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:Foot Deformities
go back to main search page
Accession:DOID:9003938 term browser browse the term
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the foot.
Synonyms:exact_synonym: Foot Deformity;   Metatarsal Deformities;   Metatarsal Deformity
 primary_id: MESH:D005530;   RDO:0000726
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Foot Deformities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:30311386 NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:20008656, PMID:30311386 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO
IEA
OMIM:200500
ClinVar Annotator: match by OMIM:200500
OMIM
MouseDO
ClinVar
PMID:11090342 NCBI chr 5:29,229,802...29,378,421
Ensembl chr 5:29,229,802...29,378,390
JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113300
OMIM
ClinVar
CTD
PMID:12620993, PMID:12649808, PMID:16314414, PMID:24239177, PMID:25741868 NCBI chr 2:74,668,225...74,671,603
Ensembl chr 2:74,668,310...74,671,599
JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone-like peptide ISO ClinVar Annotator: match by OMIM:613382 OMIM
ClinVar
PMID:20170896 NCBI chr 6:147,252,109...147,264,013
Ensembl chr 6:147,252,101...147,264,183
JBrowse link
Bunion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:130,112,416...130,154,233
Ensembl chr 2:130,112,416...130,154,232
JBrowse link
Camptosynpolydactyly, Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO OMIM NCBI chr11:76,672,470...76,673,676
Ensembl chr11:76,672,470...76,673,676
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: CHITAYAT SYNDROME ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 7:25,242,560...25,251,104
Ensembl chr 7:25,242,561...25,250,761
JBrowse link
clubfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4932438A13Rik RIKEN cDNA 4932438A13 gene ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:29290337, PMID:31680349 NCBI chr 3:36,863,063...37,053,033
Ensembl chr 3:36,863,104...37,053,033
JBrowse link
G Aars alanyl-tRNA synthetase ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr 8:111,027,778...111,055,569
Ensembl chr 8:111,033,144...111,057,664
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:19466712, PMID:19777577, PMID:25741868, PMID:26092869, PMID:28492532, PMID:30311386 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 2:118,926,497...118,928,585
Ensembl chr 2:118,926,496...118,928,585
JBrowse link
G Cltc clathrin, heavy polypeptide (Hc) ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr11:86,694,352...86,757,567
Ensembl chr11:86,694,351...86,757,565
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 7:143,823,167...143,848,410
Ensembl chr 7:143,823,145...143,848,410
JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
JBrowse link
G Fkbp8 FK506 binding protein 8 IEA OMIM:119800 MouseDO NCBI chr 8:70,527,721...70,535,328
Ensembl chr 8:70,527,724...70,535,328
JBrowse link
G Flnb filamin, beta ISO DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) RGD PMID:27395407 RGD:12791025 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 IEA OMIM:119800 MouseDO NCBI chr 5:96,373,777...96,784,733
Ensembl chr 5:96,373,955...96,784,728
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Grip1 glutamate receptor interacting protein 1 IEA OMIM:119800 MouseDO NCBI chr10:119,453,238...120,087,267
Ensembl chr10:119,453,830...120,087,261
JBrowse link
G Hoxd12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 2:74,675,013...74,677,705
Ensembl chr 2:74,675,013...74,677,705
JBrowse link
G Hoxd13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 2:74,668,225...74,671,603
Ensembl chr 2:74,668,310...74,671,599
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477, PMID:19668216, PMID:25741868, PMID:28492532, PMID:29186038 NCBI chr 2:26,396,249...26,409,244
Ensembl chr 2:26,396,249...26,409,203
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 2:33,560,965...33,641,208
Ensembl chr 2:33,560,965...33,640,511
Ensembl chr 2:33,560,965...33,640,511
JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 5:118,560,330...118,765,438
Ensembl chr 5:118,560,679...118,765,438
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Myh13 myosin, heavy polypeptide 13, skeletal muscle ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr11:67,327,103...67,371,587
Ensembl chr11:67,321,658...67,371,586
JBrowse link
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr11:67,277,124...67,308,634
