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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:Congenital Cataracts, Facial Dysmorphism, and Neuropathy
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Accession:DOID:9005826 term browser browse the term
Synonyms:exact_synonym: CCFDN;   Cataract, Congenital, With Facial Dysmorphism And Neuropathy
 primary_id: MESH:C565822;   RDO:0014360
 alt_id: OMIM:604168
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTDP1 CTD phosphatase subunit 1 IAGP
EXP
ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY
OMIM
ClinVar
CTD
PMID:14517542 PMID:15322984 PMID:16194727 PMID:25741868 NCBI chr18:79,679,803...79,756,625
Ensembl chr18:79,679,801...79,756,623
Ensembl chr18:79,679,801...79,756,623
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19902
    disease of anatomical entity 18514
      nervous system disease 14514
        Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 19902
    disease of anatomical entity 18514
      nervous system disease 14514
        sensory system disease 5854
          eye disease 2982
            lens disease 219
              cataract 209
                Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
paths to the root