy HP:0011471 rdfs:label it Alimentazione con tubo gastrostomico nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gaze-evoked horizontal nystagmus HP:0007979 rdfs:label it Nistagmo orizzontale evocato dallo sguardo CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Gaze-evoked nystagmus HP:0000640 rdfs:label it Nistagmo evocato dallo sguardo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized abnormality of skin HP:0011354 rdfs:label it Anomalia generalizzata della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized aminoaciduria HP:0002909 rdfs:label it Amminoaciduria generalizzata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized amyotrophy HP:0003700 rdfs:label it Amiotrofia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized clonic seizure HP:0011169 rdfs:label it Crisi clonica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized convulsive status epilepticus HP:0032661 rdfs:label it Stato epilettico convulsivo generalizzato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized dystonia HP:0007325 rdfs:label it Distonia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized edema HP:0007430 rdfs:label it Edema generalizzato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized hirsutism HP:0002230 rdfs:label it Irsutismo generalizzato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized hyperkeratosis HP:0005595 rdfs:label it Ipercheratosi generalizzata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Generalized hyperreflexia HP:0007034 rdfs:label it Iperriflessia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multifocal cerebral white matter abnormalities HP:0007052 rdfs:label it Anomalie multifocali della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Poor hand-eye coordination HP:0007057 rdfs:label it Scarsa coordinazione mano-occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive language deterioration HP:0007064 rdfs:label it Deterioramento progressivo del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal peripheral sensory neuropathy HP:0007067 rdfs:label it Neuropatia sensoriale periferica distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inferior cerebellar vermis hypoplasia HP:0007068 rdfs:label it Ipoplasia del verme cerebellare inferiore OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Profound static encephalopathy HP:0007069 rdfs:label it Encefalopatia statica profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick corpus callosum HP:0007074 rdfs:label it Corpo calloso spesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Extrapyramidal muscular rigidity HP:0007076 rdfs:label it Rigidità muscolare extrapiramidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased amplitude of sensory action potentials HP:0007078 rdfs:label it Diminuzione dell'ampiezza dei potenziali d'azione sensoriali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilated third ventricle HP:0007082 rdfs:label it Terzo ventricolo dilatato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized hypertrichosis HP:0004554 rdfs:label it Ipertricosi generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized hypopigmentation HP:0007513 rdfs:label it Ipopigmentazione generalizzata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized hypoplasia of dental enamel HP:0006282 rdfs:label it Ipoplasia generalizzata dello smalto dentale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized hypotonia HP:0001290 rdfs:label it Ipotonia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized joint hypermobility HP:0002761 rdfs:label it Ipermobilità articolare generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized lipodystrophy HP:0009064 rdfs:label it Lipodistrofia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized lymphadenopathy HP:0008940 rdfs:label it Linfoadenopatia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized morning stiffness HP:0005197 rdfs:label it Rigidità mattutina generalizzata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized muscle hypertrophy HP:0003720 rdfs:label it Ipertrofia muscolare generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized muscle weakness HP:0003324 rdfs:label it Debolezza muscolare generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized myoclonic seizure HP:0002123 rdfs:label it Crisi mioclonica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized myoclonic-atonic seizure HP:0011170 rdfs:label it Crisi mioclonico-atoniche generalizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized neonatal hypotonia HP:0008935 rdfs:label it Ipotonia generalizzata neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized non-motor (absence) seizure HP:0002121 rdfs:label it Crisi generalizzata non motoria (assenza) CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized osteoporosis HP:0040160 rdfs:label it Osteoporosi generalizzata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized tonic seizure HP:0010818 rdfs:label it Crisi tonica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Generalized-onset motor seizure HP:0032677 rdfs:label it Crisi motoria a esordio generalizzato CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Generalized-onset seizure HP:0002197 rdfs:label it Crisi epilettica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Genital warts HP:0032301 rdfs:label it Verruche genitali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Genu recurvatum HP:0002816 rdfs:label it Genu recurvatum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Genu valgum HP:0002857 rdfs:label it Genu valgum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Genu varum HP:0002970 rdfs:label it Genu varum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Giant neutrophil granules HP:0032499 rdfs:label it Granuli giganti nei neutrofili OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Giant platelets HP:0001902 rdfs:label it Piastrine giganti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gingival bleeding HP:0000225 rdfs:label it Sanguinamento gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gingival fibromatosis HP:0000169 rdfs:label it Fibromatosi gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gingival fragility HP:0034518 rdfs:label it Fragilità gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gingival overgrowth HP:0000212 rdfs:label it Crescita gengivale eccessiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gingival recession HP:0030816 rdfs:label it Recessione gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gingivitis HP:0000230 rdfs:label it Gengivite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Glabellar reflex HP:0030904 rdfs:label it Riflesso glabellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Glaucoma HP:0000501 rdfs:label it Glaucoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Glioma HP:0009733 rdfs:label it Glioma OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Gliosis HP:0002171 rdfs:label it Gliosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Global brain atrophy HP:0002283 rdfs:label it Atrofia cerebrale globale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Global developmental delay HP:0001263 rdfs:label it Ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Global proximal tubulopathy HP:0012573 rdfs:label it Tubulopatia prossimale globale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Globozoospermia HP:0012205 rdfs:label it Globozoospermia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Globus pallidus calcification HP:0031627 rdfs:label it Calcificazione del globus pallidus OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Glomerular sclerosis HP:0000096 rdfs:label it Sclerosi glomerulare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Glomerulonephritis HP:0000099 rdfs:label it Glomerulonefrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Glossoptosis HP:0000162 rdfs:label it Glossoptosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Glucose intolerance HP:0001952 rdfs:label it Intolleranza al glucosio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Glutaric aciduria HP:0003150 rdfs:label it Aciduria glutarica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Glycosuria HP:0003076 rdfs:label it Glicosuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gordon reflex HP:0030181 rdfs:label it Riflesso di Gordon CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gout HP:0001997 rdfs:label it Gotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gowers sign HP:0003391 rdfs:label it Segno di Gowers CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Granuloma HP:0032252 rdfs:label it Granuloma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Grasp reflex HP:0030903 rdfs:label it Riflesso di prensione palmare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Graves disease HP:0100647 rdfs:label it Malattia di Basedow-Graves OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Gray matter heterotopia HP:0002282 rdfs:label it Eterotopia della materia grigia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ground-glass opacification HP:0025179 rdfs:label it Opacità a vetro smerigliato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Growth abnormality HP:0001507 rdfs:label it Anomalia della crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Growth delay HP:0001510 rdfs:label it Ritardo di crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Gynecomastia HP:0000771 rdfs:label it Ginecomastia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hair-pulling HP:0012167 rdfs:label it Tirata di capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hallucinations HP:0000738 rdfs:label it Allucinazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hallux valgus HP:0001822 rdfs:label it Alluce valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hallux varus HP:0008080 rdfs:label it Alluce varismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hamartoma of tongue HP:0011802 rdfs:label it Amartoma della lingua OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hamartomatous polyposis HP:0004390 rdfs:label it Poliposi amartomatosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hammertoe HP:0001765 rdfs:label it Alluce a martello CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hamstring contractures HP:0003089 rdfs:label it Contratture degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hand clenching HP:0001188 rdfs:label it Serraggio delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hand monodactyly HP:0004058 rdfs:label it Monodattilia della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hand muscle atrophy HP:0009130 rdfs:label it Atrofia dei muscoli della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hand muscle weakness HP:0030237 rdfs:label it Debolezza dei muscoli della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hand paresthesia HP:0033660 rdfs:label it Parestesia della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hand tremor HP:0002378 rdfs:label it Tremore della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Happy demeanor HP:0040082 rdfs:label it Comportamento felice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Head titubation HP:0002599 rdfs:label it Titubazione della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Head tremor HP:0002346 rdfs:label it Tremore della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Head-banging HP:0012168 rdfs:label it Sbattimento della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Headache HP:0002315 rdfs:label it Cefalea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hearing abnormality HP:0000364 rdfs:label it Anomalia dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hearing impairment HP:0000365 rdfs:label it Disturbi dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Heart block HP:0012722 rdfs:label it Blocco cardiaco CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Heart murmur HP:0030148 rdfs:label it Soffio al cuore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Heat intolerance HP:0002046 rdfs:label it Intolleranza al calore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemangioma HP:0001028 rdfs:label it Emangioma OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hematochezia HP:0002573 rdfs:label it Ematochezia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hematuria HP:0000790 rdfs:label it Ematuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemeralopia HP:0012047 rdfs:label it Emeralopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemihypsarrhythmia HP:0011215 rdfs:label it Emiaritmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemiparesis HP:0001269 rdfs:label it Emiparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemiplegia HP:0002301 rdfs:label it Emiplegia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemiplegia/hemiparesis HP:0004374 rdfs:label it Emiplegia/emiparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemivertebrae HP:0002937 rdfs:label it Emivertebre CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemolytic anemia HP:0001878 rdfs:label it Anemia emolitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemophagocytosis HP:0012156 rdfs:label it Emofagocitosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hemoptysis HP:0002105 rdfs:label it Emottisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hemosiderin-laden macrophages in bronchoalveolar fluid HP:0032979 rdfs:label it Macrofagi carichi di emosiderina nel liquido broncoalveolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hepatic bridging fibrosis HP:0012852 rdfs:label it Fibrosi epatica a ponte OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hepatic calcification HP:0006559 rdfs:label it Calcificazione epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatic cysts HP:0001407 rdfs:label it Cisti epatiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatic failure HP:0001399 rdfs:label it Insufficienza epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatic fibrosis HP:0001395 rdfs:label it Fibrosi epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatic hemophagocytosis HP:0034797 rdfs:label it Emofagocitosi epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatic sinusoidal dilatation HP:0035006 rdfs:label it Dilatazione sinusoidale epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatic steatosis HP:0001397 rdfs:label it Steatosi epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatitis HP:0012115 rdfs:label it Epatite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatocellular carcinoma HP:0001402 rdfs:label it Carcinoma epatocellulare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatomegaly HP:0002240 rdfs:label it Epatomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hepatosplenomegaly HP:0001433 rdfs:label it Epatosplenomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hernia HP:0100790 rdfs:label it Ernia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Herniation of intervertebral nuclei HP:0008441 rdfs:label it Erniazione dei nuclei intervertebrali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Heterochromia iridis HP:0001100 rdfs:label it Eterocromia iridea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Heterotropia HP:0032012 rdfs:label it Eterotropia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hiatus hernia HP:0002036 rdfs:label it Ernia dello iato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High anterior hairline HP:0009890 rdfs:label it Linea di capelli anteriore alta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High forehead HP:0000348 rdfs:label it fronte alta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High hypermetropia HP:0008499 rdfs:label it Alta ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High myopia HP:0011003 rdfs:label it Miopia elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High palate HP:0000218 rdfs:label it Palato alto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High pitched voice HP:0001620 rdfs:label it Voce acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en High, narrow palate HP:0002705 rdfs:label it Palato alto e stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Highly arched eyebrow HP:0002553 rdfs:label it Sopracciglio molto arcuato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Highly elevated creatine kinase HP:0030234 rdfs:label it Creatina chinasi molto elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hip contracture HP:0003273 rdfs:label it Contrattura dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hip dislocation HP:0002827 rdfs:label it Lussazione dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hip dysplasia HP:0001385 rdfs:label it Displasia dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hip joint hypermobility HP:0045087 rdfs:label it Ipermobilità dell'articolazione dell'anca OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hip osteoarthritis HP:0008843 rdfs:label it Artrosi dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hip pain HP:0030838 rdfs:label it Dolore all'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hip subluxation HP:0030043 rdfs:label it Sublussazione dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hippocampal atrophy HP:0410170 rdfs:label it Atrofia dell'ippocampo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hippocampal malrotation HP:0034396 rdfs:label it Malrotazione dell'ippocampo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hippocampal sclerosis HP:0033715 rdfs:label it Sclerosi ippocampale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hirsutism HP:0001007 rdfs:label it Irsutismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Histoplasmosis HP:0032256 rdfs:label it Istoplasmosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hitchhiker thumb HP:0001234 rdfs:label it Pollice da autostoppista CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hoarse voice HP:0001609 rdfs:label it Voce rauca OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hodgkin lymphoma HP:0012189 rdfs:label it Linfoma di Hodgkin CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hoffmann sign HP:0031993 rdfs:label it Segno di Hoffmann CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hooded eyelid HP:0030820 rdfs:label it Palpebra a cappuccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Horizontal eyebrow HP:0011228 rdfs:label it Sopracciglio orizzontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Horizontal nystagmus HP:0000666 rdfs:label it Nistagmo orizzontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Horseshoe kidney HP:0000085 rdfs:label it Rene a ferro di cavallo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hot cross bun sign HP:0041056 rdfs:label it Segno della croce (ponte) CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Howell-Jolly bodies HP:0032550 rdfs:label it Corpi di Howell-Jolly CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Humeral cortical thickening HP:0003868 rdfs:label it Ispessimento corticale omerale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hydranencephaly HP:0002324 rdfs:label it Idranencefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hydrocele testis HP:0000034 rdfs:label it Idrocele del testicolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hydrocephalus HP:0000238 rdfs:label it Idrocefalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hydronephrosis HP:0000126 rdfs:label it Idronefrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hydrops fetalis HP:0001789 rdfs:label it Idrope fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hydroureter HP:0000072 rdfs:label it Idrouretere CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperactive Achilles reflex HP:0033206 rdfs:label it Riflesso achilleo iperattivo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperactive deep tendon reflexes HP:0006801 rdfs:label it Riflessi tendinei profondi iperattivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Hyperactive patellar reflex HP:0007083 rdfs:label it Riflesso rotuleo iperattivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Social and occupational deterioration HP:0007086 rdfs:label it Deterioramento sociale e lavorativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Facial-lingual fasciculations HP:0007089 rdfs:label it Fascicolazioni facciali-linguali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chiari type I malformation HP:0007099 rdfs:label it Malformazione di Chiari di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Infantile encephalopathy HP:0007105 rdfs:label it Encefalopatia infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Demyelinating peripheral neuropathy HP:0007108 rdfs:label it Neuropatia periferica demielinizzante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Periventricular cysts HP:0007109 rdfs:label it Cisti periventricolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Temporal cortical atrophy HP:0007112 rdfs:label it Atrofia corticale temporale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Proximal amyotrophy HP:0007126 rdfs:label it Amiotrofia prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive peripheral neuropathy HP:0007133 rdfs:label it Neuropatia periferica progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sensorimotor neuropathy HP:0007141 rdfs:label it Neuropatia sensomotoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Slowed slurred speech HP:0007164 rdfs:label it Rallentamento dell'eloquio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Paroxysmal dyskinesia HP:0007166 rdfs:label it Discinesia parossistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor polyneuropathy HP:0007178 rdfs:label it Polineuropatia motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Interosseus muscle atrophy HP:0007181 rdfs:label it Atrofia del muscolo interosseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal T2 hyperintense basal ganglia lesion HP:0007183 rdfs:label it Lesione focale T2 iperintensa dei gangli della base CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital facial diplegia HP:0007188 rdfs:label it Diplegia facciale congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neuronal loss in the cerebral cortex HP:0007190 rdfs:label it Perdita di neuroni nella corteccia cerebrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Diffuse white matter abnormalities HP:0007204 rdfs:label it Anomalie diffuse della sostanza bianca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Facial paralysis HP:0007209 rdfs:label it Paralisi facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower limb amyotrophy HP:0007210 rdfs:label it Amiotrofia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intracerebral periventricular calcifications HP:0007229 rdfs:label it Calcificazioni periventricolari intracerebrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased distal sensory nerve action potential HP:0007230 rdfs:label it Ridotto potenziale d'azione del nervo sensitivo distale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Recurrent subcortical infarcts HP:0007236 rdfs:label it Infarti sottocorticali ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive gait ataxia HP:0007240 rdfs:label it Atassia progressiva dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal pyramidal sign HP:0007256 rdfs:label it Segno piramidale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral dysmyelination HP:0007266 rdfs:label it Dismielinizzazione cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic axonal neuropathy HP:0007267 rdfs:label it Neuropatia assonale cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atypical absence seizure HP:0007270 rdfs:label it Crisi di assenza atipica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive psychomotor deterioration HP:0007272 rdfs:label it Progressivo deterioramento psicomotorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Developmental stagnation HP:0007281 rdfs:label it Ristagno dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oromotor apraxia HP:0007301 rdfs:label it Aprassia omotoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bipolar affective disorder HP:0007302 rdfs:label it Disturbo affettivo bipolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en CNS demyelination HP:0007305 rdfs:label it Demielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short stepped shuffling gait HP:0007311 rdfs:label it Andatura a passi corti e scalcinati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized dystonia HP:0007325 rdfs:label it Distonia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mixed demyelinating and axonal polyneuropathy HP:0007327 rdfs:label it Polineuropatia mista demielinizzante e assonale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired pain sensation HP:0007328 rdfs:label it Sensazione del dolore alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal hemifacial clonic seizure HP:0007332 rdfs:label it Crisi clonica emifacciale focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the frontal lobes HP:0007333 rdfs:label it Ipoplasia dei lobi frontali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral tonic-clonic seizure with focal onset HP:0007334 rdfs:label it Crisi tonico-clonica bilaterale con esordio focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypermetric saccades HP:0007338 rdfs:label it Saccadi ipermetriche OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lower limb muscle weakness HP:0007340 rdfs:label it Debolezza muscolare degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Subcortical white matter calcifications HP:0007346 rdfs:label it Calcificazioni della sostanza bianca sottocorticale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperreflexia in upper limbs HP:0007350 rdfs:label it Iperreflessia degli arti superiori OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Upper limb postural tremor HP:0007351 rdfs:label it Tremore posturale degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar calcifications HP:0007352 rdfs:label it Calcificazioni cerebellari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Focal-onset seizure HP:0007359 rdfs:label it Crisi epilettica ad insorgenza focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the cerebellum HP:0007360 rdfs:label it Aplasia/ipoplasia del cervelletto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the brainstem HP:0007362 rdfs:label it Aplasia/ipoplasia del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the cerebrum HP:0007364 rdfs:label it Aplasia/ipoplasia del cervello CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrophy/Degeneration affecting the brainstem HP:0007366 rdfs:label it Atrofia/degenerazione del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrophy/Degeneration affecting the cerebrum HP:0007369 rdfs:label it Atrofia/degenerazione del cervello CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the corpus callosum HP:0007370 rdfs:label it Aplasia/ipoplasia del corpo calloso OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Corpus callosum atrophy HP:0007371 rdfs:label it Atrofia del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal choroid plexus morphology HP:0007376 rdfs:label it Morfologia anomala del plesso coroideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of somatosensory evoked potentials HP:0007377 rdfs:label it Anormalità dei potenziali evocati somatosensoriali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Facial telangiectasia HP:0007380 rdfs:label it Telangectasia facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia cutis congenita of scalp HP:0007385 rdfs:label it Aplasia cutis congenita del cuoio capelluto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Excessive wrinkled skin HP:0007392 rdfs:label it Pelle eccessivamente rugosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent superficial blood vessels HP:0007394 rdfs:label it Vasi sanguigni superficiali prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macular atrophy HP:0007401 rdfs:label it Atrofia maculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palmoplantar hyperhidrosis HP:0007410 rdfs:label it Iperidrosi palmoplantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nevus flammeus of the forehead HP:0007413 rdfs:label it Nevo flammeo della fronte OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Discoid lupus rash HP:0007417 rdfs:label it Rash discoide OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Alopecia totalis HP:0007418 rdfs:label it Alopecia totalis CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spontaneous hematomas HP:0007420 rdfs:label it Ematomi spontanei CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reticulated skin pigmentation HP:0007427 rdfs:label it Pigmentazione reticolare della pelle OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Few cafe-au-lait spots HP:0007429 rdfs:label it Poche macchie cafe-au-lait CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized edema HP:0007430 rdfs:label it Edema generalizzato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperactivity HP:0000752 rdfs:label it Iperattività CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperacusis HP:0010780 rdfs:label it Iperacusia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperalaninemia HP:0003348 rdfs:label it Iperalaninemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperalbuminemia HP:0012117 rdfs:label it Iperalbuminemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperammonemia HP:0001987 rdfs:label it Iperammoniemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperbilirubinemia HP:0002904 rdfs:label it Iperbilirubinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypercalcemia HP:0003072 rdfs:label it Ipercalcemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypercalciuria HP:0002150 rdfs:label it Ipercalciuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperchloremic metabolic acidosis HP:0004918 rdfs:label it Acidosi metabolica ipercloremica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypercholesterolemia HP:0003124 rdfs:label it Ipercolesterolemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperconvex nail HP:0001795 rdfs:label it Unghia iperconvessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperechogenic kidneys HP:0004719 rdfs:label it Reni iperecogeni OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperextensibility at elbow HP:0010485 rdfs:label it Iperestensibilità al gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperextensibility of the finger joints HP:0001187 rdfs:label it Iperestensibilità delle articolazioni delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperextensible hand joints HP:0005639 rdfs:label it Articolazioni delle mani iperestensibili CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperextensible skin HP:0000974 rdfs:label it Pelle iperestensibile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypergalactosemia HP:0012024 rdfs:label it Ipergalattosemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypergastrinemia HP:0500167 rdfs:label it Ipergastrinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperglutaminemia HP:0003217 rdfs:label it Iperglutaminemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperglycemia HP:0003074 rdfs:label it Iperglicemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperglycinemia HP:0002154 rdfs:label it Iperglicinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperglycinuria HP:0003108 rdfs:label it Iperglicinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypergonadotropic hypogonadism HP:0000815 rdfs:label it Ipogonadismo ipergonadotropo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypergranulosis HP:0025114 rdfs:label it Ipergranulosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperhidrosis HP:0000975 rdfs:label it Iperidrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperhomocystinemia HP:0002160 rdfs:label it Iperomocistinemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperinsulinemia HP:0000842 rdfs:label it Iperinsulinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperintensity of MRI T2 signal of the spinal cord HP:0040272 rdfs:label it Iperintensità del segnale T2 della risonanza magnetica del midollo spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperintensity of cerebral white matter on MRI HP:0030890 rdfs:label it Iperintensità della sostanza bianca cerebrale alla RMN CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperisoleucinemia HP:0010913 rdfs:label it Iperisoleucinemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperkalemia HP:0002153 rdfs:label it Ipercalemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperkeratosis HP:0000962 rdfs:label it Ipercheratosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperkinetic movements HP:0002487 rdfs:label it Movimenti ipercinetici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperleucinemia HP:0010911 rdfs:label it Iperleucinemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperlipidemia HP:0003077 rdfs:label it Iperlipidemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperlordosis HP:0003307 rdfs:label it Iperlordosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypermagnesiuria HP:0012608 rdfs:label it Ipermagnesiuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypermelanotic macule HP:0001034 rdfs:label it Macula ipermelanotica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypermethioninemia HP:0003235 rdfs:label it Ipermetioninemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypermetric saccades HP:0007338 rdfs:label it Saccadi ipermetriche OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypermetropia HP:0000540 rdfs:label it Ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypernasal speech HP:0001611 rdfs:label it Parlato ipernasale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypernatremia HP:0003228 rdfs:label it Ipernatremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypernatremic dehydration HP:0004906 rdfs:label it Disidratazione ipernatriemica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperostosis HP:0100774 rdfs:label it Iperostosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperoxaluria HP:0003159 rdfs:label it Iperossaluria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperparathyroidism HP:0000843 rdfs:label it Iperparatiroidismo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperphenylalaninemia HP:0004923 rdfs:label it Iperfenilalaninemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperphosphatemia HP:0002905 rdfs:label it Iperfosfatemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperphosphaturia HP:0003109 rdfs:label it Iperfosfaturia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperpigmentation of the skin HP:0000953 rdfs:label it Iperpigmentazione della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Hyperpigmented/hypopigmented macules HP:0007441 rdfs:label it Macule iperpigmentate/ipopigmentate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Partial albinism HP:0007443 rdfs:label it Albinismo parziale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Autoamputation of digits HP:0007460 rdfs:label it Autoamputazione delle dita OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Congenital nonbullous ichthyosiform erythroderma HP:0007479 rdfs:label it Eritroderma ittiosiforme congenito non bolloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absence of subcutaneous fat HP:0007485 rdfs:label it Assenza di grasso sottocutaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prematurely aged appearance HP:0007495 rdfs:label it Aspetto precocemente invecchiato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Follicular hyperkeratosis HP:0007502 rdfs:label it Ipercheratosi follicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized hypopigmentation HP:0007513 rdfs:label it Ipopigmentazione generalizzata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Edema of the dorsum of hands HP:0007514 rdfs:label it Edema del dorso delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Punctate palmoplantar hyperkeratosis HP:0007530 rdfs:label it Ipercheratosi palmoplantare punteggiata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Plantar hyperkeratosis HP:0007556 rdfs:label it Ipercheratosi plantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Localized epidermolytic hyperkeratosis HP:0007559 rdfs:label it Ipercheratosi epidermolitica localizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple cafe-au-lait spots HP:0007565 rdfs:label it Macchie multiple cafe-au-lait CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reticular hyperpigmentation HP:0007588 rdfs:label it Iperpigmentazione reticolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral single transverse palmar creases HP:0007598 rdfs:label it Singola piega palmare trasversale bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Excessive wrinkling of palmar skin HP:0007605 rdfs:label it Eccessivo raggrinzimento della pelle palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nevus flammeus nuchae HP:0007616 rdfs:label it Nevo flammeo nucale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mandibular condyle hypoplasia HP:0007628 rdfs:label it Ipoplasia del condilo mandibolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dyschromatopsia HP:0007641 rdfs:label it Discromatopsia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent lower eyelashes HP:0007646 rdfs:label it Assenza delle ciglia inferiori OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ectropion of lower eyelids HP:0007651 rdfs:label it Ectropion delle palpebre inferiori OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Eversion of lateral third of lower eyelids HP:0007655 rdfs:label it Eversione del terzo laterale delle palpebre inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced visual acuity HP:0007663 rdfs:label it Riduzione dell'acuità visiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Curly eyelashes HP:0007665 rdfs:label it Ciglia arricciate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive night blindness HP:0007675 rdfs:label it Cecità notturna progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the iris HP:0007676 rdfs:label it Ipoplasia dell'iride OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lacrimal duct stenosis HP:0007678 rdfs:label it Stenosi del dotto lacrimale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Unilateral ptosis HP:0007687 rdfs:label it Ptosi unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flat cornea HP:0007720 rdfs:label it Cornea piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal pigment epithelial atrophy HP:0007722 rdfs:label it Atrofia dell'epitelio pigmentato della retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Iris hypopigmentation HP:0007730 rdfs:label it Iride ipopigmentata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bone spicule pigmentation of the retina HP:0007737 rdfs:label it Pigmentazione a spicole ossee della retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the fovea HP:0007750 rdfs:label it Ipoplasia della fovea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macular dystrophy HP:0007754 rdfs:label it Distrofia maculare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Retinal telangiectasia HP:0007763 rdfs:label it Telangectasia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deep anterior chamber HP:0007765 rdfs:label it Camera anteriore profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Optic disc hypoplasia HP:0007766 rdfs:label it Ipoplasia del disco ottico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired smooth pursuit HP:0007772 rdfs:label it Inseguimento liscio alterato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sparse lower eyelashes HP:0007776 rdfs:label it Ciglia inferiori rade OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Posterior subcapsular cataract HP:0007787 rdfs:label it Cataratta sottocapsulare posteriore OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased axial length of the globe HP:0007800 rdfs:label it Aumentata lunghezza assiale del bulbo oculare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Retinal pigment epithelial mottling HP:0007814 rdfs:label it Macchie dell'epitelio pigmentato retinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Presenile cataracts HP:0007819 rdfs:label it Cataratta presenile OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Attenuation of retinal blood vessels HP:0007843 rdfs:label it Attenuazione dei vasi sanguigni retinici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital horizontal nystagmus HP:0007859 rdfs:label it Nistagmo orizzontale congenito OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Almond-shaped palpebral fissure HP:0007874 rdfs:label it Fessura palpebrale a mandorla OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Slowed horizontal saccades HP:0007885 rdfs:label it Saccadi orizzontali rallentate OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Hyperplasia of the femoral trochanters HP:0002822 rdfs:label it Iperplasia dei trocanteri femorali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperplasia of the maxilla HP:0430028 rdfs:label it Iperplasia della mascella CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperreflexia HP:0001347 rdfs:label it Iperreflessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperreflexia in upper limbs HP:0007350 rdfs:label it Iperreflessia degli arti superiori OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypersexuality HP:0030214 rdfs:label it Ipersessualità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypersomnia HP:0100786 rdfs:label it Ipersonnia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypersplenism HP:0001971 rdfs:label it Ipersplenismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertaurinemia HP:0500181 rdfs:label it Ipertaurinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertelorism HP:0000316 rdfs:label it Ipertelorismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertension HP:0000822 rdfs:label it Ipertensione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertensive crisis HP:0100735 rdfs:label it Crisi ipertensiva OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperthyroidism HP:0000836 rdfs:label it Ipertiroidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertonia HP:0001276 rdfs:label it Ipertonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertrichosis HP:0000998 rdfs:label it Ipertricosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertriglyceridemia HP:0002155 rdfs:label it Ipertrigliceridemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertrophic cardiomyopathy HP:0001639 rdfs:label it Cardiomiopatia ipertrofica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypertyrosinemia HP:0003231 rdfs:label it Iperrosinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperuricemia HP:0002149 rdfs:label it Iperuricemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyperuricosuria HP:0003149 rdfs:label it Iperuricosuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypervalinemia HP:0010910 rdfs:label it Ipervalinemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hyperventilation HP:0002883 rdfs:label it Iperventilazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoalbuminemia HP:0003073 rdfs:label it Ipoalbuminemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoargininemia HP:0005961 rdfs:label it Ipoarginemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoautofluorescent retinal lesion HP:0025159 rdfs:label it Lesione retinica ipoautofluorescente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypocalcemia HP:0002901 rdfs:label it Ipocalcemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypocalcemic seizures HP:0002199 rdfs:label it Crisi ipocalcemiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypocalcemic tetany HP:0003472 rdfs:label it Tetania ipocalcemica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypocalciuria HP:0003127 rdfs:label it Ipocalciuria OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypochloremia HP:0003113 rdfs:label it Ipocloremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypocholesterolemia HP:0003146 rdfs:label it Ipocolesterolemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypochromic microcytic anemia HP:0004840 rdfs:label it Anemia ipocromica microcitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypocitraturia HP:0012405 rdfs:label it Ipocitraturia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypocystinemia HP:0500152 rdfs:label it Ipocistinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypodontia HP:0000668 rdfs:label it Ipodonzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoesthesia HP:0033748 rdfs:label it Ipoestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypofibrinogenemia HP:0011900 rdfs:label it Ipofibrinogenemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoglutaminemia HP:0500147 rdfs:label it Ipoglutamminemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypoglycemia HP:0001943 rdfs:label it Ipoglicemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypogonadism HP:0000135 rdfs:label it Ipogonadismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypogonadotropic hypogonadism HP:0000044 rdfs:label it Ipogonadismo ipogonadotropo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypohidrosis HP:0000966 rdfs:label it Ipoidrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypohomocysteinemia HP:0020222 rdfs:label it Ipoomocisteinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoinsulinemia HP:0040216 rdfs:label it Ipoinsulinemia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypoisoleucinemia HP:0500144 rdfs:label it Ipoisoleucinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypokalemia HP:0002900 rdfs:label it Ipokaliemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypokinesia HP:0002375 rdfs:label it Ipocinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoleucinemia HP:0500143 rdfs:label it Ipoleucinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypomagnesemia HP:0002917 rdfs:label it Ipomagnesiemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypomature enamel HP:0033786 rdfs:label it Smalto ipomaturo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypomelanotic macule HP:0009719 rdfs:label it Macula ipomelanotica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypometric saccades HP:0000571 rdfs:label it Saccadi ipometriche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypometric upward saccades HP:0031833 rdfs:label it Saccadi ipometriche dirette verso l'alto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypomimic face HP:0000338 rdfs:label it Volto ipomimico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyponatremia HP:0002902 rdfs:label it Iponatremia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyponatriuria HP:0012604 rdfs:label it Iponatriuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoparathyroidism HP:0000829 rdfs:label it Ipoparatiroidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypophosphatemia HP:0002148 rdfs:label it Ipofosfatemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypopigmentation of hair HP:0005599 rdfs:label it Ipopigmentazione dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Hypopigmentation of the fundus HP:0007894 rdfs:label it Ipopigmentazione del fondo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exudative retinopathy HP:0007898 rdfs:label it Retinopatia essudativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vitreous hemorrhage HP:0007902 rdfs:label it Emorragia vitrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ocular hypertension HP:0007906 rdfs:label it Ipertensione oculare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Congenital bilateral ptosis HP:0007911 rdfs:label it Ptosi bilaterale congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal flash visual evoked potentials HP:0007928 rdfs:label it Potenziali evocati visivi da flash anomali CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Broad lateral eyebrow HP:0007933 rdfs:label it Sopracciglio ampio lateralmente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Corneal opacity HP:0007957 rdfs:label it Opacità corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Degenerative vitreoretinopathy HP:0007964 rdfs:label it Vitreoretinopatia degenerativa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Remnants of the hyaloid vascular system HP:0007968 rdfs:label it Resti del sistema vascolare ialoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal dysplasia HP:0007973 rdfs:label it Displasia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gaze-evoked horizontal nystagmus HP:0007979 rdfs:label it Nistagmo orizzontale evocato dallo sguardo CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Progressive visual field defects HP:0007987 rdfs:label it Difetti progressivi del campo visivo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Peripheral visual field loss HP:0007994 rdfs:label it Perdita del campo visivo periferico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal arteriolar constriction HP:0008043 rdfs:label it Costrizione arteriolare retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ichthyosis HP:0008064 rdfs:label it Ittiosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal blistering of the skin HP:0008066 rdfs:label it Vesciche anomale della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sparse hair HP:0008070 rdfs:label it Capelli radi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Maternal hypertension HP:0008071 rdfs:label it Ipertensione materna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent fifth metatarsal HP:0008079 rdfs:label it Quinto metatarso assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hallux varus HP:0008080 rdfs:label it Alluce varismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pes valgus HP:0008081 rdfs:label it Pes valgus CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 4th toe HP:0008093 rdfs:label it Quarto dito del piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Widely spaced toes HP:0008094 rdfs:label it Dita dei piedi ampiamente distanziate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Plantar flexion contracture HP:0008112 rdfs:label it Contrazione della flessione plantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired epinephrine-induced platelet aggregation HP:0008148 rdfs:label it Compromissione dell'aggregazione piastrinica indotta dall'epinefrina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prolonged prothrombin time HP:0008151 rdfs:label it Tempo di protrombina prolungato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mucopolysacchariduria HP:0008155 rdfs:label it Mucopolisaccariduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating cortisol level HP:0008163 rdfs:label it Diminuzione del livello di cortisolo circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased beta-galactosidase activity HP:0008166 rdfs:label it Diminuzione dell'attività della beta-galattosidasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mildly elevated creatine kinase HP:0008180 rdfs:label it Creatina chinasi lievemente elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Precocious puberty in males HP:0008185 rdfs:label it Pubertà precoce nei maschi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thyroid agenesis HP:0008191 rdfs:label it Agenesia della tiroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Primary hyperparathyroidism HP:0008200 rdfs:label it Iperparatiroidismo primario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced circulating prolactin concentration HP:0008202 rdfs:label it Ridotta concentrazione di prolattina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Primary adrenal insufficiency HP:0008207 rdfs:label it Insufficienza surrenalica primaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature ovarian insufficiency HP:0008209 rdfs:label it Insufficienza ovarica prematura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased serum estradiol HP:0008214 rdfs:label it Estradiolo sierico ridotto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Female infertility HP:0008222 rdfs:label it Infertilità femminile OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating follicle stimulating hormone level HP:0008232 rdfs:label it Elevati livelli di ormone follicolo-stimolante circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebellar cortical atrophy HP:0008278 rdfs:label it Atrofia corticale cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unconjugated hyperbilirubinemia HP:0008282 rdfs:label it Iperbilirubinemia non coniugata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased activity of mitochondrial complex II HP:0008314 rdfs:label it Diminuzione dell'attività del complesso mitocondriale II CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced von Willebrand factor activity HP:0008330 rdfs:label it Ridotta attività del fattore von Willebrand OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Distal renal tubular acidosis HP:0008341 rdfs:label it Acidosi tubulare renale distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased activity of mitochondrial complex IV HP:0008347 rdfs:label it Diminuzione dell'attività del complesso mitocondriale IV CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating IgG2 level HP:0008348 rdfs:label it Ridotti livelli di IgG2 circolanti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Neonatal hypoproteinemia HP:0008360 rdfs:label it Ipoproteinemia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the nails HP:0008386 rdfs:label it Aplasia/ipoplasia delle unghie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nail dystrophy HP:0008404 rdfs:label it Distrofia ungueale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertebral hypoplasia HP:0008417 rdfs:label it Ipoplasia vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intervertebral disk degeneration HP:0008419 rdfs:label it Degenerazione del disco intervertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anterior beaking of lumbar vertebrae HP:0008430 rdfs:label it Beccatura anteriore delle vertebre lombari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypopigmentation of the skin HP:0001010 rdfs:label it Ipopigmentazione della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypopigmented macule HP:0020073 rdfs:label it Macula ipopigmentata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypopituitarism HP:0040075 rdfs:label it Ipopituitarismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of deltoid muscle HP:0030241 rdfs:label it Ipoplasia del muscolo deltoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of right ventricle HP:0004762 rdfs:label it Ipoplasia del ventricolo destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of teeth HP:0000685 rdfs:label it Ipoplasia dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the bladder HP:0005343 rdfs:label it Ipoplasia della vescica urinaria OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypoplasia of the brainstem HP:0002365 rdfs:label it Ipoplasia del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the capital femoral epiphysis HP:0003090 rdfs:label it Ipoplasia dell'epifisi femorale capitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the corpus callosum HP:0002079 rdfs:label it Ipoplasia del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the femoral head HP:0008802 rdfs:label it Ipoplasia della testa del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the fovea HP:0007750 rdfs:label it Ipoplasia della fovea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the frontal lobes HP:0007333 rdfs:label it Ipoplasia dei lobi frontali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the iris HP:0007676 rdfs:label it Ipoplasia dell'iride OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypoplasia of the maxilla HP:0000327 rdfs:label it Ipoplasia della mascella CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the musculature HP:0009004 rdfs:label it Ipoplasia della muscolatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the nasal bone HP:0004646 rdfs:label it Ipoplasia delle ossa nasali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the odontoid process HP:0003311 rdfs:label it Ipoplasia del processo odontoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the pons HP:0012110 rdfs:label it Ipoplasia del pons CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the radius HP:0002984 rdfs:label it Ipoplasia del radio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the semicircular canal HP:0011382 rdfs:label it Ipoplasia del canale semicircolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the thymus HP:0000778 rdfs:label it Ipoplasia del timo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the ulna HP:0003022 rdfs:label it Ipoplasia dell'ulna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplasia of the zygomatic bone HP:0010669 rdfs:label it Ipoplasia dell'osso zigomatico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic anterior commissure HP:0030303 rdfs:label it Commissura anteriore ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic aortic arch HP:0012304 rdfs:label it Arco aortico ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Hypoplastic cervical vertebrae HP:0008434 rdfs:label it Vertebre cervicali ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bifid thoracic vertebrae HP:0008437 rdfs:label it Vertebre toraciche bifide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lumbar hemivertebrae HP:0008439 rdfs:label it Emivertebre lombari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Herniation of intervertebral nuclei HP:0008441 rdfs:label it Erniazione dei nuclei intervertebrali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cervical spinal canal stenosis HP:0008445 rdfs:label it Stenosi del canale spinale cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Hypoplastic coccygeal vertebrae HP:0008447 rdfs:label it Vertebre coccigee ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow vertebral interpedicular distance HP:0008450 rdfs:label it Distanza interpedicolare vertebrale ristretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lumbar kyphosis HP:0008454 rdfs:label it cifosi lombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en C2-C3 subluxation HP:0008456 rdfs:label it Sublussazione C2-C3 CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cervical instability HP:0008462 rdfs:label it Instabilità cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic sacral vertebrae HP:0008475 rdfs:label it Vertebre sacrali ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High hypermetropia HP:0008499 rdfs:label it Alta ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Moderate sensorineural hearing impairment HP:0008504 rdfs:label it Moderato deficit uditivo neurosensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral conductive hearing impairment HP:0008513 rdfs:label it Disturbo bilaterale dell'udito conduttivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Posterior helix pit HP:0008523 rdfs:label it Fossetta cutanea nella parte posteriore dell'elice CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Congenital sensorineural hearing impairment HP:0008527 rdfs:label it Deficit congenito dell'udito neurosensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low-frequency hearing loss HP:0008542 rdfs:label it Perdita dell'udito a bassa frequenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microtia HP:0008551 rdfs:label it Microtia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic fingernail HP:0001804 rdfs:label it Unghia ipoplastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Hypoplastic helices HP:0008589 rdfs:label it Eliche ipoplastiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral sensorineural hearing impairment HP:0008619 rdfs:label it Deficit uditivo neurosensoriale bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clitoral hypertrophy HP:0008665 rdfs:label it Ipertrofia clitoridea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Calcium oxalate nephrolithiasis HP:0008672 rdfs:label it Nefrolitiasi da ossalato di calcio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital megaureter HP:0008676 rdfs:label it Megauretere congenito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Congenital nephrotic syndrome HP:0008677 rdfs:label it Sindrome nefrosica congenita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral cryptorchidism HP:0008689 rdfs:label it Criptorchidismo bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Urethral diverticulum HP:0008722 rdfs:label it Diverticolo uretrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Female external genitalia in individual with 46,XY karyotype HP:0008730 rdfs:label it Genitali esterni femminili in individuo con cariotipo 46,XY CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased testicular size HP:0008734 rdfs:label it Diminuzione delle dimensioni del testicolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laryngeal cleft HP:0008751 rdfs:label it Spaccatura laringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laryngotracheomalacia HP:0008755 rdfs:label it Laringotracheomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en No social interaction HP:0008763 rdfs:label it Nessuna interazione sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Auditory hallucination HP:0008765 rdfs:label it Allucinazione uditiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Self-mutilation of tongue and lips due to involuntary movements HP:0008767 rdfs:label it Automutilazione della lingua e delle labbra dovuta a movimenti involontari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Obsessive-compulsive trait HP:0008770 rdfs:label it Tratto ossessivo-compulsivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed pubic bone ossification HP:0008788 rdfs:label it Ritardo nell'ossificazione dell'osso pubico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the femoral head HP:0008802 rdfs:label it Ipoplasia della testa del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acetabular dysplasia HP:0008807 rdfs:label it Displasia acetabolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent ossification of capital femoral epiphysis HP:0008820 rdfs:label it Assente ossificazione dell'epifisi femorale capitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic iliac body HP:0008824 rdfs:label it Ipoplasia del corpo dell'osso iliaco OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Delayed femoral head ossification HP:0008829 rdfs:label it Ritardo nell'ossificazione della testa del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Irregular acetabular roof HP:0008833 rdfs:label it Tetto acetabolare irregolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip osteoarthritis HP:0008843 rdfs:label it Artrosi dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe intrauterine growth retardation HP:0008846 rdfs:label it Grave ritardo di crescita intrauterino CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe postnatal growth retardation HP:0008850 rdfs:label it Grave ritardo di crescita postnatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Feeding difficulties in infancy HP:0008872 rdfs:label it Difficoltà di alimentazione nella prima infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Disproportionate short-limb short stature HP:0008873 rdfs:label it Statura corta sproporzionata agli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Adipose tissue loss HP:0008887 rdfs:label it Perdita di tessuto adiposo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postnatal growth retardation HP:0008897 rdfs:label it Ritardo di crescita postnatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rhizomelia HP:0008905 rdfs:label it Rizomelia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Childhood-onset truncal obesity HP:0008915 rdfs:label it Obesità troncale in età infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized neonatal hypotonia HP:0008935 rdfs:label it Ipotonia generalizzata neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Axial hypotonia HP:0008936 rdfs:label it Ipotonia assiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized lymphadenopathy HP:0008940 rdfs:label it Linfoadenopatia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute rhabdomyolysis HP:0008942 rdfs:label it Rabdomiolisi acuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal lower limb amyotrophy HP:0008944 rdfs:label it Amiotrofia degli arti inferiori distali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic hippocampus HP:0025517 rdfs:label it Ippocampo ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic ilia HP:0000946 rdfs:label it Ilia ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic iliac body HP:0008824 rdfs:label it Ipoplasia del corpo dell'osso iliaco OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypoplastic iliac wing HP:0002866 rdfs:label it Ala iliaca ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic labia majora HP:0000059 rdfs:label it Labiopalmo ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic labia minora HP:0000064 rdfs:label it Labbra minori ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic left heart HP:0004383 rdfs:label it Cuore sinistro ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic nasal bridge HP:0005281 rdfs:label it Ponte nasale ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic nasal tip HP:0005278 rdfs:label it Punta nasale ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic nipples HP:0002557 rdfs:label it Capezzoli ipoplasici OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypoplastic optic chiasm HP:0034311 rdfs:label it Chiasma ottico ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic philtrum HP:0005326 rdfs:label it Filetto ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic sacral vertebrae HP:0008475 rdfs:label it Vertebre sacrali ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic scapulae HP:0000882 rdfs:label it Scapole ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic spleen HP:0006270 rdfs:label it Milza ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoplastic toenails HP:0001800 rdfs:label it Unghie dei piedi ipoplasiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoproteinemia HP:0003075 rdfs:label it Ipoproteinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyporeflexia HP:0001265 rdfs:label it Iporeflessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyporeflexia of lower limbs HP:0002600 rdfs:label it Iporeflessia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyporeflexia of upper limbs HP:0012391 rdfs:label it Iporeflessia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyposmia HP:0004409 rdfs:label it Iposmia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypospadias HP:0000047 rdfs:label it Ipospadia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hyposthenuria HP:0003158 rdfs:label it Ipostenuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypotelorism HP:0000601 rdfs:label it Ipotelorismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypothalamic hamartoma HP:0002444 rdfs:label it Amartoma ipotalamico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypothermia HP:0002045 rdfs:label it Ipotermia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Hypothyroidism HP:0000821 rdfs:label it Ipotiroidismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypotonia HP:0001252 rdfs:label it Ipotonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypovalinemia HP:0500132 rdfs:label it Ipovalinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypoventilation HP:0002791 rdfs:label it Ipoventilazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypovolemia HP:0011106 rdfs:label it Ipovolemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Hypsarrhythmia HP:0002521 rdfs:label it Ipsaritmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ichthyosis HP:0008064 rdfs:label it Ittiosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en IgA deposition in the glomerulus HP:0000794 rdfs:label it Deposizione glomerulare di IgA OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ileal ulcer HP:0032024 rdfs:label it Ulcera ileale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ileitis HP:0032564 rdfs:label it Ileite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Iliac artery aneurysm HP:4000067 rdfs:label it Aneurisma dell'arteria iliaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Imbalanced hemoglobin synthesis HP:0005560 rdfs:label it Squilibrio nella sintesi dell'emoglobina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Immunodeficiency HP:0002721 rdfs:label it Immunodeficienza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired ADP-induced platelet aggregation HP:0004866 rdfs:label it Compromissione dell'aggregazione piastrinica indotta da ADP CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired arachidonic acid-induced platelet aggregation HP:0011870 rdfs:label it Compromissione dell'aggregazione piastrinica indotta da acido arachidonico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired distal tactile sensation HP:0006937 rdfs:label it Sensazione tattile distale alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired distal vibration sensation HP:0006886 rdfs:label it Riduzione della sensazione di vibrazione distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired epinephrine-induced platelet aggregation HP:0008148 rdfs:label it Compromissione dell'aggregazione piastrinica indotta dall'epinefrina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired executive functioning HP:0033051 rdfs:label it Compromissione del funzionamento esecutivo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impaired heel-walking ability HP:6000490 rdfs:label it Compromissione della capacità di camminare sui talloni OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impaired lymphocyte transformation with phytohemagglutinin HP:0003347 rdfs:label it Alterata trasformazione dei linfociti con fitoemoagglutinina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired mastication HP:0005216 rdfs:label it Masticazione compromessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired oxidative burst HP:0003203 rdfs:label it Disturbo del burst ossidativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired pain sensation HP:0007328 rdfs:label it Sensazione del dolore alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired proprioception HP:0010831 rdfs:label it Propriocezione alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired renal concentrating ability HP:0004727 rdfs:label it Ridotta capacità di concentrazione renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired renal uric acid clearance HP:0004732 rdfs:label it Alterata clearance renale dell'acido urico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impaired ristocetin-induced platelet aggregation HP:0011871 rdfs:label it Compromissione dell'aggregazione piastrinica indotta da ristocetina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired smooth pursuit HP:0007772 rdfs:label it Inseguimento liscio alterato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired tactile sensation HP:0010830 rdfs:label it Sensazione tattile compromessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired tandem gait HP:0031629 rdfs:label it Compromissione della marcia in tandem CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impaired toe-walking ability HP:0034052 rdfs:label it Compromissione della capacità di camminare sulle punte dei piedi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impaired urinary acidification HP:0031033 rdfs:label it Acidificazione urinaria alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired vibration sensation in the lower limbs HP:0002166 rdfs:label it Compromissione della sensibilità vibratoria degli arti inferiori OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impaired vibratory sensation HP:0002495 rdfs:label it Sensazione vibratoria alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impaired visuospatial constructive cognition HP:0010794 rdfs:label it Compromissione della cognizione costruttiva visuo-spaziale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Impairment of activities of daily living HP:0031058 rdfs:label it Compromissione delle attività della vita quotidiana OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Imperforate hymen HP:0030011 rdfs:label it Imene imperforato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Impulsivity HP:0100710 rdfs:label it Impulsività CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inability to walk HP:0002540 rdfs:label it Incapacità di camminare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inability to walk by childhood/adolescence HP:0006915 rdfs:label it Incapacità di camminare nell'infanzia/adolescenza CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Inappropriate antidiuretic hormone secretion HP:0031218 rdfs:label it Secrezione inappropriata di ormone antidiuretico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inappropriate crying HP:0030215 rdfs:label it Pianto inappropriato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inappropriate laughter HP:0000748 rdfs:label it Risata inappropriata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Incisor macrodontia HP:0011081 rdfs:label it Macrodontia degli incisivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Incomplete partition of the cochlea type II HP:0000376 rdfs:label it Partizione incompleta della coclea di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Incomplete right bundle branch block HP:6000313 rdfs:label it Blocco di branca destra incompleto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Incoordination HP:0002311 rdfs:label it Incoordinazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased B cell count HP:0005404 rdfs:label it Aumento della conta delle cellule B CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased C-peptide level HP:0030796 rdfs:label it Aumento del livello di C-peptide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased CSF glutamate concentration HP:0500200 rdfs:label it Aumento della concentrazione di glutammato nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased CSF glycine concentration HP:0500230 rdfs:label it Aumento della concentrazione di glicina nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased CSF lactate HP:0002490 rdfs:label it Aumento del lattato nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased CSF protein concentration HP:0002922 rdfs:label it Aumento della concentrazione proteica nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased LDL cholesterol concentration HP:0003141 rdfs:label it Aumento della concentrazione di colesterolo LDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased T cell count HP:0100828 rdfs:label it Aumento del numero di cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased VLDL cholesterol concentration HP:0003362 rdfs:label it Aumento della concentrazione di colesterolo VLDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased arm span HP:0012771 rdfs:label it Aumento dell'ampiezza delle braccia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased axial length of the globe HP:0007800 rdfs:label it Aumentata lunghezza assiale del bulbo oculare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased blood urea nitrogen HP:0003138 rdfs:label it Azoto ureico ematico elevato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased body weight HP:0004324 rdfs:label it Aumento del peso corporeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased bone mineral density HP:0011001 rdfs:label it Aumento della densità minerale ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating IgA level HP:0003261 rdfs:label it Aumento del livello di IgA circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating IgE level HP:0003212 rdfs:label it Aumento del livello di IgE in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating IgG level HP:0003237 rdfs:label it Aumento del livello di IgG circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating IgG2 level HP:0032299 rdfs:label it Aumentati livelli di IgG2 circolanti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased circulating IgM level HP:0003496 rdfs:label it Aumento del livello di IgM circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating NT-proBNP concentration HP:0031185 rdfs:label it Aumento della concentrazione di NT-proBNP circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating antibody level HP:0010702 rdfs:label it Aumento del livello di anticorpi circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating beta-C-terminal telopeptide concentration HP:0031425 rdfs:label it Aumento della concentrazione di telopeptide beta-C-terminale circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating brain natriuretic peptide concentration HP:0033534 rdfs:label it Aumento della concentrazione di peptide natriuretico cerebrale circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating cortisol level HP:0003118 rdfs:label it Aumentati livelli di cortisolo circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased circulating creatine kinase MM isoform HP:0032234 rdfs:label it Aumento dell'isoforma MM della creatinchinasi circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating ferritin concentration HP:0003281 rdfs:label it Aumento della concentrazione di ferritina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating free fatty acid level HP:0030781 rdfs:label it Aumento del livello di acidi grassi liberi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating interferon-gamma concentration HP:0030356 rdfs:label it Aumentata concentrazione di interferone gamma circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased circulating interleukin 10 concentration HP:0033199 rdfs:label it Aumento della concentrazione di interleuchina 10 circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating interleukin 18 concentration HP:0034447 rdfs:label it Aumentata concentrazione di interleuchina 18 circolante OFFICIAL 0000-0003-4174-0527 DOMAIN_EXPERT 2024-11-26 +en Increased circulating interleukin 1beta concentration HP:6000374 rdfs:label it Aumentata concentrazione di interleuchina 1beta circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased circulating interleukin 6 concentration HP:0030783 rdfs:label it Aumento della concentrazione di interleuchina 6 circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating iron concentration HP:0003452 rdfs:label it Aumentata concentrazione di ferro circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased circulating lactate concentration HP:0002151 rdfs:label it Aumento della concentrazione di lattato in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating lactate dehydrogenase concentration HP:0025435 rdfs:label it Aumento della concentrazione circolante di lattato deidrogenasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating osteocalcin level HP:0031428 rdfs:label it Aumento del livello di osteocalcina circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating prolactin concentration HP:0000870 rdfs:label it Aumentata concentrazione di prolattina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased circulating renin level HP:0000848 rdfs:label it Aumento del livello di renina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased circulating troponin T concentration HP:0410174 rdfs:label it Aumento della concentrazione di troponina T in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased corneal thickness HP:0011487 rdfs:label it Aumento dello spessore corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased endomysial connective tissue HP:0100297 rdfs:label it Aumento del tessuto connettivo endomisiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased erythrocyte protoporphyrin concentration HP:0012187 rdfs:label it Aumento della concentrazione di protoporfirina negli eritrociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased facial adipose tissue HP:0000287 rdfs:label it Aumento del tessuto adiposo facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased fecal calprotectin level HP:0034056 rdfs:label it Aumentati livelli fecali di calprotectina OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased femoral anteversion HP:0012427 rdfs:label it Aumento dell'antiversione del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased hepatic echogenicity HP:0031141 rdfs:label it Aumento dell'ecogenicità epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased hepatic glycogen content HP:0006568 rdfs:label it Aumentato contenuto epatico di glicogeno OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased iduronate sulfatase level HP:0003538 rdfs:label it Aumentati livelli di iduronato solfatasi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased intervertebral space HP:0030320 rdfs:label it Spazio intervertebrale aumentato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased intracranial pressure HP:0002516 rdfs:label it Aumento della pressione intracranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased intramyocellular lipid droplets HP:0012240 rdfs:label it Aumento delle goccioline lipidiche intramiocellulari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased laxity of fingers HP:0006149 rdfs:label it Aumento della lassità delle dita delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased level of hippuric acid in urine HP:0410066 rdfs:label it Aumento del livello di acido ippurico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased mean corpuscular volume HP:0005518 rdfs:label it Aumento del volume corpuscolare medio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased mean platelet volume HP:0011877 rdfs:label it Aumento del volume medio delle piastrine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased megakaryocyte count HP:0005513 rdfs:label it Aumento della conta dei megacariociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased nuchal translucency HP:0010880 rdfs:label it Aumento della translucenza nucale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased overbite HP:0011094 rdfs:label it Aumento dell'overbite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased proportion of CD8-positive, alpha-beta TEMRA T cells HP:0500265 rdfs:label it Aumentata proporzione di cellule T alfa-beta TEMRA CD8-positive CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased proportion of effector memory CD8-positive, alpha-beta T cells HP:0410395 rdfs:label it Aumentata proporzione di cellule T alfa-beta della memoria effettrice CD8-positive CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased proportion of plasmablasts HP:0032128 rdfs:label it Aumentata proporzione di plasmablasti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased proportion of transitional B cells HP:0030381 rdfs:label it Aumentata proporzione di cellule B transizionali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased red cell osmotic fragility HP:0005502 rdfs:label it Aumento della fragilità osmotica dei globuli rossi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased serum bile acid concentration HP:0012202 rdfs:label it Aumento della concentrazione sierica di acidi biliari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased serum pyruvate HP:0003542 rdfs:label it Aumento del piruvato sierico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased theta frequency activity in EEG HP:0031535 rdfs:label it Aumento dell'attività a frequenza theta nell'EEG CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased total bilirubin HP:0003573 rdfs:label it Aumento della bilirubina totale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased urinary hypoxanthine level HP:0011814 rdfs:label it Aumento del livello urinario di ipoxantina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased urinary taurine HP:0003166 rdfs:label it Aumento della taurina urinaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased urine urobilinogen HP:0031890 rdfs:label it Aumentati livelli di urobilinogeno nelle urine OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Increased variability in muscle fiber diameter HP:0003557 rdfs:label it Aumento della variabilità del diametro delle fibre muscolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Increased vertebral height HP:0004570 rdfs:label it Aumento dell'altezza vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Infantile axial hypotonia HP:0009062 rdfs:label it Ipotonia assiale infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Infantile encephalopathy HP:0007105 rdfs:label it Encefalopatia infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Infantile muscular hypotonia HP:0008947 rdfs:label it Ipotonia muscolare infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal upper limb amyotrophy HP:0008948 rdfs:label it Amiotrofia dell'arto superiore prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Infantile onset HP:0003593 rdfs:label it Insorgenza infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Infantile spasms HP:0012469 rdfs:label it Spasmi infantili CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Infectious encephalitis HP:0002383 rdfs:label it Encefalite infettiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inferior cerebellar vermis hypoplasia HP:0007068 rdfs:label it Ipoplasia del verme cerebellare inferiore OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Inflammation of the large intestine HP:0002037 rdfs:label it Infiammazione dell'intestino crasso OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Inflexible adherence to routines HP:0000732 rdfs:label it Aderenza inflessibile alle routine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Infra-orbital crease HP:0100876 rdfs:label it Piega infraorbitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inguinal freckling HP:0030052 rdfs:label it Lentiggine inguinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inguinal hernia HP:0000023 rdfs:label it Ernia inguinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Insistence on sameness HP:5200130 rdfs:label it Insistenza nell'uniformità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Insomnia HP:0100785 rdfs:label it Insonnia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inspiratory crackles HP:0031996 rdfs:label it Crepitii inspiratori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inspiratory stridor HP:0005348 rdfs:label it Stridore inspiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Insulin resistance HP:0000855 rdfs:label it Insulino-resistenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Insulin-resistant diabetes mellitus HP:0000831 rdfs:label it Diabete mellito resistente all'insulina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intellectual disability HP:0001249 rdfs:label it Disabilità intellettuale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intellectual disability, borderline HP:0006889 rdfs:label it Disabilità intellettiva, borderline CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intellectual disability, mild HP:0001256 rdfs:label it Disabilità intellettiva lieve CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intellectual disability, moderate HP:0002342 rdfs:label it Disabilità intellettiva moderata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intellectual disability, profound HP:0002187 rdfs:label it Disabilità intellettiva profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intellectual disability, severe HP:0010864 rdfs:label it Disabilità intellettiva grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intention tremor HP:0002080 rdfs:label it Tremore intenzionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Interictal EEG abnormality HP:0025373 rdfs:label it Anomalia EEG interictale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Interictal epileptiform activity HP:0011182 rdfs:label it Attività epilettiforme interictale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intermittent claudication HP:0004417 rdfs:label it Claudicazione intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intermittent diarrhea HP:0002254 rdfs:label it Diarrea intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intermittent hyperventilation HP:0004879 rdfs:label it Iperventilazione intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Internal carotid artery hypoplasia HP:0005290 rdfs:label it Ipoplasia dell'arteria carotide interna OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Internal notch of the femoral head HP:0031027 rdfs:label it Intaglio interno della testa del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Internally nucleated skeletal muscle fibers HP:0031237 rdfs:label it Fibre muscolari scheletriche nucleate internamente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Interosseus muscle atrophy HP:0007181 rdfs:label it Atrofia del muscolo interosseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Interrupted aortic arch HP:0011611 rdfs:label it Arco aortico interrotto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Interrupted aortic arch type B HP:0011613 rdfs:label it Arco aortico interrotto di tipo B CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Interstitial emphysema HP:0032965 rdfs:label it Enfisema interstiziale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Interstitial pneumonitis HP:0006515 rdfs:label it Polmonite interstiziale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intervertebral disk calcification HP:0005645 rdfs:label it Calcificazione del disco intervertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intervertebral disk degeneration HP:0008419 rdfs:label it Degenerazione del disco intervertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intestinal lymphangiectasia HP:0002593 rdfs:label it Linfangectasia intestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intestinal malrotation HP:0002566 rdfs:label it Malrotazione intestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intestinal obstruction HP:0005214 rdfs:label it Occlusione intestinale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Intraalveolar phospholipid accumulation HP:0006517 rdfs:label it Accumulo di fosfolipidi intraalveolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intracerebral periventricular calcifications HP:0007229 rdfs:label it Calcificazioni periventricolari intracerebrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intracranial cystic lesion HP:0010576 rdfs:label it Lesione cistica intracranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intracranial hemorrhage HP:0002170 rdfs:label it Emorragia intracranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intrahepatic cholestasis HP:0001406 rdfs:label it Colestasi intraepatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intrauterine growth retardation HP:0001511 rdfs:label it Ritardo di crescita intrauterino CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Intraventricular hemorrhage HP:0030746 rdfs:label it Emorragia intraventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Intrinsic hand muscle atrophy HP:0008954 rdfs:label it Atrofia dei muscoli intrinseci della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal lower limb amyotrophy HP:0008956 rdfs:label it Amiotrofia prossimale dell'arto inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal upper limb muscle weakness HP:0008959 rdfs:label it Debolezza muscolare dell'arto superiore distale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle hypertrophy of the lower extremities HP:0008968 rdfs:label it Ipertrofia muscolare degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leg muscle stiffness HP:0008969 rdfs:label it Rigidità muscolare delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased activity of mitochondrial respiratory chain HP:0008972 rdfs:label it Diminuzione dell'attività della catena respiratoria mitocondriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Calf muscle hypertrophy HP:0008981 rdfs:label it Ipertrofia del muscolo del polpaccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal muscle weakness in lower limbs HP:0008994 rdfs:label it Debolezza muscolare prossimale degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal muscle weakness in upper limbs HP:0008997 rdfs:label it Debolezza muscolare prossimale degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the musculature HP:0009004 rdfs:label it Ipoplasia della muscolatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weakness of the intrinsic hand muscles HP:0009005 rdfs:label it Debolezza dei muscoli intrinseci della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Foot dorsiflexor weakness HP:0009027 rdfs:label it Debolezza dei dorsiflessori del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Difficulty running HP:0009046 rdfs:label it Difficoltà a correre CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peroneal muscle atrophy HP:0009049 rdfs:label it Atrofia muscolare peroneale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Distal lower limb muscle weakness HP:0009053 rdfs:label it Debolezza muscolare degli arti inferiori distali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Infantile axial hypotonia HP:0009062 rdfs:label it Ipotonia assiale infantile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized lipodystrophy HP:0009064 rdfs:label it Lipodistrofia generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased Achilles reflex HP:0009072 rdfs:label it Diminuzione del riflesso di Achille CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Progressive proximal muscle weakness HP:0009073 rdfs:label it Debolezza muscolare prossimale progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weakness of long finger extensor muscles HP:0009077 rdfs:label it Debolezza dei muscoli estensori lunghi delle dita della mano CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Alveolar ridge overgrowth HP:0009085 rdfs:label it Crescita eccessiva della cresta alveolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Speech articulation difficulties HP:0009088 rdfs:label it Difficoltà di articolazione del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic oral candidiasis HP:0009098 rdfs:label it Candidosi orale cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Median cleft palate HP:0009099 rdfs:label it Palatoschisi mediana CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diaphragmatic eventration HP:0009110 rdfs:label it Estruzione diaframmatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lipodystrophy HP:0009125 rdfs:label it Lipodistrofia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper limb amyotrophy HP:0009129 rdfs:label it Amiotrofia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hand muscle atrophy HP:0009130 rdfs:label it Atrofia dei muscoli della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Contracture of the proximal interphalangeal joint of the 5th finger HP:0009185 rdfs:label it Contrattura dell'articolazione interfalangea prossimale del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 5th finger HP:0009237 rdfs:label it 5° dito corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Contracture of the proximal interphalangeal joint of the 4th finger HP:0009276 rdfs:label it Contrattura dell'articolazione interfalangea prossimale del 4° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Finger aplasia HP:0009380 rdfs:label it Aplasia delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short finger HP:0009381 rdfs:label it Dito corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the 3rd finger HP:0009460 rdfs:label it Aplasia del 3° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Inverted nipples HP:0003186 rdfs:label it Capezzoli invertiti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Involuntary movements HP:0004305 rdfs:label it Movimenti involontari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Iris coloboma HP:0000612 rdfs:label it Coloboma dell'iride CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Iris hypopigmentation HP:0007730 rdfs:label it Iride ipopigmentata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Iris transillumination defect HP:0012805 rdfs:label it Difetto di transilluminazione dell'iride CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Iron accumulation in brain HP:0012675 rdfs:label it Accumulo di ferro nel cervello OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Irregular acetabular roof HP:0008833 rdfs:label it Tetto acetabolare irregolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Irregular epiphyses HP:0010582 rdfs:label it Epifisi irregolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Irregular iliac crest HP:0003796 rdfs:label it Cresta iliaca irregolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Irregular vertebral endplates HP:0003301 rdfs:label it Piastre vertebrali irregolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Irregularly shaped sperm tail HP:0033393 rdfs:label it Irregolarità nella forma della coda degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Irritability HP:0000737 rdfs:label it Irritabilità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ischemic stroke HP:0002140 rdfs:label it Ictus ischemico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en J-shaped sella turcica HP:0002680 rdfs:label it Sella turcica a forma di J CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Jaundice HP:0000952 rdfs:label it Itterizia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Jaw hyperreflexia HP:0033683 rdfs:label it Iperreflessia mandibolare CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Joint contracture HP:0034392 rdfs:label it Contrattura articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Joint contracture of the hand HP:0009473 rdfs:label it Contrattura articolare della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Radial deviation of the hand HP:0009486 rdfs:label it Deviazione radiale della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ulnar deviation of the hand HP:0009487 rdfs:label it Deviazione ulnare della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the 2nd finger HP:0009535 rdfs:label it Aplasia del 2° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 2nd finger HP:0009536 rdfs:label it Secondo dito della mano corto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Preauricular hair displacement HP:0009554 rdfs:label it Proiezione del cuoio capelluto verso il lato della guancia CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent tibia HP:0009556 rdfs:label it Assenza della tibia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Short middle phalanx of the 2nd finger HP:0009577 rdfs:label it Falange media corta del 2° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Astrocytoma HP:0009592 rdfs:label it Astrocitoma OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Retinal hamartoma HP:0009594 rdfs:label it Amartoma retinico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aplasia/Hypoplasia of the thumb HP:0009601 rdfs:label it Aplasia/ipoplasia del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distally placed thumb HP:0009622 rdfs:label it Pollice posizionato distalmente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proximal placement of thumb HP:0009623 rdfs:label it Posizione prossimale del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short proximal phalanx of thumb HP:0009638 rdfs:label it Falange prossimale corta del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Symphalangism of the thumb HP:0009656 rdfs:label it Sinfalangismo del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carpal synostosis HP:0009702 rdfs:label it Sinostosi carpale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Subependymal nodules HP:0009716 rdfs:label it Noduli subependimali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cortical tubers HP:0009717 rdfs:label it Tuberi corticali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypomelanotic macule HP:0009719 rdfs:label it Macula ipomelanotica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shagreen patch HP:0009721 rdfs:label it Cerotto di Shagreen CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dental enamel pits HP:0009722 rdfs:label it Fosse dello smalto dentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cardiac rhabdomyoma HP:0009729 rdfs:label it Rabdomioma cardiaco OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Rhabdomyoma HP:0009730 rdfs:label it Rabdomioma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Plexiform neurofibroma HP:0009732 rdfs:label it Neurofibroma plessiforme CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Glioma HP:0009733 rdfs:label it Glioma OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Optic nerve glioma HP:0009734 rdfs:label it Glioma del nervo ottico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Spinal neurofibroma HP:0009735 rdfs:label it Neurofibroma spinale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lisch nodules HP:0009737 rdfs:label it Noduli di Lisch CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick nasal septum HP:0009746 rdfs:label it Setto nasale spesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lumbosacral hirsutism HP:0009747 rdfs:label it Irsutismo lombosacrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Joint dislocation HP:0001373 rdfs:label it Dislocazione articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Joint hypermobility HP:0001382 rdfs:label it Ipermobilità articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Joint stiffness HP:0001387 rdfs:label it Rigidità articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Joint swelling HP:0001386 rdfs:label it Gonfiore articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Juvenile myelomonocytic leukemia HP:0012209 rdfs:label it Leucemia mielomonocitica giovanile OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Keloids HP:0010562 rdfs:label it Cheloidi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Keratinocyte vacuolization HP:0034703 rdfs:label it Vacuolizzazione dei cheratinociti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Keratitis HP:0000491 rdfs:label it Cheratite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Keratoconjunctivitis HP:0001096 rdfs:label it Cheratocongiuntivite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Keratoconus HP:0000563 rdfs:label it Cheratocono CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Keratosis pilaris HP:0032152 rdfs:label it Cheratosi pilare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ketoacidosis HP:0001993 rdfs:label it Chetoacidosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ketonuria HP:0002919 rdfs:label it Chetonuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ketosis HP:0001946 rdfs:label it Chetosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ketotic hypoglycemia HP:0012734 rdfs:label it Ipoglicemia chetotica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Kinetic tremor HP:0030186 rdfs:label it Tremore cinetico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Knee clonus HP:0011449 rdfs:label it Clono del ginocchio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Knee contracture HP:0034671 rdfs:label it Contrattura del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Knee dislocation HP:0004976 rdfs:label it Dislocazione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Knee flexion contracture HP:0006380 rdfs:label it Contrazione della flessione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Knee joint hypermobility HP:0045086 rdfs:label it Ipermobilità dell'articolazione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Knee pain HP:0030839 rdfs:label it Dolore al ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Kyphoscoliosis HP:0002751 rdfs:label it cifoscoliosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Kyphosis HP:0002808 rdfs:label it Cifosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Labial hypertrophy HP:0000065 rdfs:label it Ipertrofia labiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Labial hypoplasia HP:0000066 rdfs:label it Ipoplasia delle grandi e/o piccole labbra CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Labial melanotic macule HP:0032454 rdfs:label it Macula melanotica labiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lacrimal duct stenosis HP:0007678 rdfs:label it Stenosi del dotto lacrimale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lactic acidosis HP:0003128 rdfs:label it Acidosi lattica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lacticaciduria HP:0003648 rdfs:label it Lacticaciduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lafora bodies HP:0100318 rdfs:label it Corpi di Lafora OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lambdoidal craniosynostosis HP:0004443 rdfs:label it Craniosinostosi della sutura lambdoidea OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lamina lucida cleavage HP:0003341 rdfs:label it Scissione della lamina lucida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Language impairment HP:0002463 rdfs:label it Disturbo del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Large earlobe HP:0009748 rdfs:label it Grande lobo dell'orecchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the pectoralis major muscle HP:0009751 rdfs:label it Aplasia del muscolo grande pettorale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Low hanging columella HP:0009765 rdfs:label it Columella bassa e pendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteolytic defects of the phalanges of the hand HP:0009771 rdfs:label it Difetti osteolitici delle falangi della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Symphalangism affecting the phalanges of the hand HP:0009773 rdfs:label it Sinfalangismo che colpisce le falangi della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Triangular shaped phalanges of the hand HP:0009774 rdfs:label it Falangi della mano a forma triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent thumb HP:0009777 rdfs:label it Pollice assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short thumb HP:0009778 rdfs:label it Pollice corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Large fleshy ears HP:0002265 rdfs:label it Orecchie grandi e carnose CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Large fontanelles HP:0000239 rdfs:label it Fontanelle grandi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Large for gestational age HP:0001520 rdfs:label it Grande per l'età gestazionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Large hands HP:0001176 rdfs:label it Mani grandi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Large intestinal polyposis HP:0030255 rdfs:label it Poliposi intestinale di grandi dimensioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Large joint hypermobilty HP:0430047 rdfs:label it Ipermobilità delle grandi articolazioni OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Large sella turcica HP:0002690 rdfs:label it Grande sella turcica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Laryngeal cleft HP:0008751 rdfs:label it Spaccatura laringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Laryngeal dystonia HP:0012049 rdfs:label it Distonia laringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Laryngeal stenosis HP:0001602 rdfs:label it Stenosi laringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Laryngomalacia HP:0001601 rdfs:label it Laringomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Laryngotracheal stenosis HP:0004894 rdfs:label it Stenosi laringotracheale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Laryngotracheomalacia HP:0008755 rdfs:label it Laringotracheomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lateral clavicle hook HP:0000895 rdfs:label it Gancio laterale della clavicola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lateral rectus muscle weakness HP:0031750 rdfs:label it Debolezza del muscolo retto laterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lateral ventricle dilatation HP:0006956 rdfs:label it Dilatazione del ventricolo laterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lateral ventricular asymmetry HP:0100960 rdfs:label it Asimmetria ventricolare laterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Laterally extended eyebrow HP:0011230 rdfs:label it Sopracciglio esteso lateralmente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Left anterior fascicular block HP:0011711 rdfs:label it Blocco fascicolare anteriore sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left atrial enlargement HP:0031295 rdfs:label it Ingrossamento dell'atrio sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left atrial fibrosis HP:6000691 rdfs:label it Fibrosi atriale sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left bundle branch block HP:0011713 rdfs:label it Blocco di branca del fascio sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left ventricular diastolic dysfunction HP:0025168 rdfs:label it Disfunzione diastolica del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left ventricular hypertrophy HP:0001712 rdfs:label it Ipertrofia ventricolare sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left ventricular noncompaction HP:0030682 rdfs:label it Non compattazione del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left ventricular noncompaction cardiomyopathy HP:0011664 rdfs:label it Cardiomiopatia da non compattazione del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left ventricular outflow tract obstruction HP:0032092 rdfs:label it Ostruzione del tratto di deflusso ventricolare sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left ventricular systolic dysfunction HP:0025169 rdfs:label it Disfunzione sistolica ventricolare sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Left-to-right shunt HP:0012382 rdfs:label it Shunt da sinistra a destra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leg dystonia HP:0031959 rdfs:label it Distonia delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leg muscle stiffness HP:0008969 rdfs:label it Rigidità muscolare delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lens coloboma HP:0100719 rdfs:label it Coloboma della lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lens luxation HP:0012019 rdfs:label it Lussazione della lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lens subluxation HP:0001132 rdfs:label it Sublussazione della lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Lester's sign HP:0009781 rdfs:label it Segno di Lester CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Perianal abscess HP:0009789 rdfs:label it Ascesso perianale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bifid sacrum HP:0009791 rdfs:label it Sacro bifido CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Branchial anomaly HP:0009794 rdfs:label it Anomalia branchiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cholesteatoma HP:0009797 rdfs:label it Colesteatoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Maternal diabetes HP:0009800 rdfs:label it Diabete materno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short phalanx of finger HP:0009803 rdfs:label it Falange corta del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tooth agenesis HP:0009804 rdfs:label it Agenesia dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Amelia involving the upper limbs HP:0009812 rdfs:label it Amelia che coinvolge gli arti superiori OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Upper limb phocomelia HP:0009813 rdfs:label it Focomelia dell'arto superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper limb undergrowth HP:0009824 rdfs:label it Crescita ridotta degli arti superiori CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Lethargy HP:0001254 rdfs:label it Letargia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leukemia HP:0001909 rdfs:label it Leucemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leukocoria HP:0000555 rdfs:label it Leucocoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leukocytosis HP:0001974 rdfs:label it Leucocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leukodystrophy HP:0002415 rdfs:label it Leucodistrofia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leukoencephalopathy HP:0002352 rdfs:label it Leucoencefalopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Leukopenia HP:0001882 rdfs:label it Leucopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lewy bodies HP:0100315 rdfs:label it Corpi di Lewy OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Limb ataxia HP:0002070 rdfs:label it Atassia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limb dysmetria HP:0002406 rdfs:label it Dismetria degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limb dystonia HP:0002451 rdfs:label it Distonia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limb hypertonia HP:0002509 rdfs:label it Ipertonia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limb joint contracture HP:0003121 rdfs:label it Contrattura dell'articolazione degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limb muscle weakness HP:0003690 rdfs:label it Debolezza muscolare degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limb tremor HP:0200085 rdfs:label it Tremore degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Limb undergrowth HP:0009826 rdfs:label it Sottocrescita degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peripheral neuropathy HP:0009830 rdfs:label it Neuropatia periferica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad distal phalanx of finger HP:0009836 rdfs:label it Falangi distali delle dita della mano larghe OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebellar ataxia associated with quadrupedal gait HP:0009878 rdfs:label it Atassia cerebellare associata ad andatura quadrupedica CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Simplified gyral pattern HP:0009879 rdfs:label it Schema giroscopico semplificato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short distal phalanx of finger HP:0009882 rdfs:label it Falange distale corta del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tapered distal phalanges of finger HP:0009884 rdfs:label it Falangi distali affusolate del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High anterior hairline HP:0009890 rdfs:label it Linea di capelli anteriore alta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Underdeveloped supraorbital ridges HP:0009891 rdfs:label it Creste sopraorbitali sottosviluppate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened ears HP:0009894 rdfs:label it Orecchie ispessite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Crumpled ear HP:0009901 rdfs:label it Orecchio accartocciato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft helix HP:0009902 rdfs:label it Mancanza dell'elice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin ear helix HP:0009905 rdfs:label it Elice sottile OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Attached earlobe HP:0009907 rdfs:label it Lobo dell'orecchio attaccato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anterior creases of earlobe HP:0009908 rdfs:label it Pieghe anteriori del lobo dell'orecchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Uplifted earlobe HP:0009909 rdfs:label it Lobo dell'orecchio sollevato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duane anomaly HP:0009921 rdfs:label it Anomalia di Duane CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick nasal alae HP:0009928 rdfs:label it Alae nasali spesse CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged naris HP:0009931 rdfs:label it Narici allargate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow naris HP:0009933 rdfs:label it Narici strette CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duplication of thumb phalanx HP:0009942 rdfs:label it Duplicazione della falange del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Partial duplication of thumb phalanx HP:0009944 rdfs:label it Duplicazione parziale della falange del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 1st metacarpal HP:0010034 rdfs:label it 1° metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the 1st metacarpal HP:0010035 rdfs:label it Aplasia del 1° metacarpo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 4th metacarpal HP:0010044 rdfs:label it Quarto metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 5th metacarpal HP:0010047 rdfs:label it 5° metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short metacarpal HP:0010049 rdfs:label it Metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad hallux HP:0010055 rdfs:label it Alluce largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Symphalangism affecting the phalanges of the hallux HP:0010064 rdfs:label it Sinfalangismo delle falangi dell'alluce CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short proximal phalanx of hallux HP:0010107 rdfs:label it Falange prossimale dell'alluce corta OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Short hallux HP:0010109 rdfs:label it Alluce corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mesoaxial foot polydactyly HP:0010112 rdfs:label it Polidattilia mesoassiale del piede OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cone-shaped epiphyses of the phalanges of the hand HP:0010230 rdfs:label it Epifisi a forma di cono delle falangi della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thin lower lip vermilion HP:0010282 rdfs:label it Labbro inferiore sottile e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ankyloglossia HP:0010296 rdfs:label it Anchiloglossia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bifid tongue HP:0010297 rdfs:label it Lingua bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormally low-pitched voice HP:0010300 rdfs:label it Voce dal tono anormalmente basso CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Stridor HP:0010307 rdfs:label it Stridore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ebstein anomaly of the tricuspid valve HP:0010316 rdfs:label it Anomalia di Ebstein della valvola tricuspide OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Polydactyly HP:0010442 rdfs:label it Polidattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Primum atrial septal defect HP:0010445 rdfs:label it Difetto del setto atriale primitivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tricuspid stenosis HP:0010446 rdfs:label it Stenosi tricuspidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Precocious puberty in females HP:0010465 rdfs:label it Pubertà precoce nelle femmine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oligosacchariduria HP:0010471 rdfs:label it Oligosaccariduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperextensibility at elbow HP:0010485 rdfs:label it Iperestensibilità al gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small hypothenar eminence HP:0010487 rdfs:label it Piccola eminenza ipotenaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent palmar crease HP:0010489 rdfs:label it Piega palmare assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patellar subluxation HP:0010499 rdfs:label it Sublussazione rotulea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limbal dermoid HP:0001140 rdfs:label it Dermoide limbare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limitation of joint mobility HP:0001376 rdfs:label it Limitazione della mobilità articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited ankle dorsiflexion HP:0033526 rdfs:label it Limitata dorsiflessione della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited elbow extension HP:0001377 rdfs:label it Limitata estensione del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited elbow flexion HP:0006376 rdfs:label it Flessione limitata del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited elbow movement HP:0002996 rdfs:label it Movimento limitato del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited knee extension HP:0003066 rdfs:label it Limitata estensione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited pronation/supination of forearm HP:0006394 rdfs:label it Limitata pronazione/supinazione dell'avambraccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Limited shoulder flexion HP:0033482 rdfs:label it Flessione limitata della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lip fissure HP:0031250 rdfs:label it Fessura labiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lipoatrophy HP:0100578 rdfs:label it Lipoatrofia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lipodystrophy HP:0009125 rdfs:label it Lipodistrofia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lipoma HP:0012032 rdfs:label it Lipoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lisch nodules HP:0009737 rdfs:label it Noduli di Lisch CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Livedo racemosa HP:0033260 rdfs:label it Livedo racemosa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Livedo reticularis HP:0033505 rdfs:label it Livedo reticularis CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Liver abscess HP:0100523 rdfs:label it Ascesso epatico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lobar holoprosencephaly HP:0006870 rdfs:label it Oloprosencefalia lobare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lobulated tongue HP:0000180 rdfs:label it Lingua lobulata OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Localized epidermolytic hyperkeratosis HP:0007559 rdfs:label it Ipercheratosi epidermolitica localizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Localized skin lesion HP:0011355 rdfs:label it Lesione cutanea localizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long eyelashes HP:0000527 rdfs:label it Ciglia lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long face HP:0000276 rdfs:label it Viso lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long fingers HP:0100807 rdfs:label it Dita lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long hallux HP:0001847 rdfs:label it Alluce lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long nose HP:0003189 rdfs:label it Naso lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long palpebral fissure HP:0000637 rdfs:label it Fessura palpebrale lunga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long penis HP:0000040 rdfs:label it Pene lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long philtrum HP:0000343 rdfs:label it Filetto lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long second metacarpal HP:0006040 rdfs:label it Secondo metacarpo lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Long toe HP:0010511 rdfs:label it Alluce lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia/Hypoplasia of the thymus HP:0010515 rdfs:label it Aplasia/ipoplasia del timo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dyslexia HP:0010522 rdfs:label it Dislessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Disturbed sensory perception HP:0010524 rdfs:label it Disturbo della percezione sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Echolalia HP:0010529 rdfs:label it Ecolalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Paroxysmal vertigo HP:0010532 rdfs:label it Vertigine parossistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sleep apnea HP:0010535 rdfs:label it Apnea notturna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central sleep apnea HP:0010536 rdfs:label it Apnea centrale del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertical nystagmus HP:0010544 rdfs:label it Nistagmo verticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle fibrillation HP:0010546 rdfs:label it Fibrillazione muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oculogyric crisis HP:0010553 rdfs:label it Crisi oculogira CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutaneous finger syndactyly HP:0010554 rdfs:label it Sindattilia cutanea delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertical clivus HP:0010559 rdfs:label it Clivus verticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Keloids HP:0010562 rdfs:label it Cheloidi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bifid epiglottis HP:0010564 rdfs:label it Epiglottide bifida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Y-shaped metatarsals HP:0010567 rdfs:label it Metatarsali a forma di Y CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating 7-dehydrocholesterol concentration HP:0010569 rdfs:label it Elevata concentrazione di 7-deidrocolesterolo in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysplasia of the femoral head HP:0010575 rdfs:label it Displasia della testa del femore OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Intracranial cystic lesion HP:0010576 rdfs:label it Lesione cistica intracranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cone-shaped epiphysis HP:0010579 rdfs:label it Epifisi a forma di cono CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Irregular epiphyses HP:0010582 rdfs:label it Epifisi irregolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Type 2 muscle fiber predominance HP:0010602 rdfs:label it Prevalenza di fibre muscolari di tipo 2 CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chalazion HP:0010605 rdfs:label it Chalazion CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Angiofibromas HP:0010615 rdfs:label it Angiofibromi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutaneous syndactyly of toes HP:0010621 rdfs:label it Sindattilia cutanea delle dita dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anterior pituitary hypoplasia HP:0010627 rdfs:label it Ipoplasia dell'ipofisi anteriore OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Facial palsy HP:0010628 rdfs:label it Paralisi facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the epiphyses of the feet HP:0010631 rdfs:label it Anomalia delle epifisi dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated alkaline phosphatase of bone origin HP:0010639 rdfs:label it Fosfatasi alcalina elevata di origine ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cervical spine instability HP:0010646 rdfs:label it Instabilità del rachide cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dermal translucency HP:0010648 rdfs:label it Traslucenza cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the zygomatic bone HP:0010669 rdfs:label it Ipoplasia dell'osso zigomatico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enuresis nocturna HP:0010677 rdfs:label it Enuresi notturna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal immunoglobulin level HP:0010701 rdfs:label it Livello anomalo di immunoglobuline CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating antibody level HP:0010702 rdfs:label it Aumento del livello di anticorpi circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 1-2 finger syndactyly HP:0010704 rdfs:label it Sindattilia di 1-2 dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal hair pattern HP:0010720 rdfs:label it Modello di capelli anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal hair whorl HP:0010721 rdfs:label it Cordiera di capelli anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Asymmetry of the ears HP:0010722 rdfs:label it Asimmetria delle orecchie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cherry red spot of the macula HP:0010729 rdfs:label it Macchia rosso ciliegia della macula CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short metatarsal HP:0010743 rdfs:label it Metatarso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long upper lip HP:0011341 rdfs:label it Labbro superiore lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long uvula HP:0010810 rdfs:label it Ugola lunga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Long-tract signs HP:0002423 rdfs:label it Segni dei tratti lunghi CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lop ear HP:0000394 rdfs:label it Orecchio a sventola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Loss of ability to walk in first decade HP:0006794 rdfs:label it Perdita della capacità di camminare nella prima decade di vita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Loss of ambulation HP:0002505 rdfs:label it Perdita della deambulazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Loss of speech HP:0002371 rdfs:label it Perdita del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Loss of subcutaneous adipose tissue in limbs HP:0003635 rdfs:label it Perdita di tessuto adiposo sottocutaneo negli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low anterior hairline HP:0000294 rdfs:label it Bassa attaccatura dei capelli anteriori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low back pain HP:0003419 rdfs:label it Dolore lombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low cholesterol esterification rate HP:0003349 rdfs:label it Bassa velocità di esterificazione del colesterolo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Low frustration tolerance HP:0000744 rdfs:label it Bassa tolleranza alla frustrazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low hanging columella HP:0009765 rdfs:label it Columella bassa e pendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low insertion of columella HP:0010763 rdfs:label it Bassa inserzione della columella CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low posterior hairline HP:0002162 rdfs:label it Bassa attaccatura posteriore dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low serum calcitriol HP:0012052 rdfs:label it Basso livello di calcitriolo sierico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low-frequency hearing loss HP:0008542 rdfs:label it Perdita dell'udito a bassa frequenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low-molecular-weight proteinuria HP:0003126 rdfs:label it proteinuria a basso peso molecolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low-set ears HP:0000369 rdfs:label it Orecchie basse CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low-set nipples HP:0002562 rdfs:label it Capezzoli poco pronunciati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Low-set, posteriorly rotated ears HP:0000368 rdfs:label it Orecchie a impianto basso e retroruotate OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lower eyelid coloboma HP:0000652 rdfs:label it Coloboma della palpebra inferiore OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lower limb amyotrophy HP:0007210 rdfs:label it Amiotrofia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lower limb asymmetry HP:0100559 rdfs:label it Asimmetria degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lower limb hyperreflexia HP:0002395 rdfs:label it Iperreflessia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lower limb hypertonia HP:0006895 rdfs:label it Ipertonia degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lower limb muscle weakness HP:0007340 rdfs:label it Debolezza muscolare degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lower limb pain HP:0012514 rdfs:label it Dolore agli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lower limb spasticity HP:0002061 rdfs:label it Spasticità degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lumbar hemivertebrae HP:0008439 rdfs:label it Emivertebre lombari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lumbar hyperlordosis HP:0002938 rdfs:label it Iperlordosi lombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lumbar hypolordosis HP:0034770 rdfs:label it Ipolordosi lombare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lumbar kyphosis HP:0008454 rdfs:label it cifosi lombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lumbosacral hirsutism HP:0009747 rdfs:label it Irsutismo lombosacrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lumbosacral meningocele HP:0200133 rdfs:label it Meningocele lombosacrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lung abscess HP:0025044 rdfs:label it Ascesso polmonare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Lupus anticoagulant HP:0025343 rdfs:label it Lupus anticoagulante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lupus nephritis HP:0033726 rdfs:label it Lupus nefritico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphadenitis HP:0002840 rdfs:label it Linfadenite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphadenopathy HP:0002716 rdfs:label it Linfoadenopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphangioma HP:0100764 rdfs:label it Linfoangioma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphedema HP:0001004 rdfs:label it Linfedema CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphocytic interstitial pneumonia HP:0006527 rdfs:label it Polmonite interstiziale linfocitaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphocytosis HP:0100827 rdfs:label it Linfocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphopenia HP:0001888 rdfs:label it Linfopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Lymphoproliferative disorder HP:0005523 rdfs:label it Disordine linfoproliferativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macrocephaly HP:0000256 rdfs:label it Macrocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macrodontia HP:0001572 rdfs:label it Macrodontia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macrodontia of permanent maxillary central incisor HP:0000675 rdfs:label it Macrodontia dell'incisivo centrale permanente mascellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macroglossia HP:0000158 rdfs:label it Macroglossia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macroorchidism HP:0000053 rdfs:label it Macroorchidismo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Macroscopic hematuria HP:0012587 rdfs:label it Ematuria macroscopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macrotia HP:0000400 rdfs:label it Macrozia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macular atrophy HP:0007401 rdfs:label it Atrofia maculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macular dystrophy HP:0007754 rdfs:label it Distrofia maculare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Macular hyperpigmentation HP:0011509 rdfs:label it Iperpigmentazione maculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Macular hypoplasia HP:0001104 rdfs:label it Ipoplasia maculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Madelung deformity HP:0003067 rdfs:label it Deformità del madelungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Maintenance insomnia HP:0031355 rdfs:label it Insonnia di mantenimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Malabsorption HP:0002024 rdfs:label it Malassorbimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Malaise HP:0033834 rdfs:label it Malessere CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Malar flattening HP:0000272 rdfs:label it Appiattimento malare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Malar rash HP:0025300 rdfs:label it Rash malare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Male infertility HP:0003251 rdfs:label it Infertilità maschile OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Male urethral meatus stenosis HP:0032077 rdfs:label it Stenosi del meato uretrale maschile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Malignant hyperthermia HP:0002047 rdfs:label it Ipertermia maligna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Malnutrition HP:0004395 rdfs:label it Malnutrizione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mandibular condyle hypoplasia HP:0007628 rdfs:label it Ipoplasia del condilo mandibolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mandibular prognathia HP:0000303 rdfs:label it Prognatismo mandibolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Marked delay in bone age HP:0003799 rdfs:label it Marcato ritardo nell'età ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mask-like facies HP:0000298 rdfs:label it Faccia a maschera CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mastoiditis HP:0000265 rdfs:label it Mastoidite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Maternal diabetes HP:0009800 rdfs:label it Diabete materno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Maternal hypertension HP:0008071 rdfs:label it Ipertensione materna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Maturity-onset diabetes of the young HP:0004904 rdfs:label it Diabete giovanile ad insorgenza matura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Meat allergen allergy HP:0410330 rdfs:label it Allergia agli allergeni della carne CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Meckel diverticulum HP:0002245 rdfs:label it Diverticolo di Meckel OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Meconium stained amniotic fluid HP:0012420 rdfs:label it Liquido amniotico macchiato di meconio CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Medial flaring of the eyebrow HP:0010747 rdfs:label it Svasatura mediale del sopracciglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Blepharochalasis HP:0010749 rdfs:label it Blefarocalasi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Dermatochalasis HP:0010750 rdfs:label it Dermatocasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dimple chin HP:0010751 rdfs:label it Mento a fossetta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the premaxilla HP:0010757 rdfs:label it Aplasia premascellare CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent toe HP:0010760 rdfs:label it Alluce assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad columella HP:0010761 rdfs:label it Ampia columella CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Low insertion of columella HP:0010763 rdfs:label it Bassa inserzione della columella CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short eyelashes HP:0010764 rdfs:label it Ciglia corte OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Palmar hyperkeratosis HP:0010765 rdfs:label it Ipercheratosi palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anomalous pulmonary venous return HP:0010772 rdfs:label it Ritorno venoso polmonare anomalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Partial anomalous pulmonary venous return HP:0010773 rdfs:label it Ritorno venoso polmonare anomalo parziale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vascular ring HP:0010775 rdfs:label it Anello vascolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperacusis HP:0010780 rdfs:label it Iperacusia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Erythema HP:0010783 rdfs:label it Eritema CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired visuospatial constructive cognition HP:0010794 rdfs:label it Compromissione della cognizione costruttiva visuo-spaziale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar glioma HP:0010795 rdfs:label it Glioma cerebellare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent cupid's bow HP:0010800 rdfs:label it Arco di cupido assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Everted upper lip vermilion HP:0010803 rdfs:label it Labbro superiore estroflesso vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tented upper lip vermilion HP:0010804 rdfs:label it Vermiglio del labbro superiore lacerato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en U-Shaped upper lip vermilion HP:0010806 rdfs:label it Vermiglio del labbro superiore a forma di U CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Open bite HP:0010807 rdfs:label it Morso aperto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Protruding tongue HP:0010808 rdfs:label it Lingua protrudente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Broad uvula HP:0010809 rdfs:label it Ugola larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long uvula HP:0010810 rdfs:label it Ugola lunga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow uvula HP:0010811 rdfs:label it Ugola sottile OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Short uvula HP:0010812 rdfs:label it Ugola corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized tonic seizure HP:0010818 rdfs:label it Crisi tonica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atonic seizure HP:0010819 rdfs:label it Crisi atonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal emotional seizure with laughing HP:0010821 rdfs:label it Crisi emotiva focale con risata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired tactile sensation HP:0010830 rdfs:label it Sensazione tattile compromessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired proprioception HP:0010831 rdfs:label it Propriocezione alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating copper concentration HP:0010836 rdfs:label it Concentrazione anormale di rame in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating ceruloplasmin concentration HP:0010837 rdfs:label it Diminuzione della concentrazione di ceruloplasmina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multifocal epileptiform discharges HP:0010841 rdfs:label it Scariche epilettiformi multifocali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with focal slow activity HP:0010843 rdfs:label it EEG con attività lenta focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with multifocal slow activity HP:0010844 rdfs:label it EEG con attività lenta multifocale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with generalized slow activity HP:0010845 rdfs:label it EEG con attività lenta generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with spike-wave complexes (<2.5 Hz) HP:0010847 rdfs:label it EEG con complessi di onde di punta (<2,5 Hz) CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with spike-wave complexes (2.5-3.5 Hz) HP:0010848 rdfs:label it EEG con complessi di onde spike (2,5-3,5 Hz) CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with spike-wave complexes HP:0010850 rdfs:label it EEG con complessi di onde di punta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with burst suppression HP:0010851 rdfs:label it EEG con soppressione del burst CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed fine motor development HP:0010862 rdfs:label it Ritardo nello sviluppo della motricità fine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Receptive language delay HP:0010863 rdfs:label it Ritardo del linguaggio ricettivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intellectual disability, severe HP:0010864 rdfs:label it Disabilità intellettiva grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en T-wave inversion HP:0010872 rdfs:label it Inversione delle onde T OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Chaddock reflex HP:0010875 rdfs:label it Riflesso di Chaddock OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Monocular strabismus HP:0010877 rdfs:label it Strabismo monoculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fetal cystic hygroma HP:0010878 rdfs:label it Igroma cistico fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased nuchal translucency HP:0010880 rdfs:label it Aumento della translucenza nucale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the umbilical cord HP:0010881 rdfs:label it Anomalia del cordone ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary valve atresia HP:0010882 rdfs:label it Atresia della valvola polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acromelia HP:0010884 rdfs:label it Acromelia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Osteochondritis dissecans HP:0010886 rdfs:label it Osteocondrite dissecante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypervalinemia HP:0010910 rdfs:label it Ipervalinemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperleucinemia HP:0010911 rdfs:label it Iperleucinemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperisoleucinemia HP:0010913 rdfs:label it Iperisoleucinemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal blood sodium concentration HP:0010931 rdfs:label it Concentrazione anormale di sodio nel sangue OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Xanthinuria HP:0010934 rdfs:label it Xantinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal external nose morphology HP:0010938 rdfs:label it Anomalia della morfologia del naso esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Echogenic fetal bowel HP:0010943 rdfs:label it Intestino fetale ecogeno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fetal pyelectasis HP:0010945 rdfs:label it Pielectasia fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilatation of the renal pelvis HP:0010946 rdfs:label it Dilatazione della pelvi renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Noncommunicating hydrocephalus HP:0010953 rdfs:label it Idrocefalo non comunicante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal B cell count HP:0010975 rdfs:label it Conta anomala delle cellule B CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en B lymphocytopenia HP:0010976 rdfs:label it Linfocitopenia B CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cerebral subcortex morphology HP:0010993 rdfs:label it Morfologia anomala della sottocorteccia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased bone mineral density HP:0011001 rdfs:label it Aumento della densità minerale ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en High myopia HP:0011003 rdfs:label it Miopia elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal blood glucose concentration HP:0011015 rdfs:label it Concentrazione anomala di glucosio nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the gastrointestinal tract HP:0011024 rdfs:label it Anomalia del tratto gastrointestinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased urine output HP:0011037 rdfs:label it Diminuzione della produzione di urina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal helix morphology HP:0011039 rdfs:label it Morfologia anormale dell'elice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal blood potassium concentration HP:0011042 rdfs:label it Concentrazione anormale di potassio nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agenesis of premolar HP:0011051 rdfs:label it Agenesia del premolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Supernumerary tooth HP:0011069 rdfs:label it Dente soprannumerario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Incisor macrodontia HP:0011081 rdfs:label it Macrodontia degli incisivi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Talon cusp HP:0011087 rdfs:label it Cuspide dell'artiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mulberry molar HP:0011092 rdfs:label it Gelso molare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased overbite HP:0011094 rdfs:label it Aumento dell'overbite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peripheral demyelination HP:0011096 rdfs:label it Demielinizzazione periferica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epileptic spasm HP:0011097 rdfs:label it Spasmo epilettico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Speech apraxia HP:0011098 rdfs:label it Aprassia del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic hemiparesis HP:0011099 rdfs:label it Emiparesi spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypovolemia HP:0011106 rdfs:label it Ipovolemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent aphthous stomatitis HP:0011107 rdfs:label it Stomatite aftosa ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Recurrent sinusitis HP:0011108 rdfs:label it Sinusite ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Chronic sinusitis HP:0011109 rdfs:label it Sinusite cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent tonsillitis HP:0011110 rdfs:label it Tonsillite ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Concave nasal ridge HP:0011120 rdfs:label it Cresta nasale concava CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral fetal pyelectasis HP:0011129 rdfs:label it Pielectasia fetale bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic furunculosis HP:0011132 rdfs:label it Foruncolosi cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Typical absence seizure HP:0011147 rdfs:label it Tipica crisi d'assenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal motor seizure HP:0011153 rdfs:label it Crisi motoria focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal autonomic seizure HP:0011154 rdfs:label it Crisi autonomica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal myoclonic seizure HP:0011166 rdfs:label it Crisi mioclonica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal tonic seizure HP:0011167 rdfs:label it Crisi tonica focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal seizure with eyelid myoclonia HP:0011168 rdfs:label it Crisi focale con mioclonia palpebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized clonic seizure HP:0011169 rdfs:label it Crisi clonica generalizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized myoclonic-atonic seizure HP:0011170 rdfs:label it Crisi mioclonico-atoniche generalizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Simple febrile seizure HP:0011171 rdfs:label it Crisi febbrile semplice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Complex febrile seizure HP:0011172 rdfs:label it Crisi febbrile complessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal behavior arrest seizure HP:0011173 rdfs:label it Crisi di arresto del comportamento focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal hyperkinetic seizure HP:0011174 rdfs:label it Crisi ipercinetiche focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal motor seizure with version HP:0011175 rdfs:label it Crisi motoria focale con versione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Beta-EEG HP:0011179 rdfs:label it Beta-EEG CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Interictal epileptiform activity HP:0011182 rdfs:label it Attività epilettiforme interictale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with focal epileptiform discharges HP:0011185 rdfs:label it EEG con scariche epilettiformi focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal EEG discharges with secondary generalization HP:0011188 rdfs:label it Scariche EEG focali con generalizzazione secondaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral multifocal epileptiform discharges HP:0011189 rdfs:label it Scariche epilettiformi multifocali bilaterali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unilateral multifocal epileptiform discharges HP:0011191 rdfs:label it Scariche epilettiformi multifocali unilaterali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with focal spikes HP:0011193 rdfs:label it EEG con spikes focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with focal sharp slow waves HP:0011195 rdfs:label it EEG con onde lente acute focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with focal sharp waves HP:0011196 rdfs:label it EEG con onde focali acute CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with focal spike waves HP:0011197 rdfs:label it EEG con onde di picco focali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with generalized epileptiform discharges HP:0011198 rdfs:label it EEG con scariche epilettiformi generalizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with generalized sharp slow waves HP:0011199 rdfs:label it EEG con onde lente acute generalizzate CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with changes in voltage HP:0011201 rdfs:label it EEG con variazioni di voltaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with abnormally slow frequencies HP:0011203 rdfs:label it EEG con frequenze anormalmente lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with continuous slow activity HP:0011204 rdfs:label it EEG con attività lenta continua CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with intermittent slow activity HP:0011205 rdfs:label it EEG con attività lenta intermittente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with generalized slow activity grade 1 HP:0011206 rdfs:label it EEG con attività lenta generalizzata di grado 1 CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with occipital slowing HP:0011210 rdfs:label it EEG con rallentamento occipitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemihypsarrhythmia HP:0011215 rdfs:label it Emiaritmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent forehead HP:0011220 rdfs:label it Fronte sporgente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epiblepharon HP:0011225 rdfs:label it Epiblepharon CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating C-reactive protein concentration HP:0011227 rdfs:label it Elevata concentrazione di proteina C-reattiva circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Horizontal eyebrow HP:0011228 rdfs:label it Sopracciglio orizzontale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad eyebrow HP:0011229 rdfs:label it Sopracciglio largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laterally extended eyebrow HP:0011230 rdfs:label it Sopracciglio esteso lateralmente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Prominent eyelashes HP:0011231 rdfs:label it Ciglia prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent stem of antihelix HP:0011240 rdfs:label it Gambo prominente dell'antielica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Darwin tubercle of helix HP:0011261 rdfs:label it Tubercolo dell'elice di Darwin CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft earlobe HP:0011265 rdfs:label it Schisi del lobo auricolare CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Prominent tragus HP:0011271 rdfs:label it Trago prominente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Underdeveloped tragus HP:0011272 rdfs:label it Trago sottosviluppato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anisocytosis HP:0011273 rdfs:label it Anisocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent mycobacterial infections HP:0011274 rdfs:label it Infezioni micobatteriche ricorrenti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormality of urine calcium concentration HP:0011280 rdfs:label it Anomalia della concentrazione di calcio nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with parietal sharp slow waves HP:0011288 rdfs:label it EEG con onde lente acute parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with temporal sharp slow waves HP:0011289 rdfs:label it EEG con onde lente acute temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with frontal sharp slow waves HP:0011290 rdfs:label it EEG con onde lente frontali acute CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with central sharp slow waves HP:0011291 rdfs:label it EEG con onde lente acute centrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with occipital sharp waves HP:0011292 rdfs:label it EEG con onde acute occipitali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with central sharp waves HP:0011293 rdfs:label it EEG con onde acute centrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with frontal sharp waves HP:0011294 rdfs:label it EEG con onde frontali acute CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with parietal sharp waves HP:0011295 rdfs:label it EEG con onde acute parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with temporal sharp waves HP:0011296 rdfs:label it EEG con onde acute temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad fingertip HP:0011300 rdfs:label it Polpastrello largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad thumb HP:0011304 rdfs:label it Pollice largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow nail HP:0011313 rdfs:label it Unghia stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bicoronal synostosis HP:0011318 rdfs:label it Sinostosi bicoronale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft of chin HP:0011323 rdfs:label it Manipolazione del mento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Posterior plagiocephaly HP:0011327 rdfs:label it Plagiocefalia posteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Median cleft palate HP:0009099 rdfs:label it Palatoschisi mediana CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Median cleft upper lip HP:0000161 rdfs:label it Labiopalatoschisi mediana CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Median pseudocleft lip HP:0034185 rdfs:label it Labbro pseudosinistro mediano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mediastinal lymphadenopathy HP:0100721 rdfs:label it Linfoadenopatia mediastinica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Medullary nephrocalcinosis HP:0012408 rdfs:label it Nefrocalcinosi midollare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Medullary thyroid carcinoma HP:0002865 rdfs:label it Carcinoma midollare della tiroide OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Megakaryocytopenia HP:0005548 rdfs:label it Megacariocitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Megalencephaly HP:0001355 rdfs:label it Megalencefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Megaloblastic anemia HP:0001889 rdfs:label it Anemia megaloblastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Megaloblastic bone marrow HP:0001980 rdfs:label it Midollo osseo megaloblastico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Megalocornea HP:0000485 rdfs:label it Megalocornea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Melanocytic nevus HP:0000995 rdfs:label it Nevo melanocitico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Memory impairment HP:0002354 rdfs:label it Disturbo della memoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Meningioma HP:0002858 rdfs:label it Meningioma OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Meningocele HP:0002435 rdfs:label it Meningocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Menorrhagia HP:0000132 rdfs:label it Menorragia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Mental deterioration HP:0001268 rdfs:label it Deterioramento mentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mesangial hypercellularity HP:0012574 rdfs:label it Ipercellularità mesangiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mesoaxial foot polydactyly HP:0010112 rdfs:label it Polidattilia mesoassiale del piede OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Mesoaxial hand polydactyly HP:0006159 rdfs:label it Polidattilia mesoassiale della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Mesomelia HP:0003027 rdfs:label it Mesomelia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mesomelic leg shortening HP:0004987 rdfs:label it Accorciamento mesomelico delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Metabolic acidosis HP:0001942 rdfs:label it Acidosi metabolica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Metabolic alkalosis HP:0200114 rdfs:label it Alcalosi metabolica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Metaphyseal cupping HP:0003021 rdfs:label it "Deformazione ""a coppa"" delle metafisi" CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Metaphyseal irregularity HP:0003025 rdfs:label it Irregolarità della metafisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Metaphyseal widening HP:0003016 rdfs:label it Allargamento della metafisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Metatarsus adductus HP:0001840 rdfs:label it Metatarso adduttore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Methylmalonic acidemia HP:0002912 rdfs:label it Acidemia metilmalonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Methylmalonic aciduria HP:0012120 rdfs:label it Aciduria metilmalonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Metopic synostosis HP:0011330 rdfs:label it Sinostosi metopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long upper lip HP:0011341 rdfs:label it Labbro superiore lungo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microcephaly HP:0000252 rdfs:label it Microcefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microcornea HP:0000482 rdfs:label it Microcornea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microcytic anemia HP:0001935 rdfs:label it Anemia microcitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microdontia HP:0000691 rdfs:label it Microdontia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microglossia HP:0000171 rdfs:label it Microglossia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Micrognathia HP:0000347 rdfs:label it Micrognazia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Micrographia HP:0031908 rdfs:label it Micrografia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microlissencephaly HP:0045028 rdfs:label it Microlissencefalia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Micronodular cirrhosis HP:0001413 rdfs:label it Cirrosi micronodulare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Micropenis HP:0000054 rdfs:label it Micropene CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microphthalmia HP:0000568 rdfs:label it Microftalmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microretrognathia HP:0000308 rdfs:label it Microretrognatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microscopic hematuria HP:0002907 rdfs:label it Ematuria microscopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microspherophakia HP:0030961 rdfs:label it Microsferofachia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microtia HP:0008551 rdfs:label it Microtia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Microvesicular hepatic steatosis HP:0001414 rdfs:label it Steatosi epatica microvescicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Midface retrusion HP:0011800 rdfs:label it Retrusione della faccia centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Midline central nervous system lipomas HP:0006866 rdfs:label it Lipomi del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Midline facial cleft HP:0100629 rdfs:label it Mancanza di linea mediana del viso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Migraine HP:0002076 rdfs:label it Emicrania CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Mild global developmental delay HP:0011342 rdfs:label it Lieve ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mild hearing impairment HP:0012712 rdfs:label it Lieve deficit dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mild hypermetropia HP:0031728 rdfs:label it Lieve ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mild malformation of cortical development HP:0032059 rdfs:label it Malformazione lieve dello sviluppo corticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mild myopia HP:0025573 rdfs:label it Lieve miopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mild short stature HP:0003502 rdfs:label it Bassa statura lieve CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mildly elevated creatine kinase HP:0008180 rdfs:label it Creatina chinasi lievemente elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mildly reduced left ventricular ejection fraction HP:0012663 rdfs:label it Frazione di eiezione ventricolare sinistra lievemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mildly reduced visual acuity HP:0032037 rdfs:label it Acutezza visiva lievemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Milia HP:0001056 rdfs:label it Milia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Minimal change glomerulonephritis HP:0012579 rdfs:label it Glomerulonefrite a variazione minima CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Miosis HP:0000616 rdfs:label it Miosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Mitochondrial depletion HP:0030059 rdfs:label it Deplezione mitocondriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mitral atresia HP:0011560 rdfs:label it Atresia mitralica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Mitral chordae tendinae rupture HP:0034419 rdfs:label it Rottura delle corde tendinee mitraliche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mitral regurgitation HP:0001653 rdfs:label it Rigurgito mitralico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mitral stenosis HP:0001718 rdfs:label it Stenosi mitralica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mitral valve prolapse HP:0001634 rdfs:label it Prolasso della valvola mitrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mixed demyelinating and axonal polyneuropathy HP:0007327 rdfs:label it Polineuropatia mista demielinizzante e assonale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mixed hearing impairment HP:0000410 rdfs:label it Disturbo misto dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mobitz I atrioventricular block HP:0011707 rdfs:label it Blocco atrioventricolare Mobitz I CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Moderate global developmental delay HP:0011343 rdfs:label it Moderato ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe global developmental delay HP:0011344 rdfs:label it Grave ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized abnormality of skin HP:0011354 rdfs:label it Anomalia generalizzata della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Localized skin lesion HP:0011355 rdfs:label it Lesione cutanea localizzata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dry hair HP:0011359 rdfs:label it Capelli secchi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the semicircular canal HP:0011381 rdfs:label it Aplasia del canale semicircolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplasia of the semicircular canal HP:0011382 rdfs:label it Ipoplasia del canale semicircolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderate hypermetropia HP:0031729 rdfs:label it Moderata ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderate intrauterine growth retardation HP:0011408 rdfs:label it Ritardo di crescita intrauterino moderato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderate myopia HP:0031624 rdfs:label it Miopia moderata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderate sensorineural hearing impairment HP:0008504 rdfs:label it Moderato deficit uditivo neurosensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderate to late preterm birth HP:0025664 rdfs:label it Nascita pretermine da moderata a tardiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderately reduced left ventricular ejection fraction HP:0012665 rdfs:label it Frazione di eiezione ventricolare sinistra moderatamente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Moderately reduced visual acuity HP:0030515 rdfs:label it Acutezza visiva moderatamente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Molar tooth sign on MRI HP:0002419 rdfs:label it Segno dei denti molari alla risonanza magnetica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Molluscoid pseudotumors HP:0000993 rdfs:label it Pseudotumori molluscoidi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Molluscum contagiosum HP:0032163 rdfs:label it Mollusco contagioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Monocular strabismus HP:0010877 rdfs:label it Strabismo monoculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Monocytosis HP:0012311 rdfs:label it Monocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Monotonic speech HP:0031435 rdfs:label it Monotonia della voce CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Morphological central nervous system abnormality HP:0002011 rdfs:label it Anomalia morfologica del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor axonal neuropathy HP:0007002 rdfs:label it Neuropatia assonale motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor delay HP:0001270 rdfs:label it Ritardo motorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor deterioration HP:0002333 rdfs:label it Deterioramento motorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor polyneuropathy HP:0007178 rdfs:label it Polineuropatia motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor regression HP:0033044 rdfs:label it Regressione motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor stereotypy HP:0000733 rdfs:label it Stereotipia motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Motor tics HP:0100034 rdfs:label it Tic motori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mottled pigmentation HP:0001070 rdfs:label it Pigmentazione a chiazze CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mucopolysacchariduria HP:0008155 rdfs:label it Mucopolisaccariduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mulberry molar HP:0011092 rdfs:label it Gelso molare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multicystic kidney dysplasia HP:0000003 rdfs:label it Displasia renale multicistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multifocal cerebral white matter abnormalities HP:0007052 rdfs:label it Anomalie multifocali della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multifocal epileptiform discharges HP:0010841 rdfs:label it Scariche epilettiformi multifocali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multifocal hyperintensity of cerebral white matter on MRI HP:0040329 rdfs:label it Iperintensità multifocale della sostanza bianca cerebrale alla RMN CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multifocal seizures HP:0031165 rdfs:label it Crisi multifocali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple cafe-au-lait spots HP:0007565 rdfs:label it Macchie multiple cafe-au-lait CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple enchondromatosis HP:0005701 rdfs:label it Encondromatosi multipla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple exostoses HP:0002762 rdfs:label it Esostosi multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple joint contractures HP:0002828 rdfs:label it Contratture articolari multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple joint dislocation HP:0012095 rdfs:label it Lussazioni articolari multiple OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Multiple lentigines HP:0001003 rdfs:label it Lentiggini multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple lipomas HP:0001012 rdfs:label it Lipomi multipli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple mitochondrial DNA deletions HP:0003689 rdfs:label it Delezioni multiple del DNA mitocondriale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Multiple prenatal fractures HP:0005855 rdfs:label it Fratture multiple prenatali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Multiple renal cysts HP:0005562 rdfs:label it Cisti renali multiple CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscle fiber atrophy HP:0100295 rdfs:label it Atrofia delle fibre muscolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscle fiber inclusion bodies HP:0100299 rdfs:label it Inclusioni nelle fibre muscolari CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Muscle fiber necrosis HP:0003713 rdfs:label it Necrosi delle fibre muscolari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Muscle fiber splitting HP:0003555 rdfs:label it Scissione delle fibre muscolari CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Muscle fibrillation HP:0010546 rdfs:label it Fibrillazione muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscle hypertrophy of the lower extremities HP:0008968 rdfs:label it Ipertrofia muscolare degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscle spasm HP:0003394 rdfs:label it Spasmo muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscle stiffness HP:0003552 rdfs:label it Rigidità muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscle weakness HP:0001324 rdfs:label it Debolezza muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscular dystrophy HP:0003560 rdfs:label it Distrofia muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Muscular ventricular septal defect HP:0011623 rdfs:label it Difetto del setto ventricolare muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mutism HP:0002300 rdfs:label it Mutismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myalgia HP:0003326 rdfs:label it Mialgia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Mydriasis HP:0011499 rdfs:label it Midriasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myelodysplasia HP:0002863 rdfs:label it Mielodisplasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myelofibrosis HP:0011974 rdfs:label it Mielofibrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myelokathexis HP:0031160 rdfs:label it Mielocatessi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Myelomeningocele HP:0002475 rdfs:label it Mielomeningocele OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Myelopathy HP:0002196 rdfs:label it Mielopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myocardial fibrosis HP:0001685 rdfs:label it Fibrosi del miocardio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myocarditis HP:0012819 rdfs:label it Miocardite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myoclonic seizure HP:0032794 rdfs:label it Crisi mioclonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myoclonic spasms HP:0003739 rdfs:label it Spasmi mioclonici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myoclonus HP:0001336 rdfs:label it Mioclono CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myofiber disarray HP:0031318 rdfs:label it Disordine delle miofibre CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myoglobinuria HP:0002913 rdfs:label it Mioglobinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myokymia HP:0002411 rdfs:label it