Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
autosomal recessive disease
metabolic disorder |
| gptkbp:affects |
intestinal mucosa
neutral amino acid transport renal tubules |
| gptkbp:causedBy |
mutation in SLC6A19 gene
|
| gptkbp:diagnosedBy |
urine amino acid analysis
|
| gptkbp:firstDescribed |
1956
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hartnup disorder
|
| gptkbp:ICD-10_code |
E72.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Hartnup family
|
| gptkbp:OMIM |
234500
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
ataxia
psychiatric symptoms aminoaciduria pellagra-like rash |
| gptkbp:treatment |
high-protein diet
nicotinamide |
| gptkbp:bfsParent |
gptkb:SLC6A19
gptkb:SLC6A59 gptkb:SLC7A19 |
| gptkbp:bfsLayer |
7
|