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Summary Literature (0)
DOID:0111387 - familial isolated hypoparathyroidism

Disease Ontology Definition:A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.

Synonyms: FIH

Xenbase Genes : gcm2, pth, casr


MIM:
MIM:146200 - HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1; FIH1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): hypoparathyroidism (is_a)