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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:Homozygous 11p15-p14 Deletion Syndrome
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Accession:DOID:9003446 term browser browse the term
Synonyms:exact_synonym: infantile hyperinsulinism with enteropathy and deafness
 primary_id: MESH:C564701
 alt_id: MIM:606528


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11179
      chromosomal deletion syndrome 1525
        Homozygous 11p15-p14 Deletion Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13533
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7249
            Otorhinolaryngologic Diseases 1789
              auditory system disease 1048
                Hearing Disorders 836
                  Hearing Loss 831
                    sensorineural hearing loss 639
                      Homozygous 11p15-p14 Deletion Syndrome 0
paths to the root