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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:lip disease
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Accession:DOID:9297 term browser browse the term
Definition:A mouth disease located_in the lip. (DO)
Synonyms:exact_synonym: disease of lips;   lip diseases
 primary_id: MESH:D008047
 xref: ICD10CM:K13.0;   ICD9CM:528.5;   NCI:C26818
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
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 OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
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 OMIM NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,743...119,754,650
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 chr13:104,946,732...105,007,568 JBrowse link
G FOXE1 forkhead box E1 ISO OMIM NCBI chr 1:239,727,769...239,732,461
Ensembl chr 1:239,727,855...239,728,976
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 OMIM NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,817,236...54,851,834
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXC13 homeobox C13 IEA Ectodermal dysplasia-9 OMIA NCBI chr 5:19,151,096...19,159,008
Ensembl chr 5:19,151,169...19,157,657
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,818...54,017,186
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 ISO OMIM NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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 OMIM NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMP1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 1:216,312,827...216,382,063
Ensembl chr 1:216,312,627...216,396,325
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM NCBI chr 1:216,382,179...216,494,815
Ensembl chr 1:216,318,901...216,494,793
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,632...123,331,144
JBrowse link
G 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 4:123,082,137...123,158,275
Ensembl chr 4:123,085,922...123,158,928
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
RGD
ClinVar
PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868 RGD:13442495, RGD:13442497 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G 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
RGD
ClinVar
PMID:15831593, PMID:25741868, PMID:28492532, PMID:29805042 RGD:1599548 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,077...90,767,487
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 6:28,804,425...28,814,478
Ensembl chr 6:28,802,655...28,812,963
JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,390...144,241,323
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,878...122,542,224
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032
JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G IRF6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD
ClinVar
RGD
PMID:12219090, PMID:17041601, PMID:18836445, PMID:20436469 RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:48,717,518...48,873,492 JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr17:43,408,390...43,411,782 JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183, PMID:25129243 RGD:12910961, RGD:12910962 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)
CTD
RGD
PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
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 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NOG noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:11251786, RGD:12801482 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr12:54,089,444...54,292,191
Ensembl chr12:54,089,472...54,308,355
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,818...54,017,186
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:42,081,546...42,311,526
Ensembl chr 2:42,081,530...42,311,547
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,002,749...40,129,697
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)
CTD
RGD
PMID:18797703, PMID:21254359 RGD:11565176 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G 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 chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,867...85,017,820
JBrowse link
G 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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO OMIM NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G BNC2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,924,881...206,372,152
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD
RGD
PMID:9787075 RGD:11576291 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,776,751
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,307,610...111,351,712
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :rs3129208 (human)
DNA:SNPs, haplotypes: :multiple
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,496...25,234,888
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,843
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,077...90,767,487
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,878...122,542,224
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,294,885...20,721,766
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,155...63,924,535
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr15:94,956,535...94,987,286
Ensembl chr15:94,956,532...94,987,279
JBrowse link
G IRF6 interferon regulatory factor 6 ISO DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12219090, PMID:12920575, PMID:17041601, PMID:20672350, PMID:25741868 RGD:12436724, RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:48,717,518...48,873,492 JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,234...48,486,729
JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12163415, PMID:12701100, PMID:12807959, PMID:15301380 RGD:5132609 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
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 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
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 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 6:150,834,002...151,229,773
Ensembl chr 6:150,835,464...151,426,550
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,710...63,346,310
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 5:18,436,267...18,458,625
Ensembl chr 5:18,436,267...18,458,625
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 chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,241
JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr13:75,285,482...75,390,314
Ensembl chr13:75,287,111...75,390,525
JBrowse link
G SATB2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:17377962, PMID:19170718, PMID:23925499, PMID:24301056, PMID:25741868, PMID:28492532, PMID:29023086, PMID:30311386 NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,002,749...40,129,697
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr13:97,879,586...97,892,276
Ensembl chr13:97,879,281...97,890,447
JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr13:200,354,963...200,408,890
Ensembl chr13:200,354,920...200,403,247
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
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:25741868 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TBX22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
RGD
ClinVar
PMID:12374769, PMID:25741868 RGD:724722 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 9:13,040,615...13,826,957 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
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 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,867...85,017,820
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
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 OMIM NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012
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 OMIM NCBI chr 9:10,802,228...10,815,892
Ensembl chr 9:10,801,946...10,817,930
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 OMIM NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
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 OMIM NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,245,743...23,294,218
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 OMIM NCBI chr 6:118,816,967...118,987,762
Ensembl chr 6:118,817,947...119,019,458
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 OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
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 OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
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 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:missense mutation:exon:p.R318H (mouse)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
CTD
ClinVar
RGD
PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:15324320, 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:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206 RGD:11070288, RGD:11568074, RGD:11568075, RGD:11568638, RGD:11568639 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
