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: cleft lip
Accession: DOID:9296
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
xref: ICD10CM:Q36 ; ICD10CM:Q36.9 ; ICD9CM:749.1 ; ICD9CM:749.11 ; NCI:C87175
For additional species annotation, visit the
Alliance of Genome Resources .
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Abca4
ATP binding cassette subfamily A member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20436469
NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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Arhgap29
Rho GTPase activating protein 29
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate
ClinVar
PMID:25741868
NCBI chr 2:225,552,075...225,613,349
Ensembl chr 2:225,552,148...225,613,359
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Bhmt2
betaine-homocysteine S-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
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Bmp4
bone morphogenetic protein 4
susceptibility
ISO
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant DNA:SNP: : rs17563 (p.V152A)(human) DNA:polymorphism:cds:p.V152A(human)
ClinVar
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 , PMID:23227324 , PMID:18771417
RGD:13442497 , RGD:13442495
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Cdh1
cadherin 1
susceptibility
ISO
DNA:splice-site mutation: :531+2T>A (human) ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:25741868 PMID:28492532 PMID:29805042 , PMID:15831593
RGD:1599548
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:25741868 PMID:29805042
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Esrp2
epithelial splicing regulatory protein 2
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr19:38,113,412...38,120,578
Ensembl chr19:38,113,412...38,120,578
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Fgf1
fibroblast growth factor 1
ISO
DNA:SNP: :rs34010 (human)
RGD
PMID:24613087
RGD:11567264
NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
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Fgf10
fibroblast growth factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Fgf3
fibroblast growth factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
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Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs13317 (human)
CTD
PMID:17963255 , PMID:24613087
RGD:11567264
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Gdf6
growth differentiation factor 6
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:25741868
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Irf6
interferon regulatory factor 6
ISO
van der Woude syndrome, OMIM:119300 ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17041601 PMID:18836445 PMID:20436469 , PMID:12219090
RGD:1600214
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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Kif7
kinesin family member 7
ISO
DNA:SNPs:introns:rs4932238,rs4932240(human)
RGD
PMID:26602496
RGD:11553833
NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
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Mafb
MAF bZIP transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20436469
NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
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Msx1
msh homeobox 1
ISO
DNA:mutations, SNPs:multiple (human)
RGD
PMID:12807959
RGD:5132609
NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility no_association
ISO
DNA:SNP:cds:1958G>A(human)
RGD
PMID:25129243 , PMID:18261183
RGD:12910961 , RGD:12910962
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :c.677C>T(human)
CTD
PMID:16470725 , PMID:27387868
RGD:11565179
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Mthfs
methenyltetrahydrofolate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859337
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Nectin1
nectin cell adhesion molecule 1
ISO
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
RGD
PMID:10932188
RGD:1599795
NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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Nog
noggin
susceptibility
ISO
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human)
RGD
PMID:25339627 , PMID:25704602
RGD:12801482 , RGD:11251786
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Ntn1
netrin 1
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate
ClinVar
NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
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Plekha5
pleckstrin homology domain containing A5
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
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Plekha7
pleckstrin homology domain containing A7
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
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Pomt1
protein-O-mannosyltransferase 1
ISO
associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon
RGD
PMID:18640039
RGD:11532685
NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16405370
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Sdc2
syndecan 2
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
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Slc19a1
solute carrier family 19 member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :80G>A(human)
CTD
PMID:21254359 , PMID:18797703
RGD:11565176
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Spry2
sprouty RTK signaling antagonist 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17576140
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
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Sumo1
small ubiquitin-like modifier 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD ClinVar
PMID:16990542
NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470748
NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:25741868
NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD ClinVar
PMID:16688749
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: AEC syndrome ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532 , PMID:11159940
RGD:11568643
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Plekha5
pleckstrin homology domain containing A5
ISO
ClinVar Annotator: match by term: Bilateral cleft lip
ClinVar
PMID:25741868
NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1
OMIM ClinVar
PMID:8033105 PMID:27566442 PMID:28301459 PMID:32260281
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2 ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar OMIM
PMID:25741868 PMID:28301459 PMID:29805042
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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Meis2
Meis homeobox 2
ISO
ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation
ClinVar OMIM
PMID:24678003 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30291340
NCBI chr 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
