Switch to
Predicate | Object |
---|---|
rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: Craniosynostosis with craniofacial dysmorphism, finger and toe abnormalities, heart defects, growth retardation, and other disorders.,NCI: An extremely rare autosomal recessive inherited syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
|
skos:inScheme | |
skos-xl:prefLabel | |
skos-xl:altLabel |