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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:X-Linked Spermatogenic Failure 4
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Accession:DOID:9001624 term browser browse the term
Definition:Characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Caused by hemizygous mutation in the GCNA gene on chromosome Xq13.
Synonyms:exact_synonym: SPGFX4
 primary_id: OMIM:301077

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X-Linked Spermatogenic Failure 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chrNW_004624903:1,914,124...1,954,710 JBrowse link
G G GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chr  X:61,395,585...61,428,773 JBrowse link
G P GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chr  X:57,580,582...57,588,938 JBrowse link
G S Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chrNW_004936762:71,719...96,816 JBrowse link
G D GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chr  X:55,859,750...55,881,164
Ensembl chr  X:55,860,661...55,880,678 		JBrowse link
G B GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chr  X:60,843,078...60,878,840
Ensembl chr  X:70,911,941...70,930,638 		JBrowse link
G C Gcna germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chrNW_004955475:11,111,151...11,145,474 JBrowse link
G H GCNA germ cell nuclear acidic peptidase IAGP ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175454
    disease of anatomical entity 168442
      reproductive system disease 29895
        male reproductive system disease 19751
          male infertility 2985
            spermatogenic failure 1710
              X-Linked Spermatogenic Failure 4 8
Path 2
Term Annotations click to browse term
  disease 175454
    disease of anatomical entity 168442
      Urogenital Diseases 48758
        Female Urogenital Diseases and Pregnancy Complications 23954
          Female Urogenital Diseases 19670
            female reproductive system disease 19640
              infertility 3730
                male infertility 2985
                  spermatogenic failure 1710
                    X-Linked Spermatogenic Failure 4 8
paths to the root