Disease Browser
Parent Node: Brachydactyly (D059327) ..Starting node .. Brachydactyly types B and E combined (C537094) Child Nodes:
Sister Nodes: ..Acrocapitofemoral Dysplasia (C564334) ..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379) ..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529) ..Berk-Tabatznik syndrome (C535432) ..Bork Stender Schmidt syndrome (C536576) ..Brachydactyly preaxial with hallux varus and thumb abduction (C537087) ..Brachydactyly type A1 (C537088) ..Brachydactyly type A2 (C537089) ..Brachydactyly type A3 (C537090) ..Brachydactyly type A5 nail dysplasia (C537091) ..Brachydactyly type A6 (C537092) ..Brachydactyly type C (C537093) ..Brachydactyly types B and E combined (C537094) ..Brachydactyly with hypertension (C537095) ..Brachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484) ..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521) ..Brachydactyly, Long-Thumb Type (C566204) ..Brachydactyly, Type A1, B (C564635) ..Brachydactyly, Type A2, With Microcephaly (C565894) ..Brachydactyly, Type B1 (C566196) ..BRACHYDACTYLY, TYPE B2 (OMIM:611377) ..Brachydactyly, Type D (C562420) ..Brachydactyly, Type E (C566194) 1 ..Brachydactyly, Type E, with Atrial Septal Defect, Type II (C566193) ..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430) ..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192) ..Brachydactyly-Syndactyly Syndrome (C565193) ..Brachymesophalangy 2 and 5 (C537097) ..Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119) ..Coloboma of Macula and Skeletal Anomalies (C565686) ..Coloboma of macula type B brachydactyly (C535969) ..Cryptomicrotia brachydactyly syndrome (C536219) ..Digital Arthropathy-Brachydactyly, Familial (C564656) ..Exostoses with Anetodermia and Brachydactyly, Type E (C565034) ..Fibular aplasia ectrodactyly (C537930) ..Fibular hypoplasia and complex brachydactyly (C537931) ..Fitzsimmons-Guilbert syndrome (C537938) ..GOMBO syndrome (C537284) ..Heart-hand syndrome, Spanish type (C535853) ..Hirschsprung disease type d brachydactyly (C538319) ..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586) ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500) ..Prata Libéral Gonçalves syndrome (C538277) ..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207) ..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880) ..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093) ..Sillence syndrome (C537338) ..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128) ..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090) ..Temtamy preaxial brachydactyly syndrome (C536958) ..Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053) ..Tonoki syndrome (C536967) ..Ulnar/Fibular Ray Defect and Brachydactyly (C563905) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 1428
Name: Brachydactyly types B and E combined
Definition:
Alternative IDs:
ParentIDs: MESH:D059327
TreeNumbers: C05.660.585.262/C537094 |C16.131.621.585.262/C537094
Synonyms: Brachydactyly Ballard type |Brachydactyly, Ballard Type |Brachydactyly, combined B and E types |Pitt Williams brachydactyly |Pitt-Williams Brachydactyly
Slim Mappings: Congenital abnormality|Musculoskeletal disease
Reference:
MedGen: C537094
MeSH: C537094
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants