Retinitis pigmentosa 74

Preferred Label : Retinitis pigmentosa 74;

Symbol : RP74;

CISMeF acronym : RP74;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BBS2 gene (BBS2, 606151.0018);

Prefixed ID : #616562;

Details

Origin ID

616562;

UMLS CUI

C4225281;

CISMeF manual mappings
- retinitis pigmentosa 74 [DO Concept]
DO Cross reference
- retinitis pigmentosa 74 [DO Concept]
Genes related to phenotype
- Bbs2 gene [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Optic disc pallor [HPO term]
- Pigmentary retinopathy [HPO term]
- Posterior polar cataract [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 74 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients