Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease identifier
|
| gptkbp:associatedWith |
Alkaptonuria
|
| gptkbp:containsGene |
gptkb:HGD
|
| gptkbp:hasClinicalFeature |
arthritis
dark urine cardiac valve involvement ochronosis pigmentation of connective tissues renal stones |
| gptkbp:hasDiseaseCategory |
inborn error of metabolism
|
| gptkbp:hasOrphanetID |
526
|
| https://www.w3.org/2000/01/rdf-schema#label |
Orphanet 526
|
| gptkbp:ICD-10_code |
E70.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
203500
|
| gptkbp:prevalence |
ultra-rare
|
| gptkbp:refersTo |
Alkaptonuria
|
| gptkbp:synonym |
gptkb:AKU
Alcaptonuria Homogentisic acid oxidase deficiency |
| gptkbp:usedIn |
Orphanet database
|
| gptkbp:bfsParent |
gptkb:P0CG47
|
| gptkbp:bfsLayer |
7
|