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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
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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:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Harel-Yoon Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Harel-Yoon Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.