Metadata | |
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ID | DOID:0110145 |
Name | Bartter disease type 4a |
Definition | A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. https://www.ncbi.nlm.nih.gov/pubmed/11687798 |
Xrefs | |
Synonyms |
BARTS4A [EXACT] Bartter syndrome type 4a [EXACT] BSND [EXACT] neonatal Bartter syndrome with sensorineural deafness [EXACT] |
Parent Relationships |
is_a Bartter disease |