Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
rare disease
|
gptkbp:affects |
gptkb:nervous_system
skeletal system |
gptkbp:causedBy |
mutations in RECQL4 gene
|
gptkbp:firstDescribed |
1950
|
gptkbp:frequency |
very rare
|
gptkbp:hasOrphanetID |
ORPHA:138
|
https://www.w3.org/2000/01/rdf-schema#label |
Baller-Gerold syndrome
|
gptkbp:ICD-10_code |
Q87.2
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:namedAfter |
Felix Baller
M. Gerold |
gptkbp:OMIM |
218600
|
gptkbp:symptom |
short stature
developmental delay craniosynostosis radial aplasia |
gptkbp:synonym |
craniosynostosis with radial aplasia
|
gptkbp:treatment |
supportive care
surgical intervention |
gptkbp:bfsParent |
gptkb:RECQL4
gptkb:RECQL4_(human) |
gptkbp:bfsLayer |
7
|