basal laminar drusen
Information
- Disease name
- basal laminar drusen
- Disease ID
- DOID:0060746
- Description
- "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252232, url:https\://www.ncbi.nlm.nih.gov/pubmed/5448127]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2569
- Cross Reference ID (Disease Ontology)
- ICD10CM:H35.5
- Cross Reference ID (Disease Ontology)
- MESH:C563034
- Cross Reference ID (Disease Ontology)
- MIM:126700
- Cross Reference ID (Disease Ontology)
- ORDO:75376
- Exact Synonym (Disease Ontology)
- cuticular drusen
- Exact Synonym (Disease Ontology)
- drusen of bruch membrane
- Exact Synonym (Disease Ontology)
- early adult-onset grouped drusen
- MedGen concept unique identifier (MedGen Concept name)
- C0730295
- MedGen unique identifier (MedGen Concept name)
- 152676