Details of Disease

General Information of Disease (ID: DISX4K0R)

Disease Name Meier-Gorlin syndrome 7
Synonyms Meier-Gorlin syndrome 7; CDC45 Meier-Gorlin syndrome; Meier-Gorlin syndrome 7; MGORS7; Meier-Gorlin syndrome caused by mutation in CDC45; MGORS7; Meier-Gorlin syndrome type 7
Definition Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.
Disease Hierarchy
DISCFIU3: Meier-Gorlin syndrome
DISX4K0R: Meier-Gorlin syndrome 7
Disease Identifiers
MONDO ID
MONDO_0014894
UMLS CUI
C4310738
OMIM ID
617063
MedGen ID
934705

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
CDC45 OT6NNLOD 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.