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Ontology Browser

Term:
brachydactyly type B2 (DOID:0110975)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
brachydactyly +     
genetic disease +     
acrocapitofemoral dysplasia  
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
aspartylglucosaminuria  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
Ballard syndrome 
Berk-Tabatznik Syndrome 
Bork Stender Schmidt Syndrome 
brachydactyly type A1 +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type A2  
brachydactyly type A3 
brachydactyly type A4  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type A6 
brachydactyly type B1  
brachydactyly type B2  
A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)
brachydactyly type C  
brachydactyly type D  
brachydactyly type E1  
brachydactyly type E2  
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  
CADASIL +   
CAKUT2  
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
cataract 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
chromosomal disease +   
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly  
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
Cryptomicrotia Brachydactyly Syndrome 
desquamative interstitial pneumonia  
Digital Arthropathy-Brachydactyly, Familial  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
Fibular Aplasia Ectrodactyly 
fibular hypoplasia and complex brachydactyly  
Fitzsimmons-Guilbert Syndrome 
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
GOMBO Syndrome 
Grange Syndrome  
Heart-Hand Syndrome, Spanish Type 
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hirschsprung Disease Type d Brachydactyly 
hypertension and brachydactyly syndrome  
hypogonadotropic hypogonadism 5 with or without anosmia +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kumar Levick Syndrome 
Laminopathies  
Lennox-Gastaut syndrome  
Marfan syndrome +   
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
monogenic disease +   
Mononen-Karnes-Senac syndrome 
Multiple Synostoses Syndrome 1  
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
polygenic disease +   
Prata Libéral Gonçalves Syndrome 
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
pulmonary alveolar microlithiasis  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Sacral Agenesis with Vertebral Anomalies  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Sillence Syndrome 
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Sugarman brachydactyly 
temtamy preaxial brachydactyly syndrome  
Tonoki Syndrome 
Ulnar/Fibular Ray Defect and Brachydactyly  
yellow nail syndrome +  

Synonyms
Exact Synonyms: BDB2
Primary IDs: OMIM:611377
Alternate IDs: RDO:0009521
Xrefs: ICD10CM:Q73.8 ;   ORDO:140908
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17668388 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.