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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 124
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Accession:DOID:9007262 term browser browse the term
Definition:This is a disease characterized by congenital nonsyndromic progressive sensorineural hearing loss.
Synonyms:exact_synonym: DEAFNESS, AUTOSOMAL RECESSIVE 124;   DFNB124
 xref: MIM:620794


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Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1l1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM		 PMID:38459354 NCBI chr 7:75,620,384...75,795,335
Ensembl chr 7:75,620,484...75,795,335 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    sensory system disease 7253
      Hearing Disorders 839
        Hearing Loss 834
          sensorineural hearing loss 644
            autosomal recessive nonsyndromic deafness 149
              Autosomal Recessive Nonsyndromic Deafness 124 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    Deafness 383
                      nonsyndromic deafness 223
                        autosomal recessive nonsyndromic deafness 149
                          Autosomal Recessive Nonsyndromic Deafness 124 1
paths to the root