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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:Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
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Accession:DOID:9007719 term browser browse the term
Synonyms:exact_synonym: DMJDS2;   spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia
 primary_id: OMIM:618646



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Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:31412107 NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        Developmental Disabilities 775
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              Neurodevelopmental Disorders 6821
                Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
paths to the root