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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

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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 PMID:22822038 PMID:25741868 PMID:30178464 NCBI chrNW_004936504:12,226,771...12,244,959
Ensembl chrNW_004936504:12,229,995...12,242,487 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia ClinVar PMID:22822038 PMID:25741868 PMID:30178464 NCBI chrNW_004936504:12,200,395...12,217,454
Ensembl chrNW_004936504:12,200,388...12,217,518 		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 chrNW_004936504:12,226,771...12,244,959
Ensembl chrNW_004936504:12,229,995...12,242,487 		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 chrNW_004936504:12,200,395...12,217,454
Ensembl chrNW_004936504:12,200,388...12,217,518 		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 chrNW_004936482:16,703,936...16,706,224
Ensembl chrNW_004936482:16,704,193...16,705,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Neurodevelopmental Disorders 6302
        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 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              Neurodevelopmental Disorders 6302
                Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
paths to the root