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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:spermatogenic failure 3
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Accession:DOID:0070168 term browser browse the term
Definition:A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: SPGF3;   non-obstructive azoospermia;   nonobstructive azoospermia
 primary_id: MESH:C564665
 alt_id: OMIM:606766
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24934491 PMID:25741868 PMID:31479588 NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:10647011 PMID:11102980 PMID:11919202 PMID:15580563 PMID:25741868 PMID:31479588 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:24258212 PMID:28492532 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522 		JBrowse link
G Klhl10 kelch-like family member 10 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:88,356,652...88,372,929
Ensembl chr10:88,356,615...88,372,899 		JBrowse link
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224 		JBrowse link
G Mon1b MON1 homolog B, secretory trafficking associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:45,938,433...45,946,647
Ensembl chr19:45,938,915...45,945,741 		JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr 2:260,057,708...260,108,897
Ensembl chr 2:260,057,855...260,108,897 		JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25956372 NCBI chr 9:45,901,262...46,081,880
Ensembl chr 9:45,901,741...46,081,880 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:31479588 NCBI chr15:34,296,922...34,304,387
Ensembl chr15:34,296,922...34,304,552 		JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by OMIM:606766 OMIM
ClinVar		 PMID:23582645 NCBI chr20:5,870,714...5,933,151
Ensembl chr20:5,881,462...5,931,648 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 susceptibility ISO DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) RGD PMID:24661730 RGD:11039404 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668 		JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 NCBI chr12:19,599,741...19,630,775
Ensembl chr12:19,599,834...19,630,780 		JBrowse link
G Syce1l synaptonemal complex central element protein 1-like ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr19:45,946,422...45,956,822
Ensembl chr19:45,946,236...45,956,844 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr10:74,724,070...74,849,172
Ensembl chr10:74,724,549...74,849,194 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Non-obstructive azoospermia ClinVar PMID:25741868 PMID:28492532 PMID:31479588 NCBI chr16:62,313,284...62,373,288
Ensembl chr16:62,313,263...62,373,253 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      reproductive system disease 2573
        male reproductive system disease 1763
          male infertility 183
            azoospermia 40
              spermatogenic failure 3 15
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1913
          Female Urogenital Diseases 1619
            female reproductive system disease 1615
              infertility 247
                male infertility 183
                  azoospermia 40
                    spermatogenic failure 3 15
paths to the root