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:
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Hand Deformities (D006226)
Parent Node:
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Limb Deformities, Congenital (D017880)
Parent Node:
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Upper Extremity Deformities, Congenital (D038062)
..Starting node
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Hand Deformities, Congenital (D006228)

       Child Nodes:
........expandAarskog Syndrome (C535331) Child1
........expandAcheiropodia (C536014)
........expandAcrofacial dysostosis Rodriguez type (C538183)
........expandAcrofacial dysostosis, Palagonia type (C538185)
........expandAcrootoocular Syndrome (C564866)
........expandAcrorenal Syndrome (C563159)
........expandAdactylia, Unilateral (C562417)
........expandAnonychia-Ectrodactyly (C566277)
........expandAnonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
........expandAphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
........expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
........expandBanki Syndrome (C566228)
........expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
........expandBRACHYDACTYLY, TYPE E2 (OMIM:613382)
........expandCamptodactyly 1 (C567780)
........expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
........expandCamptodactyly syndrome Guadalajara type 1 (C537970)
........expandCamptodactyly syndrome Guadalajara type 2 (C537971)
........expandCamptodactyly taurinuria (C537972)
........expandCamptodactyly vertebral fusion (C537973)
........expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
........expandCamptodactyly-ichthyosis syndrome (C537976)
........expandCamptosynpolydactyly, Complex (C564383)
........expandCarnevale Hernandez Castillo syndrome (C535585)
........expandCatel Manzke syndrome (C535347)
........expandCATSHL syndrome (C537975)
........expandChitayat Meunier Hodgkinson syndrome (C535926)
........expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
........expandCoffin-Siris syndrome (C536436)
........expandCranioacrofacial Syndrome (C565147)
........expandCraniosynostosis, Adelaide Type (C563471)
........expandCrisponi syndrome (C536214)
........expandDaneman Davy Mancer syndrome (C535986)
........expandDeafness, congenital onychodystrophy, recessive form (C538204)
........expandDigitorenocerebral Syndrome (C563052)
........expandDigitotalar Dysmorphism (C565097)
........expandDwarfism stiff joint ocular abnormalities (C535724)
........expandDystelephalangy (C538000)
........expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
........expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
........expandEctrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)
........expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
........expandEctrodactyly-Cleft Palate Syndrome (C565064)
........expandEiken Skeletal Dysplasia (C564010)
........expandFacial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
........expandFairbank disease (C536393)
........expandFemur bifid with monodactylous ectrodactyly (C537917)
........expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
........expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
........expandFrints De Smet Fabry Fryns syndrome (C538062)
........expandFrontootopalatodigital Osteodysplasia (C567578)
........expandFuhrmann syndrome (C538189)
........expandGoodman camptodactyly (C537287)
........expandGordon syndrome (C537288)
........expandGrowth mental deficiency syndrome of Myhre (C537620)
........expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
........expandHairy palms and soles (C535620)
........expandHand foot uterus syndrome (C535627)
........expandHeart-hand syndrome, Slovenian type (C535852)
........expandHecht Scott syndrome (C535856)
........expandHoloprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
........expandHydrolethalus syndrome (C536079)
........expandJacobs syndrome (C537560)
........expandJohnson Munson syndrome (C535881)
........expandKeutel syndrome (C536167)
........expandLaurin-Sandrow syndrome (C535689)
........expandLeri pleonosteosis (C537118)
........expandMacrodactyly of the hand (C537720)
........expandMAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
........expandMetacarpal 4 5 Fusion (C564100)
........expandMetaphyseal acroscyphodysplasia (C537350)
........expandMichels Caskey syndrome (C537576)
........expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
