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Metadata
ID DOID:0111387
Name familial isolated hypoparathyroidism
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
Xrefs

GARD:2910

MIM:PS146200

ORDO:2238

Synonyms

FIH [EXACT]

Parent Relationships

is_a hypoparathyroidism

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