Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

tyrosinemia type I
Synonyms

fumarylacetoacetate hydrolase deficiency

FAH deficiency

fumarylacetoacetase deficiency

tyrosinemia type I

type I tyrosinemia

hepatorenal tyrosinemia

tyrosinemia, type 1

TYRSN1

tyrosinemia, type I

tyrosinemia type 1

Fah deficiency
Definitions

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
ID

http://purl.obolibrary.org/obo/MONDO_0010161
closeMatch

http://linkedlifedata.com/resource/umls/id/C1414525
database_cross_reference

GARD:0002658

Orphanet:882

SCTID:410056006

UMLS:C0268490

OMIM:276700

MedDRA:10069462

ICD10:E70.2

DOID:0050726

NCIT:C98641
disease has basis in dysfunction of

http://identifiers.org/hgnc/3579
disease has feature

http://purl.obolibrary.org/obo/HP_0003231
exactMatch

http://linkedlifedata.com/resource/umls/id/C0268490

http://identifiers.org/snomedct/410056006

http://identifiers.org/meddra/10069462

http://identifiers.org/omim/276700

http://www.orpha.net/ORDO/Orphanet_882

http://purl.obolibrary.org/obo/NCIT_C98641

http://purl.obolibrary.org/obo/DOID_0050726
has exact synonym

fumarylacetoacetate hydrolase deficiency

FAH deficiency

fumarylacetoacetase deficiency

tyrosinemia type I

type I tyrosinemia

hepatorenal tyrosinemia
has related synonym

tyrosinemia, type 1

TYRSN1

tyrosinemia, type I

tyrosinemia type 1

Fah deficiency
id

MONDO:0010161
imported from

http://purl.obolibrary.org/obo/mondo.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare
label

tyrosinemia type I
notation

MONDO:0010161
prefLabel

tyrosinemia type I
see also

https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1
textual definition

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0004741

http://purl.obolibrary.org/obo/MONDO_0015945

http://purl.obolibrary.org/obo/MONDO_0016133

http://purl.obolibrary.org/obo/MONDO_0019743
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