Ensembl chr11:67,277,124...67,308,634
JBrowse link
G Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr11:67,224,196...67,237,281
Ensembl chr11:67,211,256...67,237,573
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:101,640,011...101,684,351
Ensembl chr  X:101,640,060...101,684,351
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:9090383, PMID:11781871, PMID:12325024, PMID:23572185, PMID:25741868, PMID:26408048, PMID:28492532, PMID:30311386 NCBI chr10:19,860,090...19,907,674
Ensembl chr10:19,853,900...19,907,689
JBrowse link
G Pitx1 paired-like homeodomain transcription factor 1 ISO
IEA
OMIM:119800
ClinVar Annotator: match by OMIM:119800
OMIM
MouseDO
ClinVar
PMID:18950742, PMID:22258522 NCBI chr13:55,825,044...55,836,190
Ensembl chr13:55,825,051...55,836,192
JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus 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 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:11992261, PMID:12717436, PMID:12960218, PMID:15001945, PMID:15248152, PMID:15761018, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16124853, PMID:16358218, PMID:16377799, PMID:16804314, PMID:17020470, PMID:17497712, PMID:17661820, PMID:18678287, PMID:18854871, PMID:19020799, PMID:19077116, PMID:20718194, PMID:21340158, PMID:22190897, PMID:22465605, PMID:22781091, PMID:24033266, PMID:24451042, PMID:25595571, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26822237, PMID:27626068, PMID:28492532, PMID:30311386 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ret ret proto-oncogene IEA OMIM:119800 MouseDO NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:18253, PMID:7299413, PMID:16380615, PMID:17033962, PMID:17365175, PMID:17483490, PMID:30311386 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 IEA OMIM:119800 MouseDO NCBI chr19:3,896,050...3,907,133
Ensembl chr19:3,896,050...3,907,133
JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:16007086, PMID:16007087, PMID:16630947, PMID:16782407, PMID:17192819, PMID:17392797, PMID:17392798, PMID:17464555, PMID:17492055, PMID:17917015, PMID:17983875, PMID:18981294, PMID:19210517, PMID:19392801, PMID:19629655, PMID:19779048, PMID:20006554, PMID:20889194, PMID:21419480, PMID:21458042, PMID:21547394, PMID:21850030, PMID:22076597, PMID:22627058, PMID:22697072, PMID:22699762, PMID:22884984, PMID:22983507, PMID:23237420, PMID:24033266, PMID:24051380, PMID:25174870, PMID:25326637, PMID:25741868, PMID:26100089, PMID:26122175, PMID:26727773, PMID:27123465, PMID:27577878, PMID:28492532, PMID:29114388, PMID:29146883, PMID:29555771, PMID:29867916 NCBI chr11:61,126,283...61,153,170
Ensembl chr11:61,126,755...61,149,372
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:20037587, PMID:20037588, PMID:21288981, PMID:21454511, PMID:24319099, PMID:24789864, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus 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 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362, PMID:25741868, PMID:30311386 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Tubb4a tubulin, beta 4A class IVA ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr17:57,080,061...57,087,600
Ensembl chr17:57,080,066...57,087,782
JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 9:73,479,422...74,008,155
Ensembl chr 9:73,479,422...73,968,966
JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:25741868 NCBI chr 3:102,153,583...102,204,744
Ensembl chr 3:102,153,583...102,204,693
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 5:65,199,696...65,260,415
Ensembl chr 5:65,199,696...65,260,415
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:30311386 NCBI chr 1:181,173,226...181,220,921
Ensembl chr 1:181,173,228...181,212,001
JBrowse link
G Zc4h2 zinc finger, C4H2 domain containing ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:95,639,187...95,658,509
Ensembl chr  X:95,639,193...95,658,509
JBrowse link
Congenital Foot Deformities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:151,046,141...151,089,686
Ensembl chr  X:151,046,150...151,089,521
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple RGD PMID:25394172 RGD:11098154 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Lmna lamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Pthlh parathyroid hormone-like peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 6:147,252,109...147,264,013
