Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
renal hypomagnesemia 3 (DOID:0060880)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
intestinal hypomagnesemia 1  
Manz Syndrome 
renal hypomagnesemia 2  
renal hypomagnesemia 3  
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. (DO)
renal hypomagnesemia 4  
renal hypomagnesemia 5 with ocular involvement  
renal hypomagnesemia 6  

Synonyms
Exact Synonyms: FHHNC without severe ocular involvement ;   HOMG3 ;   familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement ;   primary hypomagnesemia due to defect in renal tubular transport of magnesium ;   renal hypomagnesemia type 3
Related Synonyms: renal hypomagnesemia, recessive
Primary IDs: OMIM:248250
Xrefs: ORDO:31043
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10390358 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16501001 "DO" "DO"

paths to the root