Term Name: | familial isolated hypoparathyroidism |
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Synonyms: | FIH |
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. |
Ontology: | Human Disease [DOID:0111387] ( DOID:0111387 ) |