Details of Disease | DrugMAP

General Information of Disease (ID: DISJHGAP)

Disease Name	Chudley-McCullough syndrome
Synonyms	deafness, autosomal recessive 82; CMCS; deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction; deafness, autosomal recessive 82, formerly; deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts; Chudley-McCullough syndrome
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISYKSRF: Genetic disease DISJHGAP: Chudley-McCullough syndrome
Disease Identifiers	MONDO ID MONDO_0011411 MESH ID C535459 UMLS CUI C1858695 OMIM ID 604213 MedGen ID 347699 Orphanet ID 314597 SNOMED CT ID 773610007

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
GPSM2	OT6RPMRM	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.