Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gastrointestinal symptoms
growth retardation craniofacial anomalies |
| gptkbp:characterizedBy |
diarrhea
limb malformations normal intelligence nasal anomalies dislocated joints little size (short stature) osteosarcoma risk patellar aplasia or hypoplasia radial ray defects |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2000
|
| https://www.w3.org/2000/01/rdf-schema#label |
RAPADILINO syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:RECQL4_gene
|
| gptkbp:namedAfter |
acronym for Radial hypoplasia, Patellae aplasia or hypoplasia, Diarrhea, Dislocated joints, Little size, Limb malformations, Nose slender, Normal intelligence
|
| gptkbp:OMIM |
266280
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
symptomatic and supportive
|
| gptkbp:bfsParent |
gptkb:RECQL4_(human)
|
| gptkbp:bfsLayer |
7
|