Hartnup Disease
Disease ID: disease_node_3669
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| Dbxref | GARD:6569, ICD10CM:E72.02, MESH:D006250, MIM:234500, NCI:C84748, SNOMEDCT_US_2023_03_01:80902009, UMLS_CUI:C0018609 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID, MESH |
| Synonyms | Neutral 1 amino acid transport defect, deficiency of tryptophan oxygenase, neutral amino acid transport defect |
| Mesh Id | D006250 |
| Mesh Label | Hartnup Disease |
| Mesh Subclassof | D000608, D020157, D020739 |
| Doid Label | Hartnup disease |
| Doid Description | An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. OMIM mapping confirmed by DO. [SN]. |
| Has Phenotype | HP_0003355 |
| Disease Node Id | disease_node_3669 |
| Doid Id | DOID_1060 |
| Label | Hartnup Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)