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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 1
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Accession:DOID:0070188 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. (DO)
Synonyms:exact_synonym: SPGF1;   oligochiasmatic infertility;   oligochiasmic infertility;   oligosynaptic infertility
 primary_id: MESH:C562902
 alt_id: OMIM:258150



show annotations for term's descendants           Sort by:
spermatogenic failure 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:228900 PMID:258150 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar NCBI chr14:80,451,699...80,568,458
Ensembl chr14:80,451,738...80,516,513
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:16199547 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:29581481 PMID:35172124 NCBI chr 2:229,872,300...229,873,848 JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility OMIM
ClinVar
PMID:25741868 PMID:31866047 NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:26199321 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      reproductive system disease 2984
        male reproductive system disease 1979
          male infertility 268
            spermatogenic failure 134
              spermatogenic failure 1 7
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Urogenital Diseases 5193
        Female Urogenital Diseases and Pregnancy Complications 2425
          Female Urogenital Diseases 1975
            female reproductive system disease 1972
              infertility 360
                male infertility 268
                  spermatogenic failure 134
                    spermatogenic failure 1 7
paths to the root