loading...| Preferred Name |
tyrosinemia |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0004741 |
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| database_cross_reference |
NCIT:C98640 OMIMPS:276700 ICD9:270.2 ICD10:E70.21 MESH:D020176 DOID:9275 UMLS:C0268483 SCTID:190694001 |
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| disease has basis in disruption of | ||
| exactMatch |
http://purl.obolibrary.org/obo/DOID_9275 http://purl.obolibrary.org/obo/NCIT_C98640 http://linkedlifedata.com/resource/umls/id/C0268483 |
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| id |
MONDO:0004741 |
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| imported from | ||
| label |
tyrosinemia |
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| notation |
MONDO:0004741 |
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| prefLabel |
tyrosinemia |
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| textual 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. |
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| subClassOf |