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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:Dysmyelinating Leukodystrophy with Oligodontia
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Accession:DOID:9005213 term browser browse the term
Synonyms:exact_synonym: dentoleukoencephalopathy
 primary_id: MESH:C564344


show annotations for term's descendants           Sort by:
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:614258 PMID:20640464 PMID:21855841 PMID:22855961 PMID:25339210 More... NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Stomatognathic Diseases 1328
      tooth disease 439
        anodontia 76
          Dysmyelinating Leukodystrophy with Oligodontia 3
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            mouth disease 1001
              tooth disease 439
                Tooth Abnormalities 281
                  anodontia 76
                    Dysmyelinating Leukodystrophy with Oligodontia 3
paths to the root