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

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
Akaba Hayasaka Syndrome 
Amniotic Band Syndrome +  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
arthritis +   
arthropathy +   
asphyxia neonatorum +   
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Auriculoosteodysplasia 
benign neonatal seizures +   
Birth Injuries +   
Blount's disease 
Boomerang dysplasia  
brachyolmia +   
Caffey disease +   
A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)
Calvarial Hyperostosis 
campomelic dysplasia +   
Camurati-Engelmann disease +   
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
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 
CODAS syndrome  
Colic 
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Congenital Hyperinsulinism +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital nystagmus +   
congenital syphilis +  
congenital toxoplasmosis 
Cutis Laxa-Marfanoid Syndrome 
cystic fibrosis +   
Czech Dysplasia, Metatarsal Type  
Desbuquois dysplasia +   
diastrophic dysplasia +   
diffuse idiopathic skeletal hyperostosis +   
Dyschondrosteosis and Nephritis 
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
epicondylitis 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
exostosis +   
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
fetal erythroblastosis +   
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Ghosal Hematodiaphyseal Dysplasia  
Greenberg Dysplasia  
Hip Dysplasia, Beukes Type  
hydrophthalmos +   
Hyperglycinemia, Transient Neonatal 
Hyperostosis Cranialis Interna  
Hyperostosis Frontalis Interna +  
Hyperparathyroidism, Neonatal Severe Primary  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
ichthyosis +   
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Infantile Hypercalcemia +   
Jequier Kozlowski Skeletal Dysplasia 
Kashin-Beck Disease  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
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  
Madelung Deformity 
Maffucci syndrome 
Marshall Syndrome +   
meconium aspiration syndrome  
Meconium Ileus  
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 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 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Mobius syndrome +   
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
neonatal abstinence syndrome 
Neonatal Alloimmune Thrombocytopenia  
neonatal anemia +   
neonatal diabetes mellitus +   
Neonatal Hyperbilirubinemia +   
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
Neonatal Inflammatory Skin and Bowel Disease +   
Neonatal Pulmonary Hypertension  
Neonatal Sepsis  
Nievergelt Syndrome 
Ollier disease  
omodysplasia +   
ophthalmia neonatorum 
Opsismodysplasia  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osgood-Schlatter's disease 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
Osteoglophonic Dwarfism  
osteomyelitis +   
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Paget's disease of bone +   
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
persistent fetal circulation syndrome  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Polyosteolysis-Hyperostosis Syndrome 
Posttransfusion Purpura  
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Infant Diseases +   
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pubic Bone Dysplasia 
pycnodysostosis  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Roifman Syndrome  
Rothmund-Thomson syndrome +   
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Schwartz-Lelek Syndrome  
Sclerema Neonatorum 
sclerosteosis +   
secondary hypertrophic osteoarthropathy  
severe combined immunodeficiency +   
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 
SOST-related sclerosing bone dysplasia  
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
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, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Maroteaux 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 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 
Sternocostoclavicular Hyperostosis 
Stuve-Wiedemann Syndrome  
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Tracheobronchopathia Osteoplastica 
transient neonatal thrombocytopenia 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
umbilical hernia +   
Upington Disease 
Verloes Van Maldergem Marneffe Syndrome 
vitamin K deficiency bleeding  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weissenbacher-Zweymuller syndrome +   
Wolcott-Rallison syndrome  
Wolman disease +   
Worth's syndrome  

Synonyms
Exact Synonyms: Caffey De Toni Silvermann Syndrome ;   Congenital Cortical Hyperostoses ;   Familial Caffey Disease ;   Familial Caffey's Disease ;   Familial Caffeys Disease ;   Familial Infantile Cortical Hyperostosis ;   Infantile Cortical Hyperostoses ;   Infantile Cortical Hyperostosis ;   cortical congenital hyperostosis
Primary IDs: MESH:D006958 ;   RDO:0002425
Alternate IDs: OMIM:114000
Xrefs: GARD:1051 ;   NCI:C118423 ;   NCI:C84645
Definition Sources: MESH:D006958, http://emedicine.medscape.com/article/406697-overview, http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis, http://www.medcyclopaedia.com/library/topics/volume_iii_1/c/caffeys_disease.aspx

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.