Ensembl chr 6:147,252,101...147,264,183
JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Congenital vertical talus ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23105016, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 1:139,176,649...139,379,316
Ensembl chr 1:139,197,056...139,377,100
JBrowse link
G Hoxd10 homeobox D10 ISO ClinVar Annotator: match by OMIM:192950 OMIM
ClinVar
PMID:15146389, PMID:16450407 NCBI chr 2:74,684,273...74,695,106
Ensembl chr 2:74,691,924...74,695,105
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
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 LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr16:25,801,704...25,802,304 JBrowse link
G Trp63 transformation related protein 63 susceptibility ISO
IEA
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
OMIM:604292
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar Annotator: match by OMIM:604292
ClinVar Annotator: match by null
ClinVar
CTD
MouseDO
OMIM
PMID:8737655, PMID:9028452, PMID:9443880, PMID:10535733, PMID:10839977, PMID:10936828, PMID:11462173, PMID:12161593, PMID:12525544, PMID:12838557, PMID:12939657, PMID:16691622, PMID:17041931, PMID:17431922, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21204238, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:10535733, PMID:26470833, PMID:12161593, PMID:11903230 RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
ClinVar Annotator: match by OMIM:615539
OMIM
ClinVar
PMID:23704329, PMID:25703627, PMID:28492532 NCBI chr10:34,151,389...34,208,282
Ensembl chr10:34,151,393...34,207,715
JBrowse link
Eiken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:600002
ClinVar Annotator: match by term: Eiken skeletal dysplasia
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar
OMIM
PMID:15525660, PMID:25741868, PMID:29987841, PMID:15525660 RGD:12910707 NCBI chr 9:110,722,085...110,747,145
Ensembl chr 9:110,722,085...110,747,145
JBrowse link
Flatfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:16086317, PMID:30311386 NCBI chr 7:45,974,110...46,030,491
Ensembl chr 7:45,967,555...46,030,302
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
G Ap4e1 adaptor-related protein complex AP-4, epsilon 1 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 2:127,008,679...127,069,814
Ensembl chr 2:127,008,717...127,067,909
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:11007540, PMID:20179744, PMID:22496037, PMID:22522174, PMID:26747767, PMID:27390512, PMID:28492532, PMID:29453956, PMID:30181686, PMID:30311386 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Foxp2 forkhead box P2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:14,901,349...15,441,977
Ensembl chr 6:14,901,349...15,441,977
JBrowse link
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
JBrowse link
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 1:163,384,903...163,403,669
Ensembl chr 1:163,384,908...163,403,669
JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Talipes calcaneovalgus
CTD
ClinVar
PMID:15146389, PMID:16450407, PMID:24239177, PMID:30311386 NCBI chr 2:74,684,273...74,695,106
Ensembl chr 2:74,691,924...74,695,105
JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr13:106,958,996...107,022,355
Ensembl chr13:106,958,996...107,022,126
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr  X:38,399,647...38,456,460
Ensembl chr  X:38,401,357...38,456,454
JBrowse link
G Letm1 leucine zipper-EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 5:33,739,673...33,782,717
Ensembl chr 5:33,739,673...33,782,817
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:23929671, PMID:25741868, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 9:78,443,479...78,474,165
Ensembl chr 9:78,448,208...78,475,348
JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:104,076,761...104,201,783
Ensembl chr  X:104,077,434...104,201,185
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:101,299,179...101,321,350
Ensembl chr  X:101,299,168...101,325,963
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:8088845, PMID:8098245, PMID:8268925, PMID:8889590, PMID:10472529, PMID:10479481, PMID:11180595, PMID:12409276, PMID:12501224, PMID:12655552, PMID:15557004, PMID:17935162, PMID:19292873, PMID:19394257, PMID:21147011, PMID:21871829, PMID:22300847, PMID:22513348, PMID:22763404, PMID:23500595, PMID:23792259, PMID:24048906, PMID:25596310, PMID:25741868, PMID:26666653, PMID:26803807, PMID:28492532, PMID:30311386 NCBI chr10:87,521,795...87,584,137
Ensembl chr10:87,521,795...87,584,136
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:28492532, PMID:30311386 NCBI chr15:100,869,863...101,045,938
Ensembl chr15:100,869,858...101,045,938
JBrowse link
G Sec23b SEC23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chr 2:144,556,229...144,590,753
Ensembl chr 2:144,556,229...144,590,749
JBrowse link
G Set SET nuclear oncogene ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 2:30,061,996...30,072,577
Ensembl chr 2:30,057,378...30,072,577
JBrowse link
G Tubb2a tubulin, beta 2A class IIA ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chr13:34,074,278...34,078,008
Ensembl chr13:34,074,274...34,078,007
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 2:44,983,512...45,117,442
Ensembl chr 2:44,983,632...45,117,395
JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a wingless-type MMTV integration site family, member 7A ISO
IEA
OMIM:228930
ClinVar Annotator: match by OMIM:228930
OMIM
MouseDO
ClinVar
PMID:9128926, PMID:16826533 NCBI chr 6:91,363,981...91,411,353
Ensembl chr 6:91,363,981...91,411,363
JBrowse link
Hallux Valgus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr17:74,337,923...74,391,115
Ensembl chr17:74,338,987...74,391,115
JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr 2:122,053,526...122,119,434
Ensembl chr 2:122,053,520...122,118,386
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:130,112,416...130,154,233
Ensembl chr 2:130,112,416...130,154,232
JBrowse link
Hammer Toe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chr15:102,338,247...102,350,759
Ensembl chr15:102,338,252...102,350,771
JBrowse link
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr 5:121,711,609...121,814,950
Ensembl chr 5:121,711,337...121,816,493
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:16096811, PMID:21291455, PMID:22243284, PMID:25388846, PMID:25741868, PMID:26467025, PMID:28448691, PMID:28492532, PMID:30311386 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Ighmbp2 immunoglobulin mu binding protein 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:14506069, PMID:25741868, PMID:28492532 NCBI chr19:3,259,076...3,283,010
Ensembl chr19:3,259,076...3,283,017
JBrowse link
G Mme membrane metallo endopeptidase ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:15464186, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chr 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO
IEA
hand-foot-genital syndrome, OMIM:140000
ClinVar Annotator: match by term: Hand foot uterus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:140000
ClinVar
MouseDO
CTD
OMIM
PMID:1442892, PMID:2774004, PMID:5450271, PMID:8673126, PMID:9020844, PMID:10839976, PMID:12073020, PMID:12414828, PMID:17935235, PMID:24239177, PMID:9020844 RGD:1599526 NCBI chr 6:52,258,853...52,260,880
Ensembl chr 6:52,257,694...52,260,880
JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar
PMID:7795583, PMID:7874169, PMID:10861678, PMID:10942429, PMID:14564217, PMID:14613973, PMID:16957473, PMID:24127277, PMID:24497711, PMID:25251565, PMID:28492532 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)
ClinVar Annotator: match by OMIM:123150
OMIM
ClinVar
PMID:7558045, PMID:7581378, PMID:7655462, PMID:7719329, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8957519, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9677057, PMID:9719378, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:17525745, PMID:18552176, PMID:19066959, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:27481450, PMID:28492532, PMID:31145570, PMID:7874170 RGD:12801470 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by OMIM:135750 OMIM
ClinVar
PMID:16059937, PMID:24456159 NCBI chr 5:29,229,802...29,378,421
Ensembl chr 5:29,229,802...29,378,390
JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome ClinVar PMID:16059937, PMID:24456159 NCBI chr 5:29,314,497...29,315,862 JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr14:58,070,671...58,112,854
Ensembl chr14:58,070,547...58,112,720
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar PMID:16532400 RGD:12738199 NCBI chr 2:155,941,023...155,945,367
Ensembl chr 2:155,941,023...155,945,367
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by OMIM:186500
ClinVar
OMIM
