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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:Talipes
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Accession:DOID:9007152 term browser browse the term
Definition:Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY.
Synonyms:exact_synonym: Talipedes;   Talipes Calcaneovarus;   Talipes Calcaneus;   Talipes Varus
 xref: MESH:D000070558

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clubfoot term browser
Symbol Object Name 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 chr 5:53,399,717...53,433,472
Ensembl chr 5:53,395,638...53,433,461 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr11:84,985,957...85,053,923
Ensembl chr11:84,989,169...85,103,957 		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 7:69,424,270...69,635,420
Ensembl chr 7:69,457,835...69,635,644 		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 chr27:34,625,701...34,761,873
Ensembl chr27:34,625,105...34,761,745 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr26:42,538,380...42,540,588
Ensembl chr26:42,539,203...42,540,333 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		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 chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO OMIM:119800 MouseDO NCBI chr 6:17,007,764...17,018,409
Ensembl chr 6:17,007,390...17,017,714 		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 chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO OMIM:119800 MouseDO NCBI chr 7:26,545,048...26,992,346
Ensembl chr 7:26,700,869...26,954,352 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:119800 MouseDO NCBI chr11:62,018,037...62,464,440
Ensembl chr11:62,015,463...62,335,876 		JBrowse link
G HOXD12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr10:61,674,853...61,679,412
Ensembl chr10:61,674,864...61,675,819 		JBrowse link
G HOXD13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr10:61,662,670...61,670,955
Ensembl chr10:61,667,880...61,669,743 		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 chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr12:11,443,253...11,526,789
Ensembl chr12:11,444,324...11,526,552 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Clubfeet ClinVar PMID:25741868 NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Clubfeet | ClinVar Annotator: match by term: Clubfoot | ClinVar Annotator: match by term: PITX1-related condition OMIM
ClinVar		 PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr23:37,807,486...37,820,540
Ensembl chr23:37,807,378...37,813,948 		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 chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		JBrowse link
G RET ret proto-oncogene ISO OMIM:119800 MouseDO NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		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 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO OMIM:119800 MouseDO NCBI chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719 		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 chr11:105,020,972...105,072,660 JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:25741868 NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr26:28,806,358...29,457,039 JBrowse link
G WAPL WAPL cohesin release factor ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 9:45,335,423...45,420,785
Ensembl chr 9:45,334,981...45,420,787 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name 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 chr18:70,161,961...70,623,912
Ensembl chr18:70,246,132...70,622,611 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name 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 chr13:57,377,001...57,447,589
Ensembl chr13:57,376,922...57,446,395 		JBrowse link
Flatfoot term browser
Symbol Object Name 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 chr20:79,710,638...79,728,100
Ensembl chr20:79,706,584...79,727,689 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr10:61,686,868...61,694,965
Ensembl chr10:61,691,797...61,694,415 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr11:4,853,706...4,894,406
Ensembl chr11:4,854,570...4,856,162 		JBrowse link
Richieri Costa-Pereira Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr16:72,097,692...72,113,112 JBrowse link
Santos Syndrome term browser
Symbol Object Name 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 chr22:49,805,415...49,863,115
Ensembl chr22:49,805,463...49,862,830 		JBrowse link
Talipes Cavus term browser
Symbol Object Name 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 chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 8:69,948,800...69,965,168
Ensembl chr 8:69,949,052...69,966,421 		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:61,013,991...61,019,222
Ensembl chr  X:61,017,716...61,018,567 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		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 chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393 		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 chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		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 chr23:51,615,754...51,677,650 JBrowse link
TARP syndrome term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:44,339,653...44,373,509
Ensembl chr  X:44,339,877...44,373,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10941
    physical disorder 2371
      Congenital Foot Deformities 82
        Talipes 46
          Equinus Deformity 0
          Flatfoot 6
          Talipes Cavus 8
          clubfoot + 33
Path 2
Term Annotations click to browse term
  disease 10941
    Developmental Disease 7270
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6753
        Congenital Abnormalities 3172
          Musculoskeletal Abnormalities 1585
            Congenital Limb Deformities 780
              Lower Extremity Deformities, Congenital 90
                Congenital Foot Deformities 82
                  Talipes 46
                    Equinus Deformity 0
                    Flatfoot 6
                    Talipes Cavus 8
                    clubfoot + 33
paths to the root