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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:clubfoot
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Accession:DOID:11836 term browser browse the term
Definition:A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. (DO)
Synonyms:exact_synonym: CCF;   Congenital Clubfeet;   Congenital Clubfoot;   Congenital Talipes Equinovarus;   Congenital equinovarus;   Equinovarus;   Equinovarus deformity of foot;   Idiopathic congenital talipes equinovarus;   PITX1-RELATED CONDITION;   clubfeet;   congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly;   pie torcido;   pie torcidos;   talipes equinovarus
 narrow_synonym: BILATERAL TALIPES EQUINOVARUS
 primary_id: MESH:D003025
 alt_id: OMIM:119800
 xref: ICD10CM:Q66.0;   ICD10CM:Q66.89;   ICD9CM:754.51;   NCI:C188148;   NCI:C84641
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr15:30,547,009...30,674,094
Ensembl chr15:30,547,015...30,616,429 		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 chr19:17,841,450...18,047,002
Ensembl chr19:17,841,967...18,044,276 		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 chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr30:7,640,988...7,643,576
Ensembl chr30:7,640,637...7,642,778 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728 		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 chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO OMIM:119800 MouseDO NCBI chr20:44,494,856...44,504,084
Ensembl chr20:44,489,219...44,598,497 		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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO OMIM:119800 MouseDO NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:119800 MouseDO NCBI chr10:8,801,023...9,187,684
Ensembl chr10:8,802,529...9,063,848 		JBrowse link
G HOXD12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr36:19,907,424...19,910,827
Ensembl chr36:19,907,442...19,908,408 		JBrowse link
G HOXD13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr36:19,901,184...19,903,837 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY ClinVar PMID:25741868 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | 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 chr11:23,069,731...23,075,085
Ensembl chr11:23,069,716...23,080,941 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503 		JBrowse link
G RET ret proto-oncogene ISO OMIM:119800 MouseDO NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO OMIM:119800 MouseDO NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740 		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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362 PMID:25741868 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr30:19,519,177...20,096,633
Ensembl chr30:19,518,232...20,095,094 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765 		JBrowse link
G WAPL WAPL cohesin release factor ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 4:34,219,644...34,297,456
Ensembl chr 4:34,219,645...34,302,839 		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: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		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: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 1:56,787,809...56,868,037
Ensembl chr 1:56,787,256...56,867,716 		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: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr 9:1,582,950...1,593,893
Ensembl chr 9:1,582,993...1,593,892 		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: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:40,746,959...40,776,764
Ensembl chr  X:40,747,178...40,776,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      bone development disease 2275
        clubfoot 34
          Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
          Chromosome 17q23.1-q23.2 Duplication Syndrome 0
          Crane-Heise Syndrome 0
          Ehlers-Danlos syndrome musculocontractural type 2 1
          Lambert Syndrome 0
          Richieri Costa Pereira Syndrome 1
          Santos Syndrome 0
          TARP syndrome 1
          Ulnar Hypoplasia with Mental Retardation 0
          distal arthrogryposis type 3 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7452
          Musculoskeletal Abnormalities 3260
            Congenital Limb Deformities 1017
              Lower Extremity Deformities, Congenital 183
                Congenital Foot Deformities 175
                  Talipes 47
                    clubfoot 34
                      Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                      Chromosome 17q23.1-q23.2 Duplication Syndrome 0
                      Crane-Heise Syndrome 0
                      Ehlers-Danlos syndrome musculocontractural type 2 1
                      Lambert Syndrome 0
                      Richieri Costa Pereira Syndrome 1
                      Santos Syndrome 0
                      TARP syndrome 1
                      Ulnar Hypoplasia with Mental Retardation 0
                      distal arthrogryposis type 3 1
paths to the root