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
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hypoparathyroidism-deafness-renal disease syndrome
Summary
hypoparathyroidism-deafness-renal disease syndrome is a rare disease[1]. It has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- hypoparathyroidism-deafness-renal disease syndrome's instance of is recorded as rare disease[3].
- hypoparathyroidism-deafness-renal disease syndrome's instance of is recorded as head and neck disease[4].
- hypoparathyroidism-deafness-renal disease syndrome's instance of is recorded as developmental defect during embryogenesis[5].
- hypoparathyroidism-deafness-renal disease syndrome's instance of is recorded as class of disease[6].
- Amin J. Barakat is named after hypoparathyroidism-deafness-renal disease syndrome[7].
- hypoparathyroidism-deafness-renal disease syndrome is a type of chromosomal deletion syndrome[8].
- hypoparathyroidism-deafness-renal disease syndrome is a type of syndromic genetic deafness[9].
- hypoparathyroidism-deafness-renal disease syndrome is a type of syndromic renal or urinary tract malformation[10].
- hypoparathyroidism-deafness-renal disease syndrome is a type of partial deletion of the short arm of chromosome 10[11].
- hypoparathyroidism-deafness-renal disease syndrome is a type of syndrome with hypoparathyroidism[12].
- hypoparathyroidism-deafness-renal disease syndrome's NCI Thesaurus ID is recorded as C130983[13].
- hypoparathyroidism-deafness-renal disease syndrome's health specialty is recorded as medical genetics[14].
- hypoparathyroidism-deafness-renal disease syndrome's genetic association is recorded as GATA3[15].
- hypoparathyroidism-deafness-renal disease syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060878[16].
- hypoparathyroidism-deafness-renal disease syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060878[17].
- hypoparathyroidism-deafness-renal disease syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2237[18].
- hypoparathyroidism-deafness-renal disease syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
Why It Matters
hypoparathyroidism-deafness-renal disease syndrome has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2] It is known by 12 alternative names across languages and contexts.[20]