Bartter disease type 4a
Information
- Disease name
- Bartter disease type 4a
- Disease ID
- DOID:0110145
- Description
- "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687798]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:445
- Cross Reference ID (Disease Ontology)
- ICD10CM:E26.8
- Cross Reference ID (Disease Ontology)
- MIM:602522
- Exact Synonym (Disease Ontology)
- BARTS4A
- Exact Synonym (Disease Ontology)
- Bartter syndrome type 4a
- Exact Synonym (Disease Ontology)
- BSND
- Exact Synonym (Disease Ontology)
- neonatal Bartter syndrome with sensorineural deafness