loading...| Preferred Name |
tyrosinemia |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0004741 |
| database_cross_reference |
ICD10CM:E70.21 DOID:9275 MESH:D020176 SCTID:190694001 ICD9:270.2 OMIMPS:276700 UMLS:C0268483 NCIT:C98640 |
| 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.obolibrary.org/obo/DOID_9275 http://linkedlifedata.com/resource/umls/id/C0268483 http://purl.bioontology.org/ontology/ICD10CM/E70.21 https://omim.org/phenotypicSeries/PS276700 http://identifiers.org/snomedct/190694001 |
| id |
MONDO:0004741 |
| label |
tyrosinemia |
| notation |
MONDO:0004741 |
| prefLabel |
tyrosinemia |
| treeView | |
| subClassOf |