Search Ontology:
Human Disease
familial isolated hypoparathyroidism
- Term ID
- DOID:0111387
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/2212001
- References
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- GARD:2910
- MIM:PS146200
- ORDO:2238
- Ontology
- Human Disease ( DOID:0111387 )
Other Pages
Genes Involved
Zebrafish Models