Details of Disease

General Information of Disease (ID: DIS245AL)

Disease Name Baller-Gerold syndrome
Synonyms craniosynostosis with radial defects; craniosynostosis-radial aplasia syndrome; BALLER-Gerold syndrome; BGS; Baller-Gerold syndrome
Definition
Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
Disease Hierarchy
DISEUVBK: Syndromic craniosynostosis
DIS245AL: Baller-Gerold syndrome
Disease Identifiers
MONDO ID
MONDO_0009039
MESH ID
C536788
UMLS CUI
C0265308
OMIM ID
218600
MedGen ID
120532
Orphanet ID
1225
SNOMED CT ID
77608001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RECQL4 OT59LSW7 Definitive Autosomal recessive [1]
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References

1 Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics. 1998 Dec 15;54(3):443-52. doi: 10.1006/geno.1998.5595.