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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:OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9001664 term browser browse the term
Definition:This is a disease characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, astructural cardiac defects, deafness, and severe developmental delay.
Synonyms:exact_synonym: CAPN15-RELATED CONDITION;   OGIN
 primary_id: MIM:619318


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OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: CAPN15-related condition | ClinVar Annotator: match by term: Oculogastrointestinal-neurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32885237 PMID:33410501 NCBI chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              Neurodevelopmental Disorders 6965
                OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME 1
paths to the root