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Term:
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness (DOID:9007231)
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Parent Terms Term With Siblings Child Terms
calcinosis +     
Hearing Loss +     
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
Acropectorovertebral Dysplasia 
Akaba Hayasaka Syndrome 
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Aortic Valve, Calcification of  
asphyxiating thoracic dystrophy +   
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS  
atelosteogenesis +   
Auriculoosteodysplasia 
Baraitser Brett Piesowicz Syndrome 
basal ganglia calcification +   
Behr Syndrome  
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 
Blount's disease 
Boomerang dysplasia  
brachyolmia +   
Branchial Arch Syndrome X-Linked 
Caffey disease +   
Calcific Aortic Disease with Immunologic Abnormalities, Familial 
Calcification of Joints and Arteries +   
calciphylaxis 
campomelic dysplasia +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camurati-Engelmann disease +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
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  
Choroid Plexus Calcification with Mental Retardation 
chromosome 6pter-p24 deletion syndrome 
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS Syndrome  
Cole Disease  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Conductive Hearing Loss +   
Cone-Rod Dystrophy and Hearing Loss +   
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
CREST syndrome  
Czech Dysplasia, Metatarsal Type  
Deafness +   
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness, Unilateral, with Delayed Endolymphatic Hydrops  
Deafness-Craniofacial Syndrome 
Desbuquois dysplasia +   
diastrophic dysplasia  
diffuse idiopathic skeletal hyperostosis +   
Dyschondrosteosis and Nephritis 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Fairbank Disease 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Faye-Petersen Ward Carey Syndrome 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Functional Hearing Loss 
Ghosal Hematodiaphyseal Dysplasia  
Greenberg Dysplasia  
Hearing Loss, Bilateral +   
Hearing Loss, Mixed Conductive-Sensorineural +  
Hearing Loss, Unilateral +   
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
High-Frequency Hearing Loss  
Hip Dysplasia, Beukes Type  
Hyperostosis Frontalis Interna +  
hyperphosphatemic familial tumoral calcinosis +   
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Jequier Kozlowski Skeletal Dysplasia 
Kashin-Beck Disease  
Keutel Syndrome  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
LADD syndrome  
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy Brain Calcifications and Cysts  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Lowry Wood Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
Marshall Syndrome +   
Medial Coronary Sclerosis of Infancy 
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, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microtia, Hearing Impairment, and Cleft Palate  
midface dysplasia 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Miura type epiphyseal chondrodysplasia  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
nephrocalcinosis +   
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Nievergelt Syndrome 
normophosphatemic familial tumoral calcinosis  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Ossified Ear Cartilages 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
Osteoglophonic Dwarfism  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Pelvis-Shoulder Dysplasia 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Piepkorn Karp Hickok syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Primrose Syndrome  
progressive pseudorheumatoid arthropathy of childhood  
Pseudo-TORCH Syndrome +   
pseudoachondroplasia  
Pubic Bone Dysplasia 
pulmonary alveolar microlithiasis  
pycnodysostosis  
Rajab Syndrome  
Rambaud Galian Syndrome 
Reardon Wilson Cavanagh Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Roifman Syndrome  
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schofer Beetz Bohl Syndrome 
Schwartz-Jampel syndrome 1  
Sclerosing Osteomalacia with Cerebral Calcification 
sensorineural hearing loss +   
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
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  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
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, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
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 
Storm Syndrome 
Stuve-Wiedemann Syndrome  
syndromic X-linked intellectual disability Abidi type 
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Tropical Calcific Pancreatitis  
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation  
Vascular Calcification +   
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weissenbacher-Zweymuller syndrome +   
Whyte Murphy Fallon Sly syndrome 
Wolcott-Rallison syndrome  
Worth's syndrome  

Synonyms
Primary IDs: MESH:C566507 ;   RDO:0014841

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