Macular degeneration, age-related, 13

Preferred Label : Macular degeneration, age-related, 13;

Symbol : ARMD13;

CISMeF acronym : ARMD13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the complement factor I gene (CFI, 217030.0010);

Prefixed ID : #615439;

Details

Origin ID

615439;

UMLS CUI

C3809523;

Currated CISMeF NLP mapping
- Age-Related Macular Degeneration-13 [NCIt concept]
- age related macular degeneration 13 [DO Concept]
DO Cross reference
- age related macular degeneration 13 [DO Concept]
Genes related to phenotype
- Complement factor I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroidal neovascularization [HPO term]
- Drusen [HPO term]
- Macular degeneration [HPO term]
- Macular scar [HPO term]
- Progressive visual loss [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Age-Related Macular Degeneration-13 [NCIt concept]
- age related macular degeneration 13 [DO Concept]

Keyword's position in hierarchy(ies) :

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