OBO ID: DOID:0060878
Term Name: hypoparathyroidism-deafness-renal disease syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060878 )
Relationships
is a type of:
OTHER hypoparathyroidism-deafness-renal disease syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 146255
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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