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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:chromosome 6pter-p24 deletion syndrome
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Accession:DOID:0060422 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)
Synonyms:exact_synonym: 6p subtelomeric deletion syndrome;   6p25 microdeletion syndrome;   distal monosomy 6p
 primary_id: MESH:C567239
 alt_id: OMIM:612582
 xref: ORDO:96125

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  disease 16063
    syndrome 9329
      chromosomal deletion syndrome 1403
        chromosome 6pter-p24 deletion syndrome 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    chromosome 6pter-p24 deletion syndrome 0
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