Also known as Barakat syndrome, HDR syndrome, hypoparathyroidism, sensorineural deafness, and renal disease, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR, Nephrosis, Nerve Deafness, and Hypoparathyroidism
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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
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).