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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1
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Accession:DOID:9005063 term browser browse the term
Definition:A disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development. (OMIM)
Synonyms:exact_synonym: HOMGSMR1;   Hypomagnesemia, Seizures, and Mental Retardation 1
 related_synonym: HOMGSMR
 primary_id: OMIM:616418
 alt_id: RDO:9001599


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HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 OMIM
ClinVar		 PMID:24699222 PMID:25741868 PMID:28492532 NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        intellectual disability 4322
          HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              visual pathway disease 332
                visual cortex disease 329
                  visual epilepsy 329
                    HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
                      HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 1
paths to the root