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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:Habitual Abortions
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Accession:DOID:9007479 term browser browse the term
Definition:Three or more consecutive spontaneous abortions.
Synonyms:exact_synonym: Habitual Abortion;   RPL;   RPRGL;   Recurrent Abortion;   Recurrent Miscarriage;   Recurrent Miscarriages;   recurrent abortions;   recurrent embryonic loss;   recurrent spontaneous abortion;   recurrent spontaneous abortions;   recurrent stillbirth
 related_synonym: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1;   PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2;   PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3;   RPRGL1;   RPRGL2;   RPRGL3;   recurrent fetal loss, susceptibility to
 primary_id: MESH:D000026
 alt_id: OMIM:614389;   OMIM:614390;   OMIM:614391
 xref: EFO:1000954


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Habitual Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Asic5 acid sensing ion channel subunit family member 5 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chrNW_004936576:2,483,715...2,510,037
Ensembl chrNW_004936576:2,483,324...2,507,473
JBrowse link
G Cbx3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004936478:2,981,218...2,989,329
Ensembl chrNW_004936478:2,981,228...2,989,324
JBrowse link
G Ccdc68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004936497:8,990,841...9,035,498
Ensembl chrNW_004936497:9,005,157...9,034,486
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chrNW_004936721:1,729,979...1,782,399 JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
JBrowse link
G Cenph centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004936480:379,172...396,167
Ensembl chrNW_004936480:379,183...396,167
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chrNW_004936478:5,184,157...5,319,176
Ensembl chrNW_004936478:4,924,489...5,319,844
JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar
OMIM
PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
JBrowse link
G F5 coagulation factor V susceptibility ISO ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO ClinVar
OMIM
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)
RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004936471:25,165,850...25,173,503
Ensembl chrNW_004936471:25,166,325...25,173,535
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chrNW_004936476:8,730,766...9,160,102
Ensembl chrNW_004936476:8,730,842...9,159,863
JBrowse link
G Plk1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004936501:8,321,415...8,332,414
Ensembl chrNW_004936501:8,321,305...8,332,424
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004936669:3,479,778...3,504,938
Ensembl chrNW_004936669:3,481,294...3,491,572
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chrNW_004936492:12,316,868...12,326,778
Ensembl chrNW_004936492:12,316,869...12,330,251
JBrowse link
G Thbd thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Urogenital Diseases 4489
        Female Urogenital Diseases and Pregnancy Complications 2224
          Pregnancy Complications 682
            Spontaneous Abortions 137
              Habitual Abortions 21
                cervical incompetence 0
paths to the root