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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:Kotzot-Richter Syndrome
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Accession:DOID:9001971 term browser browse the term
Synonyms:exact_synonym: Albinism with immune and hematologic defects;   Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies
 primary_id: MESH:C537025


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Kotzot-Richter Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              pigmentation disease 278
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Syndromic Oculocutaneous Albinism 66
                        Hermansky-Pudlak syndrome 35
                          Kotzot-Richter Syndrome 0
paths to the root