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Tp63
tumor protein p63
susceptibility
ISO
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) ClinVar Annotator: match by OMIM:604292 ClinVar Annotator: match by null
ClinVar CTD OMIM
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 , PMID:10535733 , PMID:26470833 , PMID:12161593 , PMID:11903230
RGD:1600403 , RGD:11532814 , RGD:11568642 , RGD:11568640
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome DNA:missense mutation:exon:p.A346G (c.1037C>G) (human) DNA:frameshift mutation, missense mutations:exon:multiple DNA:missense mutations: :multiple DNA:missense mutation:exon:p.R280C (955C>T) (human) DNA:missense mutation:exon:p.R318H (mouse)
CTD ClinVar
PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 , PMID:25983622 , PMID:11462173 , PMID:19903181 , PMID:15324320 , PMID:23775923
RGD:11568639 , RGD:11568638 , RGD:11070288 , RGD:11568075 , RGD:11568074
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar OMIM
PMID:15605412 PMID:16764984 PMID:19504604 PMID:23657145 PMID:23812909 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Chst3
carbohydrate sulfotransferase 3
ISO
ClinVar Annotator: match by term: Larsen syndrome
ClinVar
PMID:28492532
NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
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Flnb
filamin B
ISO
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders ClinVar Annotator: match by term: Larsen syndrome, dominant type CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:150250
OMIM ClinVar CTD
PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 PMID:18322662 PMID:24123776 PMID:25741868 PMID:27048506 PMID:28492532
NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
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B3glct
beta 3-glucosyltransferase
ISO
ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:261540
OMIM ClinVar CTD
PMID:16909395 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532
NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
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Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Peters plus syndrome
ClinVar
PMID:25741868 PMID:29584859
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar Annotator: match by OMIM:119500
OMIM ClinVar
PMID:12219090 PMID:14757865 PMID:18478600 PMID:18617879 PMID:19036739 PMID:20803643 PMID:22488974 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:28492532 PMID:29453417
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650
ClinVar MouseDO
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO
ClinVar Annotator: match by term: Bartsocas-Papas syndrome ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type ClinVar Annotator: match by OMIM:263650
OMIM ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 PMID:12766194 PMID:12939657 PMID:15200513 PMID:15748593 PMID:15983386 PMID:17609671 PMID:18326838 PMID:18626511 PMID:19239083 PMID:19353588 PMID:19676059 PMID:20543567 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23775923 PMID:28492532 PMID:29956718
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation ClinVar Annotator: match by OMIM:120433
OMIM ClinVar
PMID:4997531 PMID:24462371 PMID:25741868
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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Grhl3
grainyhead-like transcription factor 3
ISS ISO
OMIM:119300 | OMIM:606713 ClinVar Annotator: match by term: Van der Woude syndrome
MouseDO ClinVar
PMID:25741868
NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Van der Woude syndrome ClinVar Annotator: match by OMIM:119300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12219090 PMID:12920575 PMID:14618417 PMID:14757865 PMID:15317890 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:16211254 PMID:16998136 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:18813858 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19623037 PMID:19734457 PMID:19842205 PMID:20184620 PMID:20301581 PMID:21045959 PMID:21468557 PMID:22440537 PMID:22488974 PMID:23154523 PMID:24936515 PMID:25326635 PMID:25547932 PMID:25548624 PMID:25741868 PMID:25784454 PMID:27243668 PMID:27834299 PMID:28492532 PMID:29453417
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
G
LOC100125367
hypothetical protein LOC100125367
ISO
ClinVar Annotator: match by term: Van der Woude syndrome
ClinVar
PMID:14618417
NCBI chr13:111,890,825...111,893,308
Ensembl chr13:111,890,894...111,893,306
G
Cfap57
cilia and flagella associated protein 57
ISO
ClinVar Annotator: match by null
ClinVar
PMID:21574244
NCBI chr 5:137,383,065...137,458,594 NCBI chr 5:137,652,118...137,670,067
Ensembl chr 5:137,383,048...137,458,184 Ensembl chr 5:137,383,048...137,458,184
G
Grhl3
grainyhead-like transcription factor 3
ISO
ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar Annotator: match by null
OMIM ClinVar
PMID:11781685 PMID:20184620 PMID:24360809 PMID:25741868 PMID:28492532
NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
syndrome
7053
orofacial cleft
124
cleft lip
54
Ankyloblepharon Filiforme Adnatum
0
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
0
Ausems Wittebol-Post Hennekam Syndrome
0
BILATERAL CLEFT LIP +
4
Baraitser Rodeck Garner syndrome
0
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
Craniosynostosis Mental Retardation Clefting Syndrome
0
EEC syndrome +
1
Hay Wells Syndrome Recessive Type
0
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
2
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
Van der Woude Syndrome 2
2
Van der Woude syndrome +
4
Yim Ebbin Syndrome
0
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
1
cleft palate, cardiac defects, and intellectual disabillity
1
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
uveal coloboma-cleft lip and palate-intellectual disability
1
Path 2
disease
16123
Developmental Diseases
9597
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8441
Congenital Abnormalities
4761
Musculoskeletal Abnormalities
1683
Craniofacial Abnormalities
1418
Maxillofacial Abnormalities
233
Jaw Abnormalities
221
orofacial cleft
124
cleft lip
54
Ankyloblepharon Filiforme Adnatum
0
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
0
Ausems Wittebol-Post Hennekam Syndrome
0
BILATERAL CLEFT LIP +
4
Baraitser Rodeck Garner syndrome
0
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
Craniosynostosis Mental Retardation Clefting Syndrome
0
EEC syndrome +
1
Hay Wells Syndrome Recessive Type
0
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
2
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
Van der Woude Syndrome 2
2
Van der Woude syndrome +
4
Yim Ebbin Syndrome
0
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
1
cleft palate, cardiac defects, and intellectual disabillity
1
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
uveal coloboma-cleft lip and palate-intellectual disability
1