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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:X-linked deafness 4
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Accession:DOID:0111735 term browser browse the term
Definition:An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: DFN6;   DFNX4;   Deafness, Nonsyndromic Sensorineural Progressive 6;   progressive X-linked deafness 6
 primary_id: MESH:C564723
 alt_id: OMIM:300066
 xref: NCI:C180844

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X-linked deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein X-linked ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 OMIM
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chrNW_004955509:2,043,854...2,185,294
Ensembl chrNW_004955509:2,067,351...2,093,732 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      auditory system disease 890
        inner ear disease 580
          sensorineural hearing loss 541
            X-linked nonsyndromic deafness 9
              X-linked deafness 4 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            Otorhinolaryngologic Diseases 1561
              auditory system disease 890
                Hearing Disorders 726
                  Hearing Loss 721
                    Deafness 348
                      nonsyndromic deafness 201
                        X-linked nonsyndromic deafness 9
                          X-linked deafness 4 1
paths to the root