FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypoparathyroidism-deafness-renal disease syndrome ID (Ontology) DOID:0060878 (Human 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.
Also Known As "Barakat syndrome" ; "HDR syndrome" ; "hypoparathyroidism, sensorineural deafness, and renal disease"
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 Genes
 hypoparathyroidism-deafness-renal disease syndrome       2
 for disease ribbon | hypoparathyroidism-deafness-renal disease syndrome       2
 model of | hypoparathyroidism-deafness-renal disease syndrome       2
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__hypoparathyroidism-deafness-renal disease syndrome  2 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "Barakat syndrome" EXACT
    "HDR syndrome" EXACT
    "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT
Secondary IDs
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MESH:C537907
MIM:146255
NCI:C130983
ORDO:2237
SNOMEDCT_US_2023_03_01:724282009
UMLS_CUI:C1840333