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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 1
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Accession:DOID:0111739 term browser browse the term
Definition:An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. (DO)
Synonyms:exact_synonym: DFN2;   DFNX1;   X-linked deafness 2, sensorineural congenital
 primary_id: MESH:C564433
 alt_id: OMIM:304500


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X-linked deafness 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 OMIM
ClinVar		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      auditory system disease 950
        inner ear disease 629
          sensorineural hearing loss 584
            X-linked nonsyndromic deafness 9
              X-linked deafness 1 1
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            Otorhinolaryngologic Diseases 1674
              auditory system disease 950
                Hearing Disorders 774
                  Hearing Loss 769
                    Deafness 369
                      nonsyndromic deafness 215
                        X-linked nonsyndromic deafness 9
                          X-linked deafness 1 1
paths to the root