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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;   Congenital cataract with facial dysmorphism and neuropathy
 primary_id: MESH:C565822
 alt_id: MIM:604168


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy		 OMIM
CTD
ClinVar		 PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 More... NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy ClinVar PMID:21031021 PMID:25741868 PMID:28839118 PMID:29461512 PMID:36161833 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        Neurologic Manifestations 10336
          sensory system disease 7255
            eye disease 3731
              lens disease 520
                cataract 510
                  Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2
paths to the root