Retinitis pigmentosa 73

Preferred Label : Retinitis pigmentosa 73;

Symbol : RP73;

CISMeF acronym : RP73;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the heparin-alpha-glucosaminide N-acetyltransferase gene (HGSNAT, 610453.0011);

Prefixed ID : #616544;

Details

Origin ID

616544;

UMLS CUI

C4225287;

CISMeF manual mappings
- retinitis pigmentosa 73 [DO Concept]
DO Cross reference
- retinitis pigmentosa 73 [DO Concept]
Genes related to phenotype
- Heparan-alpha-glucosaminide n-acetyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Pallor [HPO term]
- Retinal atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 73 [DO Concept]

Keyword's position in hierarchy(ies) :

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