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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 31
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Accession:DOID:0111922 term browser browse the term
Definition:A spermatogenic failure characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2. (DO)
Synonyms:exact_synonym: CYBA Deficiency;   SPGF31
 primary_id: OMIM:618112
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: CYBA DEFICIENCY ClinVar PMID:3368442, PMID:9445163, PMID:10440830, PMID:19388116, PMID:25741868, PMID:30709874 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Pmfbp1 polyamine modulated factor 1 binding protein 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 ClinVar
OMIM
PMID:30032984, PMID:30298696 NCBI chr19:42,132,551...42,196,990
Ensembl chr19:42,132,527...42,180,981
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      reproductive system disease 2560
        male reproductive system disease 1757
          male infertility 171
            spermatogenic failure 60
              spermatogenic failure 31 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Female Urogenital Diseases 1587
            female reproductive system disease 1583
              infertility 233
                male infertility 171
                  spermatogenic failure 60
                    spermatogenic failure 31 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.