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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:Single umbilical artery
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Accession:HP:0001195 term browser browse the term
Definition:Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
Comment:The umbilical cord normally has two arteries and one vein.
Synonyms:exact_synonym: 2 vessel cord;   2 vessel umbilical cord;   Only one artery in umbilical cord instead of two;   Two vessel cord;   Two vessel umbilical cord
 xref: MESH:D058529;   SNOMEDCT_US:204470001;   UMLS:C1384670


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Single umbilical artery term browser
Symbol Object Name 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 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 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 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 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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14828
    Phenotypic abnormality 14825
      Abnormality of the cardiovascular system 3386
        Abnormality of cardiovascular system morphology 2035
          Abnormal fetal cardiovascular morphology 31
            Single umbilical artery 31
Path 2
Term Annotations click to browse term
  Human phenotype 14828
    Phenotypic abnormality 14825
      Abnormality of prenatal development or birth 1156
        Fetal anomaly 574
          Abnormal fetal morphology 295
            Abnormal fetal cardiovascular morphology 31
              Single umbilical artery 31
paths to the root