loading...| Preferred Name |
Hartnup disease |
|
| Synonyms |
neutral amino acid transport defect |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1060 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
UMLS_CUI:C0018609 MESH:D006250 OMIM:234500 SNOMEDCT_US_2023_03_01:80902009 ICD10CM:E72.02 GARD:6569 NCI:C84748 |
|
| 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 amino acid transport defect deficiency of tryptophan oxygenase Neutral 1 amino acid transport defect |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1060 |
|
| in_subset | ||
| label |
Hartnup disease |
|
| notation |
DOID:1060 |
|
| prefLabel |
Hartnup disease |
|
| subClassOf |