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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Foot Deformities
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Accession:DOID:9000067 term browser browse the term
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
Synonyms:exact_synonym: Congenital Foot Deformity
 primary_id: MESH:D005532
 alt_id: RDO:0000317
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Foot Deformities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11098154
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
brachydactyly type E1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872
Camptosynpolydactyly, Complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:7240710
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11576280
RGD:8554872
RGD:7240710
clubfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576307
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link 16 20,645,956 20,652,890 RGD:13592920
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791025
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738235
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Hoxd12 homeo box D12 JBrowse link 3 61,597,382 61,598,503 RGD:12743594
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743594
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 3 12,608,748 12,686,937 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710
RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:13592920
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:13592920
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:8554872
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:1600403
RGD:8554872
RGD:11532814
RGD:11568642
RGD:11568640
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
Eiken Skeletal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
RGD:7240710
RGD:12910707
Flatfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:11554173
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
Fuhrmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:7240710
RGD:8554872
Gordon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
hand-foot-genital syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:1599526
RGD:11554173
RGD:8554872
RGD:7240710
Jackson-Weiss Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801470
Laurin-Sandrow Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx3 sorting nexin 3 JBrowse link 20 47,225,382 47,263,390 RGD:7240710
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
RGD:12738199
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:1600234
RGD:8554872
RGD:12801467
RGD:7240710
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:7240710
RGD:8554872
RGD:11554173
oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:8554872
RGD:12910132
RGD:8662400
RGD:8662375
RGD:8662372
RGD:7240710
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Richieri Costa Pereira Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif4a3 eukaryotic translation initiation factor 4A3 JBrowse link 10 108,415,201 108,425,195 RGD:7240710
RGD:8554872
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:7240710
RGD:8554872
Synpolydactyly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:7240710
Synpolydactyly with Foot Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
Talipes Cavus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
TARP Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm10 RNA binding motif protein 10 JBrowse link X 1,754,869 1,786,973 RGD:7240710
RGD:8554872
tarsal-carpal coalition syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:8554872
RGD:12801450
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
Van Maldergem syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:8554872
RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Van Maldergem syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:7240710
RGD:8554872
Van Maldergem syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:7240710
RGD:8554872
Vertical Talus, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        Foot Deformities 71
          Congenital Foot Deformities 68
            Acrootoocular Syndrome 0
            Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
            Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 0
            CAPOS Syndrome 1
            Camptosynpolydactyly, Complex 1
            Charcot-Marie-Tooth Disease, Foot Deformity of 0
            Cleft Palate, Deafness, and Oligodontia 0
            Craniosynostosis, Adelaide Type 0
            Daneman Davy Mancer Syndrome 0
            Deafness, Congenital Onychodystrophy, Recessive Form 0
            Digitotalar Dysmorphism 0
            Distal Symphalangism + 3
            Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
            Eiken Skeletal Dysplasia 1
            Fairbank Disease 0
            Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
            Frias Syndrome 0
            Fried Goldberg Mundel Syndrome 0
            Frints De Smet Fabry Fryns Syndrome 0
            Fuhrmann syndrome 1
            Game Friedman Paradice Syndrome 0
            Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
            Hairy Palms and Soles 0
            Jackson-Weiss Syndrome 2
            Johnson Munson Syndrome 0
            Laurin-Sandrow Syndrome 1
            Macrodactyly of the Foot 0
            Mammary-Digital-Nail Syndrome 0
            Metatarsus Varus, Type I 0
            Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 1
            Mononen-Karnes-Senac syndrome 0
