Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:accumulationOf |
homogentisic acid
|
| gptkbp:affects |
gptkb:skeletal_muscle
kidneys collagen heart valves |
| gptkbp:alsoKnownAs |
black urine disease
|
| gptkbp:biochemicalDefect |
deficiency of homogentisate 1,2-dioxygenase
|
| gptkbp:category |
rare disease
inborn error of metabolism |
| gptkbp:causedBy |
mutation in HGD gene
|
| gptkbp:diagnosedBy |
urine organic acid analysis
|
| gptkbp:firstDescribed |
gptkb:Archibald_Garrod
1902 |
| https://www.w3.org/2000/01/rdf-schema#label |
alkaptonuria
|
| gptkbp:ICD-10_code |
E70.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D000437
|
| gptkbp:OMIM |
203500
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
arthritis
kidney stones ochronosis darkening of urine |
| gptkbp:treatment |
pain management
low-protein diet nitisinone |
| gptkbp:bfsParent |
gptkb:HGD
|
| gptkbp:bfsLayer |
7
|