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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
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      HAREL-YOON SYNDROME 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    HAREL-YOON SYNDROME 1
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