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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:Odontochondrodysplasia 2 with Hearing Loss and Diabetes
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Accession:DOID:9002545 term browser browse the term
Synonyms:exact_synonym: ODCD2
 primary_id: OMIM:619269
For additional species annotation, visit the Alliance of Genome Resources.



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Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO OMIM NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      endocrine system disease 5876
        diabetes mellitus 1409
          Odontochondrodysplasia 2 with Hearing Loss and Diabetes 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          Otorhinolaryngologic Diseases 1370
            auditory system disease 921
              Hearing Disorders 748
                Hearing Loss 744
                  Odontochondrodysplasia 2 with Hearing Loss and Diabetes 1
paths to the root