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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 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        Eye Abnormalities 365
          coloboma 94
            CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Abnormalities 365
              coloboma 94
                CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.