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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:Abnormality of the umbilical cord
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Accession:HP:0010881 term browser browse the term
Definition:An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.
Synonyms:exact_synonym: Umbilical cord issue
 xref: SNOMEDCT_US:90009001;   UMLS:C0266785


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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
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
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
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 OMIM:116920
DNA:polymorphisms:multiple 		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
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 ORPHA:3412 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 OMIM:265380 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 ORPHA:1865 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
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
          Abnormality of the umbilical cord 55
            Abnormal cord blood measurement + 0
            Abnormal insertion of umbilical cord + 0
            Abnormal umbilical blood flow measurement + 0
            Abnormal umbilical cord blood vessel morphology + 37
            Delayed umbilical cord separation 5
            Long umbilical cord 0
            Neonatal omphalitis 7
            Short umbilical cord 5
            Umbilical cord cyst 0
            Umbilical cord hematoma 3
            Umbilical cord knot 0
            Umbilical vein varix + 0
paths to the root