Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandFoot Deformities, Congenital (D005532)
..Starting node
..expandVertical talus, congenital (C536345)

       Child Nodes:



 Sister Nodes: 
..expandAcheiropodia (C536014)
..expandAcrootoocular Syndrome (C564866)
..expandAnonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..expandAphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
..expandBRACHYDACTYLY, TYPE E2 (OMIM:613382)
..expandBrachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..expandCamptosynpolydactyly, Complex (C564383)
..expandCAPOS syndrome (C535351)
..expandCharcot-Marie-Tooth Disease, Foot Deformity of (C564179)
..expandCleft Palate, Deafness, and Oligodontia (C565844)
..expandClubfoot (D003025) Child9
..expandCraniosynostosis, Adelaide Type (C563471)
..expandDaneman Davy Mancer syndrome (C535986)
..expandDeafness, congenital onychodystrophy, recessive form (C538204)
..expandDigitotalar Dysmorphism (C565097)
..expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
..expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
..expandEiken Skeletal Dysplasia (C564010)
..expandFairbank disease (C536393)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFrias syndrome (C535639)
..expandFried Goldberg Mundel syndrome (C535640)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandFuhrmann syndrome (C538189)
..expandGame Friedman Paradice syndrome (C535406)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHairy palms and soles (C535620)
..expandHand foot uterus syndrome (C535627)
..expandJackson-Weiss syndrome (C537559)
..expandJohnson Munson syndrome (C535881)
..expandLaurin-Sandrow syndrome (C535689)
..expandMacrodactyly of the foot (C537719)
..expandMAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..expandMetatarsus Varus, Type I (C563585)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMononen Karnes Senac syndrome (C535914)
..expandMonophalangy of Great Toe (C563570)
..expandNicolaides Baraitser syndrome (C536116)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandOculodentodigital Dysplasia (C563160)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOslam syndrome (C537138)
..expandPfeiffer Tietze Welte syndrome (C537891)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRadial defect Robin sequence (C536261)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRay Peterson Scott syndrome (C535292)
..expandRichieri Costa Guion-Almeida syndrome (C535676)
..expandSandhaus Ben-Ami syndrome (C537233)
..expandSecond Metatarsal-Metacarpal Syndrome (C564824)
..expandSplit hand split foot nystagmus (C537319)
..expandSplit-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..expandStoll Alembik Dott syndrome (C537497)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSymphalangism, Distal (C566099) Child1
..expandSynpolydactyly 2 (C564278)
..expandSynpolydactyly With Foot Anomalies (C566095)
..expandTalonavicular coalition (C536895)
..expandTeebi syndrome (C536951)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTrichorhinophalangeal Syndrome, Type III (C566033)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandUlnar hypoplasia lobster claw deformity of feet (C536936)
..expandVan Maldergem Wetzburger Verloes syndrome (C536530)
..expandVertical talus, congenital (C536345)
..expandZechi-Ceide Syndrome (C567865)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11587
Name:Vertical talus, congenital
Definition:
Alternative IDs:OMIM:192950
ParentIDs:MESH:D005532
TreeNumbers:C05.330.495/C536345 |C05.660.585.512.380/C536345 |C16.131.621.585.380/C536345
Synonyms:CVT |Pes valgus, congenital convex |Rocker-bottom foot
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C536345
MeSH: C536345
OMIM: 192950;

Genes: HOXD10;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001369Arthritis
3 HP:0001848Calcaneovalgus deformity
4 HP:0008138Equinus calcaneus
5 HP:0001838Rocker bottom foot
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002148.3(HOXD10):c.956T>A (p.Met319Lys)3236HOXD10Pathogenic104893634RCV000016006; NMedGen:C0240912,OMIM:192950,ORPHA:1783822176983892176983892NM_002148.3:c.956T>ANP_002139.2:p.Met319LysNC_000002.11:g.176983892T>AOMIM Allelic Variant:142984.0001C0240912 192950 Vertical talus, congenital