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tyrosinemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0004741

An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. [ NCIT:P378 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D020176 (MONDO:equivalentTo)
  • ICD9:270.2 (MONDO:relatedTo)
  • DOID:9275 (MONDO:equivalentTo)
  • NCIT:C98640 (MONDO:equivalentTo)
  • OMIMPS:276700 (MONDO:equivalentTo)
  • ICD10CM:E70.21 (MONDO:equivalentTo)
  • SCTID:190694001 (MONDO:equivalentTo)
  • UMLS:C0268483 (NCIT:C98640)
Subsets

rare, inferred_rare

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/E70.21

http://purl.obolibrary.org/obo/NCIT_C98640

http://identifiers.org/mesh/D020176

http://linkedlifedata.com/resource/umls/id/C0268483

http://identifiers.org/snomedct/190694001

https://omim.org/phenotypicSeries/PS276700

http://purl.obolibrary.org/obo/DOID_9275

id

MONDO:0004741

Term relations