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:
expandBrachydactyly (D059327)
..Starting node
..expandBRACHYDACTYLY, TYPE B2 (OMIM:611377)

       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:1421
Name:BRACHYDACTYLY, TYPE B2
Definition:
Alternative IDs:
ParentIDs:MESH:D059327
TreeNumbers:C05.660.585.262/611377 |C16.131.621.585.262/611377
Synonyms:BDB2
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: 611377
MeSH: 611377
OMIM: 611377;

Genes: NOG;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0006109Absent phalangeal creaseHP:0040282
3 HP:0009835Aplasia/Hypoplasia of the distal phalanges of the handHP:0040282
4 HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toesHP:0040282
5 HP:0009843Aplasia/Hypoplasia of the middle phalanges of the handHP:0040282
6 HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toesHP:0040282
7 HP:0008386Aplasia/Hypoplasia of the nailsHP:0040282
8 HP:0009702Carpal synostosisHP:0040284
9 HP:0010554Cutaneous finger syndactylyHP:0040282
10 HP:0010621Cutaneous syndactyly of toesHP:0040282
11 HP:0001204Distal symphalangism of handsHP:0040284
12 HP:0000540HypermetropiaHP:0040283
13 HP:0009623Proximal placement of thumbHP:0040282
14 HP:0006152Proximal symphalangism of handsHP:0040284
15 HP:0000407Sensorineural hearing impairmentHP:0040283
16 HP:0010034Short 1st metacarpalHP:0040284
17 HP:0009882Short distal phalanx of finger
18 HP:0008368Tarsal synostosisHP:0040282
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005450.4(NOG):c.103C>T (p.Pro35Ser)9241NOGPathogenic28937580RCV000007093; RCV000007094; RCV000007095; NMedGen:C1861385,OMIM:185800,ORPHA:3250; MedGen:C1866656,OMIM:184460,ORPHA:140917; MedGen:C1969652,OMIM:611377,ORPHA:140908175467168754671687NM_005450.4:c.103C>TNP_005441.1:p.Pro35SerNC_000017.10:g.54671687C>G,NC_000017.10:g.54671687C>TOMIM Allelic Variant:602991.0012C1969652 611377 Brachydactyly type B2; C1861385 185800 Cushing's symphalangism; C1866656 184460 Stapes ankylosis with broad thumb and toes
NM_005450.4(NOG):c.103C>G (p.Pro35Ala)9241NOGPathogenic28937580RCV000007100; NMedGen:C1969652,OMIM:611377,ORPHA:140908175467168754671687NM_005450.4:c.103C>GNP_005441.1:p.Pro35AlaNC_000017.10:g.54671687C>G,NC_000017.10:g.54671687C>TOMIM Allelic Variant:602991.0017C1969652 611377 Brachydactyly type B2
NM_005450.4(NOG):c.499C>G (p.Arg167Gly)9241NOGPathogenic121908949RCV000007092; NMedGen:C1969652,OMIM:611377,ORPHA:140908175467208354672083NM_005450.4:c.499C>GNP_005441.1:p.Arg167GlyNC_000017.10:g.54672083C>GOMIM Allelic Variant:602991.0018C1969652 611377 Brachydactyly type B2