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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
brachydactyly +     
acrocapitofemoral dysplasia  
Ballard syndrome 
A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. (DO)
Berk-Tabatznik Syndrome 
Bork Stender Schmidt Syndrome 
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type A3 
brachydactyly type A4  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type A6 
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type C  
brachydactyly type D  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Long-Thumb Type 
Brachydactyly, Type A2, With Microcephaly 
Brachydactyly, Type E +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachydactyly-preaxial hallux varus syndrome 
brachydactyly-syndactyly syndrome  
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly  
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
Cryptomicrotia Brachydactyly Syndrome 
Digital Arthropathy-Brachydactyly, Familial  
Fibular Aplasia Ectrodactyly 
fibular hypoplasia and complex brachydactyly  
Fitzsimmons-Guilbert Syndrome 
GOMBO Syndrome 
Grange Syndrome  
Heart-Hand Syndrome, Spanish Type 
Hirschsprung Disease Type d Brachydactyly 
hypertension and brachydactyly syndrome  
Kumar Levick Syndrome 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Mononen-Karnes-Senac syndrome 
Multiple Synostoses Syndrome 1  
Prata Libéral Gonçalves Syndrome 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Sillence Syndrome 
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 
Sugarman brachydactyly 
temtamy preaxial brachydactyly syndrome  
Tonoki Syndrome 
Ulnar/Fibular Ray Defect and Brachydactyly  

Synonyms
Exact Synonyms: Brachydactyly Ballard type ;   Brachydactyly Types B and E Combined ;   Pitt Williams brachydactyly
Primary IDs: MESH:C537094
Alternate IDs: OMIM:112440 ;   RDO:0002868
Xrefs: ORDO:93395
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/4009643 "DO"

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