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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Dwarfism +     
3-M syndrome +   
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
acheiropody  
achondrogenesis +   
achondroplasia +   
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. (DO)
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
Akaba Hayasaka Syndrome 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alopecia Contractures Dwarfism Mental Retardation 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Anauxetic Dysplasia +   
asphyxiating thoracic dystrophy +   
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
atelosteogenesis +   
Atelosteogenesis Type 3  
Auriculoosteodysplasia 
Bangstad Syndrome 
Beukes hip dysplasia  
Bird Headed Dwarfism Montreal Type 
Blount's disease 
Boomerang dysplasia  
Brachydactylous Dwarfism Mseleni Type 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia +   
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Caffey disease +   
calvarial doughnut lesions with bone fragility  
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cantu Sanchez-Corona Fragoso Syndrome 
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 with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Cockayne syndrome +   
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
congenital hypothyroidism +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Czech Dysplasia, Metatarsal Type  
De Sanctis-Cacchione Syndrome  
Desbuquois dysplasia +   
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diastrophic dysplasia +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyschondrosteosis and Nephritis 
Dyssegmental Dysplasia with Glaucoma 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
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 
geroderma osteodysplasticum  
Ghosal Hematodiaphyseal Dysplasia  
Greenberg dysplasia  
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hyperostosis Frontalis Interna +  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
IMAGe syndrome  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
intellectual developmental disorder with short stature and behavioral abnormalities  
isolated growth hormone deficiency +   
Jequier Kozlowski Skeletal Dysplasia 
Juberg Hayward Syndrome  
Kashin-Beck Disease  
Kenny-Caffey syndrome type 2  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen Syndromes +   
Leri-Weill dyschondrosteosis  
Lessel-Kubisch Syndrome  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Loucks-Innes Syndrome  
Lowry Wood Syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
Marshall syndrome +   
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Mollica Pavone Antener Syndrome 
mulibrey nanism  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Nievergelt Syndrome 
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
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  
Proportionate Dwarfism, with Hip Dislocation 
pseudoachondroplasia  
Pseudodiastrophic Dysplasia 
Pubic Bone Dysplasia 
pycnodysostosis  
rapadilino syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Robinow syndrome +   
Roifman Syndrome  
Rommen Mueller Sybert Syndrome 
Ruvalcaba Syndrome 
SAPHO syndrome  
Saul-Wilson syndrome  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slipped Capital Femoral Epiphyses 
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepiphyseal dysplasia Maroteaux type  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia Tarda, Toledo 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, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type  
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 Corneal 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, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stuve-Wiedemann Syndrome  
Synovial Chondromatosis, Familial, with Dwarfism 
Teebi Naguib Al Awadi syndrome 
terminal osseous dysplasia  
thanatophoric dysplasia +   
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Tryptophanuria with Dwarfism 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weill-Marchesani syndrome +   
Weissenbacher-Zweymuller syndrome +   
Wolcott-Rallison syndrome  
Worth syndrome  

Synonyms
Exact Synonyms: ACH ;   Achondroplasias ;   Skeleton Skin Brain Syndrome ;   Skeleton-Skin-Brain Syndromes ;   achondroplastic physique ;   chondrodystrophia ;   osteosclerosis congenita
Primary IDs: MESH:D000130
Alternate IDs: OMIM:100800
Xrefs: GARD:8173 ;   ICD10CM:Q77.4 ;   NCI:C34345 ;   ORDO:15
Definition Sources: http://en.wikipedia.org/wiki/Achondroplasia "DO", http://ghr.nlm.nih.gov/condition/achondroplasia "DO", http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm "DO"

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