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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Acro-Osteolysis +   
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Angel Shaped Phalangoepiphyseal Dysplasia 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
articular cartilage disease +   
autosomal recessive cutis laxa type IC  
Baby Rattle Pelvis Dysplasia 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome +   
Blount's disease 
BOUDIN-MORTIER SYNDROME  
Brachymesomelia Renal Syndrome 
Brittle Bone Disorder 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
cartilage cancer 
Cervical Vertebral Dysplasia 
CHOPS Syndrome  
clubfoot +   
Conductive Deafness with Ptosis and Skeletal Anomalies 
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
craniolenticulosutural dysplasia  
developmental dysplasia of the hip +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
discitis 
Disproportionate Tall Stature  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Elsahy-Waters syndrome  
EVEN-PLUS SYNDROME  
Fibrocartilaginous Embolism 
Fountain Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Gigantism +   
Gorham's disease +   
Gracile Bone Dysplasia  
Gurrieri Sammito Bellussi Syndrome 
Hall-Riggs Mental Retardation Syndrome 
HYPOPLASTIC FEMURS AND PELVIS  
KBG syndrome  
Keutel Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia  
laryngomalacia +   
Leg Length Inequality 
Lenz-Majewski hyperostotic dwarfism  
Lethal Bone Dysplasia, Holmgren Type 
Lissencephaly Type III and Bone Dysplasia 
Macroepiphyseal Dysplasia, McAlister Coe Type 
mandibuloacral dysplasia +   
Marfan syndrome +   
Marshall-Smith syndrome  
Membranous Cranial Ossification, Delayed 
Mesomelic Limb Shortening and Bowing 
MICROMELIA  
Miura type epiphyseal chondrodysplasia  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
nevoid basal cell carcinoma syndrome +   
Osteochondritis +   
osteochondrodysplasia +   
A bone development disease that results_in defective development of cartilage or bone. (DO)
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES  
Platybasia +  
Pointer Syndrome 
Prenatal Bowing 
Proteus syndrome +   
Radius Absent Anogenital Anomalies 
Rhizomelic Dysplasia Patterson Lowry Type 
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Roifman-Chitayat Syndrome  
Santos Syndrome  
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHOX-related short stature  
Shwachman-Diamond Syndrome 2  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal  
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 
split hand-foot malformation +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
Tietze's syndrome  
Tracheobronchomalacia +   
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
vitamin D-dependent rickets +   
Weismann Netter Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
 acheiropody  
 achondrogenesis +   
 achondroplasia +   
 acrocapitofemoral dysplasia  
 acrodysostosis +   
 Acrodysplasia Scoliosis 
 Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
 acromesomelic dysplasia +   
 acromicric dysplasia +   
 Akaba Hayasaka Syndrome 
 asphyxiating thoracic dystrophy +   
 atelosteogenesis +   
 Auriculoosteodysplasia 
 Beukes hip dysplasia  
 Blount's disease 
 Boomerang dysplasia  
 brachyolmia +   
 Caffey disease +   
 calvarial doughnut lesions with bone fragility  
 campomelic dysplasia +   
 Camurati-Engelmann disease +   
 Cartilage Hair Hypoplasia Like Syndrome 
 cartilage-hair hypoplasia  
 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
 chondrodysplasia Blomstrand type  
 Chondrodysplasia Calcificans Metaphysealis 
 chondrodysplasia punctata +   
 chondrodysplasia with joint dislocations gPAPP type  
 chondrodysplasia-pseudohermaphroditism syndrome  
 cleidocranial dysplasia +   
 Cleidocranial Dysplasia 2  
 Cleidorhizomelic Syndrome 
 Cloverleaf Skull Micromelia Thoracic Dysplasia 
 CODAS syndrome  
 Collagenopathy, Type 2 Alpha 1 
 Coloboma of Alar-Nasal Cartilages with Telecanthus 
 Congenital Micromelic Dysplasia with Dislocation of Radius +   
 Czech Dysplasia, Metatarsal Type  
 Desbuquois dysplasia +   
 diaphyseal medullary stenosis with malignant fibrous histiocytoma  
 diastrophic dysplasia +   
 Dyschondrosteosis and Nephritis 
 Ehlers-Danlos syndrome spondylodysplastic type 3  
 Eiken syndrome  
 Ellis-Van Creveld syndrome +   
