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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 109
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Accession:DOID:0111639 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. (DO)
Synonyms:exact_synonym: DFNB109;   autosomal recessive deafness-109
 primary_id: OMIM:618013


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autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrp1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 ClinVar
OMIM		 PMID:25741868 PMID:29107558 NCBI chr 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      Hearing Disorders 815
        Hearing Loss 810
          sensorineural hearing loss 619
            autosomal recessive nonsyndromic deafness 143
              autosomal recessive nonsyndromic deafness 109 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    Deafness 384
                      nonsyndromic deafness 221
                        autosomal recessive nonsyndromic deafness 143
                          autosomal recessive nonsyndromic deafness 109 1
paths to the root