Metadata | |
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ID | DOID:0111388 |
Name | X-linked hypoparathyroidism |
Definition | A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. https://www.ncbi.nlm.nih.gov/pubmed/14431322, https://www.ncbi.nlm.nih.gov/pubmed/9832036 |
Xrefs | |
Synonyms |
agenesis of parathyroid glands [EXACT] HYPX [EXACT] |
Parent Relationships |
is_a hypoparathyroidism |
Subclass Logical Relationships |
has material basis in some X-linked inheritance |