Switch to
Predicate | Object |
---|---|
rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: A condition in which both ends of chromosome 15 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Common clinical findings include growth retardation, triangular expressionless face, hypertelorism, slightly receding mandible, malformed ears, short neck, brachymesophalangy, hypogonadism, small hands and feet, mental retardation, and other disorders.
|
skos:inScheme | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |