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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:autosomal recessive nonsyndromic deafness 36
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Accession:DOID:0110494 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: DFNB36;   autosomal recessive deafness 36;   autosomal recessive deafness 36, with or without vestibular involvement;   autosomal recessive deafness 36, without vestibular involvement
 related_synonym: DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT
 primary_id: MESH:C563815
 alt_id: MESH:C567219;   OMIM:609006


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autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Hearing Disorders 820
        Hearing Loss 815
          sensorineural hearing loss 625
            autosomal recessive nonsyndromic deafness 142
              autosomal recessive nonsyndromic deafness 36 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal recessive nonsyndromic deafness 142
                          autosomal recessive nonsyndromic deafness 36 1
paths to the root