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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:Cerebellar Hypoplasia with Endosteal Sclerosis
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Accession:DOID:9003813 term browser browse the term
Synonyms:exact_synonym: ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME
 primary_id: MESH:C535353
 alt_id: OMIM:213002;   RDO:0000429
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Neurodevelopmental Disorders 5599
        Cerebellar Hypoplasia with Endosteal Sclerosis 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      nervous system disease 11927
        central nervous system disease 10245
          brain disease 9612
            movement disease 1241
              Dyskinesias 909
                Ataxia 365
                  hereditary ataxia 246
                    cerebellar ataxia 190
                      Cerebellar Hypoplasia with Endosteal Sclerosis 1
paths to the root