Retinitis pigmentosa 35

Preferred Label : Retinitis pigmentosa 35;

Symbol : RP35;

CISMeF acronym : RP35;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001);

Prefixed ID : #610282;

Details

Origin ID

610282;

UMLS CUI

C1853214;

Automatic exact mappings (from CISMeF team)
- retinitis pigmentosa 35 (autosomal dominant) [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 35 [DO Concept]
- retinitis pigmentosa 35 [MeSH concept]
- retinitis pigmentosa 35 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 35 [DO Concept]
Genes related to phenotype
- Semaphorin 4a [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Nyctalopia [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 35 [MeSH Supplementary Concept]
- retinitis pigmentosa 35 [MeSH concept]
- retinitis pigmentosa 35 [DO Concept]

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