Details of Disease

General Information of Disease (ID: DIST0BJH)

Disease Name Adams-Oliver syndrome 4
Synonyms AOS4; EOGT Adams-Oliver syndrome; Adams-Oliver syndrome type 4; Adams-Oliver syndrome caused by mutation in EOGT; Adams-Oliver syndrome 4
Definition Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISQO525: Adams-Oliver syndrome
DIST0BJH: Adams-Oliver syndrome 4
Disease Identifiers
MONDO ID
MONDO_0014124
UMLS CUI
C3809092
OMIM ID
615297
MedGen ID
815422

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
EOGT OT4A2A8P Strong Autosomal recessive [1]
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References

1 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21.