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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 palate
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Accession:DOID:674 term browser browse the term
Definition:An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. (DO)
Synonyms:exact_synonym: CP;   CPI;   cleft palates;   palatoschisis;   uranostaphyloschisis
 narrow_synonym: NONSYNDROMIC CLEFT PALATE
 primary_id: MESH:D002972
 alt_id: OMIM:119540
 xref: EFO:0003920;   ICD10CM:Q35;   ICD9CM:749.0;   MONDO:0016064;   NCI:C87069
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:49,426,228...49,449,448 JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960 		JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO DNA:insertion
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9787075 RGD:11576291 NCBI chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014 		JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)		 RGD PMID:20672350 PMID:22112025 RGD:12436724 RGD:12904711 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)		 CTD
RGD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275 		JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923 		JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G GOLGB1 golgin B1 ISO MouseDO NCBI chr33:24,927,631...25,025,187
Ensembl chr33:24,928,729...25,025,090 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:25741868 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr37:975,286...987,570
Ensembl chr37:976,559...985,772 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:12920575 PMID:25741868 NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G LOC403934 cell division cycle 42 ISO MouseDO NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211 		JBrowse link
G MEIS2 Meis homeobox 2 ISO DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335 		JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations, SNPs:multiple (human)		 CTD
RGD		 PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 RGD:5132609 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:57,480,935...57,514,836 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G MYO19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:36,383,777...36,429,730
Ensembl chr 9:36,349,191...36,428,091 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30345601 NCBI chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:36,419,807...36,424,596
Ensembl chr 9:36,421,216...36,424,218 		JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
G PRMT1 protein arginine methyltransferase 1 ISO MouseDO NCBI chr 1:106,849,864...106,859,896
Ensembl chr 1:106,849,864...106,874,075 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151 		JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More... NCBI chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		JBrowse link
G SHOX2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr23:51,484,696...51,492,586
Ensembl chr23:51,484,421...51,492,566 		JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr31:31,879,483...31,929,531
Ensembl chr31:31,879,360...31,930,359 		JBrowse link
G SIX2 SIX homeobox 2 ISO MouseDO NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO MouseDO NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:25556186 PMID:30121012 RGD:155631306 RGD:155641231 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr21:17,819,846...20,234,096
Ensembl chr21:19,732,991...20,230,305 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:7493022 PMID:17097601 PMID:26971374 RGD:12801424 NCBI chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM
ClinVar		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr 1:75,499,334...75,511,525
Ensembl chr 1:75,499,393...75,511,425 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr11:55,143,389...55,145,954 JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 susceptibility ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 ClinVar
OMIM		 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335 		JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr21:22,051,140...22,059,714
Ensembl chr21:22,051,920...22,057,632 		JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM:119570 MouseDO NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr12:512,738...517,154 JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734 NCBI chr 7:54,845,121...55,003,372
Ensembl chr 7:54,847,522...55,001,836 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr15:26,838,615...26,858,786
Ensembl chr15:26,834,670...26,858,803 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 NCBI chr 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 PMID:27018475 PMID:28492532 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149 		JBrowse link
Kapur Toriello Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Kapur-Toriello syndrome ClinVar PMID:25741868 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate OMIM
ClinVar		 PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr12:512,738...517,154 JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr10:1,370,340...1,377,769 JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:7,087,890...7,438,553
Ensembl chr  X:7,089,831...7,194,267 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM
ClinVar		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251 		JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7H1orf74 chromosome 7 C1orf74 homolog ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr 7:8,440,771...8,446,650
Ensembl chr 7:8,444,907...8,446,604 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr 7:14,892,165...15,267,418
Ensembl chr 7:14,707,801...15,267,422 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:25741868 PMID:36901693 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 OMIM
ClinVar		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 NCBI chr15:16,903,470...16,977,825
Ensembl chr15:16,903,470...16,977,408 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 OMIM
ClinVar		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G STPG1 sperm tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:75,236,800...75,286,872
Ensembl chr 2:75,237,141...75,287,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    physical disorder 4879
      orofacial cleft 151
        cleft palate 114
          Aase Smith Syndrome 0
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Ankyloblepharon Filiforme Adnatum 1
          Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
          Au-Kline Syndrome 5
          Aughton Syndrome 0
          Baetz-Greenwalt Syndrome 0
          Bamforth-Lazarus syndrome 2
          Baraitser Rodeck Garner syndrome 0
          Basel-Vanagaite-Smirin-Yosef syndrome 1
          Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 0
          Cleft Palate with Ankyloglossia 0
          Cleft Palate, Deafness, and Oligodontia 0
          Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
          Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
          Coloboma of Macula and Skeletal Anomalies 0
          Craniosynostosis Mental Retardation Clefting Syndrome 0
          Crumpled Helices and Small Mouth 0
          Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
          Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
          EEC syndrome + 1
          Ectrodactyly-Cleft Palate Syndrome 0
          Emanuel Syndrome 0
          Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
          Faciocardiorenal Syndrome 0
          Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 0
          Feingold Trainer Syndrome 0
          Genito Palato Cardiac Syndrome 0
          Halal Syndrome 0
          Hardikar Syndrome 1
          Hay Wells Syndrome Recessive Type 0
