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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 5
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Accession:DOID:0070183 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid;   MALE INFERTILITY WITH SPERMATOGENESIS DISORDER;   SPGF5;   infertility associated with multi-tailed spermatozoa and excessive DNA;   infertility associated with multitailed spermatozoa and excessive DNA;   macrocephalic sperm head syndrome;   male infertility due to macrozoospermia;   male infertility with large-headed, multiflagellar, polyploid spermatozoa
 primary_id: MESH:C562903
 alt_id: OMIM:243060
 xref: GARD:12385;   ORDO:137893


show annotations for term's descendants           Sort by:
spermatogenic failure 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17435757 PMID:19147683 PMID:21733974 PMID:22888167 PMID:24033266 More... NCBI chr 1:66,843,653...66,849,775
Ensembl chr 1:66,843,653...66,864,386 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:23533228 PMID:25064402 PMID:25383892 PMID:25741868 PMID:28492532 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802 		JBrowse link
G Dnah17 dynein, axonemal, heavy chain 17 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901 		JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:34932939 PMID:36768883 NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 PMID:26781211 PMID:28332357 PMID:28492532 NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:17054399 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:17704776 PMID:19920235 PMID:21089071 PMID:21649642 PMID:25883013 More... NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Ttc29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder ClinVar PMID:25741868 PMID:31735292 PMID:31735294 PMID:36346162 NCBI chr19:29,531,707...29,750,635
Ensembl chr19:29,532,663...29,750,615 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      reproductive system disease 3010
        male reproductive system disease 2012
          male infertility 309
            spermatogenic failure 173
              spermatogenic failure 5 14
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              infertility 400
                male infertility 309
                  spermatogenic failure 173
                    spermatogenic failure 5 14
paths to the root