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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:male infertility due to acephalic spermatozoa
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Accession:DOID:0112311 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. (DO)
Synonyms:exact_synonym: acephalic spermatozoa syndrome
 xref: MONDO:0035153;   ORDO:529970


show annotations for term's descendants           Sort by:
male infertility due to acephalic spermatozoa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO DNA:insertion:intron 10 (rat) RGD PMID:19710508 RGD:150521555 NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920 		JBrowse link
spermatogenic failure 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUN5 Sad1 and UNC84 domain containing 5 IAGP
EXP		 ClinVar Annotator: match by term: Spermatogenic failure 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27640305 PMID:28492532 PMID:29331481 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433 		JBrowse link
spermatogenic failure 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRDT bromodomain testis associated IAGP ClinVar Annotator: match by term: Spermatogenic failure 21 ClinVar
OMIM		 PMID:28199965 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
spermatogenic failure 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSGA10 testis specific 10 IAGP ClinVar Annotator: match by term: Spermatogenic failure 26 ClinVar
OMIM		 PMID:28905369 NCBI chr 2:98,997,261...99,154,966
Ensembl chr 2:98,997,261...99,154,964 		JBrowse link
spermatogenic failure 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBA cytochrome b-245 alpha chain IAGP ClinVar Annotator: match by term: CYBA DEFICIENCY ClinVar PMID:3368442 PMID:9445163 PMID:10440830 PMID:10910929 PMID:19388116 More... NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G PMFBP1 polyamine modulated factor 1 binding protein 1 IAGP
ISS		 ClinVar Annotator: match by term: Spermatogenic failure 31
OMIM:618112		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:30032984 PMID:30298696 NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      reproductive system disease 4002
        male reproductive system disease 2565
          male infertility 314
            spermatogenic failure 172
              male infertility due to acephalic spermatozoa 6
                spermatogenic failure 16 1
                spermatogenic failure 21 1
                spermatogenic failure 26 1
                spermatogenic failure 31 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6456
        Female Urogenital Diseases and Pregnancy Complications 2996
          Female Urogenital Diseases 2464
            female reproductive system disease 2461
              infertility 397
                male infertility 314
                  spermatogenic failure 172
                    male infertility due to acephalic spermatozoa 6
                      spermatogenic failure 16 1
                      spermatogenic failure 21 1
                      spermatogenic failure 26 1
                      spermatogenic failure 31 2
paths to the root