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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormalities of placenta or umbilical cord
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Accession:HP:0001194 term browser browse the term
Definition:An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).
Synonyms:xref: UMLS:C4025798



show annotations for term's descendants           Sort by:
Abnormalities of placenta or umbilical cord term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SKIC3 SKI3 subunit of superkiller complex IAGP OMIM:222470 HPO NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
JBrowse link
Abnormal placenta morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORIN corin, serine peptidase IAGP ORPHA:275555 HPO NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP ORPHA:275555 HPO NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GLB1 galactosidase beta 1 IAGP ORPHA:79255 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP ORPHA:96191 HPO NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP ORPHA:96191 HPO NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP OMIM:619475 HPO NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446
JBrowse link
G STOX1 storkhead box 1 IAGP ORPHA:275555 HPO NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
Abnormal placental membrane morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ORPHA:79500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
Abnormal umbilical cord blood vessel morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
Abnormality of the umbilical cord term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII IAGP ORPHA:327 HPO NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
Amniotic constriction ring term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT1 FERM domain containing kindlin 1 IAGP OMIM:173650 HPO NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G GJB2 gap junction protein beta 2 IAGP OMIM:124500 ORPHA:494 HPO NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ORPHA:1486 HPO NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP OMIM:616099 HPO NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791
JBrowse link
G POMP proteasome maturation protein IAGP OMIM:601952 HPO NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 IAGP ORPHA:1658 HPO NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:1072 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL10 BCL10 immune signaling adaptor IAGP OMIM:273300 HPO NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ORPHA:524 HPO NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ORPHA:524 HPO NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:273300 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP OMIM:273300 HPO NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP ORPHA:524 HPO NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G STK11 serine/threonine kinase 11 IAGP OMIM:273300 HPO NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TP53 tumor protein p53 IAGP OMIM:151623 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Delayed umbilical cord separation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6ST interleukin 6 cytokine family signal transducer IAGP OMIM:619752 HPO NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G ITGB2 integrin subunit beta 2 IAGP OMIM:116920 HPO NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP OMIM:612260 HPO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP OMIM:608203 HPO NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 IAGP OMIM:617475 HPO NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
JBrowse link
Digital constriction ring term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP ORPHA:1010 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP ORPHA:79395 HPO NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124
JBrowse link
Hydatidiform mole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C11orf80 chromosome 11 open reading frame 80 IAGP OMIM:618432 HPO NCBI chr11:66,744,736...66,843,516
Ensembl chr11:66,744,451...66,843,516
JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member IAGP OMIM:614293
ClinVar Annotator: match by term: Hydatidiform mole
HPO
ClinVar
PMID:25741868 NCBI chr 6:73,362,658...73,364,171
Ensembl chr 6:73,362,658...73,364,171
JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 IAGP OMIM:618431 HPO NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G NLRP7 NLR family pyrin domain containing 7 IAGP OMIM:231090
ClinVar Annotator: match by term: Hydatidiform mole
HPO
ClinVar
PMID:24033266 PMID:25741868 NCBI chr19:54,923,509...54,947,505
Ensembl chr19:54,923,509...54,966,312
JBrowse link
Hydropic placenta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMPSTE24 zinc metallopeptidase STE24 IAGP OMIM:275210 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Increased placental thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1865 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
Large placenta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:254528 ORPHA:254534 ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LMNA lamin A/C IAGP ORPHA:1662 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:254528 ORPHA:254534 ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:254528 ORPHA:254534 ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP OMIM:222470 HPO NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:1662 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Neonatal omphalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP OMIM:619835 HPO NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP ORPHA:464370 HPO NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP OMIM:612541 HPO NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility IAGP DNA:polymorphisms:multiple
OMIM:116920
HPO
RGD
PMID:20549317 RGD:6482224 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP OMIM:608203 HPO NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP OMIM:615895 HPO NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
JBrowse link
G SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 IAGP OMIM:617475 HPO NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
JBrowse link
Placental abruption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD46 CD46 molecule IAGP ORPHA:244242 HPO NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFH complement factor H IAGP ORPHA:244242 HPO NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP ORPHA:244242 HPO NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G FANCF FA complementation group F IAGP OMIM:603467 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP ORPHA:244242 HPO Ensembl chr12:102,197,585...102,402,596 JBrowse link
Placental mesenchymal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP OMIM:130650 HPO NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:130650 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:130650 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP OMIM:130650 HPO NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP OMIM:130650 HPO NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
Short umbilical cord term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP OMIM:616503 HPO NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
JBrowse link
G LMNA lamin A/C IAGP ORPHA:1662 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP OMIM:208150 HPO NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:256520 HPO NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP OMIM:275210 ORPHA:1662 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Single umbilical artery term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 IAGP ORPHA:7 HPO NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP OMIM:618653 HPO NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DPF2 double PHD fingers 2 IAGP OMIM:618027 HPO NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
JBrowse link
G FANCB FA complementation group B IAGP OMIM:300514 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCF FA complementation group F IAGP OMIM:603467 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FOXF1 forkhead box F1 IAGP ORPHA:210122 HPO NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G GATA6 GATA binding protein 6 IAGP OMIM:600001 ORPHA:2255 HPO NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GNB2 G protein subunit beta 2 IAGP OMIM:619503 HPO NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:887 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:224410 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MYH7 myosin heavy chain 7 IAGP OMIM:613426 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Single umbilical artery ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:613224 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP OMIM:615009 ORPHA:329224 HPO NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP OMIM:618458 HPO NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ORPHA:247262 HPO NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ORPHA:247262 HPO NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:247262 HPO NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ORPHA:247262 HPO NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP ORPHA:247262 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP ORPHA:247262 HPO NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP ORPHA:247262 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP OMIM:201750 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G QRICH1 glutamine rich 1 IAGP OMIM:617982 HPO NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP OMIM:600920 HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP OMIM:617595 HPO NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP OMIM:145420 HPO NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G STAG1 stromal antigen 1 IAGP OMIM:617635 HPO NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403
JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP OMIM:616897 HPO NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
JBrowse link
G TLK2 tousled like kinase 2 IAGP OMIM:618050 HPO NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP OMIM:200110 HPO NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP OMIM:220210 ORPHA:7 HPO NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G WNT3 Wnt family member 3 IAGP OMIM:273395 HPO NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
JBrowse link
G WT1 WT1 transcription factor IAGP OMIM:608978 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZNF699 zinc finger protein 699 IAGP OMIM:619488 HPO NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Small placenta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP ORPHA:397590 HPO NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP ORPHA:397590 HPO NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
JBrowse link
G IGF1 insulin like growth factor 1 IAGP ORPHA:73272 HPO NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF2 insulin like growth factor 2 IAGP ORPHA:397590 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G LMNA lamin A/C IAGP ORPHA:1662 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP OMIM:208150 HPO NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:256520 HPO NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PLAG1 PLAG1 zinc finger IAGP ORPHA:397590 HPO NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:1662 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Spontaneous chorioamniotic separation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMPSTE24 zinc metallopeptidase STE24 IAGP OMIM:275210 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Umbilical cord hematoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13A1 coagulation factor XIII A chain IAGP ORPHA:331 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F13B coagulation factor XIII B chain IAGP ORPHA:331 HPO NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
JBrowse link
G SERPINE1 serpin family E member 1 IAGP ORPHA:465 HPO NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of prenatal development or birth 1223
        Abnormalities of placenta or umbilical cord 103
          Abnormal placenta morphology + 39
          Abnormal placental membrane morphology + 12
          Abnormality of the umbilical cord + 55
          Hydatidiform mole 5
paths to the root