Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:X-linked spermatogenic failure 3
go back to main search page
Accession:DOID:0112274 term browser browse the term
Definition:A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in CFAP47 on chromosome Xp21.1. (DO)
Synonyms:exact_synonym: SPGFX3
 alt_id: DOID:9007466
 pimary_id: OMIM:301059
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
X-linked spermatogenic failure 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, X-LINKED, 3 ClinVar
OMIM
PMID:33472045 NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      reproductive system disease 2735
        male reproductive system disease 1860
          male infertility 201
            spermatogenic failure 81
              X-linked spermatogenic failure 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2044
          Female Urogenital Diseases 1739
            female reproductive system disease 1735
              infertility 283
                male infertility 201
                  spermatogenic failure 81
                    X-linked spermatogenic failure 3 1
paths to the root