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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:An autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. (OMIM)
Synonyms:exact_synonym: EHLMRS;   NEDHSB;   neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
 primary_id: OMIM:616577
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 Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome ClinVar PMID:26299366 PMID:28492532 NCBI chr 2:120,203,396...120,221,024 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome ClinVar PMID:26299366 PMID:28492532 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Nudt6 nudix hydrolase 6 ISO ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome ClinVar PMID:26299366 PMID:28492532 NCBI chr 2:120,289,908...120,306,197
Ensembl chr 2:120,290,847...120,306,230
JBrowse link
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:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 2:120,306,412...120,497,707
Ensembl chr 2:120,306,412...120,497,705
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Epilepsy, Hearing Loss, and Mental Retardation Syndrome 4
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Epilepsy, Hearing Loss, and Mental Retardation Syndrome 4
paths to the root