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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:Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
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Accession:DOID:9007238 term browser browse the term
Synonyms:primary_id: MESH:C564769
 alt_id: OMIM:274205


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21470
      Pathologic Processes 13187
        Growth Disorders 1315
          Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      nervous system disease 26235
        central nervous system disease 23468
          brain disease 21903
            disease of mental health 17211
              developmental disorder of mental health 12015
                specific developmental disorder 7408
                  communication disorder 605
                    agnosia 90
                      cortical deafness 51
                        Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
paths to the root