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 82
Accession: DOID:0070581
Definition: A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32. (DO)
Synonyms: exact_synonym: SPGF82 primary_id: MIM:620353 alt_id: DOID:9008398
Please select species to view GViewer data.
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G
N
Akap3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chrNW_004624860:1,684,474...1,701,307
G
G
AKAP3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr11:4,635,962...4,675,993
G
P
AKAP3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr 5:65,788,744...65,816,031
G
S
Akap3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chrNW_004936606:4,771,158...4,794,666
G
D
AKAP3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr27:40,217,313...40,255,934
G
B
AKAP3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr12:4,733,095...4,766,596
G
C
Akap3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chrNW_004955413:2,411,618...2,432,658
G
R
Akap3 A-kinase anchoring protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr 4:161,374,198...161,400,062
G
M
Akap3 A kinase anchor protein 3
ISO ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr 6:126,830,061...126,851,271
G
H
AKAP3 A-kinase anchoring protein 3
IAGP ClinVar Annotator: match by term: Spermatogenic failure 82
OMIM ClinVar
NCBI chr12:4,615,518...4,649,051
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
browse the term
