Details of Disease | DrugMAP

General Information of Disease (ID: DISEGMKF)

Disease Name	Chorea, childhood-onset, with psychomotor retardation
Synonyms	chorea, childhood-onset, with psychomotor retardation; COCPMR; COCPMR; chorea, childhood-onset, with psychomotor retardation
Disease Hierarchy	DISYKSRF: Genetic disease DISEGMKF: Chorea, childhood-onset, with psychomotor retardation
Disease Identifiers	MONDO ID MONDO_0014839 UMLS CUI C4310787 OMIM ID 616939 MedGen ID 934754

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPR88	TTMRQY1	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPR88	OTGAT70V	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.