Fleck retina, familial benign

Preferred Label : Fleck retina, familial benign;

Symbol : FRFB;

CISMeF acronym : FRFB;

Type : Phenotype, molecular basis known;

Description : Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region (summary by Sergouniotis et al., 2011).;

Inheritance : Autosomal recessive;

Prefixed ID : #228980;

Details

Origin ID

228980;

UMLS CUI

C1856718;

Automatic exact mappings (from CISMeF team)
- familial benign fleck retina [DO Concept]
Currated CISMeF NLP mapping
- Familial benign flecked retina [ORDO Disease]
- Familial benign flecked retina (disorder) [SNOMED CT concept]
- Familial flecked retinopathy [ORDO Disease]
- benign familial fleck retina [Disease (Nov.)]
- fleck retina, familial benign [MeSH concept]
- fleck retina, familial benign [MeSH Supplementary Concept]
DO Cross reference
- familial benign fleck retina [DO Concept]
Genes related to phenotype
- Phospholipase a2, group V [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Retinal flecks [HPO term]
Not associated HPO term(s)
- Nyctalopia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Familial benign flecked retina [ORDO Disease]
- Familial flecked retinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial benign flecked retina [ORDO Disease]
- Familial benign flecked retina (disorder) [SNOMED CT concept]
- Familial flecked retinopathy [ORDO Disease]
- benign familial fleck retina [Disease (Nov.)]
- familial benign fleck retina [DO Concept]
- fleck retina, familial benign [MeSH Supplementary Concept]
- fleck retina, familial benign [MeSH concept]

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