Bestrophinopathy, autosomal recessive

Preferred Label : Bestrophinopathy, autosomal recessive;

Symbol : ARB;

CISMeF acronym : ARB;

Type : Phenotype, molecular basis known;

Prefixed ID : #611809;

Details

Origin ID

611809;

UMLS CUI

C3888198;

Automatic exact mappings (from CISMeF team)
- Angiotensin II Receptor Antagonist [NCIt concept]
- Arbitrary [LOINC Property]
- Arbitrary (property) (qualifier value) [SNOMED CT concept]
- Retinopathy, Burgess-Black type [ICD-11 More detail]
- algorithms [CISMeF resources Type]
- decision trees [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal recessive bestrophinopathy [ORDO Disease]
- Autosomal recessive bestrophinopathy (disorder) [SNOMED CT concept]
- autosomal recessive bestrophinopathy [Disease (Nov.)]
- bestrophinopathy [DO Concept]
- bestrophinopathy [MeSH concept]
- bestrophinopathy [MeSH Supplementary Concept]
DO Cross reference
- bestrophinopathy [DO Concept]
Genes related to phenotype
- Bestrophin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Hypermetropia [HPO term]
- Reduced visual acuity [HPO term]
- Retinal flecks [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
ORDO concept(s)
- Autosomal recessive bestrophinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive bestrophinopathy (disorder) [SNOMED CT concept]
- autosomal recessive bestrophinopathy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients