Metadata | |
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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 | |
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 |