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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:Deafness-Infertility Syndrome
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Accession:DOID:9002477 term browser browse the term
Synonyms:exact_synonym: Chromosome 15q15.3 Deletion Syndrome;   DIS;   Sensorineural Deafness and Male Infertility
 xref: MESH:C567010;   MIM:611102;   MONDO:0012621


show annotations for term's descendants           Sort by:
Deafness-Infertility Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr 3:128,822,387...128,842,501
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:128,783,408...128,789,485
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:128,841,781...128,865,733
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:128,737,857...128,781,408
Ensembl chr 3:108,284,120...108,323,428 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      chromosomal deletion syndrome 1605
        Deafness-Infertility Syndrome 5
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1066
                Hearing Disorders 850
                  Hearing Loss 845
                    sensorineural hearing loss 649
                      Deafness-Infertility Syndrome 5
paths to the root