| Metadata | |
|---|---|
| ID | DOID:0060880 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060880 Copy |
| Name | renal hypomagnesemia 3 |
| Definition | A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/10390358, https://www.ncbi.nlm.nih.gov/pubmed/16501001 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement [EXACT] FHHNC without severe ocular involvement [EXACT] HOMG3 [EXACT] isolated renal hypomagnesemia [EXACT] primary hypomagnesemia due to defect in renal tubular transport of magnesium [EXACT] renal hypomagnesemia type 3 [EXACT] |
| Parent Relationships |