Details of Disease

General Information of Disease (ID: DIS5W9R0)

Disease Name Meier-Gorlin syndrome 3
Synonyms Meier-GORLIN syndrome 3; MGORS3; Meier-Gorlin syndrome caused by mutation in ORC6; Meier-Gorlin syndrome 3; ORC6 Meier-Gorlin syndrome; Meier-Gorlin syndrome type 3
Definition Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.
Disease Hierarchy
DISCFIU3: Meier-Gorlin syndrome
DIS5W9R0: Meier-Gorlin syndrome 3
Disease Identifiers
MONDO ID
MONDO_0013430
UMLS CUI
C3151113
OMIM ID
613803
MedGen ID
462463

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
ORC6 OTKQN3KP Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.