loading...| Preferred Name |
Hartnup disease |
| Synonyms |
Neutral 1 amino acid transport defect |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1060 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:234500 UMLS_CUI:C0018609 ICD10CM:E72.02 SNOMEDCT_US_2022_09_01:80902009 GARD:6569 NCI:C84748 MESH:D006250 |
| definition |
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. |
| has exact synonym |
Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect |
| has_obo_namespace |
disease_ontology |
| id |
DOID:1060 |
| in_subset | |
| label |
Hartnup disease |
| notation |
DOID:1060 |
| prefLabel |
Hartnup disease |
| subClassOf |