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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 2
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Accession:DOID:9006615 term browser browse the term
Synonyms:exact_synonym: HOMGSMR2;   Hypomagnesemia, Seizures, and Mental Retardation 2
 primary_id: OMIM:618314


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HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388404 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Neurodevelopmental Disorders 6852
        intellectual disability 4306
          HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              visual pathway disease 348
                visual cortex disease 345
                  visual epilepsy 345
                    HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
                      HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 1
paths to the root