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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 123
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Accession:DOID:9007011 term browser browse the term
Definition:A disease characterized by nonsyndromic bilateral severe to profound hearing impairment, with onset as early as the first decade of life. Caused by homozygous mutation in the STX4 gene on chromosome 16p11.
Synonyms:exact_synonym: DFNB123
 primary_id: OMIM:620745

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Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STX4 syntaxin 4 ISO OMIM NCBI chr 5:27,725,121...27,734,442
Ensembl chr 5:27,724,495...27,732,736 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    sensory system disease 6596
      Hearing Disorders 758
        Hearing Loss 752
          sensorineural hearing loss 571
            autosomal recessive nonsyndromic deafness 139
              Autosomal Recessive Nonsyndromic Deafness 123 1
Path 2
Term Annotations click to browse term
  disease 15274
    Pathological Conditions, Signs and Symptoms 11821
      Signs and Symptoms 9800
        Neurologic Manifestations 9482
          sensory system disease 6596
            Otorhinolaryngologic Diseases 1644
              auditory system disease 931
                Hearing Disorders 758
                  Hearing Loss 752
                    Deafness 364
                      nonsyndromic deafness 210
                        autosomal recessive nonsyndromic deafness 139
                          Autosomal Recessive Nonsyndromic Deafness 123 1
paths to the root