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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 Syndromes
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Accession:DOID:9002171 term browser browse the term
Synonyms:exact_synonym: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA;   diencephalic-mesencephalic junction dysplasia syndrome
 xref: OMIM:PS251280
For additional species annotation, visit the Alliance of Genome Resources.


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Diencephalic-Mesencephalic Junction Dysplasia Syndromes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome ClinVar PMID:22822038 PMID:25741868 PMID:30178464 NCBI chr18:31,415,533...31,431,108
Ensembl chr18:31,414,250...31,430,973
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dele1 DAP3 binding cell death enhancer 1 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 ClinVar PMID:25741868 NCBI chr18:31,396,897...31,409,914
Ensembl chr18:31,396,922...31,409,907
JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM
ClinVar
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 PMID:30178464 NCBI chr18:31,415,533...31,431,108
Ensembl chr18:31,414,250...31,430,973
JBrowse link
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 ClinVar
OMIM
PMID:31412107 NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              Neurodevelopmental Disorders 5663
                Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
paths to the root