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spermatogenic failure 19 - Ontology Report - Rat Genome Database

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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 19
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Accession:DOID:0070170 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: SPGF19
 broad_synonym: CFAP43-RELATED CONDITION
 xref: MIM:617592;   MONDO:0054723

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spermatogenic failure 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chrNW_004624831:3,231,854...3,336,184 JBrowse link
G G CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 9:97,179,767...97,283,267
Ensembl chr 9:97,179,647...97,283,225 		JBrowse link
G P CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr14:115,073,529...115,201,965
Ensembl chr14:115,073,366...115,174,043 		JBrowse link
G S Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chrNW_004936600:1,954,987...2,042,834 JBrowse link
G D CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr28:16,443,417...16,555,027
Ensembl chr28:16,443,389...16,555,792 		JBrowse link
G B CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr10:100,729,982...100,831,694
Ensembl chr10:104,188,653...104,290,557 		JBrowse link
G C Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Spermatogenic failure 19 OMIM
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chrNW_004955485:6,418,063...6,515,730
Ensembl chrNW_004955485:6,451,004...6,515,532 		JBrowse link
G R Cfap43 cilia and flagella associated protein 43 ISO
ISS		 OMIM:617592
ClinVar Annotator: match by term: Spermatogenic failure 19		 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr 1:256,566,558...256,653,816
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
G M Cfap43 cilia and flagella associated protein 43 IAGP
ISO		 OMIM:617592
ClinVar Annotator: match by term: Spermatogenic failure 19		 MouseDO
ClinVar
OMIM		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr19:47,723,706...47,825,893
Ensembl chr19:47,725,296...47,907,726 		JBrowse link
G H CFAP43 cilia and flagella associated protein 43 IAGP
ISS		 ClinVar Annotator: match by term: Spermatogenic failure 19
OMIM:617592		 ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:28552195 PMID:29277146 PMID:29449551 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      reproductive system disease 38042
        male reproductive system disease 24371
          male infertility 3377
            spermatogenic failure 1867
              spermatogenic failure 19 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Urogenital Diseases 59340
        Female Urogenital Diseases and Pregnancy Complications 28938
          Female Urogenital Diseases 23889
            female reproductive system disease 23859
              infertility 4135
                male infertility 3377
                  spermatogenic failure 1867
                    spermatogenic failure 19 10
paths to the root