Details of Disease

General Information of Disease (ID: DISTWCTG)

Disease Name Meier-Gorlin syndrome 2
Synonyms Meier-GORLIN syndrome 2; MGORS2; Meier-Gorlin syndrome type 2; Meier-Gorlin syndrome caused by mutation in ORC4; Meier-Gorlin syndrome 2; ORC4 Meier-Gorlin syndrome
Definition Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.
Disease Hierarchy
DISCFIU3: Meier-Gorlin syndrome
DISTWCTG: Meier-Gorlin syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013428
UMLS CUI
C3151097
OMIM ID
613800
MedGen ID
462447

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
ORC4 OT3ACTST 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.