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:Diencephalic-Mesencephalic Junction Dysplasia Syndromes
go back to main search page
Accession:DOID:9002171 term browser browse the term
Synonyms:exact_synonym: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA;   diencephalic-mesencephalic junction dysplasia syndrome
 xref: OMIM:PS251280


show annotations for term's descendants           Sort by:
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:27164683 PMID:30178464 PMID:34773825 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 ClinVar PMID:22822038 PMID:25741868 PMID:27164683 PMID:30178464 PMID:34773825 More... 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 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        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 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                Diencephalic-Mesencephalic Junction Dysplasia Syndromes 3
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
paths to the root