Details of Disease

General Information of Disease (ID: DISLRVIC)

Disease Name Dysspondyloenchondromatosis
Definition
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISLRVIC: Dysspondyloenchondromatosis
Disease Identifiers
MONDO ID
MONDO_0019412
UMLS CUI
C4302548
MedGen ID
928217
Orphanet ID
85198
SNOMED CT ID
722434004

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
COL2A1 OT5E59C8 Supportive Autosomal dominant [1]
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References

1 Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?. Mol Syndromol. 2011 Dec;2(1):21-26. doi: 10.1159/000333098. Epub 2011 Oct 18.