            Monophalangy of Great Toe 0
            Nicolaides Baraitser Syndrome 4
            Odontotrichoungual-Digital-Palmar Syndrome 0
            Oslam syndrome 0
            Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
            Pfeiffer Tietze Welte Syndrome 0
            Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
            Radial Defect Robin Sequence 0
            Radio-Ulnar Synostosis Type 1 0
            Radio-Ulnar Synostosis Type 2 0
            Ray Peterson Scott Syndrome 0
            Richieri Costa Guion-Almeida Syndrome 0
            Sandhaus Ben-Ami Syndrome 0
            Second Metatarsal-Metacarpal Syndrome 0
            Split Hand Split Foot Nystagmus 0
            Stoll Alembik Dott Syndrome 0
            Symphalangism with Multiple Anomalies of Hands and Feet 0
            Synpolydactyly 2 1
            Synpolydactyly with Foot Anomalies 1
            Talipes + 41
            Talonavicular Coalition 0
            Tarsal Coalition 0
            Teebi Syndrome 0
            Terminal Osseous Dysplasia and Pigmentary Defects 1
            Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
            Ulnar Hypoplasia Lobster Claw Deformity of Feet 0
            Van Maldergem syndrome + 2
            Vertical Talus, Congenital 1
            Zechi-Ceide Syndrome 0
            acheiropody 1
            brachydactyly type E1 1
            brachydactyly type E2 1
            ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
            hand-foot-genital syndrome 1
            oculodentodigital dysplasia + 1
            split hand-foot malformation 1 with sensorineural hearing loss 1
            tarsal-carpal coalition syndrome 3
            trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Congenital Limb Deformities 409
              Lower Extremity Deformities, Congenital 76
                Congenital Foot Deformities 68
                  Acrootoocular Syndrome 0
                  Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
                  Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 0
                  CAPOS Syndrome 1
                  Camptosynpolydactyly, Complex 1
                  Charcot-Marie-Tooth Disease, Foot Deformity of 0
                  Cleft Palate, Deafness, and Oligodontia 0
                  Craniosynostosis, Adelaide Type 0
                  Daneman Davy Mancer Syndrome 0
                  Deafness, Congenital Onychodystrophy, Recessive Form 0
                  Digitotalar Dysmorphism 0
                  Distal Symphalangism + 3
                  Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
                  Eiken Skeletal Dysplasia 1
                  Fairbank Disease 0
                  Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
                  Frias Syndrome 0
                  Fried Goldberg Mundel Syndrome 0
                  Frints De Smet Fabry Fryns Syndrome 0
                  Fuhrmann syndrome 1
                  Game Friedman Paradice Syndrome 0
                  Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
                  Hairy Palms and Soles 0
                  Jackson-Weiss Syndrome 2
                  Johnson Munson Syndrome 0
                  Laurin-Sandrow Syndrome 1
                  Macrodactyly of the Foot 0
                  Mammary-Digital-Nail Syndrome 0
                  Metatarsus Varus, Type I 0
                  Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 1
                  Mononen-Karnes-Senac syndrome 0
                  Monophalangy of Great Toe 0
                  Nicolaides Baraitser Syndrome 4
                  Odontotrichoungual-Digital-Palmar Syndrome 0
                  Oslam syndrome 0
                  Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
                  Pfeiffer Tietze Welte Syndrome 0
                  Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
                  Radial Defect Robin Sequence 0
                  Radio-Ulnar Synostosis Type 1 0
                  Radio-Ulnar Synostosis Type 2 0
                  Ray Peterson Scott Syndrome 0
                  Richieri Costa Guion-Almeida Syndrome 0
                  Sandhaus Ben-Ami Syndrome 0
                  Second Metatarsal-Metacarpal Syndrome 0
                  Split Hand Split Foot Nystagmus 0
                  Stoll Alembik Dott Syndrome 0
                  Symphalangism with Multiple Anomalies of Hands and Feet 0
                  Synpolydactyly 2 1
                  Synpolydactyly with Foot Anomalies 1
                  Talipes + 41
                  Talonavicular Coalition 0
                  Tarsal Coalition 0
                  Teebi Syndrome 0
                  Terminal Osseous Dysplasia and Pigmentary Defects 1
                  Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                  Ulnar Hypoplasia Lobster Claw Deformity of Feet 0
                  Van Maldergem syndrome + 2
                  Vertical Talus, Congenital 1
                  Zechi-Ceide Syndrome 0
                  acheiropody 1
                  brachydactyly type E1 1
                  brachydactyly type E2 1
                  ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
                  hand-foot-genital syndrome 1
                  oculodentodigital dysplasia + 1
                  split hand-foot malformation 1 with sensorineural hearing loss 1
                  tarsal-carpal coalition syndrome 3
                  trichorhinophalangeal syndrome type III 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.