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tyrosinemia that has material basis in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body

AttributesValues
rdf:type
description
  • Krankheit (de)
  • хвороба (uk)
  • tyrosinemia that has material basis in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body (en)
  • forma severa de tirosinemia causada por la deficiencia de la enzima fumarilacetoacetato hidrolasa (es)
exact match
exact match
health specialty
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
ICD-10
  • E70.2
Mondo ID
  • MONDO_0010161
DiseasesDB
  • 13478
Disease Ontology ID
  • DOID:0050726
rdfs:label
  • Tirosinemia tipo 1 (es)
  • Tyrosinämie Typ I (de)
  • tyrosinemi typ 1 (sv)
  • tyrosinemia type I (en)
  • tyrosinémie type 1 (fr)
  • Тирозинемија тип I (mk)
  • تیروزینمی نوع یک (fa)
  • فرط تيروزين الدم I (ar)
  • 第一型酪胺酸血症 (zh)
  • 第一型酪胺酸血症 (zh-cn)
  • 第一型酪胺酸血症 (zh-hans)
  • 第一型酪胺酸血癥 (zh-hant)
  • 高チロシン血症1型 (ja)
skos:prefLabel
  • Tirosinemia tipo 1 (es)
  • Tyrosinämie Typ I (de)
  • tyrosinemi typ 1 (sv)
  • tyrosinemia type I (en)
  • tyrosinémie type 1 (fr)
  • Тирозинемија тип I (mk)
  • تیروزینمی نوع یک (fa)
  • فرط تيروزين الدم I (ar)
  • 第一型酪胺酸血症 (zh)
  • 第一型酪胺酸血症 (zh-cn)
  • 第一型酪胺酸血症 (zh-hans)
  • 第一型酪胺酸血癥 (zh-hant)
  • 高チロシン血症1型 (ja)
name
  • Tirosinemia tipo 1 (es)
  • Tyrosinämie Typ I (de)
  • tyrosinemi typ 1 (sv)
  • tyrosinemia type I (en)
  • tyrosinémie type 1 (fr)
  • Тирозинемија тип I (mk)
  • تیروزینمی نوع یک (fa)
  • فرط تيروزين الدم I (ar)
  • 第一型酪胺酸血症 (zh)
  • 第一型酪胺酸血症 (zh-cn)
  • 第一型酪胺酸血症 (zh-hans)
  • 第一型酪胺酸血癥 (zh-hant)
  • 高チロシン血症1型 (ja)
Freebase ID
Freebase ID
  • /m/047lb98
instance of
instance of
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-01107
Orphanet ID
  • 882
genetic association
PatientsLikeMe condition ID
  • tyrosinemia-type-i
GARD rare disease ID
  • 2658
OMIM ID
  • 276700
ICD-9 ID
ICD-9 ID
  • 270.2
skos:altLabel
  • Hereditary tyrosinemia, Type I (en)
  • High tyrosinemia type 1 (en)
  • Hypertyrosinemia type I (en)
  • TYRSN1 (en)
  • Tyrosinemia I (en)
  • hepatorenal tyrosinemia (en)
NCI Thesaurus ID
on focus list of Wikimedia project
Microsoft Academic ID
ICD-11 ID (MMS)
ICD-11 (foundation)
Microsoft Academic ID
NCI Thesaurus ID
  • C98641
on focus list of Wikimedia project
Microsoft Academic ID
  • 2776022542
ICD-11 ID (MMS)
  • 5C50.11
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