Visualize Submit Comment
Metadata
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

OMIM:307700

Synonyms

agenesis of parathyroid glands [EXACT]

HYPX [EXACT]

Parent Relationships

is_a hypoparathyroidism

is_a X-linked monogenic disease

Add an item to the term tracker