Renal Hypomagnesemia 3
Disease ID: disease_node_17555
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| Dbxref | ICD10CM:E83.4, MIM:248250, ORDO:31043 |
|---|---|
| Subclassof | DOID_0060879 |
| Data Source | DOID |
| Synonyms | FHHNC without severe ocular involvement, HOMG3, familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement, isolated renal hypomagnesemia, primary hypomagnesemia due to defect in renal tubular transport of magnesium, renal hypomagnesemia type 3 |
| Doid Label | renal hypomagnesemia 3 |
| Doid Description | 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. |
| Disease Node Id | disease_node_17555 |
| Doid Id | DOID_0060880 |
| Label | Renal Hypomagnesemia 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Primary Hypomagnesemia(ID:disease_node_17549) (Disease)