Retinitis pigmentosa 30

Preferred Label : Retinitis pigmentosa 30;

Symbol : RP30;

CISMeF acronym : RP30;

Type : Phenotype, molecular basis known;

Included titles and symbols : Macular degeneration;

Prefixed ID : #607921;

Details

Origin ID

607921;

UMLS CUI

C1842816;

Automatic exact mappings (from CISMeF team)
- 2-methoxyisobutylisonitrile [MeSH Supplementary Concept]
- Degeneration macular [MedDRA LLT]
- MACULAR DEGENERATION [WHO-ART Included Term]
- Macular Degeneration [NCIt concept]
- Macular degeneration [MedDRA Preferred Term]
- Macular degeneration [PASCAL descriptor]
- Macular degeneration [HPO term]
- Macular degeneration [LOINC component]
- fascin actin-bundling protein 2, retinal [ORDO Gene]
- fascin actin-bundling protein 2, retinal [HGNC gene]
- macular degeneration [ICPC-2 Rubric]
- macular degeneration [MeSH concept]
- macular degeneration [DO Concept]
- macular degeneration [MeSH Descriptor]
- macular degeneration [MedlinePlus Topic]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 30 [DO Concept]
- retinitis pigmentosa 30 [Disease (Nov.)]
- retinitis pigmentosa 30 [MeSH concept]
- retinitis pigmentosa 30 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 30 [DO Concept]
Genes related to phenotype
- Fascin actin-bundling protein 2, retinal [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Chorioretinal atrophy [HPO term]
- Nyctalopia [HPO term]
- Optic atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 30 [MeSH Supplementary Concept]
- retinitis pigmentosa 30 [MeSH concept]
- retinitis pigmentosa 30 [DO Concept]
- retinitis pigmentosa 30 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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