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| Term | familial isolated hypoparathyroidism | ID (Ontology) | DOID:0111387 (Human Disease) | ||||||
| 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. | ||||||||
| Also Known As | "FIH" | ||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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parathyroid gland disease |__hypoparathyroidism |__familial isolated hypoparathyroidism 3 rec. |__familial isolated hypoparathyroidism 1 |__familial isolated hypoparathyroidism 2 2 rec. |
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| Is a | hypoparathyroidism | ||
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GARD:2910 MIM:PS146200 ORDO:2238 |
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