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familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Hypoparathyroidism 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).
Mondo Term and Equivalent IDs
MONDO:0010618:  familial isolated hypoparathyroidism due to agenesis of parathyroid gland
MESH:C563238: 
NCIT:C131079: 
Orphanet:2239: 
UMLS:CN201292: