Details of Disease

General Information of Disease (ID: DISDUJB9)

Disease Name Camptosynpolydactyly, complex
Synonyms camptopolydactyly, disorganization type; camptopolydactyly, disorganisation type; CCSPD; camptosynpolydactyly, complex
Disease Hierarchy
DISYKSRF: Genetic disease
DISDUJB9: Camptosynpolydactyly, complex
Disease Identifiers
MONDO ID
MONDO_0011853
MESH ID
C564383
UMLS CUI
C1843758
OMIM ID
607539
MedGen ID
375276

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
BHLHA9 OT80XOJB Limited Autosomal recessive [1]
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References

1 Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. Am J Med Genet A. 2016 Jun;170(6):1622-5. doi: 10.1002/ajmg.a.37643. Epub 2016 Apr 4.