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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypoparathyroidism
Comorbidity C0018784|sensorineural deafness
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PubMedID- 20484821 Heterozygous mutations of gata3, which encodes a dual zinc-finger transcription factor, cause hypoparathyroidism with sensorineural deafness and renal dysplasia.

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