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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.


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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 chr20:46,766,467...46,872,009
Ensembl chr20:46,765,881...46,871,946
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 NCBI chr11:64,975,499...65,019,169
Ensembl chr11:64,975,594...65,018,108
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      reproductive system disease 2573
        male reproductive system disease 1763
          male infertility 183
            spermatogenic failure 70
              spermatogenic failure 38 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1913
          Female Urogenital Diseases 1619
            female reproductive system disease 1615
              infertility 247
                male infertility 183
                  spermatogenic failure 70
                    spermatogenic failure 38 2
paths to the root