Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
cardiovascular system
integumentary system skeletal system |
| gptkbp:alsoKnownAs |
hypertrichotic osteochondrodysplasia
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1982
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cantú syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
ABCC9 gene
KCNJ8 gene |
| gptkbp:namedAfter |
J. M. Cantú
|
| gptkbp:OMIM |
239850
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
gptkb:hypertrichosis
edema macrocephaly coarse facial features osteochondrodysplasia cardiomegaly |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:ABCC9
|
| gptkbp:bfsLayer |
7
|