Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
cardiovascular system
integumentary system musculoskeletal system |
| gptkbp:alternativeName |
gptkb:AOS
|
| gptkbp:associatedWith |
gptkb:NOTCH1
gptkb:RBPJ DOCK6 ARHGAP31 EOGT |
| gptkbp:firstDescribed |
1945
C. R. Adams F. P. Oliver |
| gptkbp:hasOrphanetID |
52
|
| https://www.w3.org/2000/01/rdf-schema#label |
Adams-Oliver syndrome
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
100300
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
congenital heart defects
vascular anomalies limb defects cutis aplasia scalp defects |
| gptkbp:bfsParent |
gptkb:human_NOTCH1_gene
gptkb:NOTCH1 |
| gptkbp:bfsLayer |
7
|