JSON

tyrosinemia

^ 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 ]

Term info

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

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.

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