Visualize Submit Comment

Metadata
ID	DOID:0090107
Name	autosomal dominant hypocalcemia 1
Definition	An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia, https://www.omim.org/entry/601198
Xrefs	OMIM:601198
Synonyms	HYPOC1 [EXACT]
Parent Relationships	is_a autosomal dominant hypocalcemia