| Metadata | |
|---|---|
| ID | DOID:0060883 |
| Name | intestinal hypomagnesemia 1 |
| Definition | A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/12032568, https://www.ncbi.nlm.nih.gov/pubmed/12032570, https://www.ncbi.nlm.nih.gov/pubmed/18818955 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HOMG1 [EXACT] hypomagnesemia caused by selective magnesium malabsorption [EXACT] hypomagnesemia intestinal type 1 [EXACT] hypomagnesemic tetany [EXACT] intestinal hypomagnesemia with secondary hypocalcemia [EXACT] primary hypomagnesemia with secondary hypocalcemia [EXACT] |
| Parent Relationships |