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: Lower Extremity Deformities, Congenital
Accession: DOID:9007794
browse the term
Definition: Congenital structural abnormalities of the LOWER EXTREMITY.
Synonyms: exact_synonym: Lower Limb Deformities, Congenital
primary_id: MESH:D038061 ; RDO:0000381
For additional species annotation, visit the
Alliance of Genome Resources .
G
Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9409668
NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
G
Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
G
Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by OMIM:200500
OMIM ClinVar
PMID:11090342
NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
G
Hoxd13
homeo box 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 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
G
Pthlh
parathyroid hormone-like hormone
ISO
ClinVar Annotator: match by OMIM:613382
OMIM ClinVar
PMID:20170896
NCBI chr 4:181,663,425...181,674,181
G
Bhlha9
basic helix-loop-helix family, member a9
ISO
OMIM
NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
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:8733056 PMID:15260953 PMID:19652145 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28708303 PMID:28849312 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30657467 PMID:32581362 , PMID:24468074
RGD:11576280
NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
G
Aars1
alanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Equinovarus
ClinVar
PMID:25741868
NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
G
Chst14
carbohydrate sulfotransferase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20004762
NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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
NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
G
Fkbp8
FKBP prolyl isomerase 8
ISS
OMIM:119800
MouseDO
NCBI chr16:20,645,956...20,652,890
Ensembl chr16:20,645,957...20,652,889
G
Flnb
filamin B
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 chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
G
Fras1
Fraser extracellular matrix complex subunit 1
ISS
OMIM:119800
MouseDO
NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
G
Gli3
GLI family zinc finger 3
IEP
RGD
PMID:19925654
RGD:12738235
NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
G
Grip1
glutamate receptor interacting protein 1
ISS
OMIM:119800
MouseDO
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
G
Hoxd12
homeo box D12
ISO
DNA:SNP:5' utr:rs847154 (human)
RGD
PMID:16331564
RGD:12743594
NCBI chr 3:61,597,382...61,598,503
Ensembl chr 3:61,597,382...61,598,503
G
Hoxd13
homeo box D13
ISO
DNA:SNP:exon:rs13392701 (human)
RGD
PMID:16331564
RGD:12743594
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
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 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
G
Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19147669
NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16936070
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Pitx1
paired-like homeodomain 1
ISO
ClinVar Annotator: match by term: Clubfoot ClinVar Annotator: match by OMIM:119800
OMIM ClinVar
PMID:18950742 PMID:22258522 PMID:25741868
NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Equinovarus
ClinVar
PMID:25741868
NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
G
Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
ClinVar Annotator: match by term: Equinovarus
ClinVar
PMID:25741868
NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
G
Ret
ret proto-oncogene
ISS
OMIM:119800
MouseDO
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
G
RGD1307100
similar to RIKEN cDNA D630029K19
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868 PMID:29290337 PMID:31680349
NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
G
Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 PMID:25741868
NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
G
Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISS
OMIM:119800
MouseDO
NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
G
Tnfrsf13b
TNF 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 chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Bilateral talipes equinovarus
ClinVar
PMID:23861362 PMID:25741868
NCBI chr 3:63,565,160...63,837,815
G
Unc13c
unc-13 homolog C
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr 8:80,202,736...80,656,363
Ensembl chr 8:80,203,609...80,631,926
G
Vangl1
VANGL planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Talipes equinovarus
ClinVar
PMID:25741868
NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
G
Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11940089
NCBI chr X:20,100,942...20,143,871
Ensembl chr X:20,216,587...20,225,955 Ensembl chr X:20,216,587...20,225,955
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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
G
Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15996213
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
G
Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20170896
NCBI chr 4:181,663,425...181,674,181
G
Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11462173
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
G
Hoxd10
homeo box D10
ISO
ClinVar Annotator: match by term: Vertical talus, congenital ClinVar Annotator: match by OMIM:192950
OMIM ClinVar
PMID:15146389 PMID:16450407 PMID:25741868
NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
G
Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ClinVar Annotator: match by OMIM:114300
OMIM ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:30285720 PMID:31680123
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
G
Tp63
tumor protein p63
susceptibility
ISO
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) ClinVar Annotator: match by OMIM:604292 ClinVar Annotator: match by null
ClinVar CTD OMIM
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 , PMID:10535733 , PMID:26470833 , PMID:12161593 , PMID:11903230
RGD:1600403 , RGD:11532814 , RGD:11568642 , RGD:11568640
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
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 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
G
Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15146389 PMID:16450407 PMID:24239177
NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
G
Wnt7a
Wnt family member 7A
ISO
ClinVar Annotator: match by OMIM:228930
OMIM ClinVar
PMID:9128926 PMID:16826533
NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
G
Hoxa13
homeo box A13
ISO
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 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
Ensembl chr 4:82,228,017...82,229,397
G
Lyplal1
lysophospholipase-like 1
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome
ClinVar
PMID:22772368 PMID:23102774 PMID:26854089 PMID:28492532
NCBI chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631
G
Sall4
spalt-like transcription factor 4
ISO
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:30067223 , PMID:12843316
RGD:11556209
NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
G
Tbx5
T-box transcription factor 5
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar Annotator: match by OMIM:142900 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null DNA:missense mutation:cds:p.G125R (human) DNA:missense mutations, deletion:cds:multiple
