renal hypomagnesemia 3 - Ontology Browser

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Ontology Browser

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

primary hypomagnesemia + is-a

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"

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Ontology Browser