Details of Disease

General Information of Disease (ID: DISD9O8G)

Disease Name Complex lethal osteochondrodysplasia
Synonyms
osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type; osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type; OCLSBG; Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISD9O8G: Complex lethal osteochondrodysplasia
Disease Identifiers
MONDO ID
MONDO_0014821
UMLS CUI
C4225162
OMIM ID
616897
MedGen ID
900688
Orphanet ID
457378
SNOMED CT ID
1228858000

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
TAPT1 OT3Z51KH Strong Autosomal recessive [1]
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References

1 Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. Genetics. 2007 Feb;175(2):699-707. doi: 10.1534/genetics.106.065177. Epub 2006 Dec 6.