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Term:
brachydactyly type E1 (DOID:0110972)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
acheiropody  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acrootoocular Syndrome 
acrorenal syndrome +  
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 
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
aspartylglucosaminuria  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
Banki Syndrome 
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
Brachydactyly Type E, with Atrial Septal Defect, Type II 
brachydactyly type E1  
A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
brachydactyly type E2  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
CADASIL +   
CAKUT2  
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type +  
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
CAPOS Syndrome  
Carnevale Hernandez Castillo Syndrome 
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
cataract 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Catel Manzke Syndrome  
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
Chitayat Meunier Hodgkinson Syndrome 
chromosomal disease +   
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
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 +   
congenital vertical talus  
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
desquamative interstitial pneumonia  
Digitotalar Dysmorphism 
distal arthrogryposis type 3  
Distal Symphalangism +   
DOORS syndrome  
Dwarfism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Eiken syndrome  
Exostoses with Anetodermia and Brachydactyly Type E 
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
Femur Bifid with Monodactylous Ectrodactyly 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Genetic Skin Diseases +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goodman Camptodactyly 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrolethalus syndrome +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
IVIC syndrome  
Jackson-Weiss syndrome  
Johnson Munson Syndrome 
Kallmann syndrome +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Laminopathies  
Laurin-Sandrow syndrome  
Lennox-Gastaut syndrome  
Leri Pleonosteosis 
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Marfan syndrome +   
Metaphyseal Acroscyphodysplasia 
Metatarsus Varus, Type I 
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
monogenic disease +   
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Nervous System Heredodegenerative Disorders +   
Neurofaciodigitorenal Syndrome 
Nicolaides Baraitser Syndrome  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
oculodentodigital dysplasia +   
Odontotrichoungual-Digital-Palmar Syndrome 
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
osteochondrodysplasia +   
otopalatodigital syndrome spectrum disorder +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Patterson Stevenson Syndrome  
Pfeiffer Tietze Welte Syndrome 
polygenic disease +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Preaxial Polydactyly II  
primary hypertrophic osteoarthropathy +   
Progeroid Facial Appearance with Hand Anomalies 
progressive familial intrahepatic cholestasis +   
Pseudotrisomy 13 Syndrome  
pulmonary alveolar microlithiasis  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Ray Peterson Scott Syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
Second Metatarsal-Metacarpal Syndrome 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly type 8  
syndromic microphthalmia 8  
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies 
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome +   
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Tollner Horst Manzke Syndrome 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tukel Syndrome 
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vohwinkel syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
yellow nail syndrome +  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: BDE1
Primary IDs: OMIM:113300
Alternate IDs: RDO:0007896
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12649808 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8933344 "DO"

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