Details of Disease

General Information of Disease (ID: DISN2QMB)

Disease Name Spondyloepimetaphyseal dysplasia, Shohat type
Synonyms SEMDSH; spondyloepimetaphyseal dysplasia Shohat type; SEMD Shohat type; spondyloepimetaphyseal dysplasia, Shohat type; SEMD, Shohat type
Definition
A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Disease Hierarchy
DISO4L5A: Spondyloepimetaphyseal dysplasia
DISN2QMB: Spondyloepimetaphyseal dysplasia, Shohat type
Disease Identifiers
MONDO ID
MONDO_0011252
MESH ID
C566523
UMLS CUI
C1865185
OMIM ID
602557
MedGen ID
400703
Orphanet ID
93352
SNOMED CT ID
719201004

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
DDRGK1 OT3KCK0U Strong Autosomal recessive [1]
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References

1 Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 3;127(4):1475-1484. doi: 10.1172/JCI90193. Epub 2017 Mar 6.