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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Lower Extremity Deformities, Congenital
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Accession:DOID:9007794 term browser browse the term
Definition:Congenital structural abnormalities of the LOWER EXTREMITY.
Synonyms:exact_synonym: Lower Limb Deformities, Congenital
 xref: MESH:D038061


show annotations for term's descendants           Sort by:
Lower Extremity Deformities, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9409668 NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:80,001,689...80,005,156 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO
ISS 		ClinVar Annotator: match by term: Acheiropodia
OMIM:200500
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE 		OMIM
CTD
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:18399101 More... NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		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 hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb1 high mobility group box 1 ISO ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr12:11,009,236...11,015,941
Ensembl chr16:39,039,050...39,041,327
Ensembl chr12:39,039,050...39,041,327 		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 subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
CTD Direct Evidence: marker/mechanism
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 		OMIM
CTD
ClinVar
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
clubfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr19:55,906,694...55,930,499
Ensembl chr19:55,906,702...55,930,497 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 7:35,622,267...35,731,904
Ensembl chr 7:35,622,461...35,731,904 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 2:121,636,181...121,852,802
Ensembl chr 2:121,636,323...121,852,802 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		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 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Clubfeet ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:75,842,078...75,870,319
Ensembl chr13:75,836,565...75,869,904 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISS OMIM:119800 MouseDO NCBI chr16:18,929,581...18,936,621
Ensembl chr16:18,929,582...18,936,543 		JBrowse link
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 chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISS OMIM:119800 MouseDO NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Gli3 GLI family zinc finger 3 IEP RGD PMID:19925654 RGD:12738235 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:119800 MouseDO NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
G Hoxd12 homeo box D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 3:79,985,106...79,986,227
Ensembl chr 3:79,985,106...79,986,227 		JBrowse link
G Hoxd13 homeo box D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfeet ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 3:37,257,025...37,338,675
Ensembl chr 3:37,259,855...37,338,557 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Clubfeet ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO
ISS 		ClinVar Annotator: match by term: Clubfeet | ClinVar Annotator: match by term: Clubfoot | ClinVar Annotator: match by term: PITX1-related condition
OMIM:119800
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:17582161 PMID:25741868 PMID:26139440 PMID:26467025 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		JBrowse link
G Ret ret proto-oncogene ISS OMIM:119800 MouseDO NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Clubfeet ClinVar PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISS OMIM:119800 MouseDO NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:210,556,270...210,568,033 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:2128891 PMID:20037587 PMID:20037588 PMID:21288981 PMID:21454511 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 8:83,127,650...83,553,822
Ensembl chr 8:83,128,523...83,553,822 		JBrowse link
G Wapl WAPL cohesin release factor ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr16:10,011,741...10,081,472
Ensembl chr16:10,012,110...10,081,472 		JBrowse link
Complex Camptosynpolydactyly 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptosynpolydactyly, complex 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908 		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:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		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 chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box D10 ISO ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: HOXD10-related disorder OMIM
ClinVar		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:80,001,689...80,005,156 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:17339586 PMID:23401156 PMID:23678273 PMID:24692096 PMID:25741868 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr10:86,610,140...86,625,896
Ensembl chr10:86,611,890...86,631,730 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:25741868 PMID:28492532 NCBI chr 7:24,817,770...24,903,681
Ensembl chr 7:24,817,561...24,903,544 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr 1:191,257,432...191,263,046
Ensembl chr 1:191,256,196...191,263,045 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:20813920 PMID:24155313 PMID:24726473 More... NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		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 susceptibility ISO
ISS 		DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
OMIM:604292
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		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: DSE-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23704329 PMID:25703627 PMID:25741868 More... NCBI chr20:26,661,326...26,740,011
Ensembl chr20:26,661,326...26,740,114 		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 DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BONE MODELING DEFECT OF HANDS AND FEET | ClinVar Annotator: match by term: Eiken syndrome 		CTD
ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
Flatfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:127,893,207...127,910,818 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:80,001,689...80,005,156 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240 		JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO
ISS 		ClinVar Annotator: match by term: Fuhrmann syndrome | ClinVar Annotator: match by term: WNT7A-related condition
OMIM:228930
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9128926 PMID:12809666 PMID:16826533 PMID:19282404 PMID:21344627 More... NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO
ISS 		hand-foot-genital syndrome, OMIM:140000
ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701 		JBrowse link
Holt-Oram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
RGD		 PMID:30067223 PMID:12843316 RGD:11556209 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO
ISS 		ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition
OMIM:142900
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G125R (human)
DNA:missense mutations, deletion:cds:multiple 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More... RGD:1578428, RGD:7327219, RGD:7327217 NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		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: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R344G (human) 		OMIM
ClinVar
CTD
RGD		 PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:136,565,591...136,676,057 		JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16059937 PMID:24456159 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		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 PMID:25741868 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 		ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human) 		ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		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 interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8287185 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 More... NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		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
ISS 		DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
OMIM:164200 | OMIM:257850
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum 		CTD
OMIM
ClinVar		 PMID:1270474 PMID:9234973 PMID:9563489 PMID:9731534 PMID:10327054 More... NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:17300748 PMID:18417549 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		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
ISS 		ClinVar Annotator: match by term: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES | ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 More... NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
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 chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
preaxial polydactyly II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb ClinVar
OMIM		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20569257 PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome 		OMIM
CTD
ClinVar		 PMID:24360810 NCBI chr10:105,047,567...105,057,561
Ensembl chr10:105,047,568...105,058,207 		JBrowse link
Santos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Santos syndrome OMIM
ClinVar		 PMID:19012338 PMID:28855715 NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		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 term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		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 ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965 		JBrowse link
Talipes Cavus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:16565160 PMID:25741868 PMID:26392352 PMID:26633542 PMID:28492532 More... NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:85,493,753...85,542,876 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:6,715,935...6,735,313 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:12325071 PMID:15241803 PMID:25741868 PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:70,541,862...70,549,843 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964 PMID:8644725 PMID:10545037 PMID:10581375 PMID:11437164 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 More... NCBI chr18:57,686,701...57,747,735
Ensembl chr18:57,686,735...57,800,541 		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: RBM10-related condition | ClinVar Annotator: match by term: TARP syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:4,093,914...4,126,060 		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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 More... RGD:12801450 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
Teebi hypertelorism syndrome 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 ClinVar Annotator: match by term: Teebi hypertelorism syndrome ClinVar PMID:28492532 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:27,681,867...27,906,105 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO
ISS 		OMIM:145420
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
CTD		 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: CDH11-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33811546 NCBI chr19:2,152,961...2,312,140
Ensembl chr19:2,154,840...2,312,140 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9071288 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		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 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639 		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 PMID:24913602 PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		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 PMID:28518168 More... NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:169,516,762...169,536,639 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		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: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:9536098 PMID:17576681 PMID:22469822 PMID:22473091 More... NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        Musculoskeletal Abnormalities 1594
          Congenital Limb Deformities 790
            Lower Extremity Deformities, Congenital 90
              Congenital Foot Deformities + 82
              Corneodermatoosseous Syndrome 0
              Ectrodactyly Cardiopathy Dysmorphism 0
              Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
              Familial Streblodactyly 0
              Holt-Oram syndrome + 3
              Keipert syndrome 1
              Merlob Grunebaum Reisner Syndrome 0
              Osteofibrous Dysplasia 1
              popliteal pterygium syndrome + 3
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        Congenital Abnormalities 3298
          Musculoskeletal Abnormalities 1594
            Congenital Limb Deformities 790
              Lower Extremity Deformities, Congenital 90
                Congenital Foot Deformities + 82
                Corneodermatoosseous Syndrome 0
                Ectrodactyly Cardiopathy Dysmorphism 0
                Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
                Familial Streblodactyly 0
                Holt-Oram syndrome + 3
                Keipert syndrome 1
                Merlob Grunebaum Reisner Syndrome 0
                Osteofibrous Dysplasia 1
                popliteal pterygium syndrome + 3
paths to the root