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spermatogenic failure 58 - 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 58
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Accession:DOID:0112352 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. (DO)
Synonyms:exact_synonym: MMAF;   MULTIPLE MORPHOLOGICAL ANOMALIES OF SPERM FLAGELLA;   SPGF58
 primary_id: MIM:619585
 alt_id: DOID:9005122

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spermatogenic failure 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chrNW_004624736:31,188,963...31,308,872
Ensembl chrNW_004624736:31,188,987...31,306,815 		JBrowse link
G P IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chr 1:196,084,498...196,173,880
Ensembl chr 1:196,086,072...196,173,880 		JBrowse link
G S Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chrNW_004936611:2,588,711...2,660,496
Ensembl chrNW_004936611:2,588,695...2,660,532 		JBrowse link
G D IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chr11:45,159,124...45,242,019
Ensembl chr11:45,161,086...45,242,012 		JBrowse link
G B IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558 		JBrowse link
G C Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chrNW_004955472:7,779,705...7,872,423
Ensembl chrNW_004955472:7,775,981...7,872,423 		JBrowse link
G R Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		JBrowse link
G M Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chr 4:94,491,503...94,581,470
Ensembl chr 4:94,502,728...94,581,466 		JBrowse link
G H IFT74 intraflagellar transport 74 IAGP ClinVar Annotator: match by term: Spermatogenic failure 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33689014 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		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 58 9
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 58 9
paths to the root