Vitreoretinochoroidopathy

Preferred Label : Vitreoretinochoroidopathy;

Symbol : VRCP;

CISMeF acronym : ADVIRC; MRCS; VRCP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vitreoretinochoroidopathy, autosomal dominant; Vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; Vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos; ADVIRC;

Included titles and symbols : Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2; MRCS2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the bestrophin 1 gene (BEST1, 607854.0020);

Laboratory abnormalities : Reduced electroretinogram (scotopic photopic) becoming extinguished in older patients;

Prefixed ID : #193220;

Détails

Origin ID

193220;

UMLS CUI

C3888099;

Automatic exact mappings (from CISMeF team)
- microcornea, Rod-Cone dystrophy, cataract, and posterior staphyloma [MeSH concept]
Currated CISMeF NLP mapping
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
- Autosomal dominant vitreoretinochoroidopathy [ICD-11 More detail]
- Autosomal dominant vitreoretinochoroidopathy (disorder) [SNOMED CT concept]
- autosomal dominant vitreoretinochoroidopathy [DO Concept]
- vitreoretinochoroidopathy [MeSH concept]
- vitreoretinochoroidopathy [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant vitreoretinochoroidopathy [DO Concept]
Genes related to phenotype
- Bestrophin 1 [OMIM gene]
HPO term(s)
- Abnormality of chorioretinal pigmentation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Color vision defect [HPO term]
- Dyschromatopsia [HPO term]
- Glaucoma [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Pigmentary retinopathy [HPO term]
- Posterior staphyloma [HPO term]
- Pulverulent cataract [HPO term]
- Retinal arteriolar constriction [HPO term]
- Retinal arteriolar occlusion [HPO term]
- Retinal detachment [HPO term]
- Retinal neovascularization [HPO term]
- Strabismus [HPO term]
- Vitreous hemorrhage [HPO term]
ORDO concept(s)
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
- MRCS syndrome [ORDO Disease]
See also inter- (CISMeF)
- MRCS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
- Autosomal dominant vitreoretinochoroidopathy (disorder) [SNOMED CT concept]
- autosomal dominant vitreoretinochoroidopathy [DO Concept]
- vitreoretinochoroidopathy [MeSH concept]
- vitreoretinochoroidopathy [MeSH Supplementary Concept]

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

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