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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Limb Deformities, Congenital (D017880)
..Starting node
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Brachydactyly (D059327)

       Child Nodes:
........expandAcrocapitofemoral Dysplasia (C564334)
........expandAnonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
........expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
........expandBerk-Tabatznik syndrome (C535432)
........expandBork Stender Schmidt syndrome (C536576)
........expandBrachydactyly preaxial with hallux varus and thumb abduction (C537087)
........expandBrachydactyly type A1 (C537088)
........expandBrachydactyly type A2 (C537089)
........expandBrachydactyly type A3 (C537090)
........expandBrachydactyly type A5 nail dysplasia (C537091)
........expandBrachydactyly type A6 (C537092)
........expandBrachydactyly type C (C537093)
........expandBrachydactyly types B and E combined (C537094)
........expandBrachydactyly with hypertension (C537095)
........expandBrachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484)
........expandBrachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
........expandBrachydactyly, Long-Thumb Type (C566204)
........expandBrachydactyly, Type A1, B (C564635)
........expandBrachydactyly, Type A2, With Microcephaly (C565894)
........expandBrachydactyly, Type B1 (C566196)
........expandBRACHYDACTYLY, TYPE B2 (OMIM:611377)
........expandBrachydactyly, Type D (C562420)
........expandBrachydactyly, Type E (C566194) Child1
........expandBrachydactyly, Type E, with Atrial Septal Defect, Type II (C566193)
........expandBRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
........expandBrachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
........expandBrachydactyly-Syndactyly Syndrome (C565193)
........expandBrachymesophalangy 2 and 5 (C537097)
........expandCleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119)
........expandColoboma of Macula and Skeletal Anomalies (C565686)
........expandColoboma of macula type B brachydactyly (C535969)
........expandCryptomicrotia brachydactyly syndrome (C536219)
........expandDigital Arthropathy-Brachydactyly, Familial (C564656)
........expandExostoses with Anetodermia and Brachydactyly, Type E (C565034)
........expandFibular aplasia ectrodactyly (C537930)
........expandFibular hypoplasia and complex brachydactyly (C537931)
........expandFitzsimmons-Guilbert syndrome (C537938)
........expandGOMBO syndrome (C537284)
........expandHeart-hand syndrome, Spanish type (C535853)
........expandHirschsprung disease type d brachydactyly (C538319)
........expandMetaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
........expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
........expandPrata Libéral Gonçalves syndrome (C538277)
........expandProlonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
........expandRobin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
........expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
........expandSillence syndrome (C537338)
........expandSpondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
........expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
........expandTemtamy preaxial brachydactyly syndrome (C536958)
........expandThumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
........expandTonoki syndrome (C536967)
........expandUlnar/Fibular Ray Defect and Brachydactyly (C563905)



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAbruzzo Erickson syndrome (C535559)
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAcromicric dysplasia (C535662) Child1
..expandAcropectoral syndrome (C535664)
..expandAcropectorovertebral Dysplasia, F-Form (C566319)
..expandAcrorenal syndrome recessive (C535666)
..expandAdams Oliver syndrome (C538225)
..expandArachnodactyly (D054119) Child10
..expandArms, Malformation of (C566258)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBagatelle Cassidy syndrome (C537796)
..expandBrachydactyly (D059327) Child54
..expandBrachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..expandBrachyolmia, recessive Hobaek type (C537099)
..expandCalabro syndrome (C537960)
..expandCamptobrachydactyly (C537967)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandChondrodysplasia, acromesomelic, with genital anomalies (C537913)
..expandCOCOON SYNDROME (OMIM:613630)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCraniomicromelic Syndrome (C566522)
..expandDiaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..expandEctrodactyly (C574275)
..expandEctrodactyly-Polydactyly (C565601)
..expandEctromelia (D004480) Child22
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFoot Deformities, Congenital (D005532) Child78
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandFryns syndrome (C538070)
..expandGenee-Wiedemann syndrome (C537680)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHand and foot deformity with flat facies (C535626)
..expandHand Deformities, Congenital (D006228) Child134
..expandHanhart syndrome (C535629)
..expandHeart defects limb shortening (C535850)
..expandHypochondroplasia (C562937)
..expandHypoglossia-Hypodactylia (C566308)
..expandIchthyosis tapered fingers midline groove up (C536272)
..expandKaplan Plauchu Fitch syndrome (C536892)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandKrause-Kivlin syndrome (C537617)
..expandKuster syndrome (C538126)
..expandLaryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..expandLe Marec Bracq Picaud syndrome (C536997)
..expandLimb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..expandLimb Deficiencies, Distal, with Micrognathia (C565437)
..expandLimb-mammary syndrome (C535903)
..expandLower Extremity Deformities, Congenital (D038061) Child89
..expandLynch Lee Murday syndrome (C537713)
..expandMegalodactyly (C562546)
..expandMental retardation spasticity ectrodactyly (C537446)
..expandMesomelia-synostoses syndrome (C537348)
..expandMetaphyseal anadysplasia (C537351)
..expandMetaphyseal Anadysplasia 1 (C567545)
..expandMetaphyseal Anadysplasia 2 (C567771)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNeu Laxova syndrome (C536405)
..expandNievergelt syndrome (C536120)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandPalant cleft palate syndrome (C538102)
..expandPenttinen-Aula syndrome (C536653)
..expandPointer syndrome (C536323)
..expandPolydactyly (D017689) Child61
..expandPostaxial Oligodactyly, Tetramelic (C566767)
..expandPowell Chandra Saal syndrome (C538357)
..expandPropping Zerres syndrome (C538052)
..expandProteus Syndrome (D016715) Child1
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRapadilino syndrome (C535288)
..expandReardon Hall Slaney syndrome (C535294)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRobinow syndrome, autosomal recessive (C535863)
..expandRuzicka Goerz Anton syndrome (C537192)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSplenogonadal fusion limb defects micrognatia (C537318)
..expandSplit hand foot deformity (C535777) Child2
..expandSplit hand foot deformity 1 (C567893)
..expandSplit-Hand And Split-Foot With Hypodontia (C566665)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSplit-Hand/Foot Malformation 4 (C565344)
..expandSplit-Hand/Foot Malformation 5 (C564674)
..expandSplit-Hand/Foot Malformation 6 (C567616)
..expandSplit-hand/foot malformation with long bone deficiency (C536425)
..expandSplit-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..expandSplit-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..expandSteinfeld Syndrome (C566655)
..expandStern Lubinsky Durrie syndrome (C537488)
..expandStratton-Parker Syndrome (C566105)
..expandSyndactyly (D013576) Child69
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTetramelic Monodactyly (C566066)
..expandThanatophoric Dysplasia (D013796) Child8
..expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..expandThoraco limb dysplasia Rivera type (C536516)
..expandThoracomelic Dysplasia (C564773)
..expandUlnar Hypoplasia with Mental Retardation (C564757)
..expandUpper Extremity Deformities, Congenital (D038062) Child145
..expandVACTERL association (C536495)
..expandVACTERL association with hydrocephaly, X-linked (C536520)
..expandVACTERL hydrocephaly (C536521)
..expandViljoen Kallis Voges syndrome (C536349)
..expandWeyers acrofacial dysostosis (C536695)
..expandWright Dyck syndrome (C536749)
..expandYunis Varon syndrome (C536719)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1405
Name:Brachydactyly
Definition:Congenital anomaly of abnormally short fingers or toes.
Alternative IDs:
ParentIDs:MESH:D017880
TreeNumbers:C05.660.585.262 |C16.131.621.585.262
Synonyms:Brachydactylia |Brachydactylias |Brachydactylies |Brachydactylism |Brachydactylisms
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: D059327
MeSH: D059327
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants