Details of Disease

General Information of Disease (ID: DISUW3F5)

Disease Name Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Synonyms OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD
Disease Hierarchy
DISYKSRF: Genetic disease
DISUW3F5: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Disease Identifiers
MONDO ID
MONDO_0032574
UMLS CUI
C4748496
OMIM ID
618167
MedGen ID
1648332

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
CHST11 OTNJJ5Q1 Strong Autosomal recessive [1]
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References

1 Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development. 2005 Sep;132(17):3989-4003. doi: 10.1242/dev.01948. Epub 2005 Aug 3.