Macular degeneration, age-related, 3

Preferred Label : Macular degeneration, age-related, 3;

Symbol : ARMD3;

CISMeF acronym : ARMD3; HNARMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibulin 5 gene (FBLN5, 604580.0003);

Prefixed ID : #608895;

Details

Origin ID

608895;

UMLS CUI

C1837187;

Automatic exact mappings (from CISMeF team)
- fibulin 5 [ORDO Gene]
Broader ORDO disease(s)
- Age-related macular degeneration [ORDO Disease]
Currated CISMeF NLP mapping
- macular degeneration, Age-Related, 3 [MeSH concept]
- macular degeneration, Age-Related, 3 [MeSH Supplementary Concept]
False automatic mappings
- Hereditary sensorimotor neuropathy with hyperelastic skin [ORDO Disease]
Genes related to phenotype
- Fibulin 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroidal neovascularization [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Decreased patellar reflex [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Drusen [HPO term]
- Hyperextensible skin [HPO term]
- Joint hypermobility [HPO term]
- Macular degeneration [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
ORDO concept(s)
- Age-related macular degeneration [ORDO Disease]
- Hereditary sensorimotor neuropathy with hyperelastic skin [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- macular degeneration, Age-Related, 3 [MeSH concept]
- macular degeneration, Age-Related, 3 [MeSH Supplementary Concept]

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