Alkaptonuria
Disease ID: disease_node_1119
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| Dbxref | GARD:5775, ICD10CM:E70.29, MESH:D000474, MIM:203500, NCI:C84546, ORDO:56, SNOMEDCT_US_2023_03_01:24250001, UMLS_CUI:C0002066 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID, MESH |
| Synonyms | Homogentisate 1,2-dioxygenase deficiency, alcaptonuria, deficiency of homogentisicase |
| Mesh Id | D000474 |
| Mesh Label | Alkaptonuria |
| Mesh Subclassof | D000592 |
| Doid Label | alkaptonuria |
| Doid Description | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_1119 |
| Doid Id | DOID_9270 |
| Label | Alkaptonuria |
| Doid Alternate Ids | DOID_0050714 |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)