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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
Acro-Osteolysis +   
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 
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Angel Shaped Phalangoepiphyseal Dysplasia 
Aquaporin 1 Deficiency  
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
Au-Kline Syndrome  
autoimmune lymphoproliferative syndrome +   
Baby Rattle Pelvis Dysplasia 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome  
Blount's disease 
Bone Dysplasia, Lethal, Holmgren Type 
Brachioskeletogenital Syndrome  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
Brachymesomelia Renal Syndrome 
Brittle Bone Disorder 
CADASIL +   
CAKUT2  
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss 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  
Cenani-Lenz syndactyly syndrome  
Cervical Vertebral Dysplasia 
CHARGE syndrome  
cherubism +   
CHOPS SYNDROME  
chromosomal disease +   
clubfoot +   
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 +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
craniolenticulosutural dysplasia  
Deafness Conductive Ptosis Skeletal Anomalies 
desquamative interstitial pneumonia  
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
Doughnut Lesions of Skull, Familial  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
EVEN-PLUS SYNDROME  
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Funnel Chest +   
Genetic Skin Diseases +   
Gigantism +   
Gorham's disease +  
Gracile Bone Dysplasia  
Gurrieri Sammito Bellussi Syndrome 
Hall Riggs Mental Retardation Syndrome 
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hyperimmunoglobulin syndrome +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
inherited blood coagulation disease +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kantaputra Gorlin Syndrome 
Kartagener syndrome  
KBG syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
Laminopathies  
Leg Length Inequality 
Lennox-Gastaut syndrome  
Lenz Majewski Hyperostotic Dwarfism  
Lissencephaly Type III and Bone Dysplasia 
Macroepiphyseal Dysplasia, McAlister Coe Type 
Marfan syndrome +   
Marshall-Smith syndrome  
Membranous Cranial Ossification, Delayed 
Mesomelic Dysplasia, Camera Type 
Mesomelic Limb Shortening and Bowing 
Miura type epiphyseal chondrodysplasia  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
nevoid basal cell carcinoma syndrome +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Abnormal development of cartilage and bone.
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Parotidomegaly, Hereditary Bilateral 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
platelet-type bleeding disorder 10  
Platybasia +  
Pointer Syndrome 
polycystic kidney disease +   
polygenic disease +   
Prenatal Bowing 
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Proteus syndrome +   
pulmonary alveolar microlithiasis  
Radius Absent Anogenital Anomalies 
RASopathies  
Rh deficiency syndrome  
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Roifman-Chitayat Syndrome 
Sacral Agenesis with Vertebral Anomalies  
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  
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 
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Weismann Netter Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
yellow nail syndrome +  
 achondrogenesis +   
 achondroplasia +   
 acrodysostosis +   
 brachyolmia +   
 Caffey disease +   
 omodysplasia +   
 Osteochondroma +   
 osteosclerosis +   

Synonyms
Exact Synonyms: Congenital anomaly of cartilage ;   Dyschondroplasia ;   Dyschondroplasias ;   Late Onset Spondyloepiphyseal Dysplasia ;   Late Spondyloepiphyseal Dysplasia ;   MNS ;   Melnick Needles Osteodysplasty ;   Melnick Needles Syndrome ;   Multiple Epiphyseal Dysplasia ;   Myotonic Chondrodystrophy ;   Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities ;   Osteochondrodysplasia syndrome ;   Osteodysplasty of Melnick and Needles ;   SJA Syndrome ;   Sost Sclerosing Bone Dysplasia ;   Spondylo-Epimetaphyseal Dysplasia With Myotonia ;   cartilage development disorder ;   chondrodystrophic myotonia ;   chondrodystrophy ;   osteochondrodysplasias ;   spondyloepiphyseal dysplasia
Narrow Synonyms: chondrodysplasia ;   chondrodysplasia, disproportionate short-limbed
Broad Synonyms: TRIP11-related condition
Primary IDs: MESH:D010009
Alternate IDs: OMIA:000187 ;   OMIA:001315 ;   OMIA:001886 ;   OMIM:184260 ;   RDO:0000496
Xrefs: NCI:C34466 ;   NCI:C84978
Definition Sources: MESH:D010009, http://en.wikipedia.org/wiki/Osteochondrodysplasia, http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx

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