ABCD syndrome
Information
- Disease name
- ABCD syndrome
- Disease ID
- DOID:0050600
- Description
- "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB)." [url:http\://en.wikipedia.org/wiki/ABCD_syndrome, url:http\://omim.org/entry/600501]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:C535334
- Cross Reference ID (Disease Ontology)
- MIM:600501
- Exact Synonym (Disease Ontology)
- ABCDS
- Exact Synonym (Disease Ontology)
- albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
- MedGen concept unique identifier (MedGen Concept name)
- C1838099
- MedGen unique identifier (MedGen Concept name)
- 333014