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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: MIM:614389;   MIM:614390;   MIM:614391
 xref: EFO:1000954


show annotations for term's descendants           Sort by:
Habitual Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA5 annexin A5 susceptibility ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		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 chr15:53,343,244...53,376,328
Ensembl chr15:53,343,907...53,377,347 		JBrowse link
G CBX3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr14:39,510,694...39,520,796
Ensembl chr14:39,510,112...39,519,809 		JBrowse link
G CCDC68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:20,644,302...20,688,615
Ensembl chr 1:20,656,190...20,687,998 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:42,951,030...43,041,616
Ensembl chr  X:42,949,558...43,012,122 		JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CENPH centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 2:54,267,782...54,299,083
Ensembl chr 2:54,267,826...54,298,869 		JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr14:41,397,016...41,891,273
Ensembl chr14:41,488,548...41,885,094 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 OMIM
ClinVar		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G F5 coagulation factor V susceptibility ISO ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar
OMIM		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		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 chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :1298A>C (human)
DNA:SNPs: :677C>T, 1298A>C (human)		 RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr30:29,223,507...29,232,584
Ensembl chr30:29,157,119...29,232,043 		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 chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141 		JBrowse link
G PLK1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632 		JBrowse link
G SYCP3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr15:40,630,976...40,641,398
Ensembl chr15:40,631,279...40,704,365 		JBrowse link
G THBD thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15374
      Urogenital Diseases 4909
        Female Urogenital Diseases and Pregnancy Complications 2589
          Pregnancy Complications 782
            Spontaneous Abortions 148
              Habitual Abortions 21
                cervical incompetence 0
paths to the root