Visualize Submit Comment
Metadata
ID DOID:0060881
Name renal hypomagnesemia 5 with ocular involvement
Definition A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
https://www.ncbi.nlm.nih.gov/pubmed/17033971
Xrefs

MESH:C536148

OMIM:248190

ORDO:2196

UMLS_CUI:C2931121

Subsets

DO_rare_slim

Synonyms

bilateral macular coloboma with hypercalciuria [EXACT]

familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement [EXACT]

FHHNC with severe ocular involvement [EXACT]

hypercalciuria-bilateral macular coloboma syndrome [EXACT]

Meier-Blumberg-Imahorn syndrome [EXACT]

Parent Relationships

is_a primary hypomagnesemia

Add an item to the term tracker