hypoparathyroidism-deafness-renal disease syndrome

Term ID

DOID:0060878

Synonyms

• 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. (2)

References

• MESH:C537907
• MIM:146255
• NCI:C130983
• ORDO:2237
• SNOMEDCT_US_2023_03_01:724282009
• UMLS_CUI:C1840333

Ontology

Human Disease   ( DOID:0060878 )