Miochimia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Myopathic facies HP:0002058 rdfs:label it Facies miopatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myopathy HP:0003198 rdfs:label it Miopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myopia HP:0000545 rdfs:label it Miopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myopic astigmatism HP:0500041 rdfs:label it Astigmatismo miopico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myositis HP:0100614 rdfs:label it Miosite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Myotonia HP:0002486 rdfs:label it Miotonia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en NREM parasomnia HP:0025235 rdfs:label it Parasonnia NREM CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nail dysplasia HP:0002164 rdfs:label it Displasia ungueale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nail dystrophy HP:0008404 rdfs:label it Distrofia ungueale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow chest HP:0000774 rdfs:label it Torace stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow face HP:0000275 rdfs:label it Viso stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow foot HP:0001786 rdfs:label it Piede stretto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Narrow forehead HP:0000341 rdfs:label it Fronte stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Narrow internal auditory canal HP:0011386 rdfs:label it Canale uditivo interno ristretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged vestibular aqueduct HP:0011387 rdfs:label it Acquedotto vestibolare ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal CNS myelination HP:0011400 rdfs:label it Anomalia della mielinizzazione del SNC CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proportionate tall stature HP:0011407 rdfs:label it Alta statura proporzionata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Moderate intrauterine growth retardation HP:0011408 rdfs:label it Ritardo di crescita intrauterino moderato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Caesarian section HP:0011410 rdfs:label it Parto cesareo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ventouse delivery HP:0011412 rdfs:label it Parto ventoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder dystocia HP:0011413 rdfs:label it Distocia della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Death in adolescence HP:0011421 rdfs:label it Morte nell'adolescenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal blood chloride concentration HP:0011422 rdfs:label it Concentrazione anormale di cloruro nel sangue OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Enlarged fetal cisterna magna HP:0011427 rdfs:label it Cisterna magna fetale ingrossata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of coordination HP:0011443 rdfs:label it Anomalia della coordinazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of mental function HP:0011446 rdfs:label it Anomalia della funzione mentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ankle clonus HP:0011448 rdfs:label it Clono della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Knee clonus HP:0011449 rdfs:label it Clono del ginocchio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Primary microcephaly HP:0011451 rdfs:label it Microcefalia primaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow mouth HP:0000160 rdfs:label it Bocca stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow nail HP:0011313 rdfs:label it Unghia stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow naris HP:0009933 rdfs:label it Narici strette CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow nasal bridge HP:0000446 rdfs:label it Ponte nasale stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow nasal ridge HP:0000418 rdfs:label it Cresta nasale stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow nose HP:0000460 rdfs:label it Naso stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow palate HP:0000189 rdfs:label it Palato stretto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow palm HP:0004283 rdfs:label it Palmo della mano stretto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Narrow palpebral fissure HP:0045025 rdfs:label it Fessura palpebrale stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrow philtrum HP:0011829 rdfs:label it Filtro stretto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Narrow uvula HP:0010811 rdfs:label it Ugola sottile OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Narrow vertebral interpedicular distance HP:0008450 rdfs:label it Distanza interpedicolare vertebrale ristretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Narrowing of medullary canal HP:0032458 rdfs:label it Restringimento del canale midollare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Nasal flaring HP:0030863 rdfs:label it Svasatura nasale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nasogastric tube feeding HP:0040288 rdfs:label it Alimentazione con tubo nasogastrico CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Nasogastric tube feeding in infancy HP:0011470 rdfs:label it Alimentazione con sondino nasogastrico nella prima infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastrostomy tube feeding in infancy HP:0011471 rdfs:label it Alimentazione con tubo gastrostomico nell'infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Villous atrophy HP:0011473 rdfs:label it Atrofia dei villi intestinali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased corneal thickness HP:0011487 rdfs:label it Aumento dello spessore corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mydriasis HP:0011499 rdfs:label it Midriasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cystoid macular edema HP:0011505 rdfs:label it Edema maculare cistoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Macular hyperpigmentation HP:0011509 rdfs:label it Iperpigmentazione maculare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Discordant atrioventricular connection HP:0011553 rdfs:label it Connessione atrio-ventricolare discordante CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mitral atresia HP:0011560 rdfs:label it Atresia mitralica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Common atrium HP:0011565 rdfs:label it Atrio comune CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sinus venosus atrial septal defect HP:0011567 rdfs:label it Difetto del setto atriale del seno venoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft anterior mitral valve leaflet HP:0011569 rdfs:label it Mancanza del lembo anteriore della valvola mitrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Partial atrioventricular canal defect HP:0011577 rdfs:label it Difetto parziale del canale atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Interrupted aortic arch HP:0011611 rdfs:label it Arco aortico interrotto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Interrupted aortic arch type B HP:0011613 rdfs:label it Arco aortico interrotto di tipo B CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscular ventricular septal defect HP:0011623 rdfs:label it Difetto del setto ventricolare muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scimitar anomaly HP:0011626 rdfs:label it Sindrome della scimitarra CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal coronary artery origin HP:0011636 rdfs:label it Origine anomala delle arterie coronarie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anomalous origin of right coronary artery from the pulmonary artery HP:0011639 rdfs:label it Origine anomala dell'arteria coronaria destra dall'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coronary artery fistula HP:0011641 rdfs:label it Fistola coronarica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Dilatation of the sinus of Valsalva HP:0011645 rdfs:label it Dilatazione del seno di Valsalva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Patent ductus arteriosus after birth at term HP:0011648 rdfs:label it Brevetto del dotto arterioso dopo la nascita a termine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tricuspid atresia HP:0011662 rdfs:label it Atresia tricuspidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left ventricular noncompaction cardiomyopathy HP:0011664 rdfs:label it Cardiomiopatia da non compattazione del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arrhythmia HP:0011675 rdfs:label it Aritmia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Perimembranous ventricular septal defect HP:0011682 rdfs:label it Difetto del setto ventricolare perimembranoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sinus tachycardia HP:0011703 rdfs:label it Tachicardia sinusale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en First degree atrioventricular block HP:0011705 rdfs:label it Blocco atrioventricolare di primo grado CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Second degree atrioventricular block HP:0011706 rdfs:label it Blocco atrioventricolare di secondo grado CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mobitz I atrioventricular block HP:0011707 rdfs:label it Blocco atrioventricolare Mobitz I CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrioventricular dissociation HP:0011709 rdfs:label it Dissociazione atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left anterior fascicular block HP:0011711 rdfs:label it Blocco fascicolare anteriore sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Right bundle branch block HP:0011712 rdfs:label it Blocco di branca destra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left bundle branch block HP:0011713 rdfs:label it Blocco di branca del fascio sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central adrenal insufficiency HP:0011734 rdfs:label it Insufficienza surrenalica centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Adrenocorticotropic hormone deficiency HP:0011748 rdfs:label it Carenza di ormone adrenocorticotropo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Midface retrusion HP:0011800 rdfs:label it Retrusione della faccia centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hamartoma of tongue HP:0011802 rdfs:label it Amartoma della lingua OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bifid nose HP:0011803 rdfs:label it Naso bifido CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased patellar reflex HP:0011808 rdfs:label it Diminuzione del riflesso rotuleo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased urinary hypoxanthine level HP:0011814 rdfs:label it Aumento del livello urinario di ipoxantina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Submucous cleft soft palate HP:0011819 rdfs:label it Palato molle fessurato sottomucoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad chin HP:0011822 rdfs:label it Mento largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrow philtrum HP:0011829 rdfs:label it Filtro stretto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal T cell count HP:0011839 rdfs:label it Conta anomala delle cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal bone ossification HP:0011849 rdfs:label it Ossificazione ossea anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Parotitis HP:0011850 rdfs:label it Parotite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pica HP:0011856 rdfs:label it Pica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired arachidonic acid-induced platelet aggregation HP:0011870 rdfs:label it Compromissione dell'aggregazione piastrinica indotta da acido arachidonico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired ristocetin-induced platelet aggregation HP:0011871 rdfs:label it Compromissione dell'aggregazione piastrinica indotta da ristocetina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal platelet count HP:0011873 rdfs:label it Conta piastrinica anormale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased mean platelet volume HP:0011877 rdfs:label it Aumento del volume medio delle piastrine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal leukocyte count HP:0011893 rdfs:label it Conta leucocitaria anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nasolacrimal duct obstruction HP:0000579 rdfs:label it Ostruzione del dotto nasolacrimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Natal tooth HP:0000695 rdfs:label it Dente natale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nausea HP:0002018 rdfs:label it Nausea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neck flexor weakness HP:0003722 rdfs:label it Debolezza dei flessori del collo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neck muscle weakness HP:0000467 rdfs:label it Debolezza muscolare del collo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nemaline bodies HP:0003798 rdfs:label it Corpi nemalici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal hyperbilirubinemia HP:0003265 rdfs:label it Iperbilirubinemia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal hypoglycemia HP:0001998 rdfs:label it Ipoglicemia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal hypoproteinemia HP:0008360 rdfs:label it Ipoproteinemia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal hypotonia HP:0001319 rdfs:label it Ipotonia neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal omphalitis HP:0032435 rdfs:label it Oftalite neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal onset HP:0003623 rdfs:label it Insorgenza neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neonatal respiratory distress HP:0002643 rdfs:label it Distress respiratorio neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neoplasm HP:0002664 rdfs:label it Neoplasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nephrocalcinosis HP:0000121 rdfs:label it Nefrocalcinosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nephrolithiasis HP:0000787 rdfs:label it Nefrolitiasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nephrotic syndrome HP:0000100 rdfs:label it Sindrome nefrosica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neuroblastoma HP:0003006 rdfs:label it Neuroblastoma OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Neurodegeneration HP:0002180 rdfs:label it Neurodegenerazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neurodevelopmental abnormality HP:0012759 rdfs:label it Anomalia del neurosviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neurodevelopmental delay HP:0012758 rdfs:label it Ritardo del neurosviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neurofibrillary tangles HP:0002185 rdfs:label it Grovigli neurofibrillari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Neurofibroma HP:0001067 rdfs:label it Neurofibroma OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Neurogenic bladder HP:0000011 rdfs:label it Vescica neurogena CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neuronal loss in central nervous system HP:0002529 rdfs:label it Perdita di neuroni nel sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neuronal loss in the cerebral cortex HP:0007190 rdfs:label it Perdita di neuroni nella corteccia cerebrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Neutropenia HP:0001875 rdfs:label it Neutropenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neutropenia in presence of anti-neutropil antibodies HP:0001904 rdfs:label it Neutropenia in presenza di anticorpi anti-neutropile CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Neutrophilia HP:0011897 rdfs:label it Neutrofilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of circulating fibrinogen HP:0011898 rdfs:label it Anomalia del fibrinogeno circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypofibrinogenemia HP:0011900 rdfs:label it Ipofibrinogenemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Persistence of hemoglobin F HP:0011904 rdfs:label it Persistenza di emoglobina F CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short 5th toe HP:0011917 rdfs:label it 5° dito del piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pleural empyema HP:0011919 rdfs:label it Empiema pleurico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased activity of mitochondrial complex I HP:0011923 rdfs:label it Diminuzione dell'attività del complesso mitocondriale I CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased activity of mitochondrial complex III HP:0011924 rdfs:label it Diminuzione dell'attività del complesso III mitocondriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased activity of mitochondrial ATP synthase complex HP:0011925 rdfs:label it Diminuzione dell'attività del complesso mitocondriale ATP sintasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short digit HP:0011927 rdfs:label it Digitale corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased urinary urate HP:0011935 rdfs:label it Diminuzione dell'urato urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 3-4 finger cutaneous syndactyly HP:0011939 rdfs:label it Sindattilia cutanea delle 3-4 dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anterior wedging of T12 HP:0011940 rdfs:label it Incuneamento anteriore di T12 CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small vessel vasculitis HP:0011944 rdfs:label it Vasculite dei piccoli vasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Respiratory tract infection HP:0011947 rdfs:label it Infezione delle vie respiratorie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bronchiolitis HP:0011950 rdfs:label it Bronchiolite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aspiration pneumonia HP:0011951 rdfs:label it Polmonite da aspirazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acute aspiration pneumonia HP:0011952 rdfs:label it Polmonite acuta da aspirazione OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Nodular regenerative hyperplasia of liver HP:0011954 rdfs:label it Iperplasia rigenerativa nodulare del fegato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated plasma citrulline HP:0011966 rdfs:label it Elevazione della citrullina plasmatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating copper concentration HP:0011967 rdfs:label it Diminuzione della concentrazione di rame in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Feeding difficulties HP:0011968 rdfs:label it Difficoltà di alimentazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating luteinizing hormone level HP:0011969 rdfs:label it Elevati livelli di ormone luteinizzante circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Myelofibrosis HP:0011974 rdfs:label it Mielofibrosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acholic stools HP:0011985 rdfs:label it Feci acoliche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ectopic ossification in muscle tissue HP:0011987 rdfs:label it Ossificazione ectopica nel tessuto muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrial septal dilatation HP:0011995 rdfs:label it Dilatazione del setto atriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with generalized spikes HP:0012000 rdfs:label it EEG con spike generalizzati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with generalized polyspikes HP:0012001 rdfs:label it EEG con polipi generalizzati CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with frontal focal spike waves HP:0012010 rdfs:label it EEG con onde di spike focali frontali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with parietal focal spike waves HP:0012012 rdfs:label it EEG con onde di punta focali parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with temporal focal spike waves HP:0012013 rdfs:label it EEG con onde di spike focali temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with central focal spikes HP:0012014 rdfs:label it EEG con picchi focali centrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with frontal focal spikes HP:0012015 rdfs:label it EEG con picchi focali frontali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with occipital focal spikes HP:0012016 rdfs:label it EEG con picchi focali occipitali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with parietal focal spikes HP:0012017 rdfs:label it EEG con picchi focali parietali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with temporal focal spikes HP:0012018 rdfs:label it EEG con picchi focali temporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lens luxation HP:0012019 rdfs:label it Lussazione della lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Right aortic arch HP:0012020 rdfs:label it Arco aortico destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypergalactosemia HP:0012024 rdfs:label it Ipergalattosemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lipoma HP:0012032 rdfs:label it Lipoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Corneal guttata HP:0012038 rdfs:label it Guttata corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pendular nystagmus HP:0012043 rdfs:label it Nistagmo pendolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Areflexia of upper limbs HP:0012046 rdfs:label it Areflessia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemeralopia HP:0012047 rdfs:label it Emeralopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oromandibular dystonia HP:0012048 rdfs:label it Distonia oromandibolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Laryngeal dystonia HP:0012049 rdfs:label it Distonia laringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anasarca HP:0012050 rdfs:label it Anasarca OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Low serum calcitriol HP:0012052 rdfs:label it Basso livello di calcitriolo sierico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating acylcarnitine concentration HP:0012071 rdfs:label it Concentrazione anormale di acilcarnitina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pyuria HP:0012085 rdfs:label it Piuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal pancreas morphology HP:0012090 rdfs:label it Morfologia anomala del pancreas CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multiple joint dislocation HP:0012095 rdfs:label it Lussazioni articolari multiple OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Edema of the dorsum of feet HP:0012098 rdfs:label it Edema del dorso dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating creatinine concentration HP:0012100 rdfs:label it Concentrazione anormale di creatinina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the mitochondrion HP:0012103 rdfs:label it Anomalia del mitocondrio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Parietal cortical atrophy HP:0012104 rdfs:label it Atrofia corticale parietale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Occipital cortical atrophy HP:0012105 rdfs:label it Atrofia corticale occipitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Open angle glaucoma HP:0012108 rdfs:label it Glaucoma ad angolo aperto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Angle closure glaucoma HP:0012109 rdfs:label it Glaucoma da chiusura d'angolo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoplasia of the pons HP:0012110 rdfs:label it Ipoplasia del pons CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatitis HP:0012115 rdfs:label it Epatite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperalbuminemia HP:0012117 rdfs:label it Iperalbuminemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Methylmalonic aciduria HP:0012120 rdfs:label it Aciduria metilmalonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Uraciluria HP:0012127 rdfs:label it Uraciluria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Erythroid hyperplasia HP:0012132 rdfs:label it Iperplasia eritroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysplastic erythropoesis HP:0012134 rdfs:label it Eritropoiesi displastica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal megakaryocyte morphology HP:0012143 rdfs:label it Morfologia anomala dei megacariociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hemophagocytosis HP:0012156 rdfs:label it Emofagocitosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Subcortical cerebral atrophy HP:0012157 rdfs:label it Atrofia cerebrale sottocorticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carotid artery dissection HP:0012158 rdfs:label it Dissezione dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carotid artery dilatation HP:0012163 rdfs:label it Dilatazione dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hair-pulling HP:0012167 rdfs:label it Tirata di capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Head-banging HP:0012168 rdfs:label it Sbattimento della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stereotypical hand wringing HP:0012171 rdfs:label it Strizzamento stereotipato delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stereotypical body rocking HP:0012172 rdfs:label it Dondolamento stereotipato del corpo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced natural killer cell activity HP:0012178 rdfs:label it Ridotta attività delle cellule natural killer OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cystic medial necrosis HP:0012180 rdfs:label it Necrosi cistica mediale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Entrapment neuropathy HP:0012181 rdfs:label it Neuropatia da intrappolamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Constrictive median neuropathy HP:0012185 rdfs:label it Neuropatia mediana costrittiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased erythrocyte protoporphyrin concentration HP:0012187 rdfs:label it Aumento della concentrazione di protoporfirina negli eritrociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hodgkin lymphoma HP:0012189 rdfs:label it Linfoma di Hodgkin CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en T-cell lymphoma HP:0012190 rdfs:label it Linfoma a cellule T OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cutaneous T-cell lymphoma HP:0012192 rdfs:label it Linfoma cutaneo a cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased serum bile acid concentration HP:0012202 rdfs:label it Aumento della concentrazione sierica di acidi biliari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Onychomycosis HP:0012203 rdfs:label it Onicomicosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent vulvovaginal candidiasis HP:0012204 rdfs:label it Candidosi vulvovaginale ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Globozoospermia HP:0012205 rdfs:label it Globozoospermia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced sperm motility HP:0012207 rdfs:label it Ridotta motilità degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Juvenile myelomonocytic leukemia HP:0012209 rdfs:label it Leucemia mielomonocitica giovanile OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal renal morphology HP:0012210 rdfs:label it Morfologia renale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal renal physiology HP:0012211 rdfs:label it Fisiologia renale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased glomerular filtration rate HP:0012213 rdfs:label it Ridotta velocità di filtrazione glomerulare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Shortened QT interval HP:0012232 rdfs:label it Intervallo QT accorciato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased intramyocellular lipid droplets HP:0012240 rdfs:label it Aumento delle goccioline lipidiche intramiocellulari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oculomotor nerve palsy HP:0012246 rdfs:label it Paralisi del nervo oculomotore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal ST segment HP:0012249 rdfs:label it Segmento ST anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en ST segment elevation HP:0012251 rdfs:label it Innalzamento del segmento ST CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal ciliary motility HP:0012262 rdfs:label it Motilità ciliare anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en T-wave alternans HP:0012266 rdfs:label it Alternanza dell'onda T OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Fusion of gums HP:0012292 rdfs:label it Fusione delle gengive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Type II transferrin isoform profile HP:0012301 rdfs:label it Profilo dell'isoforma della transferrina di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic aortic arch HP:0012304 rdfs:label it Arco aortico ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Monocytosis HP:0012311 rdfs:label it Monocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pyelonephritis HP:0012330 rdfs:label it Pielonefrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal autonomic nervous system physiology HP:0012332 rdfs:label it Fisiologia anomala del sistema nervoso autonomo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating ferritin concentration HP:0012343 rdfs:label it Diminuzione della concentrazione di ferritina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal protein N-linked glycosylation HP:0012347 rdfs:label it Anomalia della glicosilazione N-linked delle proteine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal protein O-linked glycosylation HP:0012358 rdfs:label it Anomalie della glicosilazione O-linkata delle proteine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Basilar invagination HP:0012366 rdfs:label it Invaginazione basilare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flat face HP:0012368 rdfs:label it Faccia piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominence of the zygomatic bone HP:0012370 rdfs:label it Prominenza dell'osso zigomatico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal eye morphology HP:0012372 rdfs:label it Morfologia anomala dell'occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fatigue HP:0012378 rdfs:label it Affaticamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left-to-right shunt HP:0012382 rdfs:label it Shunt da sinistra a destra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rhinitis HP:0012384 rdfs:label it Rinite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Camptodactyly HP:0012385 rdfs:label it Camptodattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bronchitis HP:0012387 rdfs:label it Bronchite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Appendicular hypotonia HP:0012389 rdfs:label it Ipotonia appendicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyporeflexia of upper limbs HP:0012391 rdfs:label it Iporeflessia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Allergy HP:0012393 rdfs:label it Allergia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Seasonal allergy HP:0012395 rdfs:label it Allergia stagionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypocitraturia HP:0012405 rdfs:label it Ipocitraturia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scissor gait HP:0012407 rdfs:label it Andatura a forbice OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Medullary nephrocalcinosis HP:0012408 rdfs:label it Nefrocalcinosi midollare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Premature adrenarche HP:0012412 rdfs:label it Adrenarca precoce CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Notched primary central incisor HP:0012413 rdfs:label it Incisivo centrale primario dentellato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Meconium stained amniotic fluid HP:0012420 rdfs:label it Liquido amniotico macchiato di meconio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased femoral anteversion HP:0012427 rdfs:label it Aumento dell'antiversione del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Prominent calcaneus HP:0012428 rdfs:label it Calcagno prominente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aplasia/Hypoplasia of the cerebral white matter HP:0012429 rdfs:label it Aplasia/ipoplasia della sostanza bianca cerebrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebral white matter hypoplasia HP:0012430 rdfs:label it Ipoplasia della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic fatigue HP:0012432 rdfs:label it Stanchezza cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal social behavior HP:0012433 rdfs:label it Comportamento sociale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed early-childhood social milestone development HP:0012434 rdfs:label it Ritardo nello sviluppo delle tappe sociali nella prima infanzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal brain morphology HP:0012443 rdfs:label it Morfologia cerebrale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brain atrophy HP:0012444 rdfs:label it Atrofia cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal myelination HP:0012447 rdfs:label it Mielinizzazione anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed myelination HP:0012448 rdfs:label it Ritardo nella mielinizzazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic constipation HP:0012450 rdfs:label it Stitichezza cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Restless legs HP:0012452 rdfs:label it Gambe senza riposo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral wrist flexion contracture HP:0012453 rdfs:label it Contrattura bilaterale della flessione del polso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated transferrin saturation HP:0012463 rdfs:label it Elevata saturazione della transferrina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased transferrin saturation HP:0012464 rdfs:label it Ridotta saturazione della transferrina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated hepatic iron concentration HP:0012465 rdfs:label it Elevata concentrazione di ferro nel fegato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Chronic respiratory acidosis HP:0012466 rdfs:label it Acidosi respiratoria cronica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Infantile spasms HP:0012469 rdfs:label it Spasmi infantili CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick vermilion border HP:0012471 rdfs:label it Bordo vermiglio spesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eclabion HP:0012472 rdfs:label it Eclabion CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tongue atrophy HP:0012473 rdfs:label it Atrofia della lingua CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carotid artery occlusion HP:0012474 rdfs:label it Occlusione dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased specific pneumococcal antibody level HP:0012476 rdfs:label it Diminuzione del livello di anticorpi specifici contro lo pneumococco CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Temporomandibular joint ankylosis HP:0012478 rdfs:label it Anchilosi dell'articolazione temporo-mandibolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal dense granules HP:0012484 rdfs:label it Granuli densi anomali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Panniculitis HP:0012490 rdfs:label it Panniculite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebral artery stenosis HP:0012492 rdfs:label it Stenosi dell'arteria cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Neutrophilic infiltration of the skin HP:0031234 rdfs:label it Infiltrazione neutrofila della pelle OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Nevus HP:0003764 rdfs:label it Nevo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nevus flammeus HP:0001052 rdfs:label it Nevo flammeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nevus flammeus nuchae HP:0007616 rdfs:label it Nevo flammeo nucale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nevus flammeus of the forehead HP:0007413 rdfs:label it Nevo flammeo della fronte OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en No social interaction HP:0008763 rdfs:label it Nessuna interazione sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nocturnal seizures HP:0031951 rdfs:label it Crisi epilettiche notturne CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nodular regenerative hyperplasia of liver HP:0011954 rdfs:label it Iperplasia rigenerativa nodulare del fegato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Noncommunicating hydrocephalus HP:0010953 rdfs:label it Idrocefalo non comunicante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nonimmune hydrops fetalis HP:0001790 rdfs:label it Idrope fetale non immune CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nonproductive cough HP:0031246 rdfs:label it Tosse non produttiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nonprogressive cerebellar ataxia HP:0002470 rdfs:label it Atassia cerebellare non progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nonprogressive encephalopathy HP:0007030 rdfs:label it Encefalopatia non progressiva OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Nontuberculous mycobacterial pulmonary infection HP:0032261 rdfs:label it Infezione polmonare da micobatteri non tubercolari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Normal interictal EEG HP:0002372 rdfs:label it EEG interictale normale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Normal pressure hydrocephalus HP:0002343 rdfs:label it Idrocefalo normoteso OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Normocytic anemia HP:0001897 rdfs:label it Anemia normocitica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Notched primary central incisor HP:0012413 rdfs:label it Incisivo centrale primario dentellato CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Nuchal cord HP:0012498 rdfs:label it Cordone nucale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Descending aortic dissection HP:0012499 rdfs:label it Dissezione aortica discendente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the internal capsule HP:0012502 rdfs:label it Anomalia della capsula interna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small pituitary gland HP:0012506 rdfs:label it Piccola ghiandola pituitaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weakness of orbicularis oculi muscle HP:0012507 rdfs:label it Debolezza del muscolo orbicolare dell'occhio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Temporal optic disc pallor HP:0012511 rdfs:label it Pallore temporale della papilla ottica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Diffuse optic disc pallor HP:0012512 rdfs:label it Pallore diffuso del disco ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower limb pain HP:0012514 rdfs:label it Dolore agli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilation of Virchow-Robin spaces HP:0012520 rdfs:label it Dilatazione degli spazi di Virchow-Robin CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nuclear cataract HP:0100018 rdfs:label it Cataratta nucleare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nut food product allergy HP:0410331 rdfs:label it Allergia ai prodotti alimentari a base di frutta a guscio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nyctalopia HP:0000662 rdfs:label it Nictalopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Nystagmus HP:0000639 rdfs:label it Nistagmo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Obesity HP:0001513 rdfs:label it Obesità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Obsessive-compulsive trait HP:0008770 rdfs:label it Tratto ossessivo-compulsivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Obstipation HP:0034782 rdfs:label it Costipazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Obstructive sleep apnea HP:0002870 rdfs:label it Apnea ostruttiva del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Occipital cortical atrophy HP:0012105 rdfs:label it Atrofia corticale occipitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ocular hypertension HP:0007906 rdfs:label it Ipertensione oculare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Oculogyric crisis HP:0010553 rdfs:label it Crisi oculogira CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oculomotor apraxia HP:0000657 rdfs:label it Aprassia oculomotoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oculomotor nerve palsy HP:0012246 rdfs:label it Paralisi del nervo oculomotore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oligoclonal T cell expansion HP:0031430 rdfs:label it Espansione delle cellule T oligoclonali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oligodontia HP:0000677 rdfs:label it Oligodonzia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oligohydramnios HP:0001562 rdfs:label it Oligoidramnios CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oligomenorrhea HP:0000876 rdfs:label it Oligomenorrea OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Oligosacchariduria HP:0010471 rdfs:label it Oligosaccariduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oligozoospermia HP:0000798 rdfs:label it Oligozoospermia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Omphalocele HP:0001539 rdfs:label it Omphalocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Onycholysis HP:0001806 rdfs:label it Onicolisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Onycholysis of fingernails HP:0040039 rdfs:label it Onicolisi delle unghie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Onychomycosis HP:0012203 rdfs:label it Onicomicosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Onychotillomania HP:0032509 rdfs:label it Onicotillomania OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Open angle glaucoma HP:0012108 rdfs:label it Glaucoma ad angolo aperto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Open bite HP:0010807 rdfs:label it Morso aperto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Open mouth HP:0000194 rdfs:label it Bocca aperta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ophthalmoparesis HP:0000597 rdfs:label it Oftalmoparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ophthalmoplegia HP:0000602 rdfs:label it Oftalmoplegia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Opisthotonus HP:0002179 rdfs:label it Opistotono CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oppenheim reflex HP:0030180 rdfs:label it Riflesso di Oppenheim CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Optic atrophy HP:0000648 rdfs:label it Atrofia ottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Optic disc coloboma HP:0000588 rdfs:label it Coloboma del nervo ottico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Optic disc hypoplasia HP:0007766 rdfs:label it Ipoplasia del disco ottico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Optic disc pallor HP:0000543 rdfs:label it Pallore del disco ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Optic nerve glioma HP:0009734 rdfs:label it Glioma del nervo ottico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Optic nerve hypoplasia HP:0000609 rdfs:label it Ipoplasia del nervo ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Optic neuropathy HP:0001138 rdfs:label it Neuropatia ottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Oral aversion HP:0012523 rdfs:label it Avversione orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal number of alpha granules HP:0012528 rdfs:label it Numero anormale di alfa granuli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oral bleeding HP:0040184 rdfs:label it Sanguinamento orale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Oral leukoplakia HP:0002745 rdfs:label it Leucoplachia orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oral melanotic macule HP:0032451 rdfs:label it Maculo melanotico orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oral ulcer HP:0000155 rdfs:label it Ulcera orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oral-pharyngeal dysphagia HP:0200136 rdfs:label it Disfagia oro-faringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Orange urine HP:0032002 rdfs:label it Urine arancioni OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Organic aciduria HP:0001992 rdfs:label it Aciduria organica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Orofacial cleft HP:0000202 rdfs:label it Spaccatura orofacciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Orofacial dyskinesia HP:0002310 rdfs:label it Discinesia orofacciale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Oromandibular dystonia HP:0012048 rdfs:label it Distonia oromandibolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oromotor apraxia HP:0007301 rdfs:label it Aprassia omotoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oroticaciduria HP:0003218 rdfs:label it Oroticaciduria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Orthokeratosis HP:0040162 rdfs:label it Ortocheratosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Orthostatic hypotension HP:0001278 rdfs:label it Ipotensione ortostatica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Os odontoideum HP:0005667 rdfs:label it Os odontoideum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteoarthritis HP:0002758 rdfs:label it Osteoartrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteochondritis dissecans HP:0010886 rdfs:label it Osteocondrite dissecante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteolytic defects of the phalanges of the hand HP:0009771 rdfs:label it Difetti osteolitici delle falangi della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteomyelitis HP:0002754 rdfs:label it Osteomielite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteopenia HP:0000938 rdfs:label it Osteopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteoporosis HP:0000939 rdfs:label it Osteoporosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Osteoporosis of vertebrae HP:0005625 rdfs:label it Osteoporosi vertebrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Osteosarcoma HP:0002669 rdfs:label it Osteosarcoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Otitis externa HP:0410017 rdfs:label it Otite esterna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Otitis media HP:0000388 rdfs:label it Otite media CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Oval face HP:0000300 rdfs:label it Viso ovale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ovarian cyst HP:0000138 rdfs:label it Cisti ovarica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Overfolded helix HP:0000396 rdfs:label it Elica troppo ripiegata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Overfriendliness HP:0100025 rdfs:label it Eccessiva cordialità CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Overgrowth HP:0001548 rdfs:label it Crescita eccessiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Overlapping toe HP:0001845 rdfs:label it Alluce sovrapposto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Overriding aorta HP:0002623 rdfs:label it Destroposizione aortica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Overtubulated long bones HP:0006391 rdfs:label it Ossa lunghe sovradimensionate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Overweight HP:0025502 rdfs:label it Sovrappeso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ovoid vertebral bodies HP:0003300 rdfs:label it Corpi vertebrali ovoidali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pachygyria HP:0001302 rdfs:label it Pachigiria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Paget disease of bone HP:0034159 rdfs:label it Malattia di Paget dell'osso OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Pain HP:0012531 rdfs:label it Dolore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic pain HP:0012532 rdfs:label it Dolore cronico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysesthesia HP:0012534 rdfs:label it Disestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cephalohematoma HP:0012541 rdfs:label it Cefaloematoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating aldolase concentration HP:0012544 rdfs:label it Elevata concentrazione di aldolasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fatty replacement of skeletal muscle HP:0012548 rdfs:label it Sostituzione grassa del muscolo scheletrico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EEG with centrotemporal focal spike waves HP:0012557 rdfs:label it EEG con onde di spike focali centrotemporali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Global proximal tubulopathy HP:0012573 rdfs:label it Tubulopatia prossimale globale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mesangial hypercellularity HP:0012574 rdfs:label it Ipercellularità mesangiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Minimal change glomerulonephritis HP:0012579 rdfs:label it Glomerulonefrite a variazione minima CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unilateral renal hypoplasia HP:0012583 rdfs:label it Ipoplasia renale unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral renal hypoplasia HP:0012584 rdfs:label it Ipoplasia renale bilaterale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Macroscopic hematuria HP:0012587 rdfs:label it Ematuria macroscopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Albuminuria HP:0012592 rdfs:label it Albuminuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyponatriuria HP:0012604 rdfs:label it Iponatriuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal sodium wasting HP:0012606 rdfs:label it Perdita renale di sodio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypermagnesiuria HP:0012608 rdfs:label it Ipermagnesiuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of urinary uric acid level HP:0012610 rdfs:label it Anomalia del livello di acido urico urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic kidney disease HP:0012622 rdfs:label it Malattia renale cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stage 1 chronic kidney disease HP:0012623 rdfs:label it Insufficienza renale cronica al primo stadio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Stage 2 chronic kidney disease HP:0012624 rdfs:label it Insufficienza renale cronica al secondo stadio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Stage 3 chronic kidney disease HP:0012625 rdfs:label it Insufficienza renale cronica al terzo stadio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Stage 4 chronic kidney disease HP:0012626 rdfs:label it Insufficienza renale cronica al quarto stadio OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal intraocular pressure HP:0012632 rdfs:label it Pressione intraoculare anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal calcium wasting HP:0012637 rdfs:label it Deperimento renale di calcio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Perisylvian polymicrogyria HP:0012650 rdfs:label it Polimicrogiria perisilviana CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal brain FDG positron emission tomography HP:0012658 rdfs:label it Tomografia ad emissione di positroni FDG cerebrale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mildly reduced left ventricular ejection fraction HP:0012663 rdfs:label it Frazione di eiezione ventricolare sinistra lievemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced left ventricular ejection fraction HP:0012664 rdfs:label it Riduzione della frazione di eiezione ventricolare sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Moderately reduced left ventricular ejection fraction HP:0012665 rdfs:label it Frazione di eiezione ventricolare sinistra moderatamente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severely reduced left ventricular ejection fraction HP:0012666 rdfs:label it Frazione di eiezione ventricolare sinistra gravemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Iron accumulation in brain HP:0012675 rdfs:label it Accumulo di ferro nel cervello OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pineal cyst HP:0012683 rdfs:label it Cisti pineale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal T2 hyperintense thalamic lesion HP:0012692 rdfs:label it Lesione talamica focale T2 iperintensa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small basal ganglia HP:0012697 rdfs:label it Gangli basali ridotti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal subarachnoid space morphology HP:0012703 rdfs:label it Morfologia anomala dello spazio subaracnoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Widened subarachnoid space HP:0012704 rdfs:label it Spazio subaracnoideo allargato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated brain lactate level by MRS HP:0012707 rdfs:label it Elevato livello di lattato cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced brain N-acetyl aspartate level by MRS HP:0012708 rdfs:label it Ridotto livello di N-acetil aspartato cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mild hearing impairment HP:0012712 rdfs:label it Lieve deficit dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe hearing impairment HP:0012714 rdfs:label it Grave deficit dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Heart block HP:0012722 rdfs:label it Blocco cardiaco CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutaneous syndactyly HP:0012725 rdfs:label it Sindattilia cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thoracic aortic aneurysm HP:0012727 rdfs:label it Aneurisma dell'aorta toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ectopic anterior pituitary gland HP:0012731 rdfs:label it Ipofisi anteriore ectopica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ketotic hypoglycemia HP:0012734 rdfs:label it Ipoglicemia chetotica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cough HP:0012735 rdfs:label it Tosse CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Profound global developmental delay HP:0012736 rdfs:label it Grave ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unilateral cryptorchidism HP:0012741 rdfs:label it Criptorchidismo unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abdominal obesity HP:0012743 rdfs:label it Obesità addominale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short palpebral fissure HP:0012745 rdfs:label it Fessura palpebrale corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal brainstem MRI signal intensity HP:0012747 rdfs:label it Intensità anomala del segnale RM del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal T2 hyperintense brainstem lesion HP:0012748 rdfs:label it Lesione focale T2 iperintensa del tronco encefalico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal basal ganglia MRI signal intensity HP:0012751 rdfs:label it Intensità anomala del segnale della risonanza magnetica dei gangli della base CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en T2 hypointense basal ganglia HP:0012753 rdfs:label it Gangli della base ipointensi in T2 OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Neurodevelopmental delay HP:0012758 rdfs:label it Ritardo del neurosviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neurodevelopmental abnormality HP:0012759 rdfs:label it Anomalia del neurosviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced social reciprocity HP:0012760 rdfs:label it Ridotta reciprocità sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral white matter atrophy HP:0012762 rdfs:label it Atrofia della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Widened cerebral subarachnoid space HP:0012766 rdfs:label it Spazio subaracnoideo cerebrale allargato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased arm span HP:0012771 rdfs:label it Aumento dell'ampiezza delle braccia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal upper to lower segment ratio HP:0012772 rdfs:label it Rapporto anormale tra segmento superiore e inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced upper to lower segment ratio HP:0012773 rdfs:label it Riduzione del rapporto tra segmento superiore e inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flexion contracture of finger HP:0012785 rdfs:label it Contrattura da flessione del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent cystitis HP:0012786 rdfs:label it Cistite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal optic disc morphology HP:0012795 rdfs:label it Morfologia anomala del disco ottico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary lymphangiomyomatosis HP:0012798 rdfs:label it Linfangiomiomatosi polmonare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anisometropia HP:0012803 rdfs:label it Anisometropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Corneal ulceration HP:0012804 rdfs:label it Ulcerazione corneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Iris transillumination defect HP:0012805 rdfs:label it Difetto di transilluminazione dell'iride CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Proboscis HP:0012806 rdfs:label it Proboscide OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Wide nasal base HP:0012810 rdfs:label it Base nasale ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Wide nasal ridge HP:0012811 rdfs:label it Cresta nasale larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myocarditis HP:0012819 rdfs:label it Miocardite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epilepsia partialis continua HP:0012847 rdfs:label it Epilessia partialis continua CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic bridging fibrosis HP:0012852 rdfs:label it Fibrosi epatica a ponte OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal sperm head morphology HP:0012865 rdfs:label it Morfologia anomala della testa degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Varicocele HP:0012871 rdfs:label it Varicocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Posteriorly placed anus HP:0012890 rdfs:label it Ano posizionato posteriormente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal motor evoked potentials HP:0012896 rdfs:label it Potenziali evocati motori anormali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper limb dysmetria HP:0020036 rdfs:label it Dismetria degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Esodeviation HP:0020045 rdfs:label it Esodeviazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Exodeviation HP:0020049 rdfs:label it Esodeviazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypopigmented macule HP:0020073 rdfs:label it Macula ipopigmentata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pain insensitivity HP:0007021 rdfs:label it Insensibilità al dolore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pallor HP:0000980 rdfs:label it Pallore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palmar hyperhidrosis HP:0006089 rdfs:label it Iperidrosi palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palmar hyperkeratosis HP:0010765 rdfs:label it Ipercheratosi palmare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palmomental reflex HP:0030902 rdfs:label it Riflesso palmomentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palmoplantar hyperhidrosis HP:0007410 rdfs:label it Iperidrosi palmoplantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palmoplantar hyperkeratosis HP:0000972 rdfs:label it Ipercheratosi palmoplantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palmoplantar keratoderma HP:0000982 rdfs:label it Cheratoderma palmoplantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Palpebral thickening HP:0030939 rdfs:label it Ispessimento palpebrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Palpitations HP:0001962 rdfs:label it Palpitazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pancreatic atrophy HP:6000156 rdfs:label it Atrofia pancreatica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pancreatic cysts HP:0001737 rdfs:label it Cisti pancreatiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pancreatitis HP:0001733 rdfs:label it Pancreatite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pancytopenia HP:0001876 rdfs:label it Pancitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Panniculitis HP:0012490 rdfs:label it Panniculite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Papilledema HP:0001085 rdfs:label it Papilledema CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Pappenheimer bodies HP:0020081 rdfs:label it Corpi di Pappenheimer CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en BCGitis HP:0020086 rdfs:label it BCGite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en BCGosis HP:0020087 rdfs:label it BCGosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pneumocystis jirovecii pneumonia HP:0020102 rdfs:label it Polmonite da Pneumocystis jirovecii CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe giardiasis HP:0020106 rdfs:label it Grave giardiasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the olfactory tract HP:0020128 rdfs:label it Aplasia del tratto olfattivo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Thickening of the tubular basement membrane HP:0020132 rdfs:label it Ispessimento della membrana basale tubulare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-dsDNA antibody positivity HP:0020151 rdfs:label it Positività anticorpi anti-dsDNA CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Distal joint hypermobility HP:0020152 rdfs:label it Ipermobilità delle articolazioni distali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated haptoglobin level HP:0020180 rdfs:label it Elevato livello di aptoglobina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced haptoglobin level HP:0020181 rdfs:label it Riduzione del livello di aptoglobina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Z-band streaming HP:0020203 rdfs:label it Streaming della banda Z CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Simple ear HP:0020206 rdfs:label it Orecchio semplice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal aware motor seizure HP:0020217 rdfs:label it Crisi motoria focale consapevole CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clonic seizure HP:0020221 rdfs:label it Crisi clonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypohomocysteinemia HP:0020222 rdfs:label it Ipoomocisteinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arterial rupture HP:0025019 rdfs:label it Rottura delle arterie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal erythrocyte sedimentation rate HP:0025021 rdfs:label it Anomalia della velocità di sedimentazione degli eritrociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Basal ganglia edema HP:0025039 rdfs:label it Edema dei gangli basali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lung abscess HP:0025044 rdfs:label it Ascesso polmonare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced brain creatine level by MRS HP:0025051 rdfs:label it Riduzione del livello di creatina cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased mean corpuscular volume HP:0025066 rdfs:label it Diminuzione del volume corpuscolare medio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Folliculitis HP:0025084 rdfs:label it Follicolite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epidermal acanthosis HP:0025092 rdfs:label it Acantosi epidermica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Eyelid myoclonus HP:0025097 rdfs:label it Mioclono palpebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dysgenesis of the hippocampus HP:0025101 rdfs:label it Disgenesia dell'ippocampo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypergranulosis HP:0025114 rdfs:label it Ipergranulosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Fetal distress HP:0025116 rdfs:label it Distress fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoautofluorescent retinal lesion HP:0025159 rdfs:label it Lesione retinica ipoautofluorescente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal temper tantrums HP:0025160 rdfs:label it Irritazione anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Frequent temper tantrums HP:0025161 rdfs:label it Frequenti scatti d'ira CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe temper tantrums HP:0025162 rdfs:label it Gravi scatti d'ira CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left ventricular diastolic dysfunction HP:0025168 rdfs:label it Disfunzione diastolica del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left ventricular systolic dysfunction HP:0025169 rdfs:label it Disfunzione sistolica ventricolare sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ground-glass opacification HP:0025179 rdfs:label it Opacità a vetro smerigliato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bilateral tonic-clonic seizure with generalized onset HP:0025190 rdfs:label it Crisi tonico-clonica bilaterale con esordio generalizzato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Posterolateral diaphragmatic hernia HP:0025193 rdfs:label it Ernia diaframmatica posterolaterale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bursitis HP:0025232 rdfs:label it Borsite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Parasomnia HP:0025234 rdfs:label it Parasonnia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en NREM parasomnia HP:0025235 rdfs:label it Parasonnia NREM CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stiff neck HP:0025258 rdfs:label it Collo rigido CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stuttering HP:0025268 rdfs:label it Balbuzie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cold-induced sweating HP:0025278 rdfs:label it Sudorazione indotta dal freddo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cervical lymphadenopathy HP:0025289 rdfs:label it Linfoadenopatia cervicale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Malar rash HP:0025300 rdfs:label it Rash malare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Copper accumulation in liver HP:0025321 rdfs:label it Accumulo di rame nel fegato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-glutamic acid decarboxylase antibody positivity HP:0025329 rdfs:label it Positività degli anticorpi anti-decarbossilasi dell'acido glutammico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upgaze palsy HP:0025331 rdfs:label it Paralisi dello sguardo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed ability to stand HP:0025335 rdfs:label it Ritardata acquisizione della capacità di stare in piedi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Delayed ability to sit HP:0025336 rdfs:label it Ritardo nella capacità di sedersi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lupus anticoagulant HP:0025343 rdfs:label it Lupus anticoagulante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Interictal EEG abnormality HP:0025373 rdfs:label it Anomalia EEG interictale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-thyroid peroxidase antibody positivity HP:0025379 rdfs:label it Positività degli anticorpi anti-perossidasi tiroidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dorsocervical fat pad HP:0025383 rdfs:label it Cuscinetto adiposo dorsocervicale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pill-rolling tremor HP:0025387 rdfs:label it Tremore di rotolamento del pilastro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thyroid nodule HP:0025388 rdfs:label it Nodulo della tiroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Staring gaze HP:0025401 rdfs:label it Sguardo fisso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stooped posture HP:0025403 rdfs:label it Postura chinata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal visual fixation HP:0025404 rdfs:label it Fissazione visiva anomala OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Visual fixation instability HP:0025405 rdfs:label it Instabilità della fissazione visiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Asthenia HP:0025406 rdfs:label it Astenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary pneumatocele HP:0025419 rdfs:label it Pneumatocele polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating lactate dehydrogenase concentration HP:0025435 rdfs:label it Aumento della concentrazione circolante di lattato deidrogenasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Achilles tendon calcification HP:0025441 rdfs:label it Calcificazione del tendine d'Achille CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pyoderma gangrenosum HP:0025452 rdfs:label it Pioderma gangrenoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased CSF 5-hydroxyindolacetic acid concentration HP:0025455 rdfs:label it Diminuzione della concentrazione di acido 5-idrossiindolacetico nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overweight HP:0025502 rdfs:label it Sovrappeso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Piezogenic pedal papules HP:0025509 rdfs:label it Papule pedali piezogene CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic hippocampus HP:0025517 rdfs:label it Ippocampo ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Annular cutaneous lesion HP:0025528 rdfs:label it Lesione cutanea anulare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mild myopia HP:0025573 rdfs:label it Lieve miopia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tarlov cyst HP:0025643 rdfs:label it Cisti di Tarlov CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chiari type II malformation HP:0025660 rdfs:label it Malformazione di Chiari di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Moderate to late preterm birth HP:0025664 rdfs:label it Nascita pretermine da moderata a tardiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fetal pericardial effusion HP:0025671 rdfs:label it Versamento pericardico fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fetal chylothorax HP:0025677 rdfs:label it Chilotorace fetale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pituitary macroadenoma HP:0025693 rdfs:label it Macroadenoma ipofisario OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anhydramnios HP:0025700 rdfs:label it Anidramnios CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent fetal nasal bone HP:0025706 rdfs:label it Osso nasale fetale assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Caseous vernix-like desquamation HP:0025724 rdfs:label it Desquamazione caseosa simile a vernix CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cervical agenesis HP:0030008 rdfs:label it Agenesia cervicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Imperforate hymen HP:0030011 rdfs:label it Imene imperforato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Question mark ear HP:0030022 rdfs:label it Orecchio a forma di punto interrogativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Auricular pit HP:0030025 rdfs:label it Fossa auricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip subluxation HP:0030043 rdfs:label it Sublussazione dell'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Colpocephaly HP:0030048 rdfs:label it Colpocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tip-toe gait HP:0030051 rdfs:label it Andatura in punta di piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inguinal freckling HP:0030052 rdfs:label it Lentiggine inguinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Stiff skin HP:0030053 rdfs:label it Pelle rigida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Autoimmune antibody positivity HP:0030057 rdfs:label it Positività degli anticorpi autoimmuni OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mitochondrial depletion HP:0030059 rdfs:label it Deplezione mitocondriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Punctate periventricular T2 hyperintense foci HP:0030081 rdfs:label it Focolai periventricolari punteggiati iperintensi in T2 CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clinodactyly HP:0030084 rdfs:label it Clinodattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating testosterone concentration HP:0030087 rdfs:label it Concentrazione anormale di testosterone in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced muscle collagen VI HP:0030095 rdfs:label it Collagene VI muscolare ridotto CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced muscle fiber alpha dystroglycan HP:0030099 rdfs:label it Riduzione del distroglicano alfa delle fibre muscolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Endometriosis HP:0030127 rdfs:label it Endometriosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Truncal titubation HP:0030147 rdfs:label it Titubazione troncale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Heart murmur HP:0030148 rdfs:label it Soffio al cuore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cardiogenic shock HP:0030149 rdfs:label it Shock cardiogeno OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Antimitochondrial antibody positivity HP:0030167 rdfs:label it Positività degli anticorpi antimitocondriali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastric varix HP:0030169 rdfs:label it Variante gastrica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of peripheral nervous system electrophysiology HP:0030177 rdfs:label it Anomalia dell'elettrofisiologia del sistema nervoso periferico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Oppenheim reflex HP:0030180 rdfs:label it Riflesso di Oppenheim CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gordon reflex HP:0030181 rdfs:label it Riflesso di Gordon CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Kinetic tremor HP:0030186 rdfs:label it Tremore cinetico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Titubation HP:0030187 rdfs:label it Titubazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-acetylcholine receptor antibody positivity HP:0030208 rdfs:label it Positività agli anticorpi del recettore anti-acetilcolina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-muscle-specific tyrosine kinase antibody HP:0030210 rdfs:label it Anticorpo anti tirosin-chinasi muscolo-specifico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Collectionism HP:0030212 rdfs:label it Collezionismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypersexuality HP:0030214 rdfs:label it Ipersessualità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inappropriate crying HP:0030215 rdfs:label it Pianto inappropriato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central core regions in muscle fibers HP:0030230 rdfs:label it "Regioni ""central core"" nelle fibre muscolari" CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Highly elevated creatine kinase HP:0030234 rdfs:label it Creatina chinasi molto elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of muscle size HP:0030236 rdfs:label it Anomalia delle dimensioni dei muscoli CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hand muscle weakness HP:0030237 rdfs:label it Debolezza dei muscoli della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoplasia of deltoid muscle HP:0030241 rdfs:label it Ipoplasia del muscolo deltoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Large intestinal polyposis HP:0030255 rdfs:label it Poliposi intestinale di grandi dimensioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated red cell adenosine deaminase activity HP:0030270 rdfs:label it Elevata attività dell'adenosina deaminasi dei globuli rossi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced red cell adenosine deaminase level HP:0030273 rdfs:label it Ridotto livello di adenosina deaminasi dei globuli rossi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Papule HP:0200034 rdfs:label it Papula OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Paralytic ileus HP:0002590 rdfs:label it Ileo paralitico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Paraparesis HP:0002385 rdfs:label it Paraparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Parasomnia HP:0025234 rdfs:label it Parasonnia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Paresthesia HP:0003401 rdfs:label it Parestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Parietal bossing HP:0000242 rdfs:label it Bordo parietale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Parietal cortical atrophy HP:0012104 rdfs:label it Atrofia corticale parietale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Parietal foramina HP:0002697 rdfs:label it Foramina parietale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Parkinsonism HP:0001300 rdfs:label it Parkinsonismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Parkinsonism with favorable response to dopaminergic medication HP:0002548 rdfs:label it Parkinsonismo con risposta favorevole ai farmaci dopaminergici OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Parotitis HP:0011850 rdfs:label it Parotite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Paroxysmal atrial fibrillation HP:0004757 rdfs:label it Fibrillazione atriale parossistica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Paroxysmal atrial tachycardia HP:0006671 rdfs:label it Tachicardia atriale parossistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Paroxysmal dyskinesia HP:0007166 rdfs:label it Discinesia parossistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Paroxysmal vertigo HP:0010532 rdfs:label it Vertigine parossistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial absence of cerebellar vermis HP:0002951 rdfs:label it Assenza parziale del verme cerebellare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine HP:0410305 rdfs:label it Assenza parziale di risposta anticorpale specifica al vaccino Haemophilus influenzae tipo b (Hib) CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial absence of specific antibody response to tetanus vaccine HP:0410297 rdfs:label it Parziale assenza di risposta anticorpale specifica al vaccino antitetanico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial absence of specific antibody response to unconjugated pneumococcus vaccine HP:0410301 rdfs:label it Parziale assenza di risposta anticorpale specifica al vaccino anti-pneumococco non coniugato CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Partial absence of the septum pellucidum HP:0030283 rdfs:label it Assenza parziale del setto pellucido CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Agenesis of the anterior commissure HP:0030302 rdfs:label it Agenesia della commissura anteriore OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoplastic anterior commissure HP:0030303 rdfs:label it Commissura anteriore ipoplasica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Angular cheilitis HP:0030318 rdfs:label it Cheilite angolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Weakness of facial musculature HP:0030319 rdfs:label it Debolezza della muscolatura facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased intervertebral space HP:0030320 rdfs:label it Spazio intervertebrale aumentato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinal thinning HP:0030329 rdfs:label it Assottigliamento della retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating follicle stimulating hormone concentration HP:0030341 rdfs:label it Diminuzione della concentrazione di ormone follicolo-stimolante circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating luteinizing hormone level HP:0030344 rdfs:label it Diminuzione del livello di ormone luteinizzante circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating luteinizing hormone concentration HP:0030345 rdfs:label it Concentrazione anormale di ormone luteinizzante circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal circulating follicle-stimulating hormone concentration HP:0030346 rdfs:label it Concentrazione anormale di ormone follicolo-stimolante circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Erythematous papule HP:0030350 rdfs:label it Papula eritematosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal serum insulin-like growth factor 1 level HP:0030352 rdfs:label it Livello anomalo di fattore di crescita 1 insulino-simile nel siero CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating interferon-gamma concentration HP:0030356 rdfs:label it Aumentata concentrazione di interferone gamma circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Finger hyperphalangy HP:0030367 rdfs:label it Iperfalangia delle dita della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased proportion of memory B cells HP:0030374 rdfs:label it Ridotta proporzione di cellule B della memoria OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased proportion of transitional B cells HP:0030381 rdfs:label it Aumentata proporzione di cellule B transizionali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased proportion of class-switched memory B cells HP:0030388 rdfs:label it Diminuzione della proporzione di cellule B di memoria commutate per classe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal platelet aggregation HP:0030402 rdfs:label it Aggregazione piastrinica anomala CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Squamous cell carcinoma of the vulva HP:0030417 rdfs:label it Carcinoma a cellule squamose della vulva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Splenic cyst HP:0030423 rdfs:label it Cisti splenica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fibrofolliculoma HP:0030436 rdfs:label it Fibrofollicoloma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Choriocapillaris atrophy HP:0030491 rdfs:label it Atrofia della coriocapillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bradyopsia HP:0030511 rdfs:label it Bradiopsia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Difficulty adjusting to changes in luminance HP:0030512 rdfs:label it Difficoltà di adattamento ai cambiamenti di luminanza CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Moderately reduced visual acuity HP:0030515 rdfs:label it Acutezza visiva moderatamente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Very severe constriction of peripheral visual field HP:0030527 rdfs:label it Costrizione molto grave del campo visivo periferico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial agenesis of the corpus callosum HP:0001338 rdfs:label it Agenesia parziale del corpo calloso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial albinism HP:0007443 rdfs:label it Albinismo parziale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Partial anomalous pulmonary venous return HP:0010773 rdfs:label it Ritorno venoso polmonare anomalo parziale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial atrioventricular canal defect HP:0011577 rdfs:label it Difetto parziale del canale atrioventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Partial duplication of thumb phalanx HP:0009944 rdfs:label it Duplicazione parziale della falange del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patellar aplasia HP:0006443 rdfs:label it Aplasia rotulea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patellar dislocation HP:0002999 rdfs:label it Lussazione della rotula CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patellar hypoplasia HP:0003065 rdfs:label it Ipoplasia rotulea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patellar subluxation HP:0010499 rdfs:label it Sublussazione rotulea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patent ductus arteriosus HP:0001643 rdfs:label it Brevetto del dotto arterioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patent ductus arteriosus after birth at term HP:0011648 rdfs:label it Brevetto del dotto arterioso dopo la nascita a termine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Patent foramen ovale HP:0001655 rdfs:label it Brevetto del forame ovale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pear-shaped nose HP:0000447 rdfs:label it Naso a pera OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pear-shaped vertebrae HP:0004566 rdfs:label it Vertebre a forma di pera CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pectus carinatum HP:0000768 rdfs:label it Pectus carinatum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pectus excavatum HP:0000767 rdfs:label it Pectus excavatum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pectus excavatum of inferior sternum HP:0000915 rdfs:label it Pectus excavatum dello sterno inferiore CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pelvic girdle muscle weakness HP:0003749 rdfs:label it Debolezza dei muscoli del cingolo pelvico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pelvic kidney HP:0000125 rdfs:label it Rene pelvico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pelvic organ prolapse HP:0031607 rdfs:label it Prolasso dell'organo pelvico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pendular nystagmus HP:0012043 rdfs:label it Nistagmo pendolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Penoscrotal transposition HP:0100600 rdfs:label it Trasposizione penoscrotale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Percussion-induced rapid rolling muscle contractions HP:0003760 rdfs:label it Contrazioni muscolari rapide da rotolamento indotte da percussione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Perianal abscess HP:0009789 rdfs:label it Ascesso perianale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Periauricular skin pits HP:0100277 rdfs:label it Fosse cutanee periauricolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pericardial effusion HP:0001698 rdfs:label it Versamento pericardico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pericarditis HP:0001701 rdfs:label it Pericardite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Perifollicular fibroma HP:0032225 rdfs:label it Fibroma perifollicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Perifoveal ring of hyperautofluorescence HP:0030629 rdfs:label it Anello perifoveale di iperautofluorescenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Beevor's sign HP:0030664 rdfs:label it Segno di Beevor OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Left ventricular noncompaction HP:0030682 rdfs:label it Non compattazione del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased adiponectin level HP:0030685 rdfs:label it Ridotti livelli di adiponectina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Right atrial enlargement HP:0030718 rdfs:label it Ingrossamento dell'atrio destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Central nervous system cyst HP:0030724 rdfs:label it Cisti del sistema nervoso centrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilatation of the ductus arteriosus HP:0030745 rdfs:label it Dilatazione del dotto arterioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Intraventricular hemorrhage HP:0030746 rdfs:label it Emorragia intraventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Preterm intraventricular hemorrhage HP:0030747 rdfs:label it Emorragia intraventricolare pretermine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tooth abscess HP:0030757 rdfs:label it Ascesso del dente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sleep terror HP:0030765 rdfs:label it Terrore del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating free fatty acid level HP:0030781 rdfs:label it Aumento del livello di acidi grassi liberi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating interleukin 6 concentration HP:0030783 rdfs:label it Aumento della concentrazione di interleuchina 6 circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anomic aphasia HP:0030784 rdfs:label it Afasia anomica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Photopsia HP:0030786 rdfs:label it Fotopsia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased C-peptide level HP:0030796 rdfs:label it Aumento del livello di C-peptide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scaphocephaly HP:0030799 rdfs:label it Scafocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gingival recession HP:0030816 rdfs:label it Recessione gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hooded eyelid HP:0030820 rdfs:label it Palpebra a cappuccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder pain HP:0030834 rdfs:label it Dolore alla spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip pain HP:0030838 rdfs:label it Dolore all'anca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Knee pain HP:0030839 rdfs:label it Dolore al ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ankle pain HP:0030840 rdfs:label it Dolore alla caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scleral staphyloma HP:0030854 rdfs:label it Stafiloma sclerale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nasal flaring HP:0030863 rdfs:label it Svasatura nasale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of pulmonary circulation HP:0030875 rdfs:label it Anomalie della circolazione polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced FEV1/FVC ratio HP:0030877 rdfs:label it Rapporto FEV1/FVC ridotto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Raynaud phenomenon HP:0030880 rdfs:label it Fenomeno di Raynaud CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperintensity of cerebral white matter on MRI HP:0030890 rdfs:label it Iperintensità della sostanza bianca cerebrale alla RMN CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Perimembranous ventricular septal defect HP:0011682 rdfs:label it Difetto del setto ventricolare perimembranoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Periodontitis HP:0000704 rdfs:label it Parodontite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Periorbital edema HP:0100539 rdfs:label it Edema periorbitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Periorbital fullness HP:0000629 rdfs:label it Pienezza periorbitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peripapillary atrophy HP:0500087 rdfs:label it Atrofia peripapillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peripheral axonal neuropathy HP:0003477 rdfs:label it Neuropatia assonale periferica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peripheral demyelination HP:0011096 rdfs:label it Demielinizzazione periferica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peripheral neuropathy HP:0009830 rdfs:label it Neuropatia periferica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peripheral pulmonary artery stenosis HP:0004969 rdfs:label it Stenosi periferica dell'arteria polmonare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Peripheral visual field loss HP:0007994 rdfs:label it Perdita del campo visivo periferico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Periportal fibrosis HP:0001405 rdfs:label it Fibrosi periportale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Perisylvian polymicrogyria HP:0012650 rdfs:label it Polimicrogiria perisilviana CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peritonitis HP:0002586 rdfs:label it Peritonite OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Periventricular cysts HP:0007109 rdfs:label it Cisti periventricolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Periventricular leukomalacia HP:0006970 rdfs:label it Leucomalacia periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Periventricular nodular heterotopia HP:0032388 rdfs:label it Eterotopia nodulare periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Periventricular white matter hyperintensities HP:0030891 rdfs:label it Iperintensità della sostanza bianca periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palmomental reflex HP:0030902 rdfs:label it Riflesso palmomentale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Grasp reflex HP:0030903 rdfs:label it Riflesso di prensione palmare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Glabellar reflex HP:0030904 rdfs:label it Riflesso glabellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebellar edema HP:0030915 rdfs:label it Edema cerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Palpebral thickening HP:0030939 rdfs:label it Ispessimento palpebrale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated gamma-glutamyltransferase level HP:0030948 rdfs:label it Livello elevato di gamma-glutamiltransferasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microspherophakia HP:0030961 rdfs:label it Microsferofachia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal systemic blood pressure HP:0030972 rdfs:label it Pressione arteriosa sistemica anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal factor VIII activity HP:0030976 rdfs:label it Attività anormale del fattore VIII OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Sclerosing cholangitis HP:0030991 rdfs:label it Colangite sclerosante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Acroparesthesia HP:0031006 rdfs:label it Acroparestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arteria lusoria HP:0031014 rdfs:label it Arteria lusoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bone marrow hypercellularity HP:0031020 rdfs:label it Ipercellularità del midollo osseo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Internal notch of the femoral head HP:0031027 rdfs:label it Intaglio interno della testa del femore CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impaired urinary acidification HP:0031033 rdfs:label it Acidificazione urinaria alterata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impairment of activities of daily living HP:0031058 rdfs:label it Compromissione delle attività della vita quotidiana OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased thyroid-stimulating hormone level HP:0031098 rdfs:label it Diminuzione del livello di ormone stimolante la tiroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased cirrculating antimullerian hormone circulation HP:0031103 rdfs:label it Ridotta concentrazione di ormone antimulleriano circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Recurrent gastroenteritis HP:0031123 rdfs:label it Gastroenterite ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cor triatrium sinister HP:0031134 rdfs:label it Cor triatrium sinister CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Triggered by physical trauma HP:0031135 rdfs:label it Scatenato da un trauma fisico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased hepatic echogenicity HP:0031141 rdfs:label it Aumento dell'ecogenicità epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Starry sky appearance on hepatic sonography HP:0031145 rdfs:label it "Aspetto ""a cielo stellato"" del fegato all'ecografia" OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Widened atrophic scar HP:0031158 rdfs:label it Cicatrice atrofica allargata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myelokathexis HP:0031160 rdfs:label it Mielocatessi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Multifocal seizures HP:0031165 rdfs:label it Crisi multifocali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Finger flexor weakness HP:0031177 rdfs:label it Debolezza dei flessori delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating NT-proBNP concentration HP:0031185 rdfs:label it Aumento della concentrazione di NT-proBNP circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Superficial dermal perivascular inflammatory infiltrate HP:0031190 rdfs:label it Infiltrato infiammatorio superficiale dermico perivascolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Deep dermal perivascular inflammatory infiltrate HP:0031191 rdfs:label it Infiltrato infiammatorio perivascolare dermico profondo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Inappropriate antidiuretic hormone secretion HP:0031218 rdfs:label it Secrezione inappropriata di ormone antidiuretico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neutrophilic infiltration of the skin HP:0031234 rdfs:label it Infiltrazione neutrofila della pelle OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Internally nucleated skeletal muscle fibers HP:0031237 rdfs:label it Fibre muscolari scheletriche nucleate internamente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nonproductive cough HP:0031246 rdfs:label it Tosse non produttiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lip fissure HP:0031250 rdfs:label it Fessura labiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal subclavian artery morphology HP:0031251 rdfs:label it Morfologia anomala dell'arteria succlavia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilated left subclavian artery HP:0031252 rdfs:label it Dilatazione dell'arteria succlavia sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Podocyte foot process effacement HP:0031266 rdfs:label it Effetto del processo podocitario del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flushing HP:0031284 rdfs:label it Arrossamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cobblestone-like hyperkeratosis HP:0031288 rdfs:label it "Ipercheratosi con aspetto ""ad acciottolato""" CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cutaneous abscess HP:0031292 rdfs:label it Ascesso cutaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left atrial enlargement HP:0031295 rdfs:label it Ingrossamento dell'atrio sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Unroofed coronary sinus HP:0031297 rdfs:label it Difetto del setto interatriale tipo seno coronarico CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Myofiber disarray HP:0031318 rdfs:label it Disordine delle miofibre CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dextrotransposition of the great arteries HP:0031348 rdfs:label it Destro-trasposizione delle grandi arterie OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Sleep onset insomnia HP:0031354 rdfs:label it Difficoltà nell'addormentamento CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Maintenance insomnia HP:0031355 rdfs:label it Insonnia di mantenimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vegetative state HP:0031358 rdfs:label it Stato vegetativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutaneous sclerotic plaque HP:0031359 rdfs:label it Placca sclerotica cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ecchymosis HP:0031364 rdfs:label it Ecchimosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Small intestinal perforation HP:0031370 rdfs:label it Perforazione dell'intestino tenue OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Refractory HP:0031375 rdfs:label it Refrattaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased lymphocyte proliferation in response to mitogen HP:0031381 rdfs:label it Diminuita proliferazione dei linfociti in risposta ai mitogeni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal proportion of CD4-positive T cells HP:0031392 rdfs:label it Percentuale anomala di cellule T CD4-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal proportion of CD8-positive T cells HP:0031393 rdfs:label it Proporzione anomala di cellule T CD8-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced antigen-specific T cell proliferation HP:0031402 rdfs:label it Ridotta proliferazione delle cellule T antigene-specifiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short telomere length HP:0031413 rdfs:label it Lunghezza telomero ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating beta-C-terminal telopeptide concentration HP:0031425 rdfs:label it Aumento della concentrazione di telopeptide beta-C-terminale circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating osteocalcin level HP:0031428 rdfs:label it Aumento del livello di osteocalcina circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oligoclonal T cell expansion HP:0031430 rdfs:label it Espansione delle cellule T oligoclonali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Monotonic speech HP:0031435 rdfs:label it Monotonia della voce CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pregnancy exposure HP:0031437 rdfs:label it Esposizione alla gravidanza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Erosion of oral mucosa HP:0031446 rdfs:label it Erosione della mucosa orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Status epilepticus without prominent motor symptoms HP:0031475 rdfs:label it Stato epilettico senza sintomi motori evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Continuous spike and waves during slow sleep HP:0031491 rdfs:label it Spike e onde continue durante il sonno lento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating T4 concentration HP:0031507 rdfs:label it Diminuzione della concentrazione di T4 in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating thyroid hormone concentration HP:0031508 rdfs:label it Concentrazione anormale di ormone tiroideo in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Absent posterior alpha rhythm HP:0031518 rdfs:label it Ritmo alfa posteriore assente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased theta frequency activity in EEG HP:0031535 rdfs:label it Aumento dell'attività a frequenza theta nell'EEG CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal dermoepidermal junction morphology HP:0031538 rdfs:label it Morfologia anomala della giunzione dermoepidermica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormally low T cell receptor excision circle level HP:0031545 rdfs:label it Livelli anormalmente bassi del cerchio di escissione del recettore delle cellule T (TREC) CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cardiac conduction abnormality HP:0031546 rdfs:label it Anomalia della conduzione cardiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal QT interval HP:0031547 rdfs:label it Intervallo QT anormale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abdominal situs ambiguus HP:0031565 rdfs:label it Situs ambiguus addominale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pelvic organ prolapse HP:0031607 rdfs:label it Prolasso dell'organo pelvico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Moderate myopia HP:0031624 rdfs:label it Miopia moderata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Globus pallidus calcification HP:0031627 rdfs:label it Calcificazione del globus pallidus OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aborted sudden cardiac death HP:0031628 rdfs:label it Morte cardiaca improvvisa abortita OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired tandem gait HP:0031629 rdfs:label it Compromissione della marcia in tandem CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Subpleural honeycombing HP:0031631 rdfs:label it Alveolatura subpleurica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aortic rupture HP:0031649 rdfs:label it Rottura dell'aorta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Quadricuspid aortic valve HP:0031655 rdfs:label it Valvola aortica quadricuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Polymorphic ventricular tachycardia HP:0031677 rdfs:label it Tachicardia ventricolare polimorfa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal stool composition HP:0031685 rdfs:label it Composizione anomala delle feci CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mild hypermetropia HP:0031728 rdfs:label it Lieve ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Moderate hypermetropia HP:0031729 rdfs:label it Moderata ipermetropia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lateral rectus muscle weakness HP:0031750 rdfs:label it Debolezza del muscolo retto laterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-ganglioside antibody positivity HP:0031810 rdfs:label it Positività degli anticorpi anti-ganglioside CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Freezing of gait HP:0031825 rdfs:label it Blocco dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal reflex HP:0031826 rdfs:label it Riflesso anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peroneal muscle atrophy HP:0009049 rdfs:label it Atrofia muscolare peroneale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Persistence of hemoglobin F HP:0011904 rdfs:label it Persistenza di emoglobina F CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Persistence of primary teeth HP:0006335 rdfs:label it Persistenza dei denti primari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Persistent CMV viremia HP:0032247 rdfs:label it Viremia CMV persistente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Persistent asymmetrical tonic neck reflex HP:0032549 rdfs:label it Persistenza del riflesso tonico asimmetrico del collo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Persistent head lag HP:0032988 rdfs:label it Ritardo persistente della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Persistent left superior vena cava HP:0005301 rdfs:label it Vena cava superiore sinistra persistente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Persistent open anterior fontanelle HP:0004474 rdfs:label it Fontanella anteriore aperta persistente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pes cavus HP:0001761 rdfs:label it Pes cavus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pes planus HP:0001763 rdfs:label it Pes planus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pes valgus HP:0008081 rdfs:label it Pes valgus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Petechiae HP:0000967 rdfs:label it Petecchie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Peters anomaly HP:0000659 rdfs:label it Anomalia di Peters CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pheochromocytoma HP:0002666 rdfs:label it Feocromocitoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Phimosis HP:0001741 rdfs:label it Fimosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Phobia HP:5200232 rdfs:label it Fobia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Phonic tics HP:0100035 rdfs:label it Tic fonici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Phonophobia HP:0002183 rdfs:label it Fonofobia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Photophobia HP:0000613 rdfs:label it Fotofobia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Photopsia HP:0030786 rdfs:label it Fotopsia OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pica HP:0011856 rdfs:label it Pica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pierre-Robin sequence HP:0000201 rdfs:label it Sequenza di Pierre-Robin OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Piezogenic pedal papules HP:0025509 rdfs:label it Papule pedali piezogene CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pigmentary retinopathy HP:0000580 rdfs:label it Retinopatia pigmentaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pili torti HP:0003777 rdfs:label it Pili torti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pill-rolling tremor HP:0025387 rdfs:label it Tremore di rotolamento del pilastro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pilocytic astrocytoma HP:0033680 rdfs:label it Astrocitoma pilocitico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pineal cyst HP:0012683 rdfs:label it Cisti pineale CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Pinguecula HP:0031830 rdfs:label it Pinguecola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypometric upward saccades HP:0031833 rdfs:label it Saccadi ipometriche dirette verso l'alto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aortopulmonary collateral arteries HP:0031834 rdfs:label it Arterie collaterali aortopolmonari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sleep-wake inversion HP:0031849 rdfs:label it Inversione sonno-veglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal heart rate variability HP:0031860 rdfs:label it Variabilità anomala della frequenza cardiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bacteremia HP:0031864 rdfs:label it Batteriemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased circulating hepcidin concentration HP:0031876 rdfs:label it Ridotta concentrazione di epcidina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal LDL cholesterol concentration HP:0031886 rdfs:label it Concentrazione anormale di colesterolo LDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal HDL cholesterol concentration HP:0031888 rdfs:label it Concentrazione anomala di colesterolo HDL CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased urine urobilinogen HP:0031890 rdfs:label it Aumentati livelli di urobilinogeno nelle urine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Micrographia HP:0031908 rdfs:label it Micrografia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal cranial nerve physiology HP:0031910 rdfs:label it Fisiologia anomala dei nervi cranici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Digital ulcer HP:0031917 rdfs:label it Ulcera digitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed ability to walk HP:0031936 rdfs:label it Ritardo nella capacità di camminare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Akathisia HP:0031943 rdfs:label it Acatisia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Usual interstitial pneumonia HP:0031950 rdfs:label it Polmonite interstiziale abituale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nocturnal seizures HP:0031951 rdfs:label it Crisi epilettiche notturne CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating aspartate aminotransferase concentration HP:0031956 rdfs:label it Elevata concentrazione di aspartato aminotransferasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Leg dystonia HP:0031959 rdfs:label it Distonia delle gambe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Arm dystonia HP:0031960 rdfs:label it Distonia del braccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating alanine aminotransferase concentration HP:0031964 rdfs:label it Elevata concentrazione circolante di alanina aminotransferasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Presyncope HP:0031972 rdfs:label it Presincope OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Pituitary adenoma HP:0002893 rdfs:label it Adenoma ipofisario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pituitary macroadenoma HP:0025693 rdfs:label it Macroadenoma ipofisario OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Plagiocephaly HP:0001357 rdfs:label it Plagiocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Plantar flexion contracture HP:0008112 rdfs:label it Contrazione della flessione plantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Plantar hyperkeratosis HP:0007556 rdfs:label it Ipercheratosi plantare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Platelet anisocytosis HP:0032438 rdfs:label it Anisocitosi piastrinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Platybasia HP:0002691 rdfs:label it Platybasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Platyspondyly HP:0000926 rdfs:label it Platisiaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pleural effusion HP:0002202 rdfs:label it Versamento pleurico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pleural empyema HP:0011919 rdfs:label it Empiema pleurico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Plexiform neurofibroma HP:0009732 rdfs:label it Neurofibroma plessiforme CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pneumocystis jirovecii pneumonia HP:0020102 rdfs:label it Polmonite da Pneumocystis jirovecii CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pneumonia HP:0002090 rdfs:label it Polmonite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pneumothorax HP:0002107 rdfs:label it Pneumotorace CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Podocyte foot process effacement HP:0031266 rdfs:label it Effetto del processo podocitario del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poikilocytosis HP:0004447 rdfs:label it Poichilocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poikiloderma HP:0001029 rdfs:label it Poikiloderma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pointed chin HP:0000307 rdfs:label it Mento appuntito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pointed helix HP:0100810 rdfs:label it Elica appuntita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polyarticular arthritis HP:0005764 rdfs:label it Artrite poliarticolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Polyarticular arthropathy HP:0005195 rdfs:label it Artropatia poliarticolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Polyarticular chondrocalcinosis HP:0005017 rdfs:label it Condrocalcinosi poliarticolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polychromasia HP:0034609 rdfs:label it Policromia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polycystic kidney dysplasia HP:0000113 rdfs:label it Displasia renale policistica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polycystic ovaries HP:0000147 rdfs:label it Ovaie policistiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polydactyly HP:0010442 rdfs:label it Polidattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polydipsia HP:0001959 rdfs:label it Polidipsia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polyembolokoilamania HP:0032508 rdfs:label it Poliembolocoilamania OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Polyhydramnios HP:0001561 rdfs:label it Polidramnios CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polymicrogyria HP:0002126 rdfs:label it Polimicrogiria CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Polyminimyoclonus HP:0031986 rdfs:label it Poliminimoclono CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diminished ability to concentrate HP:0031987 rdfs:label it Diminuzione della capacità di concentrazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hoffmann sign HP:0031993 rdfs:label it Segno di Hoffmann CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Inspiratory crackles HP:0031996 rdfs:label it Crepitii inspiratori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Orange urine HP:0032002 rdfs:label it Urine arancioni OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Heterotropia HP:0032012 rdfs:label it Eterotropia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Eosinophilic dermal infiltration HP:0032022 rdfs:label it Infiltrazione cutanea eosinofila CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ileal ulcer HP:0032024 rdfs:label it Ulcera ileale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mildly reduced visual acuity HP:0032037 rdfs:label it Acutezza visiva lievemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal cortical dysplasia HP:0032046 rdfs:label it Displasia corticale focale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal cortical dysplasia type Ia HP:0032048 rdfs:label it Displasia corticale focale di tipo Ia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal cortical dysplasia type Ib HP:0032049 rdfs:label it Displasia corticale focale di tipo Ib CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal cortical dysplasia type III HP:0032054 rdfs:label it Displasia corticale focale di tipo III CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mild malformation of cortical development HP:0032059 rdfs:label it Malformazione lieve dello sviluppo corticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased serum bicarbonate concentration HP:0032066 rdfs:label it Diminuzione della concentrazione sierica di bicarbonato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-thyroglobulin antibody positivity HP:0032069 rdfs:label it Positività degli anticorpi anti-tireoglobulina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Eosinophilic pneumonia HP:0032071 rdfs:label it Polmonite eosinofila CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Male urethral meatus stenosis HP:0032077 rdfs:label it Stenosi del meato uretrale maschile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Left ventricular outflow tract obstruction HP:0032092 rdfs:label it Ostruzione del tratto di deflusso ventricolare sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Conjunctival icterus HP:0032106 rdfs:label it Ittero congiuntivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Froment sign HP:0032121 rdfs:label it Segno di Froment OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Very low visual acuity HP:0032122 rdfs:label it Acutezza visiva molto bassa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased proportion of plasmablasts HP:0032128 rdfs:label it Aumentata proporzione di plasmablasti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased circulating