          Ho Kaufman Mcalister Syndrome 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
          Iida Kannari Syndrome 0
          Kallmann Syndrome 2 with Cleft Lip or Palate 0
          Kapur Toriello Syndrome 1
          Kniest dysplasia 1
          Kuster Syndrome 0
          Ladda Zonana Ramer Syndrome 0
          Larsen syndrome 4
          Lowry Maclean syndrome 0
          Macrosomia with Lethal Microphthalmia 0
          Martinez Monasterio Pinheiro Syndrome 0
          McPherson Clemens Syndrome 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          Microtia, Hearing Impairment, and Cleft Palate 2
          Multiple Epiphyseal Dysplasia with Robin Phenotype 0
          Native American myopathy 3
          Oculopalatocerebral Syndrome 0
          Omphalocele, Cleft Palate Syndrome Lethal 0
          Opitz GBBB syndrome 1
          PARC Syndrome 0
          Palant Cleft Palate Syndrome 0
          Periventricular Nodular Heterotopia 7 1
          Piepkorn Karp Hickok syndrome 0
          Pilotto Syndrome 0
          Raine Syndrome 1
          Rapp-Hodgkin syndrome 1
          Reardon Hall Slaney syndrome 0
          Rosselli-Gulienetti Syndrome 0
          Sakoda Complex 0
          Samson Viljoen Syndrome 0
          Say Syndrome 0
          Schilbach-Rott Syndrome 0
          Schrander-Stumpel Theunissen Hulsmans Syndrome 0
          Selective Tooth Agenesis with Orofacial Cleft 0
          Seres-Santamaria Arimany Muniz Syndrome 0
          Van der Woude Syndrome 2 3
          Van der Woude syndrome + 6
          X-linked cleft palate with or without ankyloglossia 0
          Yim Ebbin Syndrome 0
          Zadik Barak Levin Syndrome 0
          acrocardiofacial syndrome 0
          ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
          blepharocheilodontic syndrome + 2
          cleft palate, cardiac defects, and intellectual disabillity 1
          cleft soft palate 2
          distal arthrogryposis type 3 1
          frontonasal dysplasia 3 1
          hypertelorism, microtia, facial clefting syndrome 0
          isolated cleft palate 4
          multiple benign circumferential skin creases on limbs + 2
          popliteal pterygium syndrome + 3
          spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
          uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
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  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        Congenital Abnormalities 7448
          Musculoskeletal Abnormalities 3258
            Craniofacial Abnormalities 2636
              Maxillofacial Abnormalities 307
                Jaw Abnormalities 260
                  orofacial cleft 151
                    cleft palate 114
                      Aase Smith Syndrome 0
                      Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                      Ankyloblepharon Filiforme Adnatum 1
                      Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                      Au-Kline Syndrome 5
                      Aughton Syndrome 0
                      Baetz-Greenwalt Syndrome 0
                      Bamforth-Lazarus syndrome 2
                      Baraitser Rodeck Garner syndrome 0
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
                      Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 0
                      Cleft Palate with Ankyloglossia 0
                      Cleft Palate, Deafness, and Oligodontia 0
                      Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
                      Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
                      Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
                      Coloboma of Macula and Skeletal Anomalies 0
                      Craniosynostosis Mental Retardation Clefting Syndrome 0
                      Crumpled Helices and Small Mouth 0
                      Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
                      Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
                      EEC syndrome + 1
                      Ectrodactyly-Cleft Palate Syndrome 0
                      Emanuel Syndrome 0
                      Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
                      Faciocardiorenal Syndrome 0
                      Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 0
                      Feingold Trainer Syndrome 0
                      Genito Palato Cardiac Syndrome 0
                      Halal Syndrome 0
                      Hardikar Syndrome 1
                      Hay Wells Syndrome Recessive Type 0
                      Ho Kaufman Mcalister Syndrome 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
                      Iida Kannari Syndrome 0
                      Kallmann Syndrome 2 with Cleft Lip or Palate 0
                      Kapur Toriello Syndrome 1
                      Kniest dysplasia 1
                      Kuster Syndrome 0
                      Ladda Zonana Ramer Syndrome 0
                      Larsen syndrome 4
                      Lowry Maclean syndrome 0
                      Macrosomia with Lethal Microphthalmia 0
                      Martinez Monasterio Pinheiro Syndrome 0
                      McPherson Clemens Syndrome 0
                      Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                      Microtia, Hearing Impairment, and Cleft Palate 2
                      Multiple Epiphyseal Dysplasia with Robin Phenotype 0
                      Native American myopathy 3
                      Oculopalatocerebral Syndrome 0
                      Omphalocele, Cleft Palate Syndrome Lethal 0
                      Opitz GBBB syndrome 1
                      PARC Syndrome 0
                      Palant Cleft Palate Syndrome 0
                      Periventricular Nodular Heterotopia 7 1
                      Piepkorn Karp Hickok syndrome 0
                      Pilotto Syndrome 0
                      Raine Syndrome 1
                      Rapp-Hodgkin syndrome 1
                      Reardon Hall Slaney syndrome 0
                      Rosselli-Gulienetti Syndrome 0
                      Sakoda Complex 0
                      Samson Viljoen Syndrome 0
                      Say Syndrome 0
                      Schilbach-Rott Syndrome 0
                      Schrander-Stumpel Theunissen Hulsmans Syndrome 0
                      Selective Tooth Agenesis with Orofacial Cleft 0
                      Seres-Santamaria Arimany Muniz Syndrome 0
                      Van der Woude Syndrome 2 3
                      Van der Woude syndrome + 6
                      X-linked cleft palate with or without ankyloglossia 0
                      Yim Ebbin Syndrome 0
                      Zadik Barak Levin Syndrome 0
                      acrocardiofacial syndrome 0
                      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                      blepharocheilodontic syndrome + 2
                      cleft palate, cardiac defects, and intellectual disabillity 1
                      cleft soft palate 2
                      distal arthrogryposis type 3 1
                      frontonasal dysplasia 3 1
                      hypertelorism, microtia, facial clefting syndrome 0
                      isolated cleft palate 4
                      multiple benign circumferential skin creases on limbs + 2
                      popliteal pterygium syndrome + 3
                      spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
                      uveal coloboma-cleft lip and palate-intellectual disability 1
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