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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 14759
    syndrome 4210
      Epilepsy, Hearing Loss, and Mental Retardation 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
                    Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1
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