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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:CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
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Accession:DOID:9005923 term browser browse the term
Synonyms:primary_id: OMIM:300864

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CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:24368176 PMID:24621584 PMID:25326635 PMID:25741868 More... NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      eye disease 3166
        Eye Abnormalities 733
          coloboma 109
            CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            eye disease 3166
              Eye Abnormalities 733
                coloboma 109
                  CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
paths to the root