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Metadata
ID DOID:0061151
Name familial isolated hypoparathyroidism 2
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.
https://pubmed.ncbi.nlm.nih.gov/15728199/
Synonyms

FIH2 [EXACT]

Parent Relationships

is_a familial isolated hypoparathyroidism

is_a autosomal dominant disease

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

has material basis in some autosomal recessive inheritance

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