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Ontology Browser

Term:
otospondylomegaepiphyseal dysplasia (DOID:0080026)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
3-M syndrome +   
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acrootoocular Syndrome 
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 1  
Anauxetic Dysplasia 2  
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia, Deafness, and Cardiomyopathy 
atelosteogenesis +   
Atelosteogenesis Type 3  
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
Auriculoosteodysplasia 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
BADS syndrome 
Bangstad Syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Beukes hip dysplasia  
Bird Headed Dwarfism Montreal Type 
Bjornstad syndrome  
Blount's disease 
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Brachydactylous Dwarfism Mseleni Type 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia +   
Brown-Vialetto-Van Laere syndrome +   
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Caffey disease +   
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cantu Sanchez-Corona Fragoso Syndrome 
CAPOS Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chitty Hall Baraitser Syndrome 
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  
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Pituitary Hormone Deficiency, 3  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
congenital hypothyroidism +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
craniofacial-deafness-hand syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Czech Dysplasia, Metatarsal Type  
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
Desbuquois dysplasia +   
diastrophic dysplasia +   
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
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 
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Ermine Phenotype 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Fraser Jequier Chen Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
geroderma osteodysplasticum  
Ghosal Hematodiaphyseal Dysplasia  
Gonadal Dysgenesis, XX Type, with Deafness +   
Greenberg Dysplasia  
Griscelli syndrome +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
HID Syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hyperostosis Frontalis Interna +  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Insulin-Like Growth Factor I Deficiency  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
isolated growth hormone deficiency +   
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard 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  
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 with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
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 +   
MYH-9 related disease +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Nievergelt Syndrome 
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (DO)
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Parastremmatic Dwarfism  
Pelvis-Shoulder Dysplasia 
Pendred syndrome  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
progressive pseudorheumatoid arthropathy of childhood  
Proportionate Dwarfism, with Hip Dislocation 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pseudoachondroplasia  
Pseudodiastrophic Dysplasia 
Pubic Bone Dysplasia 
pycnodysostosis  
rapadilino syndrome  
Retinitis Pigmentosa Inversa with Deafness 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman Syndrome  
Rommen Mueller Sybert Syndrome 
Ruvalcaba Syndrome 
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Schaap Taylor Baraitser 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  
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
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, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
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 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slipped Capital Femoral Epiphyses 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spinal Dysplasia, Anhalt Type 
split hand-foot malformation 1 with sensorineural hearing loss  
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 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, 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 
Stuve-Wiedemann Syndrome  
Sudden Hearing Loss  
Synovial Chondromatosis, Familial, with Dwarfism 
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
thiamine-responsive megaloblastic anemia syndrome  
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Townes-Brocks syndrome +   
Tracheobronchopathia Osteoplastica 
Treft Sanborn Carey Syndrome 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Tryptophanuria with Dwarfism 
Tunglang Savage Bellman Syndrome 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel syndrome  
Weill-Marchesani syndrome +   
Weill-Marchesani-Like Syndrome  
Weissenbacher-Zweymuller syndrome +   
Wolcott-Rallison syndrome  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
Worth's syndrome  
X-linked nonsyndromic deafness +   

Synonyms
Exact Synonyms: Insley-Astley syndrome ;   Megaepiphyseal Dwarfism ;   NANCE-INSLEY SYNDROME ;   NANCE-SWEENEY CHONDRODYSPLASIA ;   OSