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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 ISO ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14517542, PMID:15322984, PMID:16194727, PMID:25741868 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            lens disease 222
              cataract 215
                Congenital Cataracts, Facial Dysmorphism, and Neuropathy 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.