Details of Disease

General Information of Disease (ID: DISXGFBC)

Disease Name Meier-Gorlin syndrome 5
Synonyms Meier-GORLIN syndrome 5; MGORS5; CDC6 Meier-Gorlin syndrome; Meier-Gorlin syndrome 5; Meier-Gorlin syndrome caused by mutation in CDC6; Meier-Gorlin syndrome type 5
Definition Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.
Disease Hierarchy
DISCFIU3: Meier-Gorlin syndrome
DISXGFBC: Meier-Gorlin syndrome 5
Disease Identifiers
MONDO ID
MONDO_0013432
UMLS CUI
C3151126
OMIM ID
613805
MedGen ID
462476

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
CDC6 OTX93FE7 Definitive Autosomal recessive [1]
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References

1 Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452.