PMID:3667255, PMID:6638061, PMID:10080184, PMID:11846737, PMID:15770128, PMID:16532400, PMID:17609215, PMID:20503332, PMID:25741868, PMID:10080184, PMID:16151340 RGD:1600234, RGD:12801467 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:160,784,308...160,994,681
Ensembl chr  X:160,771,923...160,994,704
JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:160,765,819...160,799,663
Ensembl chr  X:160,768,013...160,799,663
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar Annotator: match by OMIM:601358
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213, PMID:19606471, PMID:22366787, PMID:22426308, PMID:22822383, PMID:23752187, PMID:25169058, PMID:25326635, PMID:25326637, PMID:25741868, PMID:27099726, PMID:27665729, PMID:28492532, PMID:28824374, PMID:30311386, PMID:30459321 NCBI chr19:26,605,073...26,778,321
Ensembl chr19:26,605,050...26,778,322
JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO
IEA
IMP
IAGP
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:164200 | OMIM:257850
DNA:mutation:cd:p.G138R(mouse)
ClinVar Annotator: match by OMIM:164200
DNA:missense mutation:cds:p.P59H (human)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
OMIM
ClinVar
CTD
MouseDO
PMID:220941, PMID:1057461, PMID:2309863, PMID:4209752, PMID:7815444, PMID:10331943, PMID:11470490, PMID:12457340, PMID:15108203, PMID:15192806, PMID:15551259, PMID:15637728, PMID:15879313, PMID:16155213, PMID:16211004, PMID:16378922, PMID:16709485, PMID:17256797, PMID:17420259, PMID:17509830, PMID:17687502, PMID:18003637, PMID:18077386, PMID:18079109, PMID:18660473, PMID:18946008, PMID:19057520, PMID:19638688, PMID:19725242, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23550541, PMID:25741868, PMID:28492532, PMID:18003637, PMID:16219735, PMID:15637728, PMID:12457340, PMID:16155213 RGD:12910132, RGD:1578474, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863, PMID:11470490, PMID:12457340, PMID:14974090, PMID:14981729, PMID:15192806, PMID:15879313, PMID:16531323, PMID:16816024, PMID:17901047, PMID:18003637, PMID:18946008, PMID:19057520, PMID:19338053, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23606748, PMID:25388818, PMID:25398053, PMID:25741868, PMID:27226478, PMID:28492532 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18178630, PMID:18417549 NCBI chr 5:29,229,802...29,378,421
Ensembl chr 5:29,229,802...29,378,390
JBrowse link
G Shh sonic hedgehog ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18417549 NCBI chr 5:29,314,497...29,315,862 JBrowse link
Preaxial Polydactyly II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by OMIM:174500
OMIM
ClinVar
PMID:8012392, PMID:10937618, PMID:12837695, PMID:17152067, PMID:17300748, PMID:18178630, PMID:18417549, PMID:18463159, PMID:19519794, PMID:20569257, PMID:24777739, PMID:28492532 NCBI chr 5:29,229,802...29,378,421
Ensembl chr 5:29,229,802...29,378,390
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:20569257, PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar PMID:8012392, PMID:10937618, PMID:12837695, PMID:17152067, PMID:17300748, PMID:18417549, PMID:18463159, PMID:19519794, PMID:20569257, PMID:24777739 NCBI chr 5:29,314,497...29,315,862 JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by OMIM:268305 OMIM
ClinVar
PMID:24360810 NCBI chr11:119,288,363...119,300,043
Ensembl chr11:119,288,363...119,300,089
JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by OMIM:220600 OMIM
ClinVar
PMID:22121204 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085
JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chr10:42,502,054...42,535,369
Ensembl chr10:42,502,030...42,535,381
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO OMIM NCBI chr15:85,205,949...85,286,294
Ensembl chr15:85,205,949...85,286,535
JBrowse link
Talipes Cavus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chr15:102,338,247...102,350,759
Ensembl chr15:102,338,252...102,350,771
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr13:45,549,755...45,964,991
Ensembl chr13:45,549,755...45,965,008
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:22539353, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 3:18,071,944...18,243,890
Ensembl chr 3:18,071,950...18,243,338
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 2:5,896,219...5,942,829
Ensembl chr 2:5,896,115...5,942,792
