Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr37:7,010,421...7,025,912 JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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 OMIM NCBI chr11:55,143,389...55,145,954 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 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987
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 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 OMIM NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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 1:93,845,874...94,008,266
Ensembl chr 1:93,846,269...93,957,359
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM NCBI chr 1:93,735,158...93,843,331
Ensembl chr 1:93,735,077...93,841,401
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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 IEA Cleft lip with or without cleft palate OMIA PMID:13875838, PMID:19115787, PMID:25798845, PMID:28738009 NCBI chr27:10,492,587...10,655,681
Ensembl chr27:10,492,301...10,675,655
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 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104
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 BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:polymorphism:cds:p.V152A(human)
RGD
ClinVar
PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868 RGD:13442495, RGD:13442497 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Harelip 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 ESRP2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 5:81,287,330...81,297,533
Ensembl chr 5:81,287,425...81,295,353
JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
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 DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17963255, PMID:24613087 RGD:11567264 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 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 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
JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G IRF6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12219090, PMID:17041601, PMID:18836445, PMID:20436469 RGD:1600214 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 DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 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 no_association
susceptibility
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183, PMID:25129243 RGD:12910961, RGD:12910962 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 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 NOG noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:11251786, RGD:12801482 NCBI chr 9:31,453,604...31,456,060 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 NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899
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 chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987
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 chr21:39,426,313...39,564,683
Ensembl chr21:39,427,401...39,645,585
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 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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 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 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 chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16990542 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
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 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
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 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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: Uranostaphyloschisis 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: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 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
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: 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 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 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: Uranostaphyloschisis ClinVar NCBI chr37:975,286...987,570
Ensembl chr37:976,559...985,772
JBrowse link
G IRF6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
RGD
ClinVar
CTD
PMID:12219090, PMID:12920575, PMID:17041601, PMID:20672350, PMID:25741868 RGD:12436724, RGD:1600214 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 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 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: Uranostaphyloschisis ClinVar NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 5:48,489,521...49,064,867
Ensembl chr 5:48,496,773...49,064,848
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 CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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 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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 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 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 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 short stature 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 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:25741868 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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 TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis 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 TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
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 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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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
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 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 OMIM 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 OMIM 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 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 chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
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 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 OMIM 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 OMIM 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 OMIM 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 DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.R318H (mouse)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 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 OMIM NCBI chr15:26,838,615...26,858,786
Ensembl chr15:26,834,670...26,858,803
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 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 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 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: Cleft palate, isolated ClinVar PMID:25326635, PMID:25533962, PMID:25741868, PMID:26596517, PMID:29023086, PMID:32581362 NCBI chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149
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 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 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 FLNB filamin B ISO OMIM NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
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 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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 chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:17238970 RGD:8662391 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681
JBrowse link
G HOXA2 homeobox A2 ISO OMIM NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239
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 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: 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 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 OMIM NCBI chr10:1,370,340...1,377,769 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 chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695
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:7,087,890...7,438,553
Ensembl chr  X:7,089,831...7,194,267
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 chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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 chr37:7,010,421...7,025,912 JBrowse link
G LEP leptin ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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 chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
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 chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G FST follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 4:61,779,252...61,785,666
Ensembl chr 4:61,779,259...61,783,260
JBrowse link
G GDF11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr10:142,039...152,537
Ensembl chr10:145,036...148,373
JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like ISO DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) RGD PMID:27229527 RGD:13831309 NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
JBrowse link
G LOXHD1 lipoxygenase homology domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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 chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:SNPs
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 chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC478000 phytanoyl-CoA hydroxylase-like ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:110,692,906...110,713,209
Ensembl chr 1:110,697,911...110,754,296
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 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO OMIM NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
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 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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 chr 9:26,001,287...26,002,708
Ensembl chr 9:25,976,680...26,002,323
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 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
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 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
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 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
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 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
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 chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249
JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868, PMID:29584859 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
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 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
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 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 OMIM 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 OMIM NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:25,003,810...25,818,264
Ensembl chr 2:25,004,580...25,520,136
JBrowse link
G CLU clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr29:16,562,234...16,579,082
Ensembl chr29:16,562,234...16,578,847
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CUL1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr16:1,995,637...2,086,853
Ensembl chr16:1,995,960...2,052,864
JBrowse link
G CUL4A cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:60,624,215...60,667,844
Ensembl chr22:60,624,241...60,666,616
JBrowse link
G DERL1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:21,423,501...21,452,594
Ensembl chr13:21,419,352...21,482,133
JBrowse link
G DLA-12 MHC class I DLA-12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19629158 NCBI chr12:933,321...936,671
Ensembl chr12:932,613...987,561
JBrowse link
G DLA-64 MHC class I DLA-64 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)
OMIM
CTD
RGD
PMID:15057820, PMID:15743917, PMID:16538176, PMID:18855540, PMID:19018717, PMID:19694795, PMID:19915237, PMID:20235791, PMID:20485159, PMID:21428768, PMID:25099164 RGD:7364874 NCBI chr12:983,573...986,969 JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr14:48,163,218...48,610,626
Ensembl chr14:48,164,049...48,730,248
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G FBXO6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:84,549,519...84,554,176
Ensembl chr 2:84,549,560...84,580,756
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr30:21,123,333...21,229,907
Ensembl chr30:21,126,043...21,229,870
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NUCB1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:107,453,965...107,476,458
Ensembl chr 1:107,454,636...107,476,375
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:11,783,422...11,787,624
Ensembl chr 9:11,783,466...11,787,617
JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 6:74,932,789...74,986,573 JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RBX1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:24,265,733...24,280,253
Ensembl chr10:24,266,408...24,280,235
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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 chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CYB5A cytochrome b5 type A (microsomal) ISO RGD PMID:10406239 RGD:11352692 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932
JBrowse link
G NBN nibrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
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 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 ClinVar PMID:14618417 NCBI chr 7:8,440,771...8,446,650
Ensembl chr 7:8,444,907...8,446,604
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:25741868 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 OMIM 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 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 OMIM NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496
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 chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    sensory system disease 4836
      mouth disease 710
        lip disease 171
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 3
          Phlebectasia of Lips 0
          cheilitis + 3
          cleft lip + 59
          orofacial cleft + 127
          stomatitis + 42
Path 2
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        sensory system disease 4836
          mouth disease 710
            lip disease 171
              Hamartomatous Lip 0
              Herpes Labialis 0
              Lip Neoplasms + 3
              Phlebectasia of Lips 0
              cheilitis + 3
              cleft lip + 59
              orofacial cleft + 127
              stomatitis + 42
paths to the root

NHLBI Logo

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