Bornholm eye disease

Preferred Label : Bornholm eye disease;

Symbol : BED;

CISMeF acronym : BED;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Myopia, high, with nonprogressive cone dysfunction;

Description : Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).;

Inheritance : X-linked recessive;

Prefixed ID : %300843;

Détails

Origin ID

300843;

UMLS CUI

C3159311;

Automatic exact mappings (from CISMeF team)
- BED [EDAM format]
- Bachelor of Education [NCIt concept]
- Bed [ICNP mean]
- Bed [NCIt concept]
- Bed (physical object) [SNOMED CT concept]
- Bedding (physical object) [SNOMED CT concept]
- Bedpan (physical object) [SNOMED CT concept]
- Binge Eating [NCIt concept]
- X-linked cone dysfunction syndrome with myopia [ICD-11 More detail]
- bed [ICPS Descriptor]
- bedding [MeSH concept]
- bedding and linens [MeSH Descriptor]
- beds [MeSH Descriptor]
- beds [MeSH concept]
Currated CISMeF NLP mapping
- X-linked cone dysfunction syndrome with myopia [ORDO Disease]
- X-linked cone dysfunction syndrome with myopia (disorder) [SNOMED CT concept]
- bornholm eye disease [MeSH concept]
- bornholm eye disease [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of retinal pigmentation [HPO term]
- Amblyopia [HPO term]
- Astigmatism [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Deuteranopia [HPO term]
- High myopia [HPO term]
- Optic nerve hypoplasia [HPO term]
- Protanopia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked cone dysfunction syndrome with myopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked cone dysfunction syndrome with myopia [ORDO Disease]
- X-linked cone dysfunction syndrome with myopia (disorder) [SNOMED CT concept]
- bornholm eye disease [MeSH Supplementary Concept]
- bornholm eye disease [MeSH concept]

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

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