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| Term | familial isolated hypoparathyroidism 1 | ID (Ontology) | DOID:0061150 (Human Disease) |
| Definition | A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15. | ||
| Also Known As | "FIH1" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease____________ |__autosomal recessive disease___________| hypoparathyroidism | |__familial isolated hypoparathyroidism__| familial isolated hypoparathyroidism 1 |
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| Is a |
autosomal dominant disease autosomal recessive disease familial isolated hypoparathyroidism |
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| MIM:146200 | |||