total IgG HP:0032132 rdfs:label it IgG totali circolanti ridotte OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Keratosis pilaris HP:0032152 rdfs:label it Cheratosi pilare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aphthous ulcer HP:0032154 rdfs:label it Ulcera aftosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Fungal meningitis HP:0032159 rdfs:label it Meningite fungina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cryptococcal meningitis HP:0032160 rdfs:label it Meningite criptococcica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Molluscum contagiosum HP:0032163 rdfs:label it Mollusco contagioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Severe varicella zoster infection HP:0032170 rdfs:label it Grave infezione da varicella zoster CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flaky paint dermatosis HP:0032178 rdfs:label it Dermatosi desquamativa della vernice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased proportion of memory T cells HP:0032183 rdfs:label it Diminuzione della percentuale di cellule T memoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal prothrombin time HP:0032199 rdfs:label it Tempo di protrombina anormale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased proportion of CD4-positive T cells HP:0032218 rdfs:label it Diminuzione della proporzione di cellule T CD4-positive CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Perifollicular fibroma HP:0032225 rdfs:label it Fibroma perifollicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cytoplasmic antineutrophil antibody positivity HP:0032230 rdfs:label it Positività degli anticorpi c-ANCA CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased circulating creatine kinase MM isoform HP:0032234 rdfs:label it Aumento dell'isoforma MM della creatinchinasi circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Persistent CMV viremia HP:0032247 rdfs:label it Viremia CMV persistente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Granuloma HP:0032252 rdfs:label it Granuloma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Histoplasmosis HP:0032256 rdfs:label it Istoplasmosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Chronic tinea infection HP:0032259 rdfs:label it Infezione cronica da tigna OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Nontuberculous mycobacterial pulmonary infection HP:0032261 rdfs:label it Infezione polmonare da micobatteri non tubercolari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Recurrent shingles HP:0032275 rdfs:label it Herpes zoster ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polymorphic ventricular tachycardia HP:0031677 rdfs:label it Tachicardia ventricolare polimorfa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polyneuropathy HP:0001271 rdfs:label it Polineuropatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polyphagia HP:0002591 rdfs:label it Polifagia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polysplenia HP:0001748 rdfs:label it Polisplenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Polyuria HP:0000103 rdfs:label it Poliuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pontocerebellar atrophy HP:0006879 rdfs:label it Atrofia pontocerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor appetite HP:0004396 rdfs:label it Scarso appetito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor coordination HP:0002370 rdfs:label it Scarsa coordinazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor fine motor coordination HP:0007010 rdfs:label it Scarsa coordinazione motoria fine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor gross motor coordination HP:0007015 rdfs:label it Scarsa coordinazione motoria lorda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor hand-eye coordination HP:0007057 rdfs:label it Scarsa coordinazione mano-occhio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor head control HP:0002421 rdfs:label it Scarso controllo della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor motor coordination HP:0002275 rdfs:label it Scarsa coordinazione motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor speech HP:0002465 rdfs:label it Linguaggio insufficiente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor suck HP:0002033 rdfs:label it Scarsa suzione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Poor wound healing HP:0001058 rdfs:label it Scarsa guarigione delle ferite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Porencephalic cyst HP:0002132 rdfs:label it Cisti porencefalica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Portal hypertension HP:0001409 rdfs:label it Ipertensione portale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Positive Mycobacterium avium sputum culture HP:0430108 rdfs:label it Coltura dell'espettorato positiva per Mycobacterium avium OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Positive Romberg sign HP:0002403 rdfs:label it Segno di Romberg positivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Postauricular skin tag HP:0004451 rdfs:label it Tag cutanea postauricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Postaxial foot polydactyly HP:0001830 rdfs:label it Polidattilia postassiale del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Postaxial hand polydactyly HP:0001162 rdfs:label it Polidattilia postassiale della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Postaxial polydactyly HP:0100259 rdfs:label it Polidattilia postassiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Posterior embryotoxon HP:0000627 rdfs:label it Embriotoxon posteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Posterior helix pit HP:0008523 rdfs:label it Fossetta cutanea nella parte posteriore dell'elice CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Posterior plagiocephaly HP:0011327 rdfs:label it Plagiocefalia posteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Posterior rib fusion HP:0000913 rdfs:label it Fusione costale posteriore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Posterior subcapsular cataract HP:0007787 rdfs:label it Cataratta sottocapsulare posteriore OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Posteriorly placed anus HP:0012890 rdfs:label it Ano posizionato posteriormente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Posteriorly rotated ears HP:0000358 rdfs:label it Orecchie ruotate posteriormente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Posterolateral diaphragmatic hernia HP:0025193 rdfs:label it Ernia diaframmatica posterolaterale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Postnatal growth retardation HP:0008897 rdfs:label it Ritardo di crescita postnatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Postural instability HP:0002172 rdfs:label it Instabilità posturale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Postural tremor HP:0002174 rdfs:label it Tremore posturale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Preauricular hair displacement HP:0009554 rdfs:label it Proiezione del cuoio capelluto verso il lato della guancia CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Preauricular pit HP:0004467 rdfs:label it Fossa preauricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Preauricular skin tag HP:0000384 rdfs:label it Placca cutanea preauricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Preaxial foot polydactyly HP:0001841 rdfs:label it Polidattilia preassiale del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Preaxial hand polydactyly HP:0001177 rdfs:label it Polidattilia preassiale della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Preaxial polydactyly HP:0100258 rdfs:label it Polidattilia preassiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Precocious atherosclerosis HP:0004416 rdfs:label it Aterosclerosi precoce CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Precocious puberty HP:0000826 rdfs:label it Pubertà precoce CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Precocious puberty in females HP:0010465 rdfs:label it Pubertà precoce nelle femmine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Precocious puberty in males HP:0008185 rdfs:label it Pubertà precoce nei maschi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pregnancy exposure HP:0031437 rdfs:label it Esposizione alla gravidanza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prelingual sensorineural hearing impairment HP:0000399 rdfs:label it Deficit uditivo neurosensoriale prelinguale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature adrenarche HP:0012412 rdfs:label it Adrenarca precoce CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature arteriosclerosis HP:0005177 rdfs:label it Arteriosclerosi precoce OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Premature atrial contractions HP:0006699 rdfs:label it Contrazioni atriali premature CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature birth HP:0001622 rdfs:label it Nascita prematura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature graying of hair HP:0002216 rdfs:label it Ingrigimento precoce dei capelli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature loss of primary teeth HP:0006323 rdfs:label it Perdita prematura dei denti primari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature ovarian insufficiency HP:0008209 rdfs:label it Insufficienza ovarica prematura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature rupture of membranes HP:0001788 rdfs:label it Rottura prematura delle membrane CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature sagging cheeks HP:0034273 rdfs:label it Guance cadenti premature CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Premature ventricular contraction HP:0006682 rdfs:label it Contrazione ventricolare prematura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prematurely aged appearance HP:0007495 rdfs:label it Aspetto precocemente invecchiato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prenatal movement abnormality HP:0001557 rdfs:label it Anomalia del movimento prenatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Presenile cataracts HP:0007819 rdfs:label it Cataratta presenile OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Presyncope HP:0031972 rdfs:label it Presincope OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Preterm intraventricular hemorrhage HP:0030747 rdfs:label it Emorragia intraventricolare pretermine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Primary adrenal insufficiency HP:0008207 rdfs:label it Insufficienza surrenalica primaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Primary amenorrhea HP:0000786 rdfs:label it Amenorrea primaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Primary hyperparathyroidism HP:0008200 rdfs:label it Iperparatiroidismo primario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Primary microcephaly HP:0011451 rdfs:label it Microcefalia primaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Primum atrial septal defect HP:0010445 rdfs:label it Difetto del setto atriale primitivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proboscis HP:0012806 rdfs:label it Proboscide OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Profound global developmental delay HP:0012736 rdfs:label it Grave ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Profound static encephalopathy HP:0007069 rdfs:label it Encefalopatia statica profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progeroid facial appearance HP:0005328 rdfs:label it Aspetto facciale progeroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive HP:0003676 rdfs:label it Progressivo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Progressive alopecia HP:0002287 rdfs:label it Alopecia progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive cerebellar ataxia HP:0002073 rdfs:label it Atassia cerebellare progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive clavicular acroosteolysis HP:0000905 rdfs:label it Acroosteolisi clavicolare progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive encephalopathy HP:0002448 rdfs:label it Encefalopatia progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive external ophthalmoplegia HP:0000590 rdfs:label it Oftalmoplegia esterna progressiva OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Progressive forgetfulness HP:0007017 rdfs:label it Dimenticanza progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive gait ataxia HP:0007240 rdfs:label it Atassia progressiva dell'andatura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive language deterioration HP:0007064 rdfs:label it Deterioramento progressivo del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive microcephaly HP:0000253 rdfs:label it Microcefalia progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive muscle weakness HP:0003323 rdfs:label it Debolezza muscolare progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive neurologic deterioration HP:0002344 rdfs:label it Deterioramento neurologico progressivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive night blindness HP:0007675 rdfs:label it Cecità notturna progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive peripheral neuropathy HP:0007133 rdfs:label it Neuropatia periferica progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive proximal muscle weakness HP:0009073 rdfs:label it Debolezza muscolare prossimale progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive psychomotor deterioration HP:0007272 rdfs:label it Progressivo deterioramento psicomotorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive pulmonary function impairment HP:0006520 rdfs:label it Compromissione progressiva della funzione polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive spasticity HP:0002191 rdfs:label it Spasticità progressiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Progressive visual field defects HP:0007987 rdfs:label it Difetti progressivi del campo visivo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Progressive visual loss HP:0000529 rdfs:label it Perdita progressiva della vista OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prolonged QT interval HP:0001657 rdfs:label it Prolungamento dell'intervallo QT CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prolonged QTc interval HP:0005184 rdfs:label it Prolungamento dell'intervallo QTc CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prolonged bleeding after dental extraction HP:0006298 rdfs:label it Sanguinamento prolungato dopo un'estrazione dentaria OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prolonged bleeding time HP:0003010 rdfs:label it Tempo di sanguinamento prolungato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prolonged neonatal jaundice HP:0006579 rdfs:label it Ittero neonatale prolungato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prolonged prothrombin time HP:0008151 rdfs:label it Tempo di protrombina prolungato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prominence of the zygomatic bone HP:0012370 rdfs:label it Prominenza dell'osso zigomatico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prominent antihelix HP:0000395 rdfs:label it Antielica prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent calcaneus HP:0012428 rdfs:label it Calcagno prominente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prominent eyelashes HP:0011231 rdfs:label it Ciglia prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent fingertip pads HP:0001212 rdfs:label it Polpastrelli delle dita evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent forehead HP:0011220 rdfs:label it Fronte sporgente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent glabella HP:0002057 rdfs:label it Glabella prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent interphalangeal joints HP:0006237 rdfs:label it Articolazioni interfalangee prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent metopic ridge HP:0005487 rdfs:label it Cresta metopica prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent nasal bridge HP:0000426 rdfs:label it Ponte nasale prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent nasal tip HP:0005274 rdfs:label it Punta nasale prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent nasolabial fold HP:0005272 rdfs:label it Piega nasolabiale prominente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prominent nipples HP:0004405 rdfs:label it Capezzoli prominenti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Prominent nose HP:0000448 rdfs:label it Naso prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent occiput HP:0000269 rdfs:label it Occipite prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent scalp veins HP:0001043 rdfs:label it Vene del cuoio capelluto evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent stem of antihelix HP:0011240 rdfs:label it Gambo prominente dell'antielica CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Prominent subcalcaneal fat pad HP:0032276 rdfs:label it Cuscinetto adiposo sottocalcaneale prominente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 2-hydroxyglutarate aciduria HP:0032278 rdfs:label it Aciduria da 2-idrossiglutarato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Disseminated nontuberculous mycobacterial infection HP:0032283 rdfs:label it Infezione disseminata da micobatteri non tubercolari OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ultra-low vision with retained light projection HP:0032285 rdfs:label it Visione ultrabassa con proiezione di luce trattenuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ultra-low vision with retained light perception HP:0032286 rdfs:label it Bassissima visione con percezione della luce conservata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ultra-low vision with no light perception HP:0032287 rdfs:label it Visione ultrabassa con assenza di percezione della luce CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating IgG2 level HP:0032299 rdfs:label it Aumentati livelli di IgG2 circolanti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Genital warts HP:0032301 rdfs:label it Verruche genitali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Sulfocysteinuria HP:0032350 rdfs:label it Sulfocisteinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acidemia HP:0032368 rdfs:label it Acidemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Periventricular nodular heterotopia HP:0032388 rdfs:label it Eterotopia nodulare periventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral perisylvian polymicrogyria HP:0032407 rdfs:label it Polimicrogiria perisilviana bilaterale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Delayed umbilical cord separation HP:0032434 rdfs:label it Ritardo nella separazione del cordone ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Neonatal omphalitis HP:0032435 rdfs:label it Oftalite neonatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating C-reactive protein concentration HP:0032436 rdfs:label it Concentrazione anormale di proteina C-reattiva circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Platelet anisocytosis HP:0032438 rdfs:label it Anisocitosi piastrinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent superficial blood vessels HP:0007394 rdfs:label it Vasi sanguigni superficiali prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent superficial veins HP:0001015 rdfs:label it Vene superficiali evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent supraorbital ridges HP:0000336 rdfs:label it Creste sopraorbitali prominenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Prominent tragus HP:0011271 rdfs:label it Trago prominente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pronoun reversal HP:4000073 rdfs:label it Inversione pronominale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Proportionate short stature HP:0003508 rdfs:label it Bassa statura proporzionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proportionate tall stature HP:0011407 rdfs:label it Alta statura proporzionata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proptosis HP:0000520 rdfs:label it Proptosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Protein-losing enteropathy HP:0002243 rdfs:label it Enteropatia da perdita di proteine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proteinuria HP:0000093 rdfs:label it Proteinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Protracted diarrhea HP:0004385 rdfs:label it Diarrea prolungata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Protruding ear HP:0000411 rdfs:label it Orecchio sporgente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Protruding tongue HP:0010808 rdfs:label it Lingua protrudente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Protrusio acetabuli HP:0003179 rdfs:label it Protrusio acetabuli CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal amyotrophy HP:0007126 rdfs:label it Amiotrofia prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal lower limb amyotrophy HP:0008956 rdfs:label it Amiotrofia prossimale dell'arto inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal muscle weakness HP:0003701 rdfs:label it Debolezza muscolare prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal muscle weakness in lower limbs HP:0008994 rdfs:label it Debolezza muscolare prossimale degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal muscle weakness in upper limbs HP:0008997 rdfs:label it Debolezza muscolare prossimale degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal placement of thumb HP:0009623 rdfs:label it Posizione prossimale del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal spinal muscular atrophy HP:0006959 rdfs:label it Atrofia muscolare spinale prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Proximal upper limb amyotrophy HP:0008948 rdfs:label it Amiotrofia dell'arto superiore prossimale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pruritus HP:0000989 rdfs:label it Prurito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pseudobulbar affect HP:0002193 rdfs:label it Affetto pseudobulbare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pseudoepiphyses of hand bones HP:0004288 rdfs:label it Pseudoepifisi delle ossa della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Psoriasiform dermatitis HP:0003765 rdfs:label it Dermatite psoriasiforme CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Psychomotor deterioration HP:0002361 rdfs:label it Deterioramento psicomotorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Psychosis HP:0000709 rdfs:label it Psicosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Psychotic episodes HP:0000725 rdfs:label it Episodi psicotici CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pterygium HP:0001059 rdfs:label it Pterygium CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ptosis HP:0000508 rdfs:label it Ptosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary arterial hypertension HP:0002092 rdfs:label it Ipertensione arteriosa polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary artery aneurysm HP:0004937 rdfs:label it Aneurisma dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary artery atresia HP:0004935 rdfs:label it Atresia dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary artery dilatation HP:0004927 rdfs:label it Dilatazione dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary artery hypoplasia HP:0004971 rdfs:label it Ipoplasia dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary artery stenosis HP:0004415 rdfs:label it Stenosi dell'arteria polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary bulla HP:0032446 rdfs:label it Bolla polmonare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pulmonary capillary hemangiomatosis HP:0005954 rdfs:label it Emangiomatosi capillare polmonare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Pulmonary cyst HP:0032445 rdfs:label it Cisti polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pulmonary bulla HP:0032446 rdfs:label it Bolla polmonare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Oral melanotic macule HP:0032451 rdfs:label it Maculo melanotico orale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Labial melanotic macule HP:0032454 rdfs:label it Macula melanotica labiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced granulocyte CD18 level HP:0032455 rdfs:label it Riduzione del livello del CD18 dei granulociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Narrowing of medullary canal HP:0032458 rdfs:label it Restringimento del canale midollare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Aplasia of the olfactory bulb HP:0032466 rdfs:label it Aplasia del bulbo olfattivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated fecal sodium HP:0032484 rdfs:label it Sodio fecale elevato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary fibrosis HP:0002206 rdfs:label it Fibrosi polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary hypoplasia HP:0002089 rdfs:label it Ipoplasia polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary infiltrates HP:0002113 rdfs:label it Infiltrazioni polmonari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary lymphangiomyomatosis HP:0012798 rdfs:label it Linfangiomiomatosi polmonare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pulmonary nodule HP:0033608 rdfs:label it Nodulo polmonare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pulmonary pneumatocele HP:0025419 rdfs:label it Pneumatocele polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonary valve atresia HP:0010882 rdfs:label it Atresia della valvola polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pulmonic stenosis HP:0001642 rdfs:label it Stenosi polmonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Punctate palmoplantar hyperkeratosis HP:0007530 rdfs:label it Ipercheratosi palmoplantare punteggiata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Punctate periventricular T2 hyperintense foci HP:0030081 rdfs:label it Focolai periventricolari punteggiati iperintensi in T2 CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Purpura HP:0000979 rdfs:label it Porpora CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pursed lips HP:0000205 rdfs:label it Labbra serrate CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pustular rash HP:0033605 rdfs:label it Eruzione cutanea pustolosa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Pyelonephritis HP:0012330 rdfs:label it Pielonefrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pyloric stenosis HP:0002021 rdfs:label it Stenosi pilorica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pyoderma gangrenosum HP:0025452 rdfs:label it Pioderma gangrenoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Pyuria HP:0012085 rdfs:label it Piuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Quadricuspid aortic valve HP:0031655 rdfs:label it Valvola aortica quadricuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Question mark ear HP:0030022 rdfs:label it Orecchio a forma di punto interrogativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rachitic rosary HP:0000897 rdfs:label it Rosario rachitico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Radial bowing HP:0002986 rdfs:label it Arcuatura radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Radial deviation of the hand HP:0009486 rdfs:label it Deviazione radiale della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Radial head subluxation HP:0003048 rdfs:label it Sublussazione della testa radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Radioulnar subluxation HP:6000506 rdfs:label it Sublussazione radio-ulnare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Radioulnar synostosis HP:0002974 rdfs:label it Sinostosi radioulnare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ragged-red muscle fibers HP:0003200 rdfs:label it Fibre muscolari di colore rosso stracciato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Raynaud phenomenon HP:0030880 rdfs:label it Fenomeno di Raynaud CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Receptive language delay HP:0010863 rdfs:label it Ritardo del linguaggio ricettivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rectal prolapse HP:0002035 rdfs:label it Prolasso rettale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rectocele HP:0100822 rdfs:label it Rettocele OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Rectovaginal fistula HP:0000143 rdfs:label it Fistola retto-vaginale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent Staphylococcus aureus infections HP:0002726 rdfs:label it Infezioni ricorrenti da Staphylococcus aureus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent abscess formation HP:0002722 rdfs:label it Formazione di ascessi ricorrenti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent aphthous stomatitis HP:0011107 rdfs:label it Stomatite aftosa ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent bacterial infections HP:0002718 rdfs:label it Infezioni batteriche ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent bacterial skin infections HP:0005406 rdfs:label it Infezioni batteriche ricorrenti della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent bronchitis HP:0002837 rdfs:label it Bronchite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent bronchopulmonary infections HP:0006538 rdfs:label it Infezioni broncopolmonari ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent cutaneous abscess formation HP:0100838 rdfs:label it Formazione di ascessi cutanei ricorrenti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent cystitis HP:0012786 rdfs:label it Cistite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent ear infections HP:0410018 rdfs:label it Infezioni ricorrenti dell'orecchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent fever HP:0001954 rdfs:label it Febbre ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent fractures HP:0002757 rdfs:label it Fratture ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent fungal infections HP:0002841 rdfs:label it Infezioni fungine ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent gastroenteritis HP:0031123 rdfs:label it Gastroenterite ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent gingivitis HP:0034284 rdfs:label it Gengivite ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent hand flapping HP:0100023 rdfs:label it Sbandamento ricorrente delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent herpes HP:0005353 rdfs:label it Herpes ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent hypoglycemia HP:0001988 rdfs:label it Ipoglicemia ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent infections HP:0002719 rdfs:label it Infezioni ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent lower respiratory tract infections HP:0002783 rdfs:label it Infezioni ricorrenti del tratto respiratorio inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent mycobacterial infections HP:0011274 rdfs:label it Infezioni micobatteriche ricorrenti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent oral herpes HP:0410028 rdfs:label it Herpes orale ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent otitis media HP:0000403 rdfs:label it Otite media ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent patellar dislocation HP:0005001 rdfs:label it Lussazione rotulea ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent pneumonia HP:0006532 rdfs:label it Polmonite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent respiratory infections HP:0002205 rdfs:label it Infezioni respiratorie ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent shingles HP:0032275 rdfs:label it Herpes zoster ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent singultus HP:0100247 rdfs:label it Singulto ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent sinusitis HP:0011108 rdfs:label it Sinusite ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent skin infections HP:0001581 rdfs:label it Infezioni cutanee ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent subcortical infarcts HP:0007236 rdfs:label it Infarti sottocorticali ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent thrombophlebitis HP:0004419 rdfs:label it Tromboflebite ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent tonsillitis HP:0011110 rdfs:label it Tonsillite ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Recurrent upper respiratory tract infections HP:0002788 rdfs:label it Infezioni ricorrenti del tratto respiratorio superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent urinary tract infections HP:0000010 rdfs:label it Infezioni ricorrenti del tratto urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent viral infections HP:0004429 rdfs:label it Infezioni virali ricorrenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Recurrent vulvovaginal candidiasis HP:0012204 rdfs:label it Candidosi vulvovaginale ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Red hair HP:0002297 rdfs:label it Capelli rossi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Red urine HP:0040318 rdfs:label it Urine rosse OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts HP:6000199 rdfs:label it Ridotta attività della 3-beta-idrossisteroide-delta-5-desaturasi in fibroblasti in coltura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced FEV1/FVC ratio HP:0030877 rdfs:label it Rapporto FEV1/FVC ridotto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced antigen-specific T cell proliferation HP:0031402 rdfs:label it Ridotta proliferazione delle cellule T antigene-specifiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced antithrombin III activity HP:0001976 rdfs:label it Ridotta attività dell'antitrombina III CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced antral follicle count HP:0033085 rdfs:label it Ridotto numero di follicoli antrali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced bone mineral density HP:0004349 rdfs:label it Ridotta densità minerale ossea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced brain N-acetyl aspartate level by MRS HP:0012708 rdfs:label it Ridotto livello di N-acetil aspartato cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced brain creatine level by MRS HP:0025051 rdfs:label it Riduzione del livello di creatina cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced cerebral white matter volume HP:0034295 rdfs:label it Riduzione del volume della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label it Ridotta concentrazione di NT-proANP circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced circulating growth hormone concentration HP:0034323 rdfs:label it Ridotta concentrazione di ormone della crescita in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced circulating prolactin concentration HP:0008202 rdfs:label it Ridotta concentrazione di prolattina circolante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity HP:4000208 rdfs:label it Ridotta attività della galattosio-1-fosfato uridiltransferasi negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label it Ridotta attività dell'inosina trisosfatasi negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced erythrocyte porphobilinogen deaminase activity HP:4000199 rdfs:label it Ridotta attività della porfobilinogeno deaminasi negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced eye contact HP:0000817 rdfs:label it Riduzione del contatto visivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Reduced fecal osmolality HP:0032487 rdfs:label it Ridotta osmolalità fecale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated fecal pH HP:0032489 rdfs:label it Elevato pH fecale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Giant neutrophil granules HP:0032499 rdfs:label it Granuli giganti nei neutrofili OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Polyembolokoilamania HP:0032508 rdfs:label it Poliembolocoilamania OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Onychotillomania HP:0032509 rdfs:label it Onicotillomania OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Deep dermatophytosis HP:0032515 rdfs:label it Dermatofitosi profonda OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Reduced galactocerebrosidase activity HP:0034322 rdfs:label it Ridotta attività della galattocerebrosidasi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced granulocyte CD18 level HP:0032455 rdfs:label it Riduzione del livello del CD18 dei granulociti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced haptoglobin level HP:0020181 rdfs:label it Riduzione del livello di aptoglobina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced left ventricular ejection fraction HP:0012664 rdfs:label it Riduzione della frazione di eiezione ventricolare sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced muscle collagen VI HP:0030095 rdfs:label it Collagene VI muscolare ridotto CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced muscle fiber alpha dystroglycan HP:0030099 rdfs:label it Riduzione del distroglicano alfa delle fibre muscolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced natural killer cell activity HP:0012178 rdfs:label it Ridotta attività delle cellule natural killer OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced natural killer cell count HP:0040218 rdfs:label it Riduzione della conta delle cellule natural killer CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced progressive sperm motility HP:0034011 rdfs:label it Ridotta motilità progressiva degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced protein S activity HP:0004855 rdfs:label it Ridotta attività della proteina S CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced red cell adenosine deaminase level HP:0030273 rdfs:label it Ridotto livello di adenosina deaminasi dei globuli rossi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced renal corticomedullary differentiation HP:0005565 rdfs:label it Ridotta differenziazione cortico-midollare renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced social reciprocity HP:0012760 rdfs:label it Ridotta reciprocità sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced sperm motility HP:0012207 rdfs:label it Ridotta motilità degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reduced subcutaneous adipose tissue HP:0003758 rdfs:label it Riduzione del tessuto adiposo sottocutaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced tendon reflexes HP:0001315 rdfs:label it Riduzione dei riflessi tendinei CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced upper to lower segment ratio HP:0012773 rdfs:label it Riduzione del rapporto tra segmento superiore e inferiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced visual acuity HP:0007663 rdfs:label it Riduzione dell'acuità visiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced vital capacity HP:0002792 rdfs:label it Riduzione della capacità vitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reduced von Willebrand factor activity HP:0008330 rdfs:label it Ridotta attività del fattore von Willebrand OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Redundant neck skin HP:0005989 rdfs:label it Pelle del collo ridondante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Redundant skin HP:0001582 rdfs:label it Pelle ridondante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Refractory HP:0031375 rdfs:label it Refrattaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Relative macrocephaly HP:0004482 rdfs:label it Macrocefalia relativa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Remnants of the hyaloid vascular system HP:0007968 rdfs:label it Resti del sistema vascolare ialoideo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal agenesis HP:0000104 rdfs:label it Agenesia renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal angiomyolipoma HP:0006772 rdfs:label it Angiomiolipoma renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal artery stenosis HP:0001920 rdfs:label it Stenosi dell'arteria renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal calcium wasting HP:0012637 rdfs:label it Deperimento renale di calcio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal cortical hyperechogenicity HP:0033132 rdfs:label it Iperecogenicità della corticale renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal corticomedullary cysts HP:0000108 rdfs:label it Cisti renali cortico-midollari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal cyst HP:0000107 rdfs:label it Cisti renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal duplication HP:0000075 rdfs:label it Duplicazione renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal dysplasia HP:0000110 rdfs:label it Displasia renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal hypoplasia HP:0000089 rdfs:label it Ipoplasia renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal insufficiency HP:0000083 rdfs:label it Insufficienza renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal interstitial fibrosis HP:0032948 rdfs:label it Fibrosi interstiziale renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal interstitial foam cells HP:0032582 rdfs:label it Cellule schiumose interstiziali renali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal magnesium wasting HP:0005567 rdfs:label it Deperimento renale di magnesio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal malrotation HP:0004712 rdfs:label it Malrotazione renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal phosphate wasting HP:0000117 rdfs:label it Perdita renale di fosfati OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal salt wasting HP:0000127 rdfs:label it Deperimento renale di sale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Renal sodium wasting HP:0012606 rdfs:label it Perdita renale di sodio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal tubular acidosis HP:0001947 rdfs:label it Acidosi tubulare renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Renal tubular atrophy HP:0000092 rdfs:label it Atrofia tubulare renale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Respiratory arrest HP:0005943 rdfs:label it Arresto respiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Respiratory distress HP:0002098 rdfs:label it Distress respiratorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Respiratory failure HP:0002878 rdfs:label it Insufficienza respiratoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Respiratory failure requiring assisted ventilation HP:0004887 rdfs:label it Insufficienza respiratoria che richiede ventilazione assistita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Respiratory insufficiency HP:0002093 rdfs:label it Insufficienza respiratoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Respiratory insufficiency due to muscle weakness HP:0002747 rdfs:label it Insufficienza respiratoria dovuta a debolezza muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Respiratory tract infection HP:0011947 rdfs:label it Infezione delle vie respiratorie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Resting tremor HP:0002322 rdfs:label it Tremore a riposo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Restless legs HP:0012452 rdfs:label it Gambe senza riposo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Restlessness HP:0000711 rdfs:label it Irrequietezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Restricted large joint movement HP:0005193 rdfs:label it Limitazione del movimento delle grandi articolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Restrictive ventilatory defect HP:0002091 rdfs:label it Difetto ventilatorio restrittivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reticular hyperpigmentation HP:0007588 rdfs:label it Iperpigmentazione reticolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reticulated skin pigmentation HP:0007427 rdfs:label it Pigmentazione reticolare della pelle OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Reticulocytopenia HP:0001896 rdfs:label it Reticolocitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Reticulocytosis HP:0001923 rdfs:label it Reticolocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal arterial tortuosity HP:0000631 rdfs:label it Tortuosità arteriosa retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal arteriolar constriction HP:0008043 rdfs:label it Costrizione arteriolare retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal coloboma HP:0000480 rdfs:label it Coloboma retinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal degeneration HP:0000546 rdfs:label it Degenerazione retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal detachment HP:0000541 rdfs:label it Distacco di retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal dysplasia HP:0007973 rdfs:label it Displasia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal dystrophy HP:0000556 rdfs:label it Distrofia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal hamartoma HP:0009594 rdfs:label it Amartoma retinico OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Retinal hemorrhage HP:0000573 rdfs:label it Emorragia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal pigment epithelial atrophy HP:0007722 rdfs:label it Atrofia dell'epitelio pigmentato della retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal pigment epithelial mottling HP:0007814 rdfs:label it Macchie dell'epitelio pigmentato retinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal telangiectasia HP:0007763 rdfs:label it Telangectasia retinica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinal thinning HP:0030329 rdfs:label it Assottigliamento della retina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinopathy HP:0000488 rdfs:label it Retinopatia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retinopathy of prematurity HP:0500049 rdfs:label it Retinopatia della prematurità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retrocerebellar cyst HP:0006951 rdfs:label it Cisti retrocerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retrocollis HP:0002544 rdfs:label it Retrocollis CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Retrognathia HP:0000278 rdfs:label it Retrognazia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rhabdomyolysis HP:0003201 rdfs:label it Rabdomiolisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rhabdomyoma HP:0009730 rdfs:label it Rabdomioma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rheumatoid factor positive HP:0002923 rdfs:label it Fattore reumatoide positivo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Rhinitis HP:0012384 rdfs:label it Rinite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rhizomelia HP:0008905 rdfs:label it Rizomelia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rib fusion HP:0000902 rdfs:label it Fusione costale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rickets HP:0002748 rdfs:label it Rachitismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ridged nail HP:0001807 rdfs:label it Unghia rigata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Right aortic arch HP:0012020 rdfs:label it Arco aortico destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Right atrial enlargement HP:0030718 rdfs:label it Ingrossamento dell'atrio destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Right bundle branch block HP:0011712 rdfs:label it Blocco di branca destra CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Right ventricular failure HP:0001708 rdfs:label it Insufficienza ventricolare destra OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Right ventricular hypertrophy HP:0001667 rdfs:label it Ipertrofia del ventricolo destro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rigidity HP:0002063 rdfs:label it Rigidità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rimmed vacuoles HP:0003805 rdfs:label it Vacuoli cerchiati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rocker bottom foot HP:0001838 rdfs:label it Piede a dondolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rod-cone dystrophy HP:0000510 rdfs:label it Distrofia del bastoncello CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Rotary nystagmus HP:0001583 rdfs:label it Nistagmo rotatorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Round face HP:0000311 rdfs:label it Viso rotondo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en ST segment elevation HP:0012251 rdfs:label it Innalzamento del segmento ST CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sacral dimple HP:0000960 rdfs:label it Fossetta sacrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sagittal craniosynostosis HP:0004442 rdfs:label it Craniosinostosi sagittale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sandal gap HP:0001852 rdfs:label it Gola del sandalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sandwich appearance of vertebral bodies HP:0004618 rdfs:label it Aspetto a sandwich dei corpi vertebrali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scaling skin HP:0040189 rdfs:label it Pelle desquamata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scaphocephaly HP:0030799 rdfs:label it Scafocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scapular winging HP:0003691 rdfs:label it Allineamento scapolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scapuloperoneal amyotrophy HP:0003697 rdfs:label it Amiotrofia scapolo-peroneale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scarring HP:0100699 rdfs:label it Cicatrizzazione OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Schistocytosis HP:0001981 rdfs:label it Schistocitosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Schizophrenia HP:0100753 rdfs:label it Schizofrenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scimitar anomaly HP:0011626 rdfs:label it Sindrome della scimitarra CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Scissor gait HP:0012407 rdfs:label it Andatura a forbice OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Scleral staphyloma HP:0030854 rdfs:label it Stafiloma sclerale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scleroderma HP:0100324 rdfs:label it Sclerodermia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sclerosing cholangitis HP:0030991 rdfs:label it Colangite sclerosante OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Sclerosis of skull base HP:0002694 rdfs:label it Sclerosi della base cranica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Scoliosis HP:0002650 rdfs:label it Scoliosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Screwdriver-shaped incisors HP:0006346 rdfs:label it Incisivi a forma di cacciavite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Seafood allergy HP:0410333 rdfs:label it Allergia ai frutti di mare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Seasonal allergy HP:0012395 rdfs:label it Allergia stagionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Seborrheic dermatitis HP:0001051 rdfs:label it Dermatite seborroica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Second degree atrioventricular block HP:0011706 rdfs:label it Blocco atrioventricolare di secondo grado CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Secondary amenorrhea HP:0000869 rdfs:label it Amenorrea secondaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Secondary hyperparathyroidism HP:0000867 rdfs:label it Iperparatiroidismo secondario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Secondary microcephaly HP:0005484 rdfs:label it Microcefalia secondaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Secretory diarrhea HP:0005208 rdfs:label it Diarrea secretoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Secundum atrial septal defect HP:0001684 rdfs:label it Difetto del setto atriale secundum CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Seizure HP:0001250 rdfs:label it Crisi epilettica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Selective mutism HP:5200001 rdfs:label it Mutismo selettivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Self hugging HP:0032521 rdfs:label it Abbraccio di sé stesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Persistent asymmetrical tonic neck reflex HP:0032549 rdfs:label it Persistenza del riflesso tonico asimmetrico del collo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Howell-Jolly bodies HP:0032550 rdfs:label it Corpi di Howell-Jolly CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Circumoral cyanosis HP:0032556 rdfs:label it Cianosi circumpolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coiled sperm flagella HP:0032560 rdfs:label it Flagelli spermatici attorcigliati OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ileitis HP:0032564 rdfs:label it Ileite OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Renal interstitial foam cells HP:0032582 rdfs:label it Cellule schiumose interstiziali renali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal diffusion weighted cerebral MRI morphology HP:0032615 rdfs:label it Morfologia anormale della risonanza magnetica cerebrale pesata in diffusione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Self-healing squamous epithelioma HP:0034720 rdfs:label it Epitelioma squamoso autorigenerante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Self-injurious behavior HP:0100716 rdfs:label it Comportamento autolesionistico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Self-mutilation HP:0000742 rdfs:label it Automutilazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Self-mutilation of tongue and lips due to involuntary movements HP:0008767 rdfs:label it Automutilazione della lingua e delle labbra dovuta a movimenti involontari OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Semilobar holoprosencephaly HP:0002507 rdfs:label it Oloprosencefalia semilobare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sensorimotor neuropathy HP:0007141 rdfs:label it Neuropatia sensomotoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sensorineural hearing impairment HP:0000407 rdfs:label it Disturbo neurosensoriale dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sensory axonal neuropathy HP:0003390 rdfs:label it Neuropatia assonale sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sensory behavioral abnormality HP:5200046 rdfs:label it Anomalia comportamentale sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sensory neuropathy HP:0000763 rdfs:label it Neuropatia sensoriale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Sensory seeking HP:4000079 rdfs:label it Ricerca sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sepsis HP:0100806 rdfs:label it Sepsi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Septate vagina HP:0001153 rdfs:label it Vagina settata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Septo-optic dysplasia HP:0100842 rdfs:label it Displasia setto-ottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe T-cell immunodeficiency HP:0005352 rdfs:label it Grave immunodeficienza delle cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe combined immunodeficiency HP:0004430 rdfs:label it Immunodeficienza combinata grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe failure to thrive HP:0001525 rdfs:label it Grave insufficienza di crescita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe giardiasis HP:0020106 rdfs:label it Grave giardiasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe global developmental delay HP:0011344 rdfs:label it Grave ritardo globale dello sviluppo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe hearing impairment HP:0012714 rdfs:label it Grave deficit dell'udito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe intrauterine growth retardation HP:0008846 rdfs:label it Grave ritardo di crescita intrauterino CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe lactic acidosis HP:0004900 rdfs:label it Acidosi lattica grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe muscular hypotonia HP:0006829 rdfs:label it Grave ipotonia muscolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe periodontitis HP:0000166 rdfs:label it Parodontite grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe platyspondyly HP:0004565 rdfs:label it Platispondia grave CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe postnatal growth retardation HP:0008850 rdfs:label it Grave ritardo di crescita postnatale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe short stature HP:0003510 rdfs:label it Grave bassa statura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe temper tantrums HP:0025162 rdfs:label it Gravi scatti d'ira CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severe varicella zoster infection HP:0032170 rdfs:label it Grave infezione da varicella zoster CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severely reduced left ventricular ejection fraction HP:0012666 rdfs:label it Frazione di eiezione ventricolare sinistra gravemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Severely reduced visual acuity HP:0001141 rdfs:label it Acutezza visiva gravemente ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shagreen patch HP:0009721 rdfs:label it Cerotto di Shagreen CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shallow acetabular fossae HP:0003182 rdfs:label it Fosse acetabolari poco profonde CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shallow anterior chamber HP:0000594 rdfs:label it Camera anteriore poco profonda CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shallow orbits HP:0000586 rdfs:label it Orbite poco profonde CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shark teeth HP:4000168 rdfs:label it Denti di squalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shawl scrotum HP:0000049 rdfs:label it Scroto a scialle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shield chest HP:0000914 rdfs:label it Torace a scudo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 1st