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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
 broad_synonym: SYCP2-related condition
 xref: MESH:C562902;   MIM:258150;   MONDO:0009776


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 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,462,419...6,524,760 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:16199547 More... NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		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 2:232,545,550...232,547,098
Ensembl chr 2:232,415,088...232,549,624 		JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility | ClinVar Annotator: match by term: SYCP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:31866047 NCBI chr 3:185,814,033...185,876,516
Ensembl chr 3:185,814,035...185,876,492 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Oligosynaptic infertility ClinVar PMID:26199321 NCBI chr16:65,302,049...65,362,065
Ensembl chr16:65,302,049...65,361,462 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      reproductive system disease 3200
        male reproductive system disease 2053
          male infertility 351
            spermatogenic failure 190
              spermatogenic failure 1 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        Female Urogenital Diseases and Pregnancy Complications 2693
          Female Urogenital Diseases 2204
            female reproductive system disease 2201
              infertility 445
                male infertility 351
                  spermatogenic failure 190
                    spermatogenic failure 1 6
paths to the root