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Ontology Browser

Term:
intestinal hypomagnesemia 1 (DOID:0060883)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Hypocalcemia +     
autosomal dominant hypocalcemia +   
intestinal hypomagnesemia 1  
A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.
Manz Syndrome 
renal hypomagnesemia 2  
renal hypomagnesemia 3  
renal hypomagnesemia 4  
renal hypomagnesemia 5 with ocular involvement  
renal hypomagnesemia 6  
Tetany  

Synonyms
Exact Synonyms: HOMG1 ;   HSH ;   HYPOMAGNESEMIC TETANY ;   Hypomagnesemia with Secondary Hypocalcemia ;   hypomagnesemia caused by selective magnesium malabsorption ;   hypomagnesemia intestinal type 1 ;   intestinal hypomagnesemia with secondary hypocalcemia ;   primary hypomagnesemia with secondary hypocalcemia
Primary IDs: MESH:C566593
Alternate IDs: OMIM:602014 ;   RDO:0014906
Xrefs: ORDO:30924
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12032568, https://www.ncbi.nlm.nih.gov/pubmed/12032570, https://www.ncbi.nlm.nih.gov/pubmed/18818955

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.