Retinitis pigmentosa 76

Preferred Label : Retinitis pigmentosa 76;

Symbol : RP76;

CISMeF acronym : RP76;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase gene (POMGNT1, 606822.0018);

Prefixed ID : #617123;

Details

Origin ID

617123;

UMLS CUI

C4310704;

Genes related to phenotype
- Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cystoid macular edema [HPO term]
- Hyperautofluorescent macular lesion [HPO term]
- Nyctalopia [HPO term]
- Peripapillary atrophy [HPO term]
- Reduced visual acuity [HPO term]
- Retinal thinning [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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