WormMine: DiseaseOntology DOID:0060880 renal hypomagnesemia 3 Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involves errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:896	metal metabolism disorder	An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
DOID:0060879	primary hypomagnesemia	A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.
DOID:0060880	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.

Name	Type
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	synonym
FHHNC without severe ocular involvement	synonym
HOMG3	synonym
isolated renal hypomagnesemia	synonym
primary hypomagnesemia due to defect in renal tubular transport of magnesium	synonym
renal hypomagnesemia type 3	synonym

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