Details of Disease | DrugMAP

General Information of Disease (ID: DISGGEUO)

Disease Name	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Synonyms	metaphyseal chondrodysplasia with retinitis pigmentosa; RPSKA; brachydactyly-short stature-retinitis pigmentosa syndrome; retinitis pigmentosa with or without skeletal anomalies
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS9SPWW: Osteochondrodysplasia DIS5Z8U6: Skeletal dysplasia DISGGEUO: Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Disease Identifiers	MONDO ID MONDO_0009598 MESH ID C565398 UMLS CUI C1855188 OMIM ID 250410 MedGen ID 381579 Orphanet ID 166035

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
CWC27	OTB0HBP1	Definitive	Autosomal recessive	[1]
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References

1	Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.