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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:Johnson Neuroectodermal Syndrome
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Accession:DOID:9006577 term browser browse the term
Synonyms:exact_synonym: AADH syndrome;   Alopecia anosmia deafness hypogonadism syndrome;   Johnson-Mcmillin syndrome
 primary_id: MESH:C535882
 alt_id: OMIM:147770


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      Neurocutaneous Syndromes 361
        Johnson Neuroectodermal Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            Otorhinolaryngologic Diseases 1731
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    Deafness 382
                      Johnson Neuroectodermal Syndrome 0
paths to the root