Late-Onset Retinal Degeneration

Preferred Label : Late-Onset Retinal Degeneration;

NCIt synonyms : LORD;

NCIt definition : An autosomal dominant condition caused by mutation in the C1QTNF5 gene, encoding complement C1q tumor necrosis factor-related protein 5. It is characterized by dark adaptation abnormalities, sub-retinal pigment epithelium lipid-rich material deposits, choroidal neovascularization, and chorioretinal atrophy. The typical onset is in the fifth or sixth decade of life.;

Détails

Origin ID

C202070;

UMLS CUI

C1854065;

Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
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 [MeSH Supplementary Concept]
- Late-Onset retinal degeneration [MeSH concept]
- Late-onset retinal degeneration [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Eye [NCIt concept]
- Retina [NCIt concept]
disease_mapped_to_gene
- C1QTNF5 Gene [NCIt concept]

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

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