 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
 Epiphyseal Dysplasia, Baumann Type 
 Fairbank Disease 
 Familial Osteodysplasia, Anderson Type 
 Faye-Petersen Ward Carey Syndrome 
 fibrochondrogenesis +   
 Fibrous Dysplasia of Bone +   
 Fraser Jequier Chen Syndrome 
 Frontootopalatodigital Osteodysplasia 
 Ghosal hematodiaphyseal syndrome  
 Greenberg dysplasia  
 Hyperostosis Frontalis Interna 
 hypertrichotic osteochondrodysplasia Cantu type  
 hypochondrogenesis  
 hypochondroplasia  
 hypomyelinating leukodystrophy 26  
 hypoparathyroidism-retardation-dysmorphism syndrome  
 IMAGe syndrome  
 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
 Jequier Kozlowski Skeletal Dysplasia 
 Kashin-Beck Disease  
 Kniest dysplasia  
 Kozlowski Tsuruta Taki Syndrome 
 Laplane Fontaine Lagardere Syndrome 
 Larsen Syndromes +   
 Leri-Weill dyschondrosteosis  
 Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
 Lowry Wood Syndrome  
 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
 Madelung Deformity 
 Maffucci syndrome  
 Marshall syndrome +   
 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
 Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
 Mesomelic Dysplasia +   
 Metaphyseal Anadysplasia +   
 Metaphyseal Chondrodysplasia +   
 metaphyseal dysplasia +   
 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
 Metatropic Dwarfism, Type II 
 Microcephalic Osteodysplastic Primordial Dwarfism +   
 microcephaly, short stature, and limb abnormalities  
 microcephaly-micromelia syndrome  
 Micromelic Dwarfism Fryns Type 
 midface dysplasia 
 Miura type epiphyseal chondrodysplasia  
 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
 multiple epiphyseal dysplasia +   
 Ollier disease  
 omodysplasia +   
 Opsismodysplasia  
 Osebold Skeletal Dysplasia Osteolysis Syndrome 
 Osteoarthritis with Mild Chondrodysplasia  
 OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS  
 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
 Osteochondroma +   
 osteogenesis imperfecta +   
 osteoglophonic dysplasia  
 otopalatodigital syndrome spectrum disorder +   
 otospondylomegaepiphyseal dysplasia, autosomal recessive  
 parastremmatic dwarfism  
 Pelvis-Shoulder Dysplasia 
 Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
 Polydysspondyly 
 Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
 progressive pseudorheumatoid arthropathy of childhood  
 pseudoachondroplasia  
 Pubic Bone Dysplasia 
 pycnodysostosis  
 Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
 Roifman Syndrome  
 SAPHO syndrome  
 Saul-Wilson syndrome  
 Schaefer Stein Oshman Syndrome 
 schneckenbecken dysplasia  
 Schwartz-Jampel syndrome 1  
 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 
 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
 spondyloepimetaphyseal dysplasia +   
 spondyloepiphyseal dysplasia +   
 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
 spondylometaphyseal dysplasia +   
 Spondyloocular Syndrome, Autosomal Recessive  
 spondyloperipheral dysplasia  
 Spondylospinal Thoracic Dysostosis 
 Stuve-Wiedemann Syndrome +   
 Teebi Naguib Al Awadi syndrome 
 terminal osseous dysplasia  
 thanatophoric dysplasia +   
 Thoracolaryngopelvic Dysplasia 
 Tracheobronchopathia Osteoplastica 
 Trichorhinophalangeal Syndrome +   
 Trichoscyphodysplasia 
 Ulna Metaphyseal Dysplasia Syndrome 
 Upington Disease 
 Verloes Van Maldergem Marneffe Syndrome 
 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
 Weissenbacher-Zweymuller syndrome +   
 Wolcott-Rallison syndrome  

Synonyms
Exact Synonyms: SJA syndrome ;   SOST sclerosing bone dysplasia ;   cartilage development disorder ;   chondrodystrophic myotonia ;   chondrodystrophy ;   congenital anomaly of cartilage ;   late onset spondyloepiphyseal dysplasia ;   late spondyloepiphyseal dysplasia ;   myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities ;   osteochondrodysplasia syndrome
Narrow Synonyms: chondrodysplasia ;   chondrodysplasia, disproportionate short-limbed
Broad Synonyms: TRIP11-related condition ;   TRIP11-related skeletal dysplasia
Xrefs: EFO:0005571 ;   GARD:6051 ;   ICD10CM:Q78.9 ;   ICD9CM:756.4 ;   MESH:D010009 ;   MONDO:0005516 ;   NCI:C34466 ;   NCI:C84978 ;   OMIA:000187 ;   OMIA:001315
Definition Sources: http://en.wikipedia.org/wiki/Osteochondrodysplasia "DO" "DO"

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