Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
increased risk of osteosarcoma
|
| gptkbp:characterizedBy |
diarrhea
short stature limb malformations sparse hair poikiloderma cleft or highly arched palate nasal bridge hypoplasia patellar hypoplasia radial ray defects |
| gptkbp:firstDescribed |
1973
|
| https://www.w3.org/2000/01/rdf-schema#label |
Rapadilino syndrome
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:RECQL4_gene
|
| gptkbp:namedAfter |
Radial hypoplasia, Patellae aplasia or hypoplasia, Diarrhea, Dislocated joints, Little size, Limb malformation, Nose slender, Normal intelligence
|
| gptkbp:OMIM |
266280
|
| gptkbp:prevalence |
very rare
|
| gptkbp:synonym |
gptkb:RAPADILINO_syndrome
RAPA syndrome |
| gptkbp:bfsParent |
gptkb:RECQL4
|
| gptkbp:bfsLayer |
7
|