Details of Disease

General Information of Disease (ID: DIS4Q0EA)

Disease Name Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Synonyms SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type; SEMDJL3
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DIS94DW9: Spondyloepimetaphyseal dysplasia with joint laxity
DIS4Q0EA: Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Disease Identifiers
MONDO ID
MONDO_0032724
UMLS CUI
C5193073
OMIM ID
618395
MedGen ID
1677378

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
EXOC6B OTFI1IPG Strong Autosomal recessive [1]
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References

1 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16.