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tyrosinemia type I

Go to external page http://purl.obolibrary.org/obo/MONDO_0010161

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. [ Orphanet:882 ]

Synonyms: type I tyrosinemia hepatorenal tyrosinemia fumarylacetoacetate hydrolase deficiency tyrosinemia type I fumarylacetoacetase deficiency FAH deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1811 (MONDO:NORD)
  • Orphanet:882 (OMIM:276700)
  • DOID:0050726 (MONDO:equivalentTo)
  • GARD:2658 (Orphanet:882)
  • MedDRA:10069462 (Orphanet:882/e)
  • OMIM:276700 (Orphanet:882/e)
  • UMLS:C0268490 (Orphanet:882/e)
  • NCIT:C98641 (MONDO:equivalentTo)
  • SCTID:410056006 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

closeMatch

http://identifiers.org/meddra/10069462

exactMatch

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

http://purl.obolibrary.org/obo/DOID_0050726

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

https://omim.org/entry/276700

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

http://identifiers.org/snomedct/410056006

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020127

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

has related synonym

tyrosinemia, type 1

Fah deficiency

TYRSN1

tyrosinemia, type I

tyrosinemia type 1

id

MONDO:0010161

seeAlso

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

https://search.clinicalgenome.org/kb/conditions/MONDO:0010161

Term relations

Subclass of: