Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 chr14:113,888,970...114,060,369
Ensembl chr14:113,889,950...114,053,352 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Neurodevelopmental Disorders 6635
        intellectual disability 4177
          HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              visual pathway disease 330
                visual cortex disease 327
                  visual epilepsy 327
                    HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
                      HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 1
paths to the root