| Metadata | |
|---|---|
| ID | DOID:0111387 |
| Name | familial isolated hypoparathyroidism |
| Definition | A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. https://www.ncbi.nlm.nih.gov/pubmed/11602629, https://www.ncbi.nlm.nih.gov/pubmed/2212001 |
| Xrefs | |
| Synonyms |
FIH [EXACT] |
| Parent Relationships |
is_a hypoparathyroidism |