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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
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Accession:DOID:9002857 term browser browse the term
Synonyms:exact_synonym: Hypomagnesemia, Seizures, and Mental Retardation
 xref: OMIM:PS616418
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
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: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 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        intellectual disability 3878
          HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 1
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
                      HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 1
                      HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 1
paths to the root