Basal laminar drusen

Preferred Label : Basal laminar drusen;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Drusen of bruch membrane; Drusen, cuticular; Drusen, early adult-onset, grouped;

Inheritance : Autosomal dominant; also a recessive form, fleck retina disease (see 228980);

Prefixed ID : #126700;

Details

Origin ID

126700;

UMLS CUI

C0730295;

Automatic exact mappings (from CISMeF team)
- Familial drusen [ORDO Disease]
Currated CISMeF NLP mapping
- Basal laminar drusen (finding) [SNOMED CT concept]
- basal laminar drusen [DO Concept]
- basal laminar drusen [Disease (Nov.)]
- basal laminar drusen [MeSH concept]
- basal laminar drusen [MeSH Supplementary Concept]
DO Cross reference
- basal laminar drusen [DO Concept]
Genes related to phenotype
- Complement factor h [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Drusen [HPO term]
- Progressive visual loss [HPO term]
ORDO concept(s)
- Familial drusen [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Basal laminar drusen (finding) [SNOMED CT concept]
- basal laminar drusen [MeSH Supplementary Concept]
- basal laminar drusen [MeSH concept]
- basal laminar drusen [DO Concept]
- basal laminar drusen [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients