Retinitis pigmentosa 19

Preferred Label : Retinitis pigmentosa 19;

Symbol : RP19;

CISMeF acronym : RP19;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily A, member 4 gene (ABCA4, 601691.0008);

Prefixed ID : #601718;

Détails

Origin ID

601718;

UMLS CUI

C1866422;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 19 [DO Concept]
- retinitis pigmentosa 19 [Disease (Nov.)]
- retinitis pigmentosa 19 [MeSH concept]
- retinitis pigmentosa 19 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 19 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 4 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial 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 19 [MeSH Supplementary Concept]
- retinitis pigmentosa 19 [MeSH concept]
- retinitis pigmentosa 19 [DO Concept]
- retinitis pigmentosa 19 [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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