Disease Browser
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Parent Node: Foot Deformities, Congenital (D005532) | ..Starting node ..Clubfoot (D003025)
| Child Nodes:
| ........Camptodactyly joint contractures and facial skeletal dysplasia (C537969) | ........Crane-Heise syndrome (C536452) | ........EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776) | ........Gordon syndrome (C537288) | ........Lambert syndrome (C538396) | ........Richieri Costa Pereira syndrome (C535677) | ........Santos Syndrome (C567819) | ........TARP syndrome (C536942) | ........Ulna hypoplasia with mental retardation (C536934) |
Sister Nodes: | ..Acheiropodia (C536014)
| ..Acrootoocular Syndrome (C564866)
| ..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
| ..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
| ..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
| ..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
| ..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
| ..Camptosynpolydactyly, Complex (C564383)
| ..CAPOS syndrome (C535351)
| ..Charcot-Marie-Tooth Disease, Foot Deformity of (C564179)
| ..Cleft Palate, Deafness, and Oligodontia (C565844)
| ..Clubfoot (D003025) 9
| ..Craniosynostosis, Adelaide Type (C563471)
| ..Daneman Davy Mancer syndrome (C535986)
| ..Deafness, congenital onychodystrophy, recessive form (C538204)
| ..Digitotalar Dysmorphism (C565097)
| ..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
| ..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
| ..Eiken Skeletal Dysplasia (C564010)
| ..Fairbank disease (C536393)
| ..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
| ..Frias syndrome (C535639)
| ..Fried Goldberg Mundel syndrome (C535640)
| ..Frints De Smet Fabry Fryns syndrome (C538062)
| ..Fuhrmann syndrome (C538189)
| ..Game Friedman Paradice syndrome (C535406)
| ..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
| ..Hairy palms and soles (C535620)
| ..Hand foot uterus syndrome (C535627)
| ..Jackson-Weiss syndrome (C537559)
| ..Johnson Munson syndrome (C535881)
| ..Laurin-Sandrow syndrome (C535689)
| ..Macrodactyly of the foot (C537719)
| ..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
| ..Metatarsus Varus, Type I (C563585)
| ..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
| ..Mononen Karnes Senac syndrome (C535914)
| ..Monophalangy of Great Toe (C563570)
| ..Nicolaides Baraitser syndrome (C536116)
| ..NOG-Related-Symphalangism Spectrum Disorder (C536943)
| ..Oculodentodigital Dysplasia (C563160)
| ..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
| ..Oslam syndrome (C537138)
| ..Pfeiffer Tietze Welte syndrome (C537891)
| ..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
| ..Radial defect Robin sequence (C536261)
| ..Radio-ulnar synostosis type 1 (C536268)
| ..Radio-ulnar synostosis type 2 (C536269)
| ..Ray Peterson Scott syndrome (C535292)
| ..Richieri Costa Guion-Almeida syndrome (C535676)
| ..Sandhaus Ben-Ami syndrome (C537233)
| ..Second Metatarsal-Metacarpal Syndrome (C564824)
| ..Split hand split foot nystagmus (C537319)
| ..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
| ..Stoll Alembik Dott syndrome (C537497)
| ..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
| ..Symphalangism, Distal (C566099) 1
| ..Synpolydactyly 2 (C564278)
| ..Synpolydactyly With Foot Anomalies (C566095)
| ..Talonavicular coalition (C536895)
| ..Teebi syndrome (C536951)
| ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
| ..Trichorhinophalangeal Syndrome, Type III (C566033)
| ..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
| ..Ulnar hypoplasia lobster claw deformity of feet (C536936)
| ..Van Maldergem Wetzburger Verloes syndrome (C536530)
| ..Vertical talus, congenital (C536345)
| ..Zechi-Ceide Syndrome (C567865)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2443 |
Name: | Clubfoot |
Definition: | A deformed foot in which the foot is plantarflexed, inverted and adducted. |
Alternative IDs: | OMIM:119800 |
ParentIDs: | MESH:D005532 |
TreeNumbers: | C05.330.495.150 |C05.660.585.512.380.500 |C16.131.621.585.380.500 |
Synonyms: | CCF |Clubfoot, Congenital |CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY |Congenital Talipes Equinovarus |Equinovarus |Pie Torcido |Pie Torcidos |Talipe |Talipes |Talipes Equinovarus |Talipes Equinovarus, Congenital |
Slim Mappings: | Congenital abnormality|Musculoskeletal disease |
Reference: |
MedGen: D003025
MeSH: D003025
OMIM: 119800;
Genes: PITX1; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002653.4(PITX1):c.765_799del35 (p.Ala256Argfs) | 5307 | PITX1 | Pathogenic | 730882191 | RCV000030814; | N | MedGen:C0009081,OMIM:119800,ORPHA:293150 | 5 | 134364615 | 134364649 | NM_002653.4:c.765_799del35 | NP_002644.4:p.Ala256Argfs | NC_000005.9:g.134364615_134364649del35 | OMIM Allelic Variant:602149.0002 | C0009081 119800 Talipes equinovarus | | | NM_002653.4(PITX1):c.388G>A (p.Glu130Lys) | 5307 | PITX1 | Pathogenic | 121909109 | RCV000007934; | N | MedGen:C0009081,OMIM:119800,ORPHA:293150 | 5 | 134366980 | 134366980 | NM_002653.4:c.388G>A | NP_002644.4:p.Glu130Lys | NC_000005.9:g.134366980C>T | OMIM Allelic Variant:602149.0001 | C0009081 119800 Talipes equinovarus | | |
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