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ONTOLOGY REPORT - ANNOTATIONS


Term:HAREL-YOON SYNDROME
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Accession:DOID:9006186 term browser browse the term
Definition:A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. (OMIM)
Synonyms:exact_synonym: HAYOS
 primary_id: OMIM:617183;   RDO:9001592
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HAREL-YOON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14314
    syndrome 4612
      HAREL-YOON SYNDROME 1
Path 2
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  disease 14314
    disease of anatomical entity 13524
      nervous system disease 8575
        central nervous system disease 5824
          brain disease 5302
            disease of mental health 3107
              developmental disorder of mental health 1607
                specific developmental disorder 1200
                  intellectual disability 1028
                    HAREL-YOON SYNDROME 1
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