ONTOLOGY REPORT - ANNOTATIONS


Term:cleft lip
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Accession:DOID:9296 term browser browse the term
Definition:Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Synonyms:exact_synonym: Cleft Lips;   Cleft lip with or without cleft palate;   Harelip;   Harelips;   cheiloschisis;   complete unilateral cleft lip;   hare lip;   labium leporinum
 narrow_synonym: CLEFT LIP +/- CLEFT PALATE, AUTOSOMAL DOMINANT;   NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE
 primary_id: MESH:D002971
 alt_id: OMIA:001140;   RDO:0000310
For additional species annotation, visit the Alliance of Genome Resources.


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cleft lip term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:11554173
G Arhgap29 Rho GTPase activating protein 29 JBrowse link 2 225,552,075 225,613,349 RGD:8554872
G Bhmt2 betaine-homocysteine S-methyltransferase 2 JBrowse link 2 23,272,320 23,289,266 RGD:11554173
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8554872
RGD:13442497
RGD:13442495
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:1599548
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Fgf1 fibroblast growth factor 1 JBrowse link 18 32,273,830 32,359,831 RGD:11567264
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Fgf7 fibroblast growth factor 7 JBrowse link 3 118,315,859 118,368,464 RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11554173
RGD:11567264
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:12798509
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11553833
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132609
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910961
RGD:12910962
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:11565179
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:11554173
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11554173
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801482
RGD:11251786
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11554173
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:11532685
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:11554173
G Sdc2 syndecan 2 JBrowse link 7 71,572,731 71,686,139 RGD:12798509
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
RGD:11565176
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:11554173
G Sumo1 small ubiquitin-like modifier 1 JBrowse link 9 66,453,428 66,483,614 RGD:11554173
RGD:8554872
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11554173
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
blepharocheilodontic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:7240710
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link 3 72,001,904 72,053,047 RGD:8554872
RGD:7240710
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Meis2 Meis homeobox 2 JBrowse link 3 107,560,172 107,762,732 RGD:8554872
RGD:7240710
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:1600403
RGD:8554872
RGD:11532814
RGD:11568642
RGD:11568640
RGD:7240710
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
RGD:11568074
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173
popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872
Rapp-Hodgkin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:11554173
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
Van der Woude syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:13592920
RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
RGD:11554173
G LOC100125367 hypothetical protein LOC100125367 JBrowse link 13 111,890,825 111,893,308 RGD:8554872
Van der Woude Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5
137,383,065
137,652,118
137,458,594
137,670,067
RGD:8554872
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    physical disorder 746
      orofacial cleft 110
        cleft lip 50
          Ankyloblepharon Filiforme Adnatum 0
          Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
          Ausems Wittebol-Post Hennekam Syndrome 0
          Baraitser Rodeck Garner syndrome 0
          Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 1
          Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 0
          Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 0
          Cleft Lip, Congenital Healed 0
          Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 0
          Craniosynostosis Mental Retardation Clefting Syndrome 0
          EEC syndrome + 1
          Familial Popliteal Pterygium Syndrome 0
          Hay Wells Syndrome Recessive Type 0
          Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
          Holzgreve-Wagner-Rehder syndrome 0
          Hypodontia Oligodontia with Orofacial Cleft 0
          Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 0
          Kallmann Syndrome 2 with Cleft Lip or Palate 0
          Kapur Toriello Syndrome 0
          Kuster Syndrome 0
          Larsen syndrome 2
          Martinez Monasterio Pinheiro Syndrome 0
          McPherson Clemens Syndrome 0
          Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          Peters plus syndrome 1
          Pilotto Syndrome 0
          Rapp-Hodgkin syndrome 1
          Rosselli-Gulienetti Syndrome 0
          Sakoda Complex 0
          Samson Viljoen Syndrome 0
          Selective Tooth Agenesis with Orofacial Cleft 0
          Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Thomas Syndrome 0
          Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
          Van der Woude Syndrome 2 2
          Van der Woude syndrome + 4
          Yim Ebbin Syndrome 0
          ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
          blepharocheilodontic syndrome + 2
          ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
          ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
          hypertelorism, microtia, facial clefting syndrome 0
          popliteal pterygium syndrome + 2
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Craniofacial Abnormalities 953
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  orofacial cleft 110
                    cleft lip 50
                      Ankyloblepharon Filiforme Adnatum 0
                      Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
                      Ausems Wittebol-Post Hennekam Syndrome 0
                      Baraitser Rodeck Garner syndrome 0
                      Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 1
                      Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 0
                      Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 0
                      Cleft Lip, Congenital Healed 0
                      Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 0
                      Craniosynostosis Mental Retardation Clefting Syndrome 0
                      EEC syndrome + 1
                      Familial Popliteal Pterygium Syndrome 0
                      Hay Wells Syndrome Recessive Type 0
                      Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                      Holzgreve-Wagner-Rehder syndrome 0
                      Hypodontia Oligodontia with Orofacial Cleft 0
                      Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 0
                      Kallmann Syndrome 2 with Cleft Lip or Palate 0
                      Kapur Toriello Syndrome 0
                      Kuster Syndrome 0
                      Larsen syndrome 2
                      Martinez Monasterio Pinheiro Syndrome 0
                      McPherson Clemens Syndrome 0
                      Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
                      Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                      Peters plus syndrome 1
                      Pilotto Syndrome 0
                      Rapp-Hodgkin syndrome 1
                      Rosselli-Gulienetti Syndrome 0
                      Sakoda Complex 0
                      Samson Viljoen Syndrome 0
                      Selective Tooth Agenesis with Orofacial Cleft 0
                      Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                      Thomas Syndrome 0
                      Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
                      Van der Woude Syndrome 2 2
                      Van der Woude syndrome + 4
                      Yim Ebbin Syndrome 0
                      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                      blepharocheilodontic syndrome + 2
                      ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
                      ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
                      hypertelorism, microtia, facial clefting syndrome 0
                      popliteal pterygium syndrome + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.