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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: FBXW11-RELATED NEURODEVELOPMENTAL, BRAIN, EYE, AND DIGIT ANOMALIES;   MIM:618914;   NEDJED
 primary_id: MIM:618914



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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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31402090 NCBI chr10:17,232,735...17,330,574
Ensembl chr10:17,227,181...17,330,571
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    sensory system disease 7183
      eye disease 3549
        NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        central nervous system disease 12558
          brain disease 11786
            disease of mental health 8365
              Neurodevelopmental Disorders 6892
                NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME 1
paths to the root