Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
Acro-Osteolysis +   
Acromicric Dysplasia +   
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 
Brugada syndrome +   
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 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
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 +   
ciliopathy +   
clubfoot +   
cocoon syndrome  
COL4A1-related familial vascular leukoencephalopathy  
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 +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
cortical dysplasia-focal epilepsy syndrome  
corticosteroid-binding globulin deficiency  
craniolenticulosutural dysplasia  
cutaneous T cell lymphoma +   
Deafness Conductive Ptosis Skeletal Anomalies 
desquamative interstitial pneumonia  
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
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  
Doughnut Lesions of Skull, Familial 
Doyne honeycomb retinal dystrophy  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
dystonia 12  
dystonia 16  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 27  
dystonia 5  
dystonia 9  
EAST syndrome  
endocrine-cerebro-osteodysplasia syndrome  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
EVEN-PLUS SYNDROME  
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  
fibrodysplasia ossificans progressiva  
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  
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Funnel Chest +   
Genetic Skin Diseases +   
Gigantism +   
Goldberg-Shprintzen syndrome  
Gorham's disease +  
Gracile Bone Dysplasia  
Greig cephalopolysyndactyly syndrome  
Gurrieri Sammito Bellussi Syndrome 
Hall Riggs Mental Retardation Syndrome 
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hereditary neutrophilia  
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 6  
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kantaputra Gorlin Syndrome 
Kartagener syndrome  
karyomegalic interstitial nephritis  
KBG syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kufor-Rakeb syndrome  
Kyphomelic Dysplasia 
lambda 5 deficiency 
Laminopathies  
Leg Length Inequality 
Lennox-Gastaut syndrome  
Lenz Majewski Hyperostotic Dwarfism  
lethal congenital contracture syndrome 1  
lethal congenital contracture syndrome 2  
lethal congenital contracture syndrome 3  
lethal congenital contracture syndrome 4  
lethal restrictive dermopathy  
Lissencephaly Type III and Bone Dysplasia 
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  
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  
Miyoshi muscular dystrophy 1  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Muenke 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  
neurogenic arthrogryposis multiplex congenita +   
Neutropenia, Nonimmune Chronic Idiopathic, Adult  
nevoid basal cell carcinoma syndrome +   
Noonan syndrome 10  
Noonan syndrome 5  
Norman-Roberts syndrome  
osteochondrodysplasia +   
Abnormal development of cartilage and bone.
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Parotidomegaly, Hereditary Bilateral 
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
Peters anomaly +   
Pfeiffer syndrome  
Pitt-Hopkins syndrome +   
platelet-type bleeding disorder 10  
Platybasia +  
poikiloderma with neutropenia  
Pointer Syndrome 
polycystic kidney disease +   
postural orthostatic tachycardia syndrome  
Prenatal Bowing 
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive familial intrahepatic cholestasis +   
Proteus syndrome +   
prune belly 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 
right atrial isomerism  
Ritscher-Schinzel syndrome 1  
Roifman-Chitayat Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Saethre-Chotzen syndrome  
Santos 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  
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 
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-foot malformation +   
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
split hand-foot malformation 6  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
subacute sclerosing panencephalitis +   
tibial muscular dystrophy  
torsion dystonia 17 
torsion dystonia 7  
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
ulnar-mammary syndrome  
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Warsaw breakage syndrome  
Weismann Netter Syndrome 
WHIM 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, disproportionate short-limbed ;   chondrodysplasia
Primary IDs: MESH:D010009
Alternate IDs: OMIA:000187 ;   OMIA:001315 ;   OMIA:001886 ;   OMIM:309350 ;   RDO:0000496
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.