Bothnia retinal dystrophy

Preferred Label : Bothnia retinal dystrophy;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vasterbotten dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cellular retinaldehyde-binding protein-1 gene (RLBP1, 180090.0004);

Prefixed ID : #607475;

Details

Origin ID

607475;

UMLS CUI

C1843816;

Automatic exact mappings (from CISMeF team)
- Bothnia retinal dystrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Bothnia dystrophy [Disease (Nov.)]
- Bothnia retinal dystrophy [DO Concept]
- Bothnia retinal dystrophy [ORDO Disease]
- Bothnia retinal dystrophy (disorder) [SNOMED CT concept]
- bothnia retinal dystrophy [MeSH concept]
- bothnia retinal dystrophy [MeSH Supplementary Concept]
DO Cross reference
- Bothnia retinal dystrophy [DO Concept]
Genes related to phenotype
- Retinaldehyde-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal recessive inheritance [HPO term]
- Macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Bothnia retinal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bothnia dystrophy [Disease (Nov.)]
- Bothnia retinal dystrophy [ORDO Disease]
- Bothnia retinal dystrophy [DO Concept]
- Bothnia retinal dystrophy (disorder) [SNOMED CT concept]
- bothnia retinal dystrophy [MeSH Supplementary Concept]
- bothnia retinal dystrophy [MeSH concept]

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