Late-onset retinal degeneration

Preferred Label : Late-onset retinal degeneration;

Symbol : LORD;

CISMeF acronym : LORD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal degeneration, late-onset, autosomal dominant;

Description : Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the C1q- and tumor necrosis factor-related protein 5 gene (C1QTNF5, 608752.0001);

Prefixed ID : #605670;

Details

Origin ID

605670;

UMLS CUI

C1854065;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant late-onset retinal degeneration [ICD-11 More detail]
- C1q and TNF related 5 [ORDO Gene]
- C1q and TNF related 5 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant late-onset retinal degeneration (disorder) [SNOMED CT concept]
- Late-Onset retinal degeneration [MeSH concept]
- Late-Onset retinal degeneration [MeSH Supplementary Concept]
- Late-onset retinal degeneration [ORDO Disease]
- late-onset retinal degeneration [DO Concept]
DO Cross reference
- late-onset retinal degeneration [DO Concept]
Genes related to phenotype
- C1q- and tumor necrosis factor-related protein 5 [OMIM gene]
HPO term(s)
- Adult-onset night blindness [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Retinal degeneration [HPO term]
- Retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Scotoma [HPO term]
- Sub-RPE deposits [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Late-onset retinal degeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant late-onset retinal degeneration (disorder) [SNOMED CT concept]
- Late-Onset Retinal Degeneration [NCIt concept]
- Late-Onset retinal degeneration [MeSH Supplementary Concept]
- Late-Onset retinal degeneration [MeSH concept]
- Late-onset retinal degeneration [ORDO Disease]
- late-onset retinal degeneration [DO Concept]

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