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ONTOLOGY REPORT - ANNOTATIONS


Term:Epilepsy, Hearing Loss, and Mental Retardation Syndrome
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Accession:DOID:9004336 term browser browse the term
Definition:Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss.
Synonyms:exact_synonym: EHLMRS
 primary_id: OMIM:616577;   RDO:9000781
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Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata5 spermatogenesis associated 5 JBrowse link 2 124,149,872 124,341,138 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.