OMIM ClinVar CTD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 PMID:10077762 PMID:10842287 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12624158 PMID:12789647 PMID:12818525 PMID:14402857 PMID:15710732 PMID:15735645 PMID:16183809 PMID:16380715 PMID:16917909 PMID:17534187 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:22333898 PMID:24033266 PMID:24664498 PMID:25260786 PMID:25263169 PMID:25326637 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26762269 PMID:26859351 PMID:26938784 PMID:28492532 PMID:29755943 , PMID:11572777 , PMID:18451335 , PMID:20519243
RGD:1578428 , RGD:7327219 , RGD:7327217
NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
G
Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome
ClinVar
PMID:1631557 PMID:3476488 PMID:8819159 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24033266 PMID:24440784 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28468283 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:31191903 PMID:31915033
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
G
Gpc4
glypican 4
ISO
ClinVar Annotator: match by term: Nasodigitoacoustic syndrome
ClinVar OMIM
PMID:4708024 PMID:25741868 PMID:30982611
NCBI chr X:139,354,325...139,464,876
Ensembl chr X:139,354,155...139,464,798
G
Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by OMIM:135750
OMIM ClinVar
PMID:16059937 PMID:24456159
NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
G
Fgf9
fibroblast growth factor 9
ISO
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
ClinVar
NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
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 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
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 chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
G
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar
PMID:25741868
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
G
Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar
PMID:25741868
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
G
Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar
PMID:25741868
NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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:30459321
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
G
Gja1
gap junction protein, alpha 1
ISO
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:cd:p.G138R(mouse) ClinVar Annotator: match by OMIM:164200 DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse)
ClinVar CTD OMIM
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:16219735 , PMID:18003637 , PMID:15637728 , PMID:12457340 , PMID:16155213
RGD:1578474 , RGD:12910132 , RGD:8662400 , RGD:8662375 , RGD:8662372
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
G
Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar
PMID:17300748 PMID:18178630 PMID:18417549
NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
G
Shh
sonic hedgehog signaling molecule
ISO
DNA:duplication:enhancer
RGD
PMID:18417549
RGD:12801418
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
G
Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar Annotator: match by OMIM:119500
OMIM ClinVar
PMID:12219090 PMID:14757865 PMID:18478600 PMID:18617879 PMID:19036739 PMID:20803643 PMID:22488974 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:28492532 PMID:29453417
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
G
Ripk4
receptor-interacting serine-threonine kinase 4
ISO ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650
ClinVar MouseDO
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
G
Ripk4
receptor-interacting serine-threonine kinase 4
ISO
ClinVar Annotator: match by term: Bartsocas-Papas syndrome ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type ClinVar Annotator: match by OMIM:263650
OMIM ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
G
Lmbr1
limb development membrane protein 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:18463159 PMID:19519794 PMID:20569257 PMID:24777739 PMID:28492532
NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
G
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar
PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
G
Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:20569257 , PMID:18463159
RGD:12801447 , RGD:12801448
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
G
Eif4a3
eukaryotic translation initiation factor 4A3
ISO
ClinVar Annotator: match by OMIM:268305
OMIM ClinVar
PMID:24360810
NCBI chr10:108,415,201...108,425,195
Ensembl chr10:108,415,202...108,425,206
G
Dlx5
distal-less homeobox 5
ISO
ClinVar Annotator: match by OMIM:220600
OMIM ClinVar
PMID:22121204
NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007
G
Snx3
sorting nexin 3
ISO
OMIM
NCBI chr20:47,225,382...47,263,390
Ensembl chr20:47,225,619...47,263,390
G
Fbln1
fibulin 1
ISO
OMIM
NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
G
Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
G
Gjb1
gap junction protein, beta 1
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:25741868
NCBI chr X:71,272,030...71,279,973
Ensembl chr X:71,272,042...71,279,977
G
Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
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:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
G
Nefl
neurofilament light
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 PMID:25741868 PMID:28492532
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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:1,754,869...1,786,973
Ensembl chr X:1,754,861...1,786,978
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 chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
G
Flna
filamin A
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:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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 chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
G
Dchs1
dachsous cadherin-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056717
NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
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 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
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 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
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 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
disease of anatomical entity
15370
musculoskeletal system disease
5283
Musculoskeletal Abnormalities
1683
Congenital Limb Deformities
450
Lower Extremity Deformities, Congenital
75
Congenital Foot Deformities +
67
Corneodermatoosseous Syndrome
0
Ectrodactyly Cardiopathy Dysmorphism
0
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
0
Familial Streblodactyly
0
Holt-Oram syndrome
4
Keipert syndrome
1
Merlob Grunebaum Reisner Syndrome
0
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
0
popliteal pterygium syndrome +
2
Path 2
disease
16123
Developmental Diseases
9597
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8441
Congenital Abnormalities
4761
Musculoskeletal Abnormalities
1683
Congenital Limb Deformities
450
Lower Extremity Deformities, Congenital
75
Congenital Foot Deformities +
67
Corneodermatoosseous Syndrome
0
Ectrodactyly Cardiopathy Dysmorphism
0
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
0
Familial Streblodactyly
0
Holt-Oram syndrome
4
Keipert syndrome
1
Merlob Grunebaum Reisner Syndrome
0
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
0
popliteal pterygium syndrome +
2