Details of Disease

General Information of Disease (ID: DISG0S0K)

Disease Name Atelosteogenesis type III
Synonyms Aoiii; atelosteogenesis, type 3; atelosteogenesis, type III; AOIII; AO3; atelosteogenesis type 3
Definition A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Disease Hierarchy
DISP0R2U: Filamin-related bone disorder
DISOAHZ2: Atelosteogenesis
DISG0S0K: Atelosteogenesis type III
Disease Identifiers
MONDO ID
MONDO_0007168
MESH ID
C579928
UMLS CUI
C3668942
OMIM ID
108721
MedGen ID
777149
Orphanet ID
56305
SNOMED CT ID
725142004

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
FLNB OTPCOYL6 Definitive Autosomal dominant [1]
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References

1 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.