| Metadata | |
|---|---|
| ID | DOID:0060878 |
| Name | hypoparathyroidism-deafness-renal disease syndrome |
| Definition | A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. https://www.ncbi.nlm.nih.gov/pubmed/10935639, https://www.ncbi.nlm.nih.gov/pubmed/874665 |
| Xrefs |
SNOMEDCT_US_2023_03_01:724282009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Barakat syndrome [EXACT] HDR syndrome [EXACT] hypoparathyroidism, sensorineural deafness, and renal disease [EXACT] |
| Parent Relationships |