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Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
rareHypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
- Identifiers
- MONDO:0010618 OMIM:307700Orphanet:2239
- Also known as
- hypoparathyroidism, X-linked · HYPX · X-linked hypoparathyroidism
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