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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        Eye Abnormalities 353
          coloboma 84
            CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            Eye Abnormalities 353
              coloboma 84
                CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
paths to the root