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 E (C566194)

       Child Nodes:
........expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)



 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:1424
Name:Brachydactyly, Type E
Definition:
Alternative IDs:
ParentIDs:MESH:D059327
TreeNumbers:C05.660.585.262/C566194 |C16.131.621.585.262/C566194
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566194
MeSH: C566194
OMIM: 113300;

Genes: HOXD13;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001156Brachydactyly
3 HP:0008848Moderately short stature
4 HP:0001571Multiple impacted teeth
5 HP:0000311Round face
6 HP:0000894Short clavicles
7 HP:0010049Short metacarpal
8 HP:0010743Short metatarsal
9 HP:0006587Straight clavicles
10 HP:0005863Type E brachydactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000523.3(HOXD13):c.947C>G (p.Ser316Cys)3239HOXD13Pathogenic28928892RCV000015997; RCV000015998; NMedGen:C0220664,OMIM:113200; MedGen:C1862102,OMIM:1133002176959373176959373NM_000523.3:c.947C>GNP_000514.2:p.Ser316CysNC_000002.11:g.176959373C>GOMIM Allelic Variant:142989.0005C0220664 113200 Brachydactyly type D; C1862102 113300 Brachydactyly type E1
NM_000523.3(HOXD13):c.964A>C (p.Ile322Leu)3239HOXD13Pathogenic28928891RCV000015995; RCV000015996; NMedGen:C0220664,OMIM:113200; MedGen:C1862102,OMIM:1133002176959390176959390NM_000523.3:c.964A>CNP_000514.2:p.Ile322LeuNC_000002.11:g.176959390A>COMIM Allelic Variant:142989.0004C0220664 113200 Brachydactyly type D; C1862102 113300 Brachydactyly type E1