(Q2027515)
English
hypoparathyroidism-deafness-renal disease syndrome
characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14
- Barakat syndrome
- HDR syndrome
- hypoparathyroidism, sensorineural deafness, and renal disease
- HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR
- Nephrosis, Nerve Deafness, and Hypoparathyroidism
- Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
- HDR
- Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome
Statements
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C130983
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Identifiers
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Sitelinks
Wikipedia(7 entries)
- arwiki متلازمة بركات
- bswiki Barakatov sindrom
- dewiki HDR-Syndrom
- enwiki Barakat syndrome
- fiwiki Barakatin oireyhtymä
- plwiki Zespół Barakata
- ruwiki HDR-синдром