Ontology Browser

Term:
brachydactyly type E1 (DOID:0110972)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (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 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
AQUAPORIN 1 DEFICIENCY  
ataxia telangiectasia +   
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 
Brugada syndrome +   
CADASIL +   
CAKUT2  
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
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 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Catel Manzke Syndrome  
Cenani-Lenz syndactyly syndrome  
Charcot-Marie-Tooth Disease, Foot Deformity of 
CHARGE syndrome  
cherubism +   
Chitayat Meunier Hodgkinson Syndrome 
chromosomal disease +   
ciliopathy +   
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
cocoon syndrome  
Coffin-Siris syndrome +   
COL4A1-related familial vascular leukoencephalopathy  
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 adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
congenital central hypoventilation syndrome  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
corneal opacification and other ocular anomalies +   
cortical dysplasia-focal epilepsy syndrome  
corticosteroid-binding globulin deficiency  
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
cutaneous T cell lymphoma +   
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
desquamative interstitial pneumonia  
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy 1Z  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
distal myopathy 1  
Distal Symphalangism +   
Doyne honeycomb retinal dystrophy  
Dwarfism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
dystonia 12  
dystonia 16  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 27  
dystonia 5  
dystonia 9  
early-onset Parkinson's disease 20  
EAST syndrome  
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
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 Skeletal Dysplasia  
endocrine-cerebro-osteodysplasia syndrome  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
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 hypocalciuric hypercalcemia 1  
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
familial nephrotic syndrome +   
Familial Temporal Epilepsy +   
fatal infantile hypertonic myofibrillar myopathy  
Femur Bifid with Monodactylous Ectrodactyly 
fibrodysplasia ossificans progressiva  
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
focal segmental glomerulosclerosis 9  
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Genetic Skin Diseases +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goldberg-Shprintzen syndrome  
Goodman Camptodactyly 
Gordon Syndrome  
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
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 Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hereditary neutrophilia  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrolethalus syndrome +   
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperimmunoglobulin syndrome +   
hyperphosphatemia +   
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
immunoglobulin alpha deficiency +   
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 21 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 25  
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 28  
inflammatory bowel disease 3 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
inherited blood coagulation disease +   
inherited metabolic disorder +   
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 4  
isolated microphthalmia 6  
isolated microphthalmia 8  
Isolated Prolactin Deficiency 
Jackson-Weiss Syndrome  
Johnson Munson Syndrome 
juvenile onset Parkinson's disease 19A  
Kallmann syndrome +   
Kartagener syndrome  
karyomegalic interstitial nephritis  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kufor-Rakeb syndrome  
lambda 5 deficiency 
Laminopathies  
Laurin-Sandrow Syndrome  
Lennox-Gastaut syndrome  
Leri Pleonosteosis 
lethal congenital contracture syndrome 1  
lethal congenital contracture syndrome 2  
lethal congenital contracture syndrome 3  
lethal congenital contracture syndrome 4  
lethal restrictive dermopathy  
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
lymphoproliferative syndrome 2  
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Marfan syndrome +   
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metatarsus Varus, Type I 
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Miyoshi muscular dystrophy 1  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Muenke syndrome  
Muller Barth Menger Syndrome 
myoclonic dystonia 11  
myoclonic dystonia 26  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 4  
nemaline myopathy 5  
nemaline myopathy 6  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 3  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
Nicolaides Baraitser Syndrome  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
Noonan syndrome 10  
Noonan syndrome 3  
Noonan syndrome 5  
Norman-Roberts syndrome  
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
osteochondrodysplasia +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
Parotidomegaly, Hereditary Bilateral 
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Peters anomaly +   
Pfeiffer syndrome  
Pfeiffer Tietze Welte Syndrome 
Pitt-Hopkins syndrome +   
platelet-type bleeding disorder 10  
poikiloderma with neutropenia  
polycystic kidney disease +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
postural orthostatic tachycardia syndrome  
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
Progeroid Facial Appearance with Hand Anomalies 
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive familial intrahepatic cholestasis +   
prune belly syndrome +   
Pseudotrisomy 13 Syndrome 
pulmonary alveolar microlithiasis  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
RASopathies  
Ray Peterson Scott Syndrome 
Rh deficiency syndrome  
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
right atrial isomerism  
Ritscher-Schinzel syndrome 1  
Ritscher-Schinzel syndrome 2  
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Saethre-Chotzen syndrome  
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 13 
schizophrenia 14 
schizophrenia 15  
schizophrenia 16  
schizophrenia 18  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schizophrenia 9  
sclerosteosis 1  
sclerosteosis 2  
Second Metatarsal-Metacarpal Syndrome 
Sorsby's fundus dystrophy  
SOST-related sclerosing bone dysplasia  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 8  
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
split hand-foot malformation 6  
Spondylocamptodactyly 
spondylocarpotarsal synostosis syndrome  
Stoll Alembik Dott Syndrome 
Stormorken syndrome  
subacute sclerosing panencephalitis +   
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
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  
tibial muscular dystrophy  
Tollner Horst Manzke Syndrome 
torsion dystonia 17 
torsion dystonia 7  
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 
ulnar-mammary syndrome  
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vertical Talus, Congenital  
Vohwinkel Syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Warsaw breakage syndrome  
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
WHIM 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, https://www.ncbi.nlm.nih.gov/pubmed/8933344

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