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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 18
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Accession:DOID:0070165 term browser browse the term
Definition:A male infertility characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: SPGF18
 primary_id: OMIM:617576
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18 ClinVar PMID:30122540 NCBI chr12:38,708,915...38,781,598
Ensembl chr12:38,709,595...38,782,010
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 18 ClinVar
OMIM
PMID:24360805 PMID:25741868 PMID:27573432 PMID:27798045 PMID:28492532 PMID:28577616 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      reproductive system disease 2587
        male reproductive system disease 1774
          male infertility 193
            spermatogenic failure 72
              spermatogenic failure 18 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1924
          Female Urogenital Diseases 1629
            female reproductive system disease 1625
              infertility 257
                male infertility 193
                  spermatogenic failure 72
                    spermatogenic failure 18 2
paths to the root