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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 | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome ClinVar PMID:22822038 PMID:25741868 PMID:30178464 NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia | ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome ClinVar PMID:22822038 PMID:25741868 PMID:30178464 NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 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 1 OMIM
ClinVar
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 ClinVar PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
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 OMIM
ClinVar
PMID:25741868 PMID:31412107 NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      Neurodevelopmental Disorders 6188
        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 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        central nervous system disease 11325
          brain disease 10619
            disease of mental health 7536
              Neurodevelopmental Disorders 6188
                Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
paths to the root