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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.


show annotations for term's descendants           Sort by:
 
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 16058
    disease of anatomical entity 15305
      reproductive system disease 2574
        male reproductive system disease 1773
          male infertility 176
            spermatogenic failure 61
              spermatogenic failure 18 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              infertility 239
                male infertility 176
                  spermatogenic failure 61
                    spermatogenic failure 18 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.