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G Hspb1 heat shock protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:18832141, PMID:22176143, PMID:25741868, PMID:25965061, PMID:27816334, PMID:28144995, PMID:28492532, PMID:28595321, PMID:29381233, PMID:30311386 NCBI chr 5:135,887,919...135,889,563
Ensembl chr 5:135,887,919...135,889,563
JBrowse link
G Idua iduronidase, alpha-L ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 5:108,660,331...108,685,446
Ensembl chr 5:108,660,331...108,684,557
JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr12:112,588,744...112,615,557
Ensembl chr12:112,588,784...112,615,557
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Mme membrane metallo endopeptidase ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:15464186, PMID:24033266, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chr 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964, PMID:8644725, PMID:8797476, PMID:10581375, PMID:10737979, PMID:11437164, PMID:12221176, PMID:12477701, PMID:15050444, PMID:20215982, PMID:20461396, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:12481988, PMID:15111691, PMID:16452125, PMID:19286384, PMID:21168446, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 2:66,480,080...66,635,114
Ensembl chr 2:66,480,080...66,634,962
JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), member 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 5:108,669,878...108,678,380
Ensembl chr 5:108,669,878...108,675,569
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr12:87,305,058...87,388,355
Ensembl chr12:87,305,058...87,388,355
JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 3:90,072,651...90,100,902
Ensembl chr 3:90,072,649...90,100,902
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7719340, PMID:8602747, PMID:9463307, PMID:9588854, PMID:11013295, PMID:12112220, PMID:12470185, PMID:15300460, PMID:23445347, PMID:24033266, PMID:25614784, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 4:20,007,894...20,030,822
Ensembl chr 4:20,007,938...20,030,785
JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome
ClinVar Annotator: match by OMIM:311900
OMIM
ClinVar
PMID:5410571, PMID:20451169, PMID:21910224, PMID:24259342, PMID:25741868 NCBI chr  X:20,617,357...20,650,889
Ensembl chr  X:20,617,503...20,650,901
JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Tarsal carpal coalition syndrome
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by OMIM:186570
OMIM
ClinVar
PMID:4019538, PMID:7557985, PMID:10080184, PMID:11545688, PMID:17245852, PMID:25741868, PMID:26211601 RGD:12801450 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Terminal osseous dysplasia
ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
OMIM
ClinVar
PMID:9800904, PMID:10982965, PMID:15864382, PMID:17152064, PMID:20598277, PMID:25614868, PMID:25741868, PMID:26059211, PMID:28492532, PMID:30561107 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
ClinVar Annotator: match by OMIM:190351
OMIM
ClinVar
PMID:11112658, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:19694891, PMID:21850686, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26113321, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr15:50,654,757...50,890,631
Ensembl chr15:50,654,752...50,890,463
JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 7:105,752,989...105,788,355
Ensembl chr 7:105,752,990...105,787,654
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome
CTD
ClinVar
PMID:24033266, PMID:24056717 NCBI chr 3:38,884,667...39,011,992
Ensembl chr 3:38,886,940...39,011,985
JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar
PMID:22473091, PMID:24056717, PMID:25741868, PMID:28492532 NCBI chr 7:105,752,989...105,788,355
Ensembl chr 7:105,752,990...105,787,654
JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 2
ClinVar Annotator: match by OMIM:615546
OMIM
ClinVar
PMID:2624276, PMID:22469822, PMID:22473091, PMID:24033266, PMID:24056717, PMID:24913602, PMID:25741868 NCBI chr 3:38,884,667...39,011,992
Ensembl chr 3:38,886,940...39,011,985
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      musculoskeletal system disease 5436
        Foot Deformities 138
          Congenital Foot Deformities + 127
          Foot Deformities, Acquired + 101
          Hallux Valgus + 6
          Hallux Varus + 0
          Hammer Toe Syndrome 6
          Kantaputra Gorlin Syndrome 0
          Krauss Herman Holmes Syndrome 0
          Metatarsal Valgus 0
          Metatarsus Varus 0
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.