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 OMIM NCBI chr 5:96,761,683...96,785,125
Ensembl chr 5:96,762,592...96,784,972
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 OMIM NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090, PMID:24728327, PMID:27153395, PMID:28492532 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:25326635, PMID:25533962, PMID:25741868, PMID:26596517, PMID:29023086, PMID:32581362 NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
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 OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,529
JBrowse link
G FLNB filamin B ISO OMIM NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
Lip Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:17238970 RGD:8662391 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:17238970 RGD:8662391 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,548...45,480,413
JBrowse link
G HOXA2 homeobox A2 ISO OMIM NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,419...45,473,347
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: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266, PMID:25741868 NCBI chr18:10,868,208...10,966,801
Ensembl chr18:10,901,568...10,966,410
JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394, PMID:8432414, PMID:8900242, PMID:10084586, PMID:11463381, PMID:25741868, PMID:27896077, PMID:28492532 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO OMIM NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,008...22,556,194
JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO OMIM NCBI chr14:49,332,937...49,463,965 JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO OMIM NCBI chr  X:7,235,386...7,906,049
Ensembl chr  X:7,237,942...7,620,011
JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO associated with Behcet Syndrome;protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G LEP leptin ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) RGD PMID:21719445 RGD:5147916 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:27229527, PMID:28543373 RGD:13831307, RGD:13831309 NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,758
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:2449335, PMID:12800196, PMID:20921021, PMID:22470475, PMID:23197654, PMID:24033266, PMID:24493355, PMID:24728327, PMID:25593300, PMID:25637381, PMID:25741868, PMID:25980754, PMID:26072394, PMID:26123647, PMID:26467025, PMID:26483394, PMID:26759166, PMID:27146957, PMID:27153395, PMID:27443514, PMID:27616075, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28492532, PMID:28640387, PMID:28944238, PMID:29348693 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G FST follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,874...32,811,421
JBrowse link
G GDF11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 5:21,191,322...21,199,024
Ensembl chr 5:21,191,142...21,201,818
JBrowse link
G LOXHD1 lipoxygenase homology domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,079,709...96,276,992
JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217, PMID:23806086, PMID:26963285 NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,689
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
DNA:SNPs: :rs3752462, rs2009930 (human)
RGD PMID:17337617, PMID:18716610, PMID:19320731, PMID:19891592 RGD:12798509, RGD:12798511, RGD:12798512, RGD:12798514 NCBI chr 5:11,365,603...11,456,475 JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) RGD PMID:27229527 RGD:13831309 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 6:51,161,320...51,178,464 JBrowse link
orofacial cleft 10 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: Orofacial cleft 10 ClinVar PMID:26346622, PMID:27834299, PMID:28762674, PMID:28762675, PMID:28762676 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO OMIM NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO OMIM NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX4 distal-less homeobox 4 ISO OMIM NCBI chr12:26,155,520...26,161,310
Ensembl chr12:26,155,512...26,161,298
JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX1 msh homeobox 1 ISO OMIM NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188, PMID:11559849 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO OMIM NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,630...103,378,623
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073, PMID:25683118 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
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 OMIM NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase ISO OMIM NCBI chr11:7,792,160...7,907,052
Ensembl chr11:7,792,367...7,907,052
JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868, PMID:29584859 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
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 OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007
JBrowse link
Popliteal Pterygium Syndrome, Lethal Type 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 OMIM NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007
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 OMIM NCBI chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
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 OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:60,504,925...60,867,631
Ensembl chr10:60,506,482...61,084,861
JBrowse link
G CLU clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:67,740,528...67,758,153
Ensembl chr 4:67,738,939...67,758,150
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G CUL1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:109,454,523...109,559,114
Ensembl chr 9:109,454,534...109,557,649
JBrowse link
G CUL4A cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:78,557,030...78,588,964
Ensembl chr11:78,557,070...78,589,194
JBrowse link
G DERL1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:16,310,407...16,341,405
Ensembl chr 4:16,310,364...16,346,745
JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr18:36,755,026...37,336,095 JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G FBXO6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:71,755,335...71,774,264 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,937...116,070,317
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NUCB1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:54,186,610...54,209,457
Ensembl chr 6:54,180,038...54,211,156
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,048...59,450,150
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:15,101,946...15,106,326
Ensembl chr12:15,097,650...15,106,205
JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,954...142,161,292
JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RBX1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:7,500,492...7,515,388 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO RGD PMID:10569634 RGD:5130878 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CYB5A cytochrome b5 type A ISO RGD PMID:10406239 RGD:11352692 NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,783,623
JBrowse link
G NBN nibrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,659...46,903,999
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,686...50,425,710
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 OMIM NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9H1orf74 chromosome 9 C1orf74 homolog ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr 9:133,187,701...133,251,760
Ensembl chr 9:133,187,740...133,253,072
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:25741868 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G IRF6 interferon regulatory factor 6 ISO OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL3 grainyhead like transcription factor 3 ISO OMIM NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
Vesicular Stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26418342 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478
JBrowse link
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO OMIM NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    sensory system disease 4799
      mouth disease 705
        lip disease 169
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 3
          Phlebectasia of Lips 0
          cheilitis + 3
          cleft lip + 58
          orofacial cleft + 127
          stomatitis + 40
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        sensory system disease 4799
          mouth disease 705
            lip disease 169
              Hamartomatous Lip 0
              Herpes Labialis 0
              Lip Neoplasms + 3
              Phlebectasia of Lips 0
              cheilitis + 3
              cleft lip + 58
              orofacial cleft + 127
              stomatitis + 40
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.