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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:NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
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Accession:DOID:9003225 term browser browse the term
Definition:A disease characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes, including abnormalities of fingers and toes. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities.
Synonyms:exact_synonym: NEDJED;   OMIM:618914
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw11 F-box and WD repeat domain containing 11 ISO ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome ClinVar
OMIM
PMID:25741868 PMID:31402090 NCBI chr10:17,542,374...17,640,718
Ensembl chr10:17,542,374...17,640,718
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      eye disease 2582
        NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            disease of mental health 5972
              Neurodevelopmental Disorders 4516
                NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME 1
paths to the root