Details of Disease

General Information of Disease (ID: DISJ0HYK)

Disease Name Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Synonyms SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
Disease Hierarchy
DISYKSRF: Genetic disease
DISJ0HYK: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Disease Identifiers
MONDO ID
MONDO_0032885
UMLS CUI
C5231478
OMIM ID
618728
MedGen ID
1684771

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
RPL13 OTFKNTD6 Strong Autosomal dominant [1]
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References

1 RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17.