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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 38
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Accession:DOID:0111919 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in ARMC2 on chromosome 6q21. (DO)
Synonyms:exact_synonym: SPGF38
 broad_synonym: MALE INFERTILITY WITH TERATOZOOSPERMIA DUE TO SINGLE GENE MUTATION;   SPERM TAIL ANOMALY
 primary_id: OMIM:618433
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spermatogenic failure 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc2 armadillo repeat containing 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 38 ClinVar
OMIM		 PMID:30686508 NCBI chr20:45,395,859...45,501,808
Ensembl chr20:45,394,127...45,504,819 		JBrowse link
G Cfap91 cilia and flagella associated protein 91 ISO ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation ClinVar PMID:32161152 NCBI chr11:62,413,613...62,457,281
Ensembl chr11:62,413,602...62,457,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      reproductive system disease 2842
        male reproductive system disease 1910
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 38 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 38 2
paths to the root