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ENHypoparathyroidism-Deafness-Renal Disease Syndrome
Alias:
Hypoparathyroidism, Deafness, Renal Disease Syndrome
Barakat Syndrome
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Hdr Syndrome
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Hypoparathyroidism-Deafness-Renal Disease Syndrome, also known as hypoparathyroidism, deafness, renal disease syndrome, is related to hypoparathyroidism and hyperphosphatemia. An important gene associated with Hypoparathyroidism-Deafness-Renal Disease Syndrome is GATA3 (GATA Binding Protein 3), and among its related pathways/superpathways is GDNF/RET signaling axis. Affiliated tissues include kidney and thymus, and related phenotypes are nervous system and endocrine/exocrine gland
Related ID：
MESH：C537907
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MALACARDS
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