Details of Disease

General Information of Disease (ID: DISVOK8N)

Disease Name Skeletal dysplasia, mild, with joint laxity and advanced bone age
Synonyms skeletal dysplasia, mild, with joint laxity and advanced bone age; SDJLABA; SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Disease Hierarchy
DISYKSRF: Genetic disease
DISVOK8N: Skeletal dysplasia, mild, with joint laxity and advanced bone age
Disease Identifiers
MONDO ID
MONDO_0030029
UMLS CUI
C5394341
OMIM ID
618870
MedGen ID
1711043

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
CSGALNACT1 OTBML9D9 Strong Autosomal recessive [1]
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References

1 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolism. J Biol Chem. 2011 Feb 18;286(7):5803-12. doi: 10.1074/jbc.M110.159244. Epub 2010 Dec 10.