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 1
Accession: DOID:0070188
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Definition: A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. (DO)
Synonyms: exact_synonym: SPGF1; oligochiasmatic infertility; oligochiasmic infertility; oligosynaptic infertility
primary_id: MESH:C562902
alt_id: OMIM:258150
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:228900 PMID:258150
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Ankrd36
ankyrin repeat domain 36
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
NCBI chr14:80,451,699...80,568,458
Ensembl chr14:80,451,738...80,516,513
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Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:9536098 PMID:10369247 PMID:11038323 PMID:12907682 PMID:16199547 PMID:17576681 PMID:17694559 PMID:17940071 PMID:19246354 PMID:19269353 PMID:20887963 PMID:22028768 PMID:22100173 PMID:22474171 PMID:22907560 PMID:23543655 PMID:23729601 PMID:24434652 PMID:25122490 PMID:25741868 PMID:25989977 PMID:26139438 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27899157 PMID:28032338 PMID:28033660 PMID:28130116 PMID:28326187 PMID:28492532 PMID:28938747 PMID:29027299 PMID:29190620 PMID:29582157 PMID:29935645 PMID:30067310 PMID:30406445 PMID:30425642 PMID:31831369 PMID:32008008 PMID:32655042 PMID:32738419 PMID:32985417 PMID:33351340 PMID:34095689 PMID:34461970 PMID:35690514 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Pdha2
pyruvate dehydrogenase E1 subunit alpha 2
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:29581481 PMID:35172124
NCBI chr 2:229,872,300...229,873,848
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Sycp2
synaptonemal complex protein 2
ISO
ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility
OMIM ClinVar
PMID:25741868 PMID:31866047
NCBI chr 3:165,431,715...165,502,134
Ensembl chr 3:165,436,331...165,498,789
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Tex15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Oligosynaptic infertility
ClinVar
PMID:26199321
NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
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