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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: MIM: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 19106
    Developmental Disease 14617
      Neurodevelopmental Disorders 6959
        intellectual disability 4386
          HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            disease of mental health 8437
              developmental disorder of mental health 5651
                specific developmental disorder 4611
                  intellectual disability 4386
                    HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
                      HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 1
paths to the root