FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial isolated hypoparathyroidism 2 ID (Ontology) DOID:0061151 (Human Disease)
Definition A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene.
Also Known As "FIH2"
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 familial isolated hypoparathyroidism 2       1      1
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autosomal genetic disease
 |__autosomal dominant disease____________
 |__autosomal recessive disease___________|
hypoparathyroidism                        |
 |__familial isolated hypoparathyroidism__|
                                          familial isolated hypoparathyroidism 2  2 rec.
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Is a autosomal dominant disease
autosomal recessive disease
familial isolated hypoparathyroidism
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Synonyms
  • "FIH2" EXACT OMO:0003012
Secondary IDs
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