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: Embryo Loss
Accession: DOID:9004994
browse the term
Definition: Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization.
Synonyms: exact_synonym: Disintegration of Embryo; Embryo Death; Embryo Deaths; Embryo Disintegration; PREMBL; blastocyst disintegration; disintegration of blastocyst; embryo resorption; preimplantation embryonic lethality
primary_id: MESH:D020964
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Cdk2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:18384776
RGD:2306554
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12566075
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Grk2
G protein-coupled receptor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17008600
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Igf2
insulin-like growth factor 2
IDA
DNA:methylation: :
RGD
PMID:18778817
RGD:5509951
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il18
interleukin 18
IEP
RGD
PMID:21920610
RGD:8655947
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Lcmt1
leucine carboxyl methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17724024
NCBI chr 1:177,904,119...177,960,111
Ensembl chr 1:177,904,139...177,960,112
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Lif
LIF, interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23409146
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mir105
microRNA 105
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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Nlrp5
NLR family, pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality
ClinVar
NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736
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Parg
poly (ADP-ribose) glycohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15591342
NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273
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Sall1
spalt-like transcription factor 1
ISO
RGD
PMID:11688560
RGD:155641230
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Sall4
spalt-like transcription factor 4
ISO
RGD
PMID:16790473
RGD:155631313
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11391004
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ube2n
ubiquitin-conjugating enzyme E2N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16738225
NCBI chr 7:30,154,330...30,184,373
Ensembl chr 7:30,154,616...30,184,355
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Tle6
TLE family member 6, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26537248 PMID:36271123
NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,107,207...8,118,639
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Padi6
peptidyl arginine deiminase 6
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 PMID:37778376 More...
NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414
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