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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata5 spermatogenesis associated 5 ISO ClinVar Annotator: match by term: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome
OMIM
ClinVar
PMID:25741868 PMID:26299366 PMID:26467025 PMID:27683084 PMID:28293831 PMID:28492532 PMID:28513609 PMID:29343804 PMID:30552426 NCBI chr 2:124,149,872...124,341,138
Ensembl chr 2:124,149,872...124,341,131
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1
paths to the root