familial isolated hypoparathyroidism Disease Ontology Browser

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Disease Ontology Browser

familial isolated hypoparathyroidism (DOID:0111387)
Alliance: disease page
Synonyms: FIH
Alt IDs: OMIM:PS146200, ORDO:2238
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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