Details of Disease

General Information of Disease (ID: DIS1FFAU)

Disease Name Jaberi-Elahi syndrome
Synonyms JABELS; Jaberi-Elahi syndrome
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DIS1FFAU: Jaberi-Elahi syndrome
Disease Identifiers
MONDO ID
MONDO_0060711
UMLS CUI
C4693848
OMIM ID
617988
MedGen ID
1647359

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
GTPBP2 OTOJ1KUA Definitive Autosomal recessive [1]
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References

1 Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature. Clin Genet. 2019 May;95(5):601-606. doi: 10.1111/cge.13523. Epub 2019 Mar 19.