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Term:
brachydactyly type E2 (DOID:0110976)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3p- syndrome 
Aarskog syndrome +   
acheiropody  
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
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  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aphalangia Syndactyly Microcephaly 
Aquaporin 1 Deficiency  
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
Auriculoosteodysplasia 
autoimmune lymphoproliferative syndrome +   
Ayme-Gripp Syndrome  
Bainbridge-Ropers Syndrome  
Banki Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari 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  
brachydactyly type E2  
A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
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  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
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  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Catel Manzke Syndrome  
Cenani-Lenz syndactyly syndrome  
Charcot-Marie-Tooth Disease, Foot Deformity of 
CHARGE syndrome  
cherubism +   
Chitayat Meunier Hodgkinson Syndrome 
Chitty Hall Baraitser Syndrome 
chromosomal disease +   
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
Clark-Baraitser Syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
CODAS syndrome  
Coffin Syndrome 1 
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 +   
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Cranioacrofacial Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis, Adelaide Type 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Dermoids of Cornea 
desquamative interstitial pneumonia  
Devriendt syndrome 
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Symphalangism +   
DNA ligase IV deficiency  
Dubowitz syndrome 
Dwarfism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dyschondrosteosis and Nephritis 
Dystelephalangy 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
ECTODERMAL DYSPLASIA/SHORT STATURE 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 Skeletal Dysplasia  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Exostoses with Anetodermia and Brachydactyly Type E 
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fairbank Disease 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Osteochondritis Dissecans  
Familial Temporal Epilepsy +   
Femur Bifid with Monodactylous Ectrodactyly 
Fetal Growth Retardation +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi Syndrome  
Floating-Harbor Syndrome  
Forsythe-Wakeling Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genetic Skin Diseases +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Goodman Camptodactyly 
Gordon Syndrome  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows 
Hairy Palms and Soles 
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Heme Oxygenase 1 Deficiency  
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
hydrolethalus syndrome +   
hyperimmunoglobulin syndrome +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Idiopathic Short Stature, X-Linked  
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
inherited blood coagulation disease +   
inherited metabolic disorder +   
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Isolated Prolactin Deficiency 
Jackson-Weiss syndrome  
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Jorgenson Lenz Syndrome 
Kallmann syndrome +   
Kartagener syndrome  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Laminopathies  
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Laurin-Sandrow syndrome  
Lennox-Gastaut syndrome  
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Mammary-Digital-Nail Syndrome 
Marfan syndrome +   
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metatarsus Varus, Type I 
Michels Caskey Syndrome 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly with Mental Retardation and Digital Anomalies  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microdontia Hypodontia Short Stature 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mollica Pavone Antener Syndrome 
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Nervous System Heredodegenerative Disorders +   
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nicolaides Baraitser Syndrome  
Nijmegen Breakage Syndrome-Like Disorder  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Omodysplasia 1  
Onat Syndrome 
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
osteochondrodysplasia +   
Osteolysis Syndrome Recessive 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
Parotidomegaly, Hereditary Bilateral 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
platelet-type bleeding disorder 10  
polycystic kidney disease +   
Polydysspondyly 
polygenic disease +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Premature Aging, Okamoto Type 
primary hypertrophic osteoarthropathy +   
Progeria Short Stature Pigmented Nevi 
Progeroid Facial Appearance with Hand Anomalies 
Progeroid Syndrome, Congenital, Petty Type  
progressive familial intrahepatic cholestasis +   
Pseudotrisomy 13 Syndrome 
PSPH deficiency  
pulmonary alveolar microlithiasis  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Syndrome  
Ramon Syndrome 
RASopathies  
Ray Peterson Scott Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rh deficiency syndrome  
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rozin Hertz Goodman Syndrome 
Ruijs-Aalfs syndrome  
Saal Bulas Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Second Metatarsal-Metacarpal Syndrome 
Seemanova Lesny Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT Syndrome  
Slavotinek Pike Mills Hurst Syndrome 
Sonoda Syndrome 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Stern Lubinsky Durrie Syndrome 
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
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  
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tsukahara Syndrome 
Tukel Syndrome 
Turnpenny-Fry Syndrome  
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Vertical Talus, Congenital  
Viljoen Kallis Voges Syndrome 
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Wellesley Carmen French Syndrome 
Weyers Ulnar Ray/Oligodactyly Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Wittwer Syndrome 
yellow nail syndrome +  
Young Hughes Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: BDE2
Primary IDs: OMIM:613382
Alternate IDs: RDO:0009828
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20015959, https://www.ncbi.nlm.nih.gov/pubmed/20170896

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