WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060883 intestinal hypomagnesemia 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.

1 Ontology

Name
Disease Ontology

7 Parents

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:0060883 intestinal hypomagnesemia 1 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060879 DOID:0060883
is_a DOID:4 DOID:0060883
is_a DOID:0014667 DOID:0060883
is_a DOID:630 DOID:0060883
is_a DOID:655 DOID:0060883
is_a DOID:896 DOID:0060883

6 Synonyms

Name Type
HOMG1 synonym
hypomagnesemia caused by selective magnesium malabsorption synonym
hypomagnesemia intestinal type 1 synonym
hypomagnesemic tetany synonym
intestinal hypomagnesemia with secondary hypocalcemia synonym
primary hypomagnesemia with secondary hypocalcemia synonym