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


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Hypomagnesemia, Seizures, and Mental Retardation 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 mental retardation 1 OMIM
ClinVar
PMID:24699222, PMID:25741868 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
Hypomagnesemia, Seizures, and Mental Retardation 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 MENTAL RETARDATION 2 ClinVar
OMIM
PMID:30388404 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Hypomagnesemia, Seizures, and Mental Retardation 2
            Hypomagnesemia, Seizures, and Mental Retardation 1 1
            Hypomagnesemia, Seizures, and Mental Retardation 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Hypomagnesemia, Seizures, and Mental Retardation 2
                      Hypomagnesemia, Seizures, and Mental Retardation 1 1
                      Hypomagnesemia, Seizures, and Mental Retardation 2 1
paths to the root

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