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hypoparathyroidism-deafness-renal disease syndrome
Summary
- Synonym
-
- Barakat syndrome
- HDR syndrome
- hypoparathyroidism, sensorineural deafness, and renal disease
- 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060878
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
