Details of Disease

General Information of Disease (ID: DISVYROI)

Disease Name Spondyloepiphyseal dysplasia, Kimberley type
Synonyms SEDK; Sedk; spondyloepiphyseal dysplasia, Kimberley type
Definition Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISVYROI: Spondyloepiphyseal dysplasia, Kimberley type
Disease Identifiers
MONDO ID
MONDO_0012019
MESH ID
C564252
UMLS CUI
C1842149
OMIM ID
608361
MedGen ID
330777
Orphanet ID
93283
SNOMED CT ID
719203001

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
ACAN OTUOCW8K Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.