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 |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |