Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Eiken Skeletal Dysplasia (DOID:9000485)
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  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
acromesomelic dysplasia +   
Acrootoocular Syndrome 
Acropectorovertebral Dysplasia 
acrorenal syndrome +  
Akaba Hayasaka Syndrome 
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Auriculoosteodysplasia 
Banki Syndrome 
Blount's disease 
Boomerang dysplasia  
brachydactyly type E1  
brachydactyly type E2  
brachyolmia +   
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Caffey disease +   
campomelic dysplasia +   
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  
Camurati-Engelmann disease +   
CAPOS Syndrome  
Carnevale Hernandez Castillo Syndrome 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
Charcot-Marie-Tooth Disease, Foot Deformity of 
Chitayat Meunier Hodgkinson Syndrome 
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS Syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
Czech Dysplasia, Metatarsal Type  
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Desbuquois dysplasia +   
diastrophic dysplasia  
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Distal Symphalangism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dyschondrosteosis and Nephritis 
Dystelephalangy 
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  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Fraser Jequier Chen Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Ghosal Hematodiaphyseal Dysplasia  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goodman Camptodactyly 
Gordon Syndrome  
Greenberg Dysplasia  
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 
Hip Dysplasia, Beukes Type  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrolethalus syndrome +   
Hyperostosis Frontalis Interna +  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Jackson-Weiss Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johnson Munson Syndrome 
Kashin-Beck Disease  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Laurin-Sandrow Syndrome  
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Lowry Wood Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Madelung Deformity 
Maffucci syndrome 
Mammary-Digital-Nail Syndrome 
Marshall Syndrome +   
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatarsus Varus, Type I 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly with Mental Retardation and Digital Anomalies  
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Neurofaciodigitorenal Syndrome 
Nicolaides Baraitser Syndrome  
Nievergelt Syndrome 
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Oroacral Syndrome, Verloes-Koulischer Type 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
Osteoglophonic Dwarfism  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Tietze Welte Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Progeroid Facial Appearance with Hand Anomalies 
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pseudotrisomy 13 Syndrome 
Pubic Bone Dysplasia 
pycnodysostosis  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Ray Peterson Scott Syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Roifman Syndrome  
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Field Coldwell syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Second Metatarsal-Metacarpal Syndrome 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slipped Capital Femoral Epiphyses 
Spinal Dysplasia, Anhalt Type 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocamptodactyly 
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stoll Alembik Dott Syndrome 
Stuve-Wiedemann Syndrome  
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 Naguib Al Awadi syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Tollner Horst Manzke Syndrome 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tukel Syndrome 
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Upington Disease 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verloes Van Maldergem Marneffe Syndrome 
Vertical Talus, Congenital  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel Syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weissenbacher-Zweymuller syndrome +   
Weyers Ulnar Ray/Oligodactyly Syndrome 
Wolcott-Rallison syndrome  
Worth's syndrome  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: Bone Modeling Defect of Hands and Feet ;   EIKEN SYNDROME
Primary IDs: MESH:C564010 ;   RDO:0013112
Alternate IDs: OMIM:600002

paths to the root

NHLBI Logo

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