Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBrachydactyly (D059327)
..Starting node
..expandUlnar/Fibular Ray Defect and Brachydactyly (C563905)

       Child Nodes:



 Sister 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)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11366
Name:Ulnar/Fibular Ray Defect and Brachydactyly
Definition:
Alternative IDs:
ParentIDs:MESH:D059327
TreeNumbers:C05.660.585.262/C563905 |C16.131.621.585.262/C563905
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C563905
MeSH: C563905
OMIM: 608571;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001631Atrial septal defect
3 HP:0001776Bilateral talipes equinovarus
4 HP:0001156Brachydactyly
5 HP:0003038Fibular hypoplasia
6 HP:0002007Frontal bossing
7 HP:0001028Hemangioma
8 HP:0100559Lower limb asymmetry
9 HP:0000272Malar flattening
10 HP:0011800Midface retrusion
11 HP:0006210Postaxial oligodactyly
12 HP:0011220Prominent forehead
13 HP:0000311Round face
14 HP:0004322Short stature
15 HP:0001770Toe syndactyly
16 HP:0005036Unilateral ulnar hypoplasia
Disease Causing ClinVar Variants