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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:Sensorineural Deafness and Male Infertility
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Accession:DOID:9002477 term browser browse the term
Synonyms:exact_synonym: Chromosome 15q15.3 Deletion Syndrome;   DIS;   Deafness-Infertility Syndrome
 primary_id: MESH:C567010
 alt_id: OMIM:611102;   RDO:0015199
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Sensorineural Deafness and Male Infertility 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 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:113,318,559...113,324,459
Ensembl chr 3:113,318,563...113,324,461
JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome
CTD
ClinVar
PMID:24033266, PMID:25741868 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      auditory system disease 767
        inner ear disease 533
          sensorineural hearing loss 493
            Sensorineural Deafness and Male Infertility 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  sensorineural hearing loss 493
                    Sensorineural Deafness and Male Infertility 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.