Age-Related Macular Degeneration-13

Preferred Label : Age-Related Macular Degeneration-13;

NCIt synonyms : ARMD13;

NCIt definition : An autosomal dominant subtype of age-related macular degeneration associated with mutation(s) in the CFI gene, encoding complement factor I.;

Details

Origin ID

C187704;

UMLS CUI

C3809523;

Currated CISMeF NLP mapping
- Macular degeneration, age-related, 13 [OMIM Phenotype]
- age related macular degeneration 13 [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macular degeneration, age-related, 13 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CFI Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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