metacarpal HP:0010034 rdfs:label it 1° metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 2nd finger HP:0009536 rdfs:label it Secondo dito della mano corto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Short 2nd toe HP:0001885 rdfs:label it Secondo dito del piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 4th metacarpal HP:0010044 rdfs:label it Quarto metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 4th toe HP:0008093 rdfs:label it Quarto dito del piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 5th finger HP:0009237 rdfs:label it 5° dito corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 5th metacarpal HP:0010047 rdfs:label it 5° metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short 5th toe HP:0011917 rdfs:label it 5° dito del piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short attention span HP:0000736 rdfs:label it Breve capacità di attenzione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short chin HP:0000331 rdfs:label it Mento corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short clavicles HP:0000894 rdfs:label it Clavicole corte CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short columella HP:0002000 rdfs:label it Columella corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short corpus callosum HP:0200012 rdfs:label it Corpo calloso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short digit HP:0011927 rdfs:label it Digitale corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short distal phalanx of finger HP:0009882 rdfs:label it Falange distale corta del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short distal phalanx of the 5th finger HP:0004227 rdfs:label it Falange distale corta del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short eyelashes HP:0010764 rdfs:label it Ciglia corte OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Short femoral neck HP:0100864 rdfs:label it Collo del femore corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short femur HP:0003097 rdfs:label it Femore corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short fifth metatarsal HP:0004704 rdfs:label it Quinto metatarso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short finger HP:0009381 rdfs:label it Dito corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short foot HP:0001773 rdfs:label it Piede corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short forearm HP:0005773 rdfs:label it Avambraccio corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short fourth metatarsal HP:0004689 rdfs:label it Quarto metatarso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short hallux HP:0010109 rdfs:label it Alluce corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short humerus HP:0005792 rdfs:label it Omero corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short iliac bones HP:0100866 rdfs:label it Ossa iliache corte CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short long bone HP:0003026 rdfs:label it Osso lungo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short lower limbs HP:0006385 rdfs:label it Arti inferiori corti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short metacarpal HP:0010049 rdfs:label it Metacarpo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short metatarsal HP:0010743 rdfs:label it Metatarso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short middle phalanx of finger HP:0005819 rdfs:label it Falange media corta di un dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short middle phalanx of the 2nd finger HP:0009577 rdfs:label it Falange media corta del 2° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short middle phalanx of the 5th finger HP:0004220 rdfs:label it Falange media corta del 5° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short nasal bridge HP:0003194 rdfs:label it Ponte nasale corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short neck HP:0000470 rdfs:label it Collo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short nose HP:0003196 rdfs:label it Naso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short palm HP:0004279 rdfs:label it Palmo corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short palpebral fissure HP:0012745 rdfs:label it Fessura palpebrale corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short phalanx of finger HP:0009803 rdfs:label it Falange corta del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short philtrum HP:0000322 rdfs:label it Filetto corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short proximal phalanx of hallux HP:0010107 rdfs:label it Falange prossimale dell'alluce corta OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Short proximal phalanx of thumb HP:0009638 rdfs:label it Falange prossimale corta del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short ribs HP:0000773 rdfs:label it Coste corte OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Short stature HP:0004322 rdfs:label it Bassa statura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short stepped shuffling gait HP:0007311 rdfs:label it Andatura a passi corti e scalcinati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short sternum HP:0000879 rdfs:label it Sterno corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short telomere length HP:0031413 rdfs:label it Lunghezza telomero ridotta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short thumb HP:0009778 rdfs:label it Pollice corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short tibia HP:0005736 rdfs:label it Tibia corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short toe HP:0001831 rdfs:label it Alluce corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Short uvula HP:0010812 rdfs:label it Ugola corta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shortened QT interval HP:0012232 rdfs:label it Intervallo QT accorciato OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Shortening of all distal phalanges of the fingers HP:0006118 rdfs:label it Accorciamento di tutte le falangi distali delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shoulder contracture HP:0034665 rdfs:label it Contrattura della spalla OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Shoulder dislocation HP:0003834 rdfs:label it Lussazione della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shoulder dystocia HP:0011413 rdfs:label it Distocia della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shoulder flexion contracture HP:0003044 rdfs:label it Contrazione della flessione della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shoulder girdle muscle atrophy HP:0003724 rdfs:label it Atrofia dei muscoli del cingolo scapolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shoulder girdle muscle weakness HP:0003547 rdfs:label it Debolezza dei muscoli del cingolo scapolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Shoulder pain HP:0030834 rdfs:label it Dolore alla spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Shuffling gait HP:0002362 rdfs:label it Andatura irregolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sideroblastic anemia HP:0001924 rdfs:label it Anemia sideroblastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Simple ear HP:0020206 rdfs:label it Orecchio semplice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Simple febrile seizure HP:0011171 rdfs:label it Crisi febbrile semplice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Simplified gyral pattern HP:0009879 rdfs:label it Schema giroscopico semplificato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Single transverse palmar crease HP:0000954 rdfs:label it Singola piega palmare trasversale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Single umbilical artery HP:0001195 rdfs:label it Arteria ombelicale singola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Single ventricle HP:0001750 rdfs:label it Ventricolo unico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sinus bradycardia HP:0001688 rdfs:label it Bradicardia sinusale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sinus tachycardia HP:0011703 rdfs:label it Tachicardia sinusale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sinus venosus atrial septal defect HP:0011567 rdfs:label it Difetto del setto atriale del seno venoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sinusitis HP:0000246 rdfs:label it Sinusite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Situs inversus totalis HP:0001696 rdfs:label it Situs inversus totalis CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Skeletal dysplasia HP:0002652 rdfs:label it Displasia scheletrica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Skeletal muscle atrophy HP:0003202 rdfs:label it Atrofia muscolare scheletrica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Skeletal muscle hypertrophy HP:0003712 rdfs:label it Ipertrofia del muscolo scheletrico CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Skewfoot HP:0032649 rdfs:label it Piede obliquo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated lactate:pyruvate ratio HP:0032653 rdfs:label it Elevato rapporto lattato/piruvato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Convulsive status epilepticus HP:0032660 rdfs:label it Stato epilettico convulsivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized convulsive status epilepticus HP:0032661 rdfs:label it Stato epilettico convulsivo generalizzato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Generalized-onset motor seizure HP:0032677 rdfs:label it Crisi motoria a esordio generalizzato CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Focal impaired awareness motor seizure HP:0032712 rdfs:label it Crisi motoria con compromissione focale della consapevolezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal impaired awareness tonic seizure HP:0032724 rdfs:label it Crisi tonica focale con compromissione della consapevolezza CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Focal impaired awareness emotional seizure with fear/anxiety/panic HP:0032752 rdfs:label it Crisi emotiva focale con perdita della consapevolezza con paura/ansia/panico CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Focal impaired awareness autonomic seizure HP:0032755 rdfs:label it Crisi focale di alterata consapevolezza autonomica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032773 rdfs:label it Crisi autonomica focale con palpitazioni/tachicardia/bradicardia/asistolia CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Tonic seizure HP:0032792 rdfs:label it Crisi tonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myoclonic seizure HP:0032794 rdfs:label it Crisi mioclonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alkaline urine HP:0032944 rdfs:label it Urine alcaline CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal interstitial fibrosis HP:0032948 rdfs:label it Fibrosi interstiziale renale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Interstitial emphysema HP:0032965 rdfs:label it Enfisema interstiziale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Traction bronchiectasis HP:0032969 rdfs:label it Bronchiectasie da trazione OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hemosiderin-laden macrophages in bronchoalveolar fluid HP:0032979 rdfs:label it Macrofagi carichi di emosiderina nel liquido broncoalveolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Persistent head lag HP:0032988 rdfs:label it Ritardo persistente della testa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed ability to roll over HP:0032989 rdfs:label it Ritardo nella capacità di rotolare su se stessi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Skin erosion HP:0200041 rdfs:label it Erosione cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Skin rash HP:0000988 rdfs:label it Eruzione cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Skin ulcer HP:0200042 rdfs:label it Ulcera della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sleep abnormality HP:0002360 rdfs:label it Anomalia del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sleep apnea HP:0010535 rdfs:label it Apnea notturna CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sleep onset insomnia HP:0031354 rdfs:label it Difficoltà nell'addormentamento CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Sleep terror HP:0030765 rdfs:label it Terrore del sonno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sleep-wake cycle disturbance HP:0006979 rdfs:label it Disturbo del ciclo sonno-veglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sleep-wake inversion HP:0031849 rdfs:label it Inversione sonno-veglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slender build HP:0001533 rdfs:label it Corporatura esile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slender finger HP:0001238 rdfs:label it Dito sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slender long bone HP:0003100 rdfs:label it Osso lungo sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slender metacarpals HP:0006236 rdfs:label it Metacarpi sottili CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sloping forehead HP:0000340 rdfs:label it Fronte inclinata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slow saccadic eye movements HP:0000514 rdfs:label it Movimenti oculari saccadici lenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slow-growing hair HP:0002217 rdfs:label it Capelli a crescita lenta OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Slowed horizontal saccades HP:0007885 rdfs:label it Saccadi orizzontali rallentate OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Slowed slurred speech HP:0007164 rdfs:label it Rallentamento dell'eloquio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Slurred speech HP:0001350 rdfs:label it Parlare in modo confuso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small basal ganglia HP:0012697 rdfs:label it Gangli basali ridotti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small earlobe HP:0000385 rdfs:label it Lobo dell'orecchio piccolo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Small face HP:0000274 rdfs:label it Viso piccolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small for gestational age HP:0001518 rdfs:label it Piccolo per l'età gestazionale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small foramen magnum HP:0002677 rdfs:label it Forame magnum piccolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small forehead HP:0000350 rdfs:label it Fronte piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small hand HP:0200055 rdfs:label it Mano piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small hypothenar eminence HP:0010487 rdfs:label it Piccola eminenza ipotenaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small intestinal perforation HP:0031370 rdfs:label it Perforazione dell'intestino tenue OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Small joint hypermobilty HP:0430046 rdfs:label it Ipermobilità delle piccole articolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small nail HP:0001792 rdfs:label it Unghia piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small pituitary gland HP:0012506 rdfs:label it Piccola ghiandola pituitaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small thenar eminence HP:0001245 rdfs:label it Eminenza thenar piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Small vessel vasculitis HP:0011944 rdfs:label it Vasculite dei piccoli vasi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Smooth philtrum HP:0000319 rdfs:label it Filetto liscio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Social Anxiety HP:6000029 rdfs:label it Ansia sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Social and occupational deterioration HP:0007086 rdfs:label it Deterioramento sociale e lavorativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Social disinhibition HP:5200029 rdfs:label it Disinibizione sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Soft skin HP:0000977 rdfs:label it Pelle molle CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Soft, doughy skin HP:0001027 rdfs:label it Pelle morbida e pastosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Somatic sensory dysfunction HP:0003474 rdfs:label it Disfunzione sensoriale somatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sparse eyebrow HP:0045075 rdfs:label it Sopracciglio rado CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sparse eyelashes HP:0000653 rdfs:label it Ciglia rade CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sparse hair HP:0008070 rdfs:label it Capelli radi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sparse lateral eyebrow HP:0005338 rdfs:label it Sopracciglio laterale rado CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sparse lower eyelashes HP:0007776 rdfs:label it Ciglia inferiori rade OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Sparse scalp hair HP:0002209 rdfs:label it Capelli radi del cuoio capelluto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic ataxia HP:0002497 rdfs:label it Atassia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic diplegia HP:0001264 rdfs:label it Diplegia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic gait HP:0002064 rdfs:label it Andatura spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic hemiparesis HP:0011099 rdfs:label it Emiparesi spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic paraparesis HP:0002313 rdfs:label it Paraparesi spastica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Spastic paraplegia HP:0001258 rdfs:label it Paraplegia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic tetraparesis HP:0001285 rdfs:label it Tetraparesi spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic tetraplegia HP:0002510 rdfs:label it Tetraplegia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spastic triplegia HP:0034183 rdfs:label it Triplogia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spasticity HP:0001257 rdfs:label it Spasticità CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spatulate thumbs HP:0001222 rdfs:label it Pollici spatolati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Specific learning disability HP:0001328 rdfs:label it Disturbo specifico dell'apprendimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Speech apraxia HP:0011098 rdfs:label it Aprassia del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Speech articulation difficulties HP:0009088 rdfs:label it Difficoltà di articolazione del linguaggio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spherocytosis HP:0004444 rdfs:label it Sferocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spherophakia HP:0034375 rdfs:label it Sferofachia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spina bifida occulta HP:0003298 rdfs:label it Spina bifida occulta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spinal canal stenosis HP:0003416 rdfs:label it Stenosi del canale spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spinal cord compression HP:0002176 rdfs:label it Compressione del midollo spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spinal neurofibroma HP:0009735 rdfs:label it Neurofibroma spinale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Spinal rigidity HP:0003306 rdfs:label it Rigidità spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spinocerebellar tract degeneration HP:0002503 rdfs:label it Degenerazione del tratto spinocerebellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Splenic cyst HP:0030423 rdfs:label it Cisti splenica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Splenomegaly HP:0001744 rdfs:label it Splenomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Split hand HP:0001171 rdfs:label it Mano divisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spondyloepimetaphyseal dysplasia HP:0002651 rdfs:label it Displasia spondiloepimetafisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spondyloepiphyseal dysplasia HP:0002655 rdfs:label it Displasia spondiloepifisaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spondylolisthesis HP:0003302 rdfs:label it Spondilolistesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spontaneous hematomas HP:0007420 rdfs:label it Ematomi spontanei CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spontaneous pneumothorax HP:0002108 rdfs:label it Pneumotorace spontaneo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Spontaneous, recurrent epistaxis HP:0004406 rdfs:label it Epistassi spontanea ricorrente OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Spotty hyperpigmentation HP:0005585 rdfs:label it Iperpigmentazione a chiazze CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sprengel anomaly HP:0000912 rdfs:label it Anomalia di Sprengel CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Squamosal suture synostosis HP:6000612 rdfs:label it Sinostosi della sutura squamosa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Squamous cell carcinoma HP:0002860 rdfs:label it Carcinoma a cellule squamose CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Squamous cell carcinoma of the vulva HP:0030417 rdfs:label it Carcinoma a cellule squamose della vulva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Square face HP:0000321 rdfs:label it Faccia quadrata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Squared iliac bones HP:0003177 rdfs:label it Ossa iliache squadrate CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Stage 1 chronic kidney disease HP:0012623 rdfs:label it Insufficienza renale cronica al primo stadio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Stage 2 chronic kidney disease HP:0012624 rdfs:label it Insufficienza renale cronica al secondo stadio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Stage 3 chronic kidney disease HP:0012625 rdfs:label it Insufficienza renale cronica al terzo stadio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Stage 4 chronic kidney disease HP:0012626 rdfs:label it Insufficienza renale cronica al quarto stadio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Stage 5 chronic kidney disease HP:0003774 rdfs:label it Malattia renale cronica al 5° stadio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Staring gaze HP:0025401 rdfs:label it Sguardo fisso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Starry sky appearance on hepatic sonography HP:0031145 rdfs:label it "Aspetto ""a cielo stellato"" del fegato all'ecografia" OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Status epilepticus HP:0002133 rdfs:label it Stato epilettico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Status epilepticus without prominent motor symptoms HP:0031475 rdfs:label it Stato epilettico senza sintomi motori evidenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Steatorrhea HP:0002570 rdfs:label it Steatorrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stenosis of the external auditory canal HP:0000402 rdfs:label it Stenosi del canale uditivo esterno CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Steppage gait HP:0003376 rdfs:label it Andatura steppante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stereotypical body rocking HP:0012172 rdfs:label it Dondolamento stereotipato del corpo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stereotypical hand wringing HP:0012171 rdfs:label it Strizzamento stereotipato delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sterile pyuria HP:0100586 rdfs:label it Piuria sterile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Steroetypic upper-extremity movements HP:5200018 rdfs:label it Movimenti stereotipati degli arti superiori CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Stiff neck HP:0025258 rdfs:label it Collo rigido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stiff skin HP:0030053 rdfs:label it Pelle rigida CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stomatocytosis HP:0004446 rdfs:label it Stomatocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stooped posture HP:0025403 rdfs:label it Postura chinata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Strabismus HP:0000486 rdfs:label it Strabismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Striae distensae HP:0001065 rdfs:label it Striae distensae CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stridor HP:0010307 rdfs:label it Stridore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stroke HP:0001297 rdfs:label it Ictus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Stuttering HP:0025268 rdfs:label it Balbuzie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Subarachnoid hemorrhage HP:0002138 rdfs:label it Emorragia subaracnoidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Subcortical cerebral atrophy HP:0012157 rdfs:label it Atrofia cerebrale sottocorticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Subcortical white matter calcifications HP:0007346 rdfs:label it Calcificazioni della sostanza bianca sottocorticale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Subdural hemorrhage HP:0100309 rdfs:label it Emorragia subdurale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Subependymal nodules HP:0009716 rdfs:label it Noduli subependimali CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Subglottic laryngitis HP:0033000 rdfs:label it Laringite subglottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-U1 ribonucleoprotein antibody positivity HP:0033028 rdfs:label it Positività degli anticorpi anti-U1-ribonucleoproteina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-Sm antibody positivity HP:0033040 rdfs:label it Positività agli anticorpi anti-Sm CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor regression HP:0033044 rdfs:label it Regressione motoria CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Body ache HP:0033047 rdfs:label it Dolore corporeo CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired executive functioning HP:0033051 rdfs:label it Compromissione del funzionamento esecutivo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced antral follicle count HP:0033085 rdfs:label it Ridotto numero di follicoli antrali OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating D-dimer concentration HP:0033106 rdfs:label it Elevata concentrazione di D-dimero circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Delayed ability to crawl HP:0033128 rdfs:label it Ritardo nella capacità di gattonare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Renal cortical hyperechogenicity HP:0033132 rdfs:label it Iperecogenicità della corticale renale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilobed right lung HP:0033183 rdfs:label it Polmone destro bilobato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased circulating interleukin 10 concentration HP:0033199 rdfs:label it Aumento della concentrazione di interleuchina 10 circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperactive Achilles reflex HP:0033206 rdfs:label it Riflesso achilleo iperattivo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Delayed ability to walk with support HP:0033257 rdfs:label it Ritardata acquisizione della capacità di camminare con sostegno OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Subglottic stenosis HP:0001607 rdfs:label it Stenosi sottoglottica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Subluxation of metacarpal phalangeal joints HP:0004294 rdfs:label it Sublussazione delle articolazioni metacarpo-falangee CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Submucous cleft hard palate HP:0000176 rdfs:label it Palato duro con fessura sottomucosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Submucous cleft of soft and hard palate HP:0410031 rdfs:label it Fessura sottomucosa del palato molle e duro CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Submucous cleft palate HP:5201016 rdfs:label it Palatoschisi sottomucosa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Submucous cleft soft palate HP:0011819 rdfs:label it Palato molle fessurato sottomucoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Subpleural honeycombing HP:0031631 rdfs:label it Alveolatura subpleurica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Subvalvular aortic stenosis HP:0001682 rdfs:label it Stenosi aortica subvalvolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sudden cardiac death HP:0001645 rdfs:label it Morte cardiaca improvvisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sudden death HP:0001699 rdfs:label it Morte improvvisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sudden episodic apnea HP:0002882 rdfs:label it Apnea episodica improvvisa CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Sudden unexpected death in epilepsy HP:0033258 rdfs:label it Morte improvvisa e inaspettata nell'epilessia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Livedo racemosa HP:0033260 rdfs:label it Livedo racemosa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Type II pneumocyte hyperplasia HP:0033328 rdfs:label it Iperplasia degli pneumociti di tipo II OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Candida esophagitis HP:0033351 rdfs:label it Esofagite da Candida CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alveolar septal thickening HP:0033376 rdfs:label it Ispessimento del setto alveolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bilateral superior vena cava HP:0033379 rdfs:label it Vena cava superiore bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased compound muscle action potential amplitude HP:0033383 rdfs:label it Diminuzione dell'ampiezza del potenziale d'azione muscolare composto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Irregularly shaped sperm tail HP:0033393 rdfs:label it Irregolarità nella forma della coda degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated urinary 2-hydroxybutyric acid HP:0033409 rdfs:label it Elevato livello di acido 2-idrossibutirrico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cytomegalovirus colitis HP:0033431 rdfs:label it Colite da citomegalovirus OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating myoglobin concentration HP:0033438 rdfs:label it Elevata concentrazione di mioglobina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating glutarylcarnitine concentration HP:0033442 rdfs:label it Elevata concentrazione di glutarilcarnitina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tube feeding HP:0033454 rdfs:label it Alimentazione con sondino CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Weak grip HP:0033466 rdfs:label it Presa debole CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited shoulder flexion HP:0033482 rdfs:label it Flessione limitata della spalla CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Livedo reticularis HP:0033505 rdfs:label it Livedo reticularis CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limited ankle dorsiflexion HP:0033526 rdfs:label it Limitata dorsiflessione della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating brain natriuretic peptide concentration HP:0033534 rdfs:label it Aumento della concentrazione di peptide natriuretico cerebrale circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pustular rash HP:0033605 rdfs:label it Eruzione cutanea pustolosa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bone marrow maturation arrest HP:0033606 rdfs:label it Arresto della maturazione del midollo osseo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pulmonary nodule HP:0033608 rdfs:label it Nodulo polmonare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hand paresthesia HP:0033660 rdfs:label it Parestesia della mano OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Acute respiratory distress syndrome HP:0033677 rdfs:label it Sindrome da distress respiratorio acuto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pilocytic astrocytoma HP:0033680 rdfs:label it Astrocitoma pilocitico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Jaw hyperreflexia HP:0033683 rdfs:label it Iperreflessia mandibolare CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Fiber type grouping HP:0033685 rdfs:label it Raggruppamento delle fibre muscolari per tipo CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hippocampal sclerosis HP:0033715 rdfs:label it Sclerosi ippocampale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Thin corpus callosum HP:0033725 rdfs:label it Corpo calloso sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lupus nephritis HP:0033726 rdfs:label it Lupus nefritico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal exteroceptive sensation HP:0033747 rdfs:label it Sensibilità esterocettiva anormale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoesthesia HP:0033748 rdfs:label it Ipoestesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypomature enamel HP:0033786 rdfs:label it Smalto ipomaturo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acral overgrowth HP:0033794 rdfs:label it Crescita acrale eccessiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating soluble CD25 concentration HP:0033833 rdfs:label it Elevata concentrazione di CD25 solubile circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Malaise HP:0033834 rdfs:label it Malessere CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Testicular pain HP:0033839 rdfs:label it Dolore testicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Vertebral artery tortuosity HP:0033981 rdfs:label it Tortuosità dell'arteria vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronotropic incompetence HP:0033992 rdfs:label it Incompetenza cronotropa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Dependency on parenteral nutrition HP:0033994 rdfs:label it Dipendenza da nutrizione parenterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced progressive sperm motility HP:0034011 rdfs:label it Ridotta motilità progressiva degli spermatozoi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Angulated muscle fibers HP:0034045 rdfs:label it Fibre muscolari angolate CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired toe-walking ability HP:0034052 rdfs:label it Compromissione della capacità di camminare sulle punte dei piedi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased fecal calprotectin level HP:0034056 rdfs:label it Aumentati livelli fecali di calprotectina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-insulin antibody positivity HP:0034062 rdfs:label it Positività degli anticorpi anti-insulina OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-islet antigen-2 antibody positivity HP:0034063 rdfs:label it Positività degli anticorpi anti-IA2 CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Paget disease of bone HP:0034159 rdfs:label it Malattia di Paget dell'osso OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Vertebral artery aneurysm HP:0034179 rdfs:label it Aneurisma dell'arteria vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Spastic triplegia HP:0034183 rdfs:label it Triplogia spastica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Median pseudocleft lip HP:0034185 rdfs:label it Labbro pseudosinistro mediano CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ductus venosus agenesis HP:0034196 rdfs:label it Agenesia del dotto venoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Premature sagging cheeks HP:0034273 rdfs:label it Guance cadenti premature CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Target cells HP:0034280 rdfs:label it Cellule bersaglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent gingivitis HP:0034284 rdfs:label it Gengivite ricorrente OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced cerebral white matter volume HP:0034295 rdfs:label it Riduzione del volume della sostanza bianca cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en 2:1 atrioventricular block HP:0034305 rdfs:label it Blocco atrio-ventricolare 2:1 OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ventricular bigeminy HP:0034306 rdfs:label it Bigeminia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated left ventricular end-diastolic diameter HP:0034307 rdfs:label it Elevato diametro end-diastolico del ventricolo sinistro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoplastic optic chiasm HP:0034311 rdfs:label it Chiasma ottico ipoplasico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic cough HP:0034315 rdfs:label it Tosse cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced galactocerebrosidase activity HP:0034322 rdfs:label it Ridotta attività della galattocerebrosidasi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced circulating growth hormone concentration HP:0034323 rdfs:label it Ridotta concentrazione di ormone della crescita in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cognitive regression HP:0034332 rdfs:label it Regressione cognitiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Claw hand deformity HP:0034337 rdfs:label it Deformità della mano ad artiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Valvular pulmonary stenosis HP:0034350 rdfs:label it Stenosi polmonare valvolare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Appendicular spasticity HP:0034353 rdfs:label it Spasticità appendicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Action myoclonus HP:0034360 rdfs:label it Mioclono d'azione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en External tibial torsion HP:0034373 rdfs:label it Torsione tibiale esterna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Trident acetabulum HP:0034374 rdfs:label it "Aspetto ""a tridente"" dell'acetabolo" OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Spherophakia HP:0034375 rdfs:label it Sferofachia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elbow contracture HP:0034391 rdfs:label it Contrattura del gomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Joint contracture HP:0034392 rdfs:label it Contrattura articolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hippocampal malrotation HP:0034396 rdfs:label it Malrotazione dell'ippocampo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atypical teratoid/rhabdoid tumor HP:0034401 rdfs:label it Tumore teratoide/rabdoide atipico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thick oral frenulum HP:0034414 rdfs:label it Frenulo linguale spesso OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Mitral chordae tendinae rupture HP:0034419 rdfs:label it Rottura delle corde tendinee mitraliche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal eye contact HP:0034435 rdfs:label it Contatto visivo anomalo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased circulating interleukin 18 concentration HP:0034447 rdfs:label it Aumentata concentrazione di interleuchina 18 circolante OFFICIAL 0000-0003-4174-0527 PHYSICIAN 2024-11-26 -en Elevated stool chloride content HP:0034470 rdfs:label it Elevato contenuto di cloruro nelle feci OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Gingival fragility HP:0034518 rdfs:label it Fragilità gengivale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated urinary creatine level HP:0034598 rdfs:label it Elevati livelli di creatina nelle urine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Polychromasia HP:0034609 rdfs:label it Policromia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated urine fumaric acid level HP:0034648 rdfs:label it Elevato livello di acido fumarico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated urine 3-hydroxyglutaric level HP:0034656 rdfs:label it Elevato livello di 3-idrossiglutarico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated urine 3-hydroxypropionic acid level HP:0034661 rdfs:label it Elevato livello di acido 3-idrossipropionico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shoulder contracture HP:0034665 rdfs:label it Contrattura della spalla OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Knee contracture HP:0034671 rdfs:label it Contrattura del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ankle contracture HP:0034677 rdfs:label it Contrattura della caviglia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Finger joint contracture HP:0034681 rdfs:label it Contrattura dell'articolazione delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Keratinocyte vacuolization HP:0034703 rdfs:label it Vacuolizzazione dei cheratinociti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Self-healing squamous epithelioma HP:0034720 rdfs:label it Epitelioma squamoso autorigenerante CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating S-sulfocysteine concentration HP:0034745 rdfs:label it Elevata concentrazione di S-sulfocisteina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Axillary lymphadenopathy HP:0034752 rdfs:label it Linfoadenopatia ascellare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lumbar hypolordosis HP:0034770 rdfs:label it Ipolordosi lombare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Obstipation HP:0034782 rdfs:label it Costipazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic hemophagocytosis HP:0034797 rdfs:label it Emofagocitosi epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased urinary uromodulin level HP:0034886 rdfs:label it Ridotti livelli di uromodulina nelle urine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated brain glycine level by MRS HP:0034893 rdfs:label it Elevato livello di glicina cerebrale mediante MRS CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating lathosterol concentration HP:0034936 rdfs:label it Elevata concentrazione di catosterolo in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating desmosterol concentration HP:0034937 rdfs:label it Elevata concentrazione di desmosterolo circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Duodenal gastrinoma HP:0034953 rdfs:label it Gastrinoma duodenale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Wide cavum septum pellucidum HP:0034964 rdfs:label it Ampia cavità del setto pellucido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Sulfocysteinuria HP:0032350 rdfs:label it Sulfocisteinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Superficial dermal perivascular inflammatory infiltrate HP:0031190 rdfs:label it Infiltrato infiammatorio superficiale dermico perivascolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supernumerary maxillary incisor HP:0006332 rdfs:label it Incisivo mascellare soprannumerario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supernumerary nipple HP:0002558 rdfs:label it Capezzolo soprannumerario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supernumerary ribs HP:0005815 rdfs:label it Costole soprannumerarie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supernumerary tooth HP:0011069 rdfs:label it Dente soprannumerario CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supranuclear gaze palsy HP:0000605 rdfs:label it Paralisi sopranucleare dello sguardo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supranuclear ophthalmoplegia HP:0000623 rdfs:label it Oftalmoplegia sopranucleare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Supravalvular aortic stenosis HP:0004381 rdfs:label it Stenosi aortica sopravalvolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Supraventricular tachycardia HP:0004755 rdfs:label it Tachicardia sopraventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Symphalangism affecting the phalanges of the hallux HP:0010064 rdfs:label it Sinfalangismo delle falangi dell'alluce CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Symphalangism affecting the phalanges of the hand HP:0009773 rdfs:label it Sinfalangismo che colpisce le falangi della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Symphalangism of the thumb HP:0009656 rdfs:label it Sinfalangismo del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Syncope HP:0001279 rdfs:label it Sincope CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Syndactyly HP:0001159 rdfs:label it Sindattilia CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Synkinesis HP:0034980 rdfs:label it Sincinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hepatic sinusoidal dilatation HP:0035006 rdfs:label it Dilatazione sinusoidale epatica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Finger clinodactyly HP:0040019 rdfs:label it Clinodattilia delle dita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clinodactyly of the 2nd finger HP:0040022 rdfs:label it Clinodattilia del 2° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clinodactyly of the 3rd finger HP:0040024 rdfs:label it Clinodattilia del 3° dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Onycholysis of fingernails HP:0040039 rdfs:label it Onicolisi delle unghie CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of limbs HP:0040064 rdfs:label it Anomalia degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypopituitarism HP:0040075 rdfs:label it Ipopituitarismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anteverted ears HP:0040080 rdfs:label it Orecchie anteriori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating creatine kinase concentration HP:0040081 rdfs:label it Concentrazione anormale di creatina chinasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Happy demeanor HP:0040082 rdfs:label it Comportamento felice CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating renin HP:0040084 rdfs:label it Concentrazione anormale di renina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal circulating aldosterone HP:0040085 rdfs:label it Concentrazione anormale di aldosterone circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal blood folate concentration HP:0040087 rdfs:label it Concentrazione anomala di folati nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal natural killer cell count HP:0040089 rdfs:label it Conta anomala delle cellule natural killer CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal nerve conduction velocity HP:0040129 rdfs:label it Velocità di conduzione nervosa anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating iron concentration HP:0040130 rdfs:label it Concentrazione anormale di ferro circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal sensory nerve conduction velocity HP:0040132 rdfs:label it Velocità di conduzione del nervo sensoriale anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal hepatic iron concentration HP:0040134 rdfs:label it Concentrazione anormale di ferro nel fegato OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Dicarboxylic acidemia HP:0040145 rdfs:label it Acidemia dicarbossilica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Woolly scalp hair HP:0040149 rdfs:label it Capelli lanosi del cuoio capelluto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated urinary 3-hydroxybutyric acid HP:0040155 rdfs:label it Elevato acido 3-idrossibutirrico urinario CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Generalized osteoporosis HP:0040160 rdfs:label it Osteoporosi generalizzata OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Orthokeratosis HP:0040162 rdfs:label it Ortocheratosi OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal pelvis bone morphology HP:0040163 rdfs:label it Morfologia ossea anormale del bacino CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased serum testosterone concentration HP:0040171 rdfs:label it Diminuzione della concentrazione sierica di testosterone CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Encopresis HP:0040183 rdfs:label it Escopresi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oral bleeding HP:0040184 rdfs:label it Sanguinamento orale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Scaling skin HP:0040189 rdfs:label it Pelle desquamata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en White scaling skin HP:0040190 rdfs:label it Pelle bianca desquamata CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypoinsulinemia HP:0040216 rdfs:label it Ipoinsulinemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated hemoglobin A1c HP:0040217 rdfs:label it Emoglobina A1c elevata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced natural killer cell count HP:0040218 rdfs:label it Riduzione della conta delle cellule natural killer CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperintensity of MRI T2 signal of the spinal cord HP:0040272 rdfs:label it Iperintensità del segnale T2 della risonanza magnetica del midollo spinale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nasogastric tube feeding HP:0040288 rdfs:label it Alimentazione con tubo nasogastrico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating free fatty acid concentration HP:0040300 rdfs:label it Concentrazione anormale di acidi grassi liberi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Red urine HP:0040318 rdfs:label it Urine rosse OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Dark urine HP:0040319 rdfs:label it Urine scure CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Focal hyperintensity of cerebral white matter on MRI HP:0040328 rdfs:label it Iperintensità focale della sostanza bianca cerebrale alla RMN CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Multifocal hyperintensity of cerebral white matter on MRI HP:0040329 rdfs:label it Iperintensità multifocale della sostanza bianca cerebrale alla RMN CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Confluent hyperintensity of cerebral white matter on MRI HP:0040330 rdfs:label it Iperintensità confluente della sostanza bianca cerebrale alla risonanza magnetica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hot cross bun sign HP:0041056 rdfs:label it Segno della croce (ponte) CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased body fat percentage HP:0041079 rdfs:label it Ridotta percentuale di grasso corporeo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Fractured elbow HP:0041219 rdfs:label it Frattura del gomito OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Narrow palpebral fissure HP:0045025 rdfs:label it Fessura palpebrale stretta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Microlissencephaly HP:0045028 rdfs:label it Microlissencefalia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal circulating lactate dehydrogenase concentration HP:0045040 rdfs:label it Concentrazione anormale di lattato deidrogenasi in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating acylcarnitine concentration HP:0045045 rdfs:label it Elevata concentrazione di acilcarnitina in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased DLCO HP:0045051 rdfs:label it Diminuzione della DLCO CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tiger tail banding HP:0045055 rdfs:label it "Aspetto ""a coda di tigre"" del capello" CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Synophrys HP:0000664 rdfs:label it Sinofrite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Syringomyelia HP:0003396 rdfs:label it Siringomielia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Systemic lupus erythematosus HP:0002725 rdfs:label it Lupus eritematoso sistemico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en T lymphocytopenia HP:0005403 rdfs:label it Linfocitopenia T CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en T-cell lymphoma HP:0012190 rdfs:label it Linfoma a cellule T OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en T-wave alternans HP:0012266 rdfs:label it Alternanza dell'onda T OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en T-wave inversion HP:0010872 rdfs:label it Inversione delle onde T OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en T2 hypointense basal ganglia HP:0012753 rdfs:label it Gangli della base ipointensi in T2 OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Tachycardia HP:0001649 rdfs:label it Tachicardia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tachypnea HP:0002789 rdfs:label it Tachipnea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Talipes HP:0001883 rdfs:label it Talipes CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Talipes equinovarus HP:0001762 rdfs:label it Talipes equinovarus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Talipes valgus HP:0004684 rdfs:label it Talipe valgo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tall chin HP:0400000 rdfs:label it Mento alto OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Tall stature HP:0000098 rdfs:label it Alta statura CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Talon cusp HP:0011087 rdfs:label it Cuspide dell'artiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tapered distal phalanges of finger HP:0009884 rdfs:label it Falangi distali affusolate del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tapered finger HP:0001182 rdfs:label it Dito affusolato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Target cells HP:0034280 rdfs:label it Cellule bersaglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tarlov cyst HP:0025643 rdfs:label it Cisti di Tarlov CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Telecanthus HP:0000506 rdfs:label it Telecanthus CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Temporal cortical atrophy HP:0007112 rdfs:label it Atrofia corticale temporale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Temporal optic disc pallor HP:0012511 rdfs:label it Pallore temporale della papilla ottica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Temporomandibular joint ankylosis HP:0012478 rdfs:label it Anchilosi dell'articolazione temporo-mandibolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Tendon rupture HP:0100550 rdfs:label it Rottura di un tendine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tented upper lip vermilion HP:0010804 rdfs:label it Vermiglio del labbro superiore lacerato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Testicular atrophy HP:0000029 rdfs:label it Atrofia testicolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Testicular pain HP:0033839 rdfs:label it Dolore testicolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tetany HP:0001281 rdfs:label it Tetania CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tethered cord HP:0002144 rdfs:label it Cordone ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tetralogy of Fallot HP:0001636 rdfs:label it Tetralogia di Fallot CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tetraparesis HP:0002273 rdfs:label it Tetraparesi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tetraplegia HP:0002445 rdfs:label it Tetraplegia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thenar muscle atrophy HP:0003393 rdfs:label it Atrofia del muscolo Thenar CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick cerebral cortex HP:0006891 rdfs:label it Corteccia cerebrale spessa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick corpus callosum HP:0007074 rdfs:label it Corpo calloso spesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick eyebrow HP:0000574 rdfs:label it Sopracciglio folto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick hair HP:0100874 rdfs:label it Capelli spessi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick lower lip vermilion HP:0000179 rdfs:label it Labbro inferiore spesso e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick nasal alae HP:0009928 rdfs:label it Alae nasali spesse CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick nasal septum HP:0009746 rdfs:label it Setto nasale spesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick oral frenulum HP:0034414 rdfs:label it Frenulo linguale spesso OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Thick upper lip vermilion HP:0000215 rdfs:label it Labbro superiore spesso e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thick vermilion border HP:0012471 rdfs:label it Bordo vermiglio spesso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thickened calvaria HP:0002684 rdfs:label it Calvario ispessito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thickened cortex of long bones HP:0000935 rdfs:label it Corteccia ispessita delle ossa lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thickened ears HP:0009894 rdfs:label it Orecchie ispessite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thickened glomerular basement membrane HP:0004722 rdfs:label it Membrana basale glomerulare ispessita OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Thickened helices HP:0000391 rdfs:label it Eliche ispessite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thickened mitral valve cusp HP:6000342 rdfs:label it Lembo valvolare mitralico ispessito OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Thickened nuchal skin fold HP:0000474 rdfs:label it Piega cutanea nucale ispessita CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thickened skin HP:0001072 rdfs:label it Pelle ispessita OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Thickening of the tubular basement membrane HP:0020132 rdfs:label it Ispessimento della membrana basale tubulare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Thin bony cortex HP:0002753 rdfs:label it Corteccia ossea sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin corpus callosum HP:0033725 rdfs:label it Corpo calloso sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin ear helix HP:0009905 rdfs:label it Elice sottile OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 en Thin eyebrow HP:0045074 rdfs:label it Sopracciglio sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sparse eyebrow HP:0045075 rdfs:label it Sopracciglio rado CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Knee joint hypermobility HP:0045086 rdfs:label it Ipermobilità dell'articolazione del ginocchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hip joint hypermobility HP:0045087 rdfs:label it Ipermobilità dell'articolazione dell'anca OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Nuclear cataract HP:0100018 rdfs:label it Cataratta nucleare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cortical