tyrosinemia type II

tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels

Wikidata entity: Q7484623



P927 anatomical location ... Q9368 (liver) liver
P927 anatomical location ... Q30029801 (zone of skin) zone of skin
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P1325 external data available at URL Url None ???
P2293 genetic association ... Q18298361 (TAT) TAT
P6532 has phenotype ... Q3317827 (disability affecting intellectual abilities) disability affecting intellectual abilities
P6532 has phenotype ... Q7128426 (palmoplantar keratosis) palmoplantar keratosis
P6532 has phenotype ... Q39209282 (???) ???
P1995 health specialty ... Q162606 (endocrinology) endocrinology
P1995 health specialty ... Q83042 (neurology) neurology
P1995 health specialty ... Q1071953 (medical genetics) medical genetics
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q42303753 (designated intractable/rare disease) designated intractable/rare disease
P1748 NCI Thesaurus ID String C129032 ???
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q949302 (skin disease) skin disease
P279 subclass of ... Q929737 (liver disease) liver disease
P279 subclass of ... Q1122668 (tyrosinemia) tyrosinemia

External Ids
P699Disease Ontology IDDOID:0050725
P557DiseasesDB13486
P4317GARD rare disease ID3105
P494ICD-10 IDE70.2
P7807ICD-11 ID (Foundation)1900229795
P7329ICD-11 ID (MMS)5C50.12
P493ICD-9 ID270.2
P6366Microsoft Academic ID (discontinued)2776374240
P5270Mondo IDMONDO_0010160
P492OMIM ID276600
P492OMIM ID276600
P1550Orphanet ID28378
P4233PatientsLikeMe condition IDtyrosinemia-type-ii
P11430UniProt disease IDDI-01108

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