Details of Disease

General Information of Disease (ID: DISC06NY)

Disease Name Retinitis pigmentosa 76
Synonyms retinitis pigmentosa caused by mutation in POMGNT1; retinitis pigmentosa 76; POMGNT1 retinitis pigmentosa; retinitis pigmentosa 76; RP76; RP76; retinitis pigmentosa type 76
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISC06NY: Retinitis pigmentosa 76
Disease Identifiers
MONDO ID
MONDO_0014929
UMLS CUI
C4310704
OMIM ID
617123
MedGen ID
934671

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
POMGNT1 OTBNOUZC Strong Autosomal recessive [1]
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References

1 Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043.