cataract HP:0100019 rdfs:label it Cataratta corticale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cerebral palsy HP:0100021 rdfs:label it Paralisi cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of movement HP:0100022 rdfs:label it Anomalia del movimento CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent hand flapping HP:0100023 rdfs:label it Sbandamento ricorrente delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Overfriendliness HP:0100025 rdfs:label it Eccessiva cordialità CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Tics HP:0100033 rdfs:label it Tic CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Motor tics HP:0100034 rdfs:label it Tic motori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Phonic tics HP:0100035 rdfs:label it Tic fonici CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad 2nd toe HP:0100040 rdfs:label it Secondo dito del piede largo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Recurrent singultus HP:0100247 rdfs:label it Singulto ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Preaxial polydactyly HP:0100258 rdfs:label it Polidattilia preassiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Postaxial polydactyly HP:0100259 rdfs:label it Polidattilia postassiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Branchial sinus HP:0100272 rdfs:label it Seno branchiale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Diffuse cerebellar atrophy HP:0100275 rdfs:label it Atrofia cerebellare diffusa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Periauricular skin pits HP:0100277 rdfs:label it Fosse cutanee periauricolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Ulcerative colitis HP:0100279 rdfs:label it Colite ulcerosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Crohn's disease HP:0100280 rdfs:label it Malattia di Crohn CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic colitis HP:0100281 rdfs:label it Colite cronica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en EMG: myokymic discharges HP:0100288 rdfs:label it EMG: scariche miochimiche CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Delayed somatosensory central conduction time HP:0100291 rdfs:label it Ritardo del tempo di conduzione centrale somatosensoriale CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Muscle fiber atrophy HP:0100295 rdfs:label it Atrofia delle fibre muscolari CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased endomysial connective tissue HP:0100297 rdfs:label it Aumento del tessuto connettivo endomisiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Muscle fiber inclusion bodies HP:0100299 rdfs:label it Inclusioni nelle fibre muscolari CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Subdural hemorrhage HP:0100309 rdfs:label it Emorragia subdurale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lewy bodies HP:0100315 rdfs:label it Corpi di Lewy OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lafora bodies HP:0100318 rdfs:label it Corpi di Lafora OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal dentate nucleus morphology HP:0100321 rdfs:label it Morfologia anomala del nucleo dentato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scleroderma HP:0100324 rdfs:label it Sclerodermia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cow milk allergy HP:0100327 rdfs:label it Allergia al latte vaccino CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral cleft lip HP:0100336 rdfs:label it Labiopalatoschisi bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral cleft palate HP:0100337 rdfs:label it Palatoschisi bilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aplasia of the distal phalanx of the 4th toe HP:0100379 rdfs:label it Aplasia della falange distale del 4° dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duplication of the distal phalanx of the 3rd toe HP:0100398 rdfs:label it Duplicazione della falange distale del 3° dito del piede CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Camptodactyly of finger HP:0100490 rdfs:label it Camptodattilia del dito CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating vitamin B12 concentration HP:0100502 rdfs:label it Diminuzione della concentrazione di vitamina B12 in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased circulating vitamin D concentration HP:0100512 rdfs:label it Diminuzione della concentrazione di vitamina D in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin lower lip vermilion HP:0010282 rdfs:label it Labbro inferiore sottile e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin nail HP:0001816 rdfs:label it Unghia sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin ribs HP:0000883 rdfs:label it Costole sottili CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin skin HP:0000963 rdfs:label it Pelle sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin upper lip vermilion HP:0000219 rdfs:label it Labbro superiore sottile e vermiglio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thin vermilion border HP:0000233 rdfs:label it Bordo vermiglio sottile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Third degree atrioventricular block HP:0001709 rdfs:label it Blocco atrioventricolare di terzo grado CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracic aortic aneurysm HP:0012727 rdfs:label it Aneurisma dell'aorta toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracic dysplasia HP:0006644 rdfs:label it Displasia toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracic hypoplasia HP:0005257 rdfs:label it Ipoplasia toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracic kyphosis HP:0002942 rdfs:label it cifosi toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracic platyspondyly HP:0004592 rdfs:label it Platispondia toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracic scoliosis HP:0002943 rdfs:label it Scoliosi toracica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracolumbar kyphosis HP:0005619 rdfs:label it Cifosi toracolombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thoracolumbar scoliosis HP:0002944 rdfs:label it Scoliosi toracolombare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thrombocytopenia HP:0001873 rdfs:label it Trombocitopenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thrombocytosis HP:0001894 rdfs:label it Trombocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thromboembolism HP:0001907 rdfs:label it Tromboembolismo CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Thymoma HP:0100522 rdfs:label it Timoma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Liver abscess HP:0100523 rdfs:label it Ascesso epatico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal blood phosphate concentration HP:0100529 rdfs:label it Concentrazione anomala di fosfati nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the supraorbital ridges HP:0100538 rdfs:label it Anomalia delle creste sopraorbitarie CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Periorbital edema HP:0100539 rdfs:label it Edema periorbitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Femoral hernia HP:0100541 rdfs:label it Ernia femorale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Cognitive impairment HP:0100543 rdfs:label it Compromissione cognitiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carotid artery stenosis HP:0100546 rdfs:label it Stenosi dell'arteria carotidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tendon rupture HP:0100550 rdfs:label it Rottura di un tendine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lower limb asymmetry HP:0100559 rdfs:label it Asimmetria degli arti inferiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Upper limb asymmetry HP:0100560 rdfs:label it Asimmetria degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Carcinoid tumor HP:0100570 rdfs:label it Tumore carcinoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lipoatrophy HP:0100578 rdfs:label it Lipoatrofia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dilatation of renal calices HP:0100581 rdfs:label it Dilatazione dei calici renali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sterile pyuria HP:0100586 rdfs:label it Piuria sterile CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Penoscrotal transposition HP:0100600 rdfs:label it Trasposizione penoscrotale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Myositis HP:0100614 rdfs:label it Miosite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged thorax HP:0100625 rdfs:label it Torace ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Midline facial cleft HP:0100629 rdfs:label it Mancanza di linea mediana del viso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Esophagitis HP:0100633 rdfs:label it Esofagite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thyroid agenesis HP:0008191 rdfs:label it Agenesia della tiroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Thyroid nodule HP:0025388 rdfs:label it Nodulo della tiroide CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Thyroiditis HP:0100646 rdfs:label it Tiroidite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Graves disease HP:0100647 rdfs:label it Malattia di Basedow-Graves OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 +en Tibial bowing HP:0002982 rdfs:label it Arco tibiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tibial torsion HP:0100694 rdfs:label it Torsione tibiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tics HP:0100033 rdfs:label it Tic CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tiger tail banding HP:0045055 rdfs:label it "Aspetto ""a coda di tigre"" del capello" CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Tinnitus HP:0000360 rdfs:label it Acufene CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tip-toe gait HP:0030051 rdfs:label it Andatura in punta di piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Titubation HP:0030187 rdfs:label it Titubazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Toe clinodactyly HP:0001863 rdfs:label it Clinodattilia dell'alluce CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Toe syndactyly HP:0001770 rdfs:label it Sindattilia delle dita dei piedi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tongue atrophy HP:0012473 rdfs:label it Atrofia della lingua CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tongue fasciculations HP:0001308 rdfs:label it Fascicolazioni della lingua CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tongue thrusting HP:0100703 rdfs:label it Spinta della lingua CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tonic seizure HP:0032792 rdfs:label it Crisi tonica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tooth abscess HP:0030757 rdfs:label it Ascesso del dente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tooth agenesis HP:0009804 rdfs:label it Agenesia dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tooth malposition HP:0000692 rdfs:label it Malposizione dei denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Torsade de pointes HP:0001664 rdfs:label it Torsade de pointes CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Torticollis HP:0000473 rdfs:label it Torticollo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tortuous cerebral arteries HP:0004938 rdfs:label it Arterie cerebrali tortuose CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Total anomalous pulmonary venous return HP:0005160 rdfs:label it Ritorno venoso polmonare anomalo totale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Tracheobronchomalacia HP:0002786 rdfs:label it Tracheobroncomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tracheoesophageal fistula HP:0002575 rdfs:label it Fistola tracheo-esofagea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tracheomalacia HP:0002779 rdfs:label it Tracheomalacia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Traction bronchiectasis HP:0032969 rdfs:label it Bronchiectasie da trazione OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Transient ischemic attack HP:0002326 rdfs:label it Attacco ischemico transitorio CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Transposition of the great arteries HP:0001669 rdfs:label it Trasposizione delle grandi arterie CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tremor HP:0001337 rdfs:label it Tremore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Triangular face HP:0000325 rdfs:label it Faccia triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Triangular mouth HP:0000207 rdfs:label it Bocca triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Triangular shaped phalanges of the hand HP:0009774 rdfs:label it Falangi della mano a forma triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Triangular-shaped open mouth HP:0200096 rdfs:label it Bocca aperta a forma triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tricuspid atresia HP:0011662 rdfs:label it Atresia tricuspidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tricuspid regurgitation HP:0005180 rdfs:label it Rigurgito tricuspidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tricuspid stenosis HP:0010446 rdfs:label it Stenosi tricuspidale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tricuspid valve prolapse HP:0001704 rdfs:label it Prolasso della valvola tricuspide CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Trident acetabulum HP:0034374 rdfs:label it "Aspetto ""a tridente"" dell'acetabolo" OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Trident hand HP:0004060 rdfs:label it Mano a tridente CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Triggered by physical trauma HP:0031135 rdfs:label it Scatenato da un trauma fisico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Trigonocephaly HP:0000243 rdfs:label it Trigonocefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Triphalangeal thumb HP:0001199 rdfs:label it Pollice trifalangeo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Truncal ataxia HP:0002078 rdfs:label it Atassia troncale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Truncal obesity HP:0001956 rdfs:label it Obesità troncale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Truncal titubation HP:0030147 rdfs:label it Titubazione troncale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Truncus arteriosus HP:0001660 rdfs:label it Tronco arterioso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tube feeding HP:0033454 rdfs:label it Alimentazione con sondino CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Tubulointerstitial nephritis HP:0001970 rdfs:label it Nefrite tubulointerstiziale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Turricephaly HP:0000262 rdfs:label it Turricefalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Type 1 muscle fiber predominance HP:0003803 rdfs:label it Predominanza di fibre muscolari di tipo 1 CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Type 2 muscle fiber predominance HP:0010602 rdfs:label it Prevalenza di fibre muscolari di tipo 2 CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Type I diabetes mellitus HP:0100651 rdfs:label it Diabete mellito di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cellulitis HP:0100658 rdfs:label it Cellulite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dyskinesia HP:0100660 rdfs:label it Discinesia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Coarse metaphyseal trabecularization HP:0100670 rdfs:label it Trabecolarizzazione metafisaria grossolana CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enthesitis HP:0100686 rdfs:label it Entesite CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased corneal thickness HP:0100689 rdfs:label it Spessore corneale ridotto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Tibial torsion HP:0100694 rdfs:label it Torsione tibiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Scarring HP:0100699 rdfs:label it Cicatrizzazione OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Arachnoid cyst HP:0100702 rdfs:label it Ciste aracnoidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tongue thrusting HP:0100703 rdfs:label it Spinta della lingua CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cerebral visual impairment HP:0100704 rdfs:label it Disturbo visivo cerebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Impulsivity HP:0100710 rdfs:label it Impulsività CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Self-injurious behavior HP:0100716 rdfs:label it Comportamento autolesionistico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Uterine rupture HP:0100718 rdfs:label it Rottura uterina CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lens coloboma HP:0100719 rdfs:label it Coloboma della lente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Mediastinal lymphadenopathy HP:0100721 rdfs:label it Linfoadenopatia mediastinica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Bronchogenic cyst HP:0100730 rdfs:label it Cisti broncogena CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertensive crisis HP:0100735 rdfs:label it Crisi ipertensiva OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Abnormal eating behavior HP:0100738 rdfs:label it Comportamento alimentare anomalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atelectasis HP:0100750 rdfs:label it Atelettasia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Schizophrenia HP:0100753 rdfs:label it Schizofrenia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Clubbing of fingers HP:0100759 rdfs:label it Arrotondamento delle dita delle mani CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lymphangioma HP:0100764 rdfs:label it Linfoangioma CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hyperostosis HP:0100774 rdfs:label it Iperostosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dural ectasia HP:0100775 rdfs:label it Ectasia durale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Insomnia HP:0100785 rdfs:label it Insonnia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypersomnia HP:0100786 rdfs:label it Ipersonnia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hernia HP:0100790 rdfs:label it Ernia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Acantholysis HP:0100792 rdfs:label it Acantolisi CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Type I transferrin isoform profile HP:0003642 rdfs:label it Profilo dell'isoforma di transferrina di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Type I truncus arteriosus HP:0004384 rdfs:label it Truncus arteriosus di tipo I CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Type II diabetes mellitus HP:0005978 rdfs:label it Diabete mellito di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Type II pneumocyte hyperplasia HP:0033328 rdfs:label it Iperplasia degli pneumociti di tipo II OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Type II transferrin isoform profile HP:0012301 rdfs:label it Profilo dell'isoforma della transferrina di tipo II CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Typical absence seizure HP:0011147 rdfs:label it Tipica crisi d'assenza CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en U-Shaped upper lip vermilion HP:0010806 rdfs:label it Vermiglio del labbro superiore a forma di U CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ulcerative colitis HP:0100279 rdfs:label it Colite ulcerosa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ulnar bowing HP:0003031 rdfs:label it Inarcamento ulnare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ulnar deviation of the hand HP:0009487 rdfs:label it Deviazione ulnare della mano CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ulnar deviation of thumb HP:0006156 rdfs:label it Deviazione ulnare del pollice CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ultra-low vision with no light perception HP:0032287 rdfs:label it Visione ultrabassa con assenza di percezione della luce CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ultra-low vision with retained light perception HP:0032286 rdfs:label it Bassissima visione con percezione della luce conservata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ultra-low vision with retained light projection HP:0032285 rdfs:label it Visione ultrabassa con proiezione di luce trattenuta CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Umbilical hernia HP:0001537 rdfs:label it Ernia ombelicale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unconjugated hyperbilirubinemia HP:0008282 rdfs:label it Iperbilirubinemia non coniugata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Underdeveloped nasal alae HP:0000430 rdfs:label it Alae nasali poco sviluppate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Underdeveloped supraorbital ridges HP:0009891 rdfs:label it Creste sopraorbitali sottosviluppate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Underdeveloped tragus HP:0011272 rdfs:label it Trago sottosviluppato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Undetectable electroretinogram HP:0000550 rdfs:label it Elettroretinogramma non rilevabile CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Ungual fibroma HP:0100804 rdfs:label it Fibroma ungueale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sepsis HP:0100806 rdfs:label it Sepsi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Long fingers HP:0100807 rdfs:label it Dita lunghe CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Gastric diverticulum HP:0100808 rdfs:label it Diverticolo gastrico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Pointed helix HP:0100810 rdfs:label it Elica appuntita CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Blue nevus HP:0100814 rdfs:label it Nevo blu CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Rectocele HP:0100822 rdfs:label it Rettocele OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Lymphocytosis HP:0100827 rdfs:label it Linfocitosi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased T cell count HP:0100828 rdfs:label it Aumento del numero di cellule T CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Galactorrhea HP:0100829 rdfs:label it Galattorrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent cutaneous abscess formation HP:0100838 rdfs:label it Formazione di ascessi cutanei ricorrenti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Septo-optic dysplasia HP:0100842 rdfs:label it Displasia setto-ottica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal emotion HP:0100851 rdfs:label it Emozioni anomale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Flat sella turcica HP:0100857 rdfs:label it Sella turcica piatta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short femoral neck HP:0100864 rdfs:label it Collo del femore corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Broad ischia HP:0100865 rdfs:label it Ampia ischia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short iliac bones HP:0100866 rdfs:label it Ossa iliache corte CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Duodenal stenosis HP:0100867 rdfs:label it Stenosi duodenale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Thick hair HP:0100874 rdfs:label it Capelli spessi CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Infra-orbital crease HP:0100876 rdfs:label it Piega infraorbitale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged uterus HP:0100878 rdfs:label it Utero ingrossato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Enlarged sylvian cistern HP:0100952 rdfs:label it Cisterna silviana allargata CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lateral ventricular asymmetry HP:0100960 rdfs:label it Asimmetria ventricolare laterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Excessive shyness HP:0100962 rdfs:label it Timidezza CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Short corpus callosum HP:0200012 rdfs:label it Corpo calloso corto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Down-sloping shoulders HP:0200021 rdfs:label it Spalle inclinate verso il basso CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Papule HP:0200034 rdfs:label it Papula OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Epidermoid cyst HP:0200040 rdfs:label it Cisti epidermoidea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Skin erosion HP:0200041 rdfs:label it Erosione cutanea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Skin ulcer HP:0200042 rdfs:label it Ulcera della pelle CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Verrucae HP:0200043 rdfs:label it Verrucae CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cyanotic episode HP:0200048 rdfs:label it Episodio cianotico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unilateral cryptorchidism HP:0012741 rdfs:label it Criptorchidismo unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unilateral multifocal epileptiform discharges HP:0011191 rdfs:label it Scariche epilettiformi multifocali unilaterali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unilateral ptosis HP:0007687 rdfs:label it Ptosi unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unilateral renal agenesis HP:0000122 rdfs:label it Agenesia renale unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unilateral renal hypoplasia HP:0012583 rdfs:label it Ipoplasia renale unilaterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Unroofed coronary sinus HP:0031297 rdfs:label it Difetto del setto interatriale tipo seno coronarico CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Unsteady gait HP:0002317 rdfs:label it Andatura instabile CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upgaze palsy HP:0025331 rdfs:label it Paralisi dello sguardo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Uplifted earlobe HP:0009909 rdfs:label it Lobo dell'orecchio sollevato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper eyelid coloboma HP:0000636 rdfs:label it Coloboma della palpebra superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb amyotrophy HP:0009129 rdfs:label it Amiotrofia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb asymmetry HP:0100560 rdfs:label it Asimmetria degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb dysmetria HP:0020036 rdfs:label it Dismetria degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 en Upper limb hypertonia HP:0200049 rdfs:label it Ipertonia degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small hand HP:0200055 rdfs:label it Mano piccola CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Limb tremor HP:0200085 rdfs:label it Tremore degli arti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Triangular-shaped open mouth HP:0200096 rdfs:label it Bocca aperta a forma triangolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Metabolic alkalosis HP:0200114 rdfs:label it Alcalosi metabolica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Chronic active hepatitis HP:0200120 rdfs:label it Epatite cronica attiva OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Biventricular hypertrophy HP:0200128 rdfs:label it Ipertrofia biventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Lumbosacral meningocele HP:0200133 rdfs:label it Meningocele lombosacrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Epileptic encephalopathy HP:0200134 rdfs:label it Encefalopatia epilettica CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Oral-pharyngeal dysphagia HP:0200136 rdfs:label it Disfagia oro-faringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cutaneous mastocytosis HP:0200151 rdfs:label it Mastocitosi cutanea OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Agenesis of maxillary incisor HP:0200160 rdfs:label it Agenesia dell'incisivo mascellare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Tall chin HP:0400000 rdfs:label it Mento alto OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Otitis externa HP:0410017 rdfs:label it Otite esterna CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent ear infections HP:0410018 rdfs:label it Infezioni ricorrenti dell'orecchio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Alveolar bone loss around teeth HP:0410027 rdfs:label it Perdita di osso alveolare intorno ai denti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Recurrent oral herpes HP:0410028 rdfs:label it Herpes orale ricorrente CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Cleft lip HP:0410030 rdfs:label it Labbro leporino CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Submucous cleft of soft and hard palate HP:0410031 rdfs:label it Fessura sottomucosa del palato molle e duro CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal radial ray morphology HP:0410049 rdfs:label it Morfologia anomala del raggio radiale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased level of hippuric acid in urine HP:0410066 rdfs:label it Aumento del livello di acido ippurico nelle urine CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Eosinophilic infiltration of the esophagus HP:0410151 rdfs:label it Infiltrazione eosinofila dell'esofago CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hippocampal atrophy HP:0410170 rdfs:label it Atrofia dell'ippocampo OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased circulating troponin T concentration HP:0410174 rdfs:label it Aumento della concentrazione di troponina T in circolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal glucose-6-phosphate dehydrogenase level in blood HP:0410177 rdfs:label it Livello anomalo di glucosio-6-fosfato deidrogenasi nel sangue CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating IgA level HP:0410240 rdfs:label it Livello anormale di IgA circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating IgG level HP:0410242 rdfs:label it Livello anormale di IgG circolanti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal circulating IgM level HP:0410243 rdfs:label it Livello anormale di IgM in circolazione CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Brain imaging abnormality HP:0410263 rdfs:label it Anomalia della diagnostica per immagini del cervello CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Complete or near-complete absence of specific antibody response to tetanus vaccine HP:0410295 rdfs:label it Assenza completa o quasi completa di risposta anticorpale specifica al vaccino antitetanico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Partial absence of specific antibody response to tetanus vaccine HP:0410297 rdfs:label it Parziale assenza di risposta anticorpale specifica al vaccino antitetanico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased specific antibody response to polysaccharide vaccine HP:0410299 rdfs:label it Ridotta risposta anticorpale specifica al vaccino polisaccaridico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Partial absence of specific antibody response to unconjugated pneumococcus vaccine HP:0410301 rdfs:label it Parziale assenza di risposta anticorpale specifica al vaccino anti-pneumococco non coniugato CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased specific antibody response to protein-conjugated polysaccharide vaccine HP:0410302 rdfs:label it Ridotta risposta anticorpale specifica ai vaccini polisaccaridici coniugati con proteine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine HP:0410305 rdfs:label it Assenza parziale di risposta anticorpale specifica al vaccino Haemophilus influenzae tipo b (Hib) CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Drug allergy HP:0410323 rdfs:label it Allergia ai farmaci CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Dairy allergy HP:0410327 rdfs:label it Allergia ai latticini CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Egg allergy HP:0410328 rdfs:label it Allergia alle uova CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Meat allergen allergy HP:0410330 rdfs:label it Allergia agli allergeni della carne CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Nut food product allergy HP:0410331 rdfs:label it Allergia ai prodotti alimentari a base di frutta a guscio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Seafood allergy HP:0410333 rdfs:label it Allergia ai frutti di mare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased proportion of naive CD8 T cells HP:0410377 rdfs:label it Ridotta proporzione di cellule T CD8 naive OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased proportion of CD4-positive, alpha-beta memory T cells HP:0410386 rdfs:label it Ridotta proporzione di cellule T alfa-beta della memoria CD4-positive CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased proportion of central memory CD8-positive, alpha-beta T cells HP:0410389 rdfs:label it Ridotta proporzione di cellule T alfa-beta della memoria centrale CD8-positive CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased proportion of effector memory CD8-positive, alpha-beta T cells HP:0410395 rdfs:label it Aumentata proporzione di cellule T alfa-beta della memoria effettrice CD8-positive CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent sebaceous glands HP:0410400 rdfs:label it Ghiandole sebacee assenti CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormality of the sphenoid sinus HP:0430022 rdfs:label it Anomalia del seno sfenoide CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Bilateral facial palsy HP:0430025 rdfs:label it Paralisi facciale bilaterale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hyperplasia of the maxilla HP:0430028 rdfs:label it Iperplasia della mascella CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Small joint hypermobilty HP:0430046 rdfs:label it Ipermobilità delle piccole articolazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Large joint hypermobilty HP:0430047 rdfs:label it Ipermobilità delle grandi articolazioni OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-thyroid antibody positivity HP:0430050 rdfs:label it Positività degli anticorpi anti-tiroide OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Positive Mycobacterium avium sputum culture HP:0430108 rdfs:label it Coltura dell'espettorato positiva per Mycobacterium avium OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Myopic astigmatism HP:0500041 rdfs:label it Astigmatismo miopico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Retinopathy of prematurity HP:0500049 rdfs:label it Retinopatia della prematurità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Peripapillary atrophy HP:0500087 rdfs:label it Atrofia peripapillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Food allergy HP:0500093 rdfs:label it Allergia alimentare CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypovalinemia HP:0500132 rdfs:label it Ipovalinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoleucinemia HP:0500143 rdfs:label it Ipoleucinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoisoleucinemia HP:0500144 rdfs:label it Ipoisoleucinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypoglutaminemia HP:0500147 rdfs:label it Ipoglutamminemia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Hypocystinemia HP:0500152 rdfs:label it Ipocistinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypergastrinemia HP:0500167 rdfs:label it Ipergastrinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Hypertaurinemia HP:0500181 rdfs:label it Ipertaurinemia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Decreased CSF glutamine concentration HP:0500198 rdfs:label it Ridotta concentrazione di glutammina nel liquor OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased CSF glutamate concentration HP:0500200 rdfs:label it Aumento della concentrazione di glutammato nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased CSF glycine concentration HP:0500230 rdfs:label it Aumento della concentrazione di glicina nel liquor CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atrichia HP:0500262 rdfs:label it Atrichia OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Increased proportion of CD8-positive, alpha-beta TEMRA T cells HP:0500265 rdfs:label it Aumentata proporzione di cellule T alfa-beta TEMRA CD8-positive CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased proportion of gamma-delta T cells HP:0500271 rdfs:label it Diminuzione della proporzione delle cellule T gamma-delta CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-integrin antibody positivity HP:4000025 rdfs:label it Positività degli anticorpi anti-integrine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-type VII collagen antibody HP:4000031 rdfs:label it Anticorpo anti-collagene di tipo VII OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Iliac artery aneurysm HP:4000067 rdfs:label it Aneurisma dell'arteria iliaca CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pronoun reversal HP:4000073 rdfs:label it Inversione pronominale OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Sensory seeking HP:4000079 rdfs:label it Ricerca sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Shark teeth HP:4000168 rdfs:label it Denti di squalo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Anti-platelet antigen antibody positivity HP:4000170 rdfs:label it Positività agli anticorpi antigene piastrinico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced erythrocyte porphobilinogen deaminase activity HP:4000199 rdfs:label it Ridotta attività della porfobilinogeno deaminasi negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity HP:4000208 rdfs:label it Ridotta attività della galattosio-1-fosfato uridiltransferasi negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Selective mutism HP:5200001 rdfs:label it Mutismo selettivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Steroetypic upper-extremity movements HP:5200018 rdfs:label it Movimenti stereotipati degli arti superiori CANDIDATE orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Social disinhibition HP:5200029 rdfs:label it Disinibizione sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Sensory behavioral abnormality HP:5200046 rdfs:label it Anomalia comportamentale sensoriale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Atypical sorting HP:5200049 rdfs:label it Ordinamento atipico CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal response to social norms HP:5200123 rdfs:label it Risposta anomala alle norme sociali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Aggression towards others HP:5200125 rdfs:label it Aggressività verso gli altri CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Insistence on sameness HP:5200130 rdfs:label it Insistenza nell'uniformità CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Phobia HP:5200232 rdfs:label it Fobia CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Abnormal affect HP:5200261 rdfs:label it Affetto anormale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diminishment of social interactions HP:5200310 rdfs:label it Diminuzione delle interazioni sociali CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Diminishment of relationship seeking HP:5200320 rdfs:label it Diminuzione della ricerca di relazioni CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Submucous cleft palate HP:5201016 rdfs:label it Palatoschisi sottomucosa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Social Anxiety HP:6000029 rdfs:label it Ansia sociale CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Pancreatic atrophy HP:6000156 rdfs:label it Atrofia pancreatica OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Absent otoacoustic emissions HP:6000182 rdfs:label it Emissioni otoacustiche assenti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts HP:6000199 rdfs:label it Ridotta attività della 3-beta-idrossisteroide-delta-5-desaturasi in fibroblasti in coltura CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Elevated circulating tumor necrosis factor alpha concentration HP:6000239 rdfs:label it Elevata concentrazione di fattore di necrosi tumorale alfa circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Decreased circulating thyroglobulin concentration HP:6000244 rdfs:label it Ridotta concentrazione di tireoglobulina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Forearm HP:6000299 rdfs:label it Avambraccio CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Incomplete right bundle branch block HP:6000313 rdfs:label it Blocco di branca destra incompleto CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Thickened mitral valve cusp HP:6000342 rdfs:label it Lembo valvolare mitralico ispessito OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Anti-intrinsic factor antibody positivity HP:6000344 rdfs:label it Positività degli anticorpi contro il fattore intrinseco CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Increased circulating interleukin 1beta concentration HP:6000374 rdfs:label it Aumentata concentrazione di interleuchina 1beta circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Ectopic testis HP:6000460 rdfs:label it Testicolo ectopico OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label it Elevata concentrazione di tetradecenoilcarnitina circolante OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Empty sella turcica HP:6000483 rdfs:label it Sella turcica vuota OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Impaired heel-walking ability HP:6000490 rdfs:label it Compromissione della capacità di camminare sui talloni OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Radioulnar subluxation HP:6000506 rdfs:label it Sublussazione radio-ulnare OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label it Elevata concentrazione di inosina trifosfato negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label it Ridotta attività dell'inosina trisosfatasi negli eritrociti OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated urinary coproporphyrin level HP:6000536 rdfs:label it Elevati livelli di coproporfirina nelle urine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Squamosal suture synostosis HP:6000612 rdfs:label it Sinostosi della sutura squamosa OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Elevated urinary L-glycerate level HP:6000670 rdfs:label it Elevati livelli di L-glicerato nelle urine OFFICIAL orcid:0000-0003-4174-0526 PHYSICIAN 2024-11-26 -en Left atrial fibrosis HP:6000691 rdfs:label it Fibrosi atriale sinistra CANDIDATE DeepL ALGORITHM preview 2024-05-08 -en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label it Ridotta concentrazione di NT-proANP circolante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb muscle weakness HP:0003484 rdfs:label it Debolezza muscolare degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb phocomelia HP:0009813 rdfs:label it Focomelia dell'arto superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb postural tremor HP:0007351 rdfs:label it Tremore posturale degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb spasticity HP:0006986 rdfs:label it Spasticità degli arti superiori CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upper limb undergrowth HP:0009824 rdfs:label it Crescita ridotta degli arti superiori CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Upper motor neuron dysfunction HP:0002493 rdfs:label it Disfunzione del motoneurone superiore CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Upslanted palpebral fissure HP:0000582 rdfs:label it Fessura palpebrale rovesciata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Uraciluria HP:0012127 rdfs:label it Uraciluria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ureteral duplication HP:0000073 rdfs:label it Duplicazione ureterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ureteropelvic junction obstruction HP:0000074 rdfs:label it Ostruzione della giunzione uretero-pelvica OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Urethral diverticulum HP:0008722 rdfs:label it Diverticolo uretrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Urinary incontinence HP:0000020 rdfs:label it Incontinenza urinaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Urinary retention HP:0000016 rdfs:label it Ritenzione urinaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Urinary urgency HP:0000012 rdfs:label it Urgenza urinaria OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Urticaria HP:0001025 rdfs:label it Orticaria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Usual interstitial pneumonia HP:0031950 rdfs:label it Polmonite interstiziale abituale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Uterine rupture HP:0100718 rdfs:label it Rottura uterina CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Uterus didelphys HP:0003762 rdfs:label it Utero didelfo OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Uveitis HP:0000554 rdfs:label it Uveite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Valvular pulmonary stenosis HP:0034350 rdfs:label it Stenosi polmonare valvolare OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Varicocele HP:0012871 rdfs:label it Varicocele CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Varicose veins HP:0002619 rdfs:label it Vene varicose CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vascular ring HP:0010775 rdfs:label it Anello vascolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vasculitis HP:0002633 rdfs:label it Vasculite CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vegetative state HP:0031358 rdfs:label it Stato vegetativo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Velopharyngeal insufficiency HP:0000220 rdfs:label it Insufficienza velofaringea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Venous insufficiency HP:0005293 rdfs:label it Insufficienza venosa OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ventilator dependence with inability to wean HP:0005946 rdfs:label it Dipendenza da ventilatore con incapacità di svezzamento CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventouse delivery HP:0011412 rdfs:label it Parto ventoso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventral hernia HP:0002933 rdfs:label it Ernia ventrale OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Ventricular arrhythmia HP:0004308 rdfs:label it Aritmia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventricular bigeminy HP:0034306 rdfs:label it Bigeminia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventricular escape rhythm HP:0005155 rdfs:label it Ritmo di fuga ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventricular fibrillation HP:0001663 rdfs:label it Fibrillazione ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventricular hypertrophy HP:0001714 rdfs:label it Ipertrofia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventricular septal defect HP:0001629 rdfs:label it Difetto del setto ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventricular tachycardia HP:0004756 rdfs:label it Tachicardia ventricolare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Ventriculomegaly HP:0002119 rdfs:label it Ventricolomegalia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Verrucae HP:0200043 rdfs:label it Verrucae CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertebral artery aneurysm HP:0034179 rdfs:label it Aneurisma dell'arteria vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertebral artery tortuosity HP:0033981 rdfs:label it Tortuosità dell'arteria vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertebral compression fracture HP:0002953 rdfs:label it Frattura da compressione vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertebral fusion HP:0002948 rdfs:label it Fusione vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertebral hypoplasia HP:0008417 rdfs:label it Ipoplasia vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertebral segmentation defect HP:0003422 rdfs:label it Difetto di segmentazione vertebrale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertical clivus HP:0010559 rdfs:label it Clivus verticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertical nystagmus HP:0010544 rdfs:label it Nistagmo verticale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertical supranuclear gaze palsy HP:0000511 rdfs:label it Paralisi verticale dello sguardo sopranucleare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vertigo HP:0002321 rdfs:label it Vertigini CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Very low visual acuity HP:0032122 rdfs:label it Acutezza visiva molto bassa CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Very severe constriction of peripheral visual field HP:0030527 rdfs:label it Costrizione molto grave del campo visivo periferico CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vesicoureteral reflux HP:0000076 rdfs:label it Reflusso vescicoureterale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Villous atrophy HP:0011473 rdfs:label it Atrofia dei villi intestinali OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Viral hepatitis HP:0006562 rdfs:label it Epatite virale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Visual field defect HP:0001123 rdfs:label it Difetto del campo visivo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Visual fixation instability HP:0025405 rdfs:label it Instabilità della fissazione visiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Visual hallucination HP:0002367 rdfs:label it Allucinazione visiva CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Visual impairment HP:0000505 rdfs:label it Disturbi della vista CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Visual loss HP:0000572 rdfs:label it Perdita della vista OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Vitiligo HP:0001045 rdfs:label it Vitiligine CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vitreous hemorrhage HP:0007902 rdfs:label it Emorragia vitrea CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vocal cord paralysis HP:0001605 rdfs:label it Paralisi delle corde vocali CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Volvulus HP:0002580 rdfs:label it Volvolo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Vomiting HP:0002013 rdfs:label it Vomito CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Waddling gait HP:0002515 rdfs:label it Andatura ondeggiante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Weak cry HP:0001612 rdfs:label it Grido debole CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Weak grip HP:0033466 rdfs:label it Presa debole CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Weak voice HP:0001621 rdfs:label it Voce debole CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Weakness of facial musculature HP:0030319 rdfs:label it Debolezza della muscolatura facciale CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Weakness of long finger extensor muscles HP:0009077 rdfs:label it Debolezza dei muscoli estensori lunghi delle dita della mano CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Weakness of orbicularis oculi muscle HP:0012507 rdfs:label it Debolezza del muscolo orbicolare dell'occhio OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Weakness of the intrinsic hand muscles HP:0009005 rdfs:label it Debolezza dei muscoli intrinseci della mano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Webbed neck HP:0000465 rdfs:label it Collo palmato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Weight loss HP:0001824 rdfs:label it Perdita di peso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Whistling appearance HP:0000346 rdfs:label it Aspetto fischiante CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en White eyebrow HP:0002226 rdfs:label it Sopracciglio bianco CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en White eyelashes HP:0002227 rdfs:label it Ciglia bianche CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en White scaling skin HP:0040190 rdfs:label it Pelle bianca desquamata CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Wide anterior fontanel HP:0000260 rdfs:label it Fontanella anteriore larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide cavum septum pellucidum HP:0034964 rdfs:label it Ampia cavità del setto pellucido CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide intermamillary distance HP:0006610 rdfs:label it Ampia distanza intermamillare CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide mouth HP:0000154 rdfs:label it Bocca larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide nasal base HP:0012810 rdfs:label it Base nasale ampia CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide nasal bridge HP:0000431 rdfs:label it Ponte nasale largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide nasal ridge HP:0012811 rdfs:label it Cresta nasale larga CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide nose HP:0000445 rdfs:label it Naso largo CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wide pubic symphysis HP:0003183 rdfs:label it Ampiezza della sinfisi pubica CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Widely spaced teeth HP:0000687 rdfs:label it Denti ampiamente distanziati CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Widely spaced toes HP:0008094 rdfs:label it Dita dei piedi ampiamente distanziate CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Widened atrophic scar HP:0031158 rdfs:label it Cicatrice atrofica allargata CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Widened cerebral subarachnoid space HP:0012766 rdfs:label it Spazio subaracnoideo cerebrale allargato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Widened subarachnoid space HP:0012704 rdfs:label it Spazio subaracnoideo allargato CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Widow's peak HP:0000349 rdfs:label it Picco della vedova CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Woolly scalp hair HP:0040149 rdfs:label it Capelli lanosi del cuoio capelluto CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wormian bones HP:0002645 rdfs:label it Ossa wormiane CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Wrist flexion contracture HP:0001239 rdfs:label it Contrazione della flessione del polso CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Writer's cramp HP:0002356 rdfs:label it Crampo dello scrivano OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Xanthelasma HP:0001114 rdfs:label it Xantelasma CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Xanthinuria HP:0010934 rdfs:label it Xantinuria CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Xanthomatosis HP:0000991 rdfs:label it Xantomatosi OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Y-shaped metacarpals HP:0006042 rdfs:label it Metacarpi a forma di Y CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Y-shaped metatarsals HP:0010567 rdfs:label it Metatarsali a forma di Y CANDIDATE DeepL ALGORITHM preview 2024-05-08 +en Yellow-brown discoloration of the teeth HP:0006286 rdfs:label it Colorazione giallo-marrone dei denti OFFICIAL orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 +en Z-band streaming HP:0020203 rdfs:label it Streaming della banda Z CANDIDATE orcid:0000-0003-4174-0526 DOMAIN_EXPERT 2024-11-26 diff --git a/babelon/hp-it.synonyms.tsv b/babelon/hp-it.synonyms.tsv index c07ab4f..7fc0ed0 100644 --- a/babelon/hp-it.synonyms.tsv +++ b/babelon/hp-it.synonyms.tsv @@ -1,23 +1,23 @@ -subject_id translation_value translator -ID AL oboInOwl:hasExactSynonym@it -HP:0002253 Diverticoli del colon orcid:0000-0003-4174-0526 -HP:0002253 Diverticolosi colica orcid:0000-0003-4174-0526 -HP:0002454 Segno dell'occhio di tigre (globo pallido) orcid:0000-0003-4174-0526 -HP:0002623 Aorta a cavaliere orcid:0000-0003-4174-0526 -HP:0002909 Aminoaciduria generalizzata orcid:0000-0003-4174-0526 -HP:0002356 Crampo dello scrittore orcid:0000-0003-4174-0526 -HP:0031627 Calcificazione del globo pallido orcid:0000-0003-4174-0526 -HP:0001919 Danno renale acuto orcid:0000-0003-4174-0526 -HP:0003320 Sublussazione C1-C2 orcid:0000-0003-4174-0526 -HP:0025383 Gibbo di bufalo orcid:0000-0003-4174-0526 -HP:0005272 Solco nasolabiale prominente orcid:0000-0003-4174-0526 -HP:0031354 Insonnia iniziale orcid:0000-0003-4174-0526 -HP:0033431 Colite da CMV orcid:0000-0003-4174-0526 -HP:0003698 Distasia orcid:0000-0003-4174-0526 -HP:0011265 Lobo auricolare bifido orcid:0000-0003-4174-0526 -HP:0000053 Macrorchidismo orcid:0000-0003-4174-0526 -HP:0007678 Stenosi del dotto nasolacrimale; Dacriostenosi orcid:0000-0003-4174-0526 -HP:0100647 Morbo di Basedow orcid:0000-0003-4174-0526 -HP:0033683 Riflesso mandibolare vivace orcid:0000-0003-4174-0526 -HP:0033683 Riflesso masseterino vivace orcid:0000-0003-4174-0526 -HP:0033683 Riflesso mentoniero vivace orcid:0000-0003-4174-0526 +subject_id translation_value translator +ID AL oboInOwl:hasExactSynonym@it >AI dc:contributor +HP:0000053 Macrorchidismo orcid:0000-0003-4174-0526 +HP:0001919 Danno renale acuto orcid:0000-0003-4174-0526 +HP:0002253 Diverticoli del colon orcid:0000-0003-4174-0526 +HP:0002253 Diverticolosi colica orcid:0000-0003-4174-0526 +HP:0002356 Crampo dello scrittore orcid:0000-0003-4174-0526 +HP:0002454 Segno dell'occhio di tigre (globo pallido) orcid:0000-0003-4174-0526 +HP:0002623 Aorta a cavaliere orcid:0000-0003-4174-0526 +HP:0002909 Aminoaciduria generalizzata orcid:0000-0003-4174-0526 +HP:0003320 Sublussazione C1-C2 orcid:0000-0003-4174-0526 +HP:0003698 Distasia orcid:0000-0003-4174-0526 +HP:0005272 Solco nasolabiale prominente orcid:0000-0003-4174-0526 +HP:0007678 Stenosi del dotto nasolacrimale; Dacriostenosi orcid:0000-0003-4174-0526 +HP:0011265 Lobo auricolare bifido orcid:0000-0003-4174-0526 +HP:0025383 Gibbo di bufalo orcid:0000-0003-4174-0526 +HP:0031354 Insonnia iniziale orcid:0000-0003-4174-0526 +HP:0031627 Calcificazione del globo pallido orcid:0000-0003-4174-0526 +HP:0033431 Colite da CMV orcid:0000-0003-4174-0526 +HP:0033683 Riflesso mandibolare vivace orcid:0000-0003-4174-0526 +HP:0033683 Riflesso masseterino vivace orcid:0000-0003-4174-0526 +HP:0033683 Riflesso mentoniero vivace orcid:0000-0003-4174-0526 +HP:0100647 Morbo di Basedow orcid:0000-0003-4174-0526