........expandMononen Karnes Senac syndrome (C535914)
........expandMorillo-Cucci Passarge syndrome (C536983)
........expandMuller Barth Menger syndrome (C537370)
........expandNeurofaciodigitorenal syndrome (C537388)
........expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
........expandOculootoradial syndrome (C535544)
........expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
........expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
........expandOslam syndrome (C537138)
........expandOto-Palato-digital syndrome type 1 (C536065)
........expandOto-palato-digital syndrome, type 2 (C538089)
........expandOtopalatodigital Spectrum Disorder (C567577)
........expandPatent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
........expandPfeiffer Tietze Welte syndrome (C537891)
........expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
........expandProgeroid Facial Appearance with Hand Anomalies (C566563)
........expandPseudotrisomy 13 syndrome (C535829)
........expandPterygium colli mental retardation digital anomalies (C535831)
........expandRadio-ulnar synostosis type 1 (C536268)
........expandRadio-ulnar synostosis type 2 (C536269)
........expandRhizomelic dysplasia Patterson Lowry type (C537609)
........expandRichieri Costa Guion-Almeida syndrome (C535676)
........expandRichieri Costa Pereira syndrome (C535677)
........expandRozin Hertz Goodman syndrome (C535876)
........expandSaal Bulas syndrome (C537193)
........expandSanderson Fraser syndrome (C537232)
........expandSay Field Coldwell syndrome (C536619)
........expandSchinzel-Giedion syndrome (C536632)
........expandSecond Metatarsal-Metacarpal Syndrome (C564824)
........expandSplit hand split foot nystagmus (C537319)
........expandSplit-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
........expandSpondylocamptodactyly (C535779)
........expandStoll Alembik Dott syndrome (C537497)
........expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
........expandSymphalangism, C. S. Lewis Type (C566100)
........expandSymphalangism, Distal (C566099) Child1
........expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
........expandSynpolydactyly 2 (C564278)
........expandTabatznik syndrome (C536784)
........expandTeebi Kaurah syndrome (C536948)
........expandTeebi syndrome (C536951)
........expandTel Hashomer camptodactyly syndrome (C536953)
........expandTendons, Extensor, of Fingers, Anomalous Insertion of (C566068)
........expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
........expandTollner Horst Manzke syndrome (C536964)
........expandTrichorhinophalangeal Syndrome, Type III (C566033)
........expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
........expandTriphalangeal Thumb (C573898)
........expandTriphalangeal thumb non opposable (C536562)
........expandTriphalangeal Thumb with Double Phalanges (C566028)
........expandTukel syndrome (C536925)
........expandVan Maldergem Wetzburger Verloes syndrome (C536530)
........expandVentricular extrasystoles perodactyly Robin sequence (C536537)
........expandVohwinkel syndrome (C536457)
........expandWalbaum Titran Durieux Crepin syndrome (C536566)
........expandWeaver syndrome (C536687)
........expandWeaver-Like Syndrome (C562443)
........expandWeyers ulnar ray/oligodactyly syndrome (C536696)
........expandZimmerman Laband syndrome (C536725)



 Sister Nodes: 
..expandAbsent radii and thrombocytopenia (C536940)
..expandCubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..expandFryns Hofkens Fabry syndrome (C538069)
..expandHand Deformities, Congenital (D006228) Child134
..expandHolt-Oram syndrome (C535326)
..expandHypomelia mullerian duct anomalies (C537155)
..expandOphthalmomandibulomelic Dysplasia (C563501)
..expandRadio renal syndrome (C536267)
..expandTamari Goodman syndrome (C536896)
..expandTerminal Transverse Defects of Arm (C565681)
..expandUlnar hypoplasia lobster claw deformity of feet (C536936)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4886
Name:Hand Deformities, Congenital
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Alternative IDs:
ParentIDs:MESH:D006226|MESH:D017880|MESH:D038062
TreeNumbers:C05.390.408 |C05.660.585.988.425 |C16.131.621.585.425
Synonyms:Congenital Hand Deformities |Congenital Hand Deformity |Deformities, Congenital Hand |Deformity, Congenital Hand |Hand Deformity, Congenital
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: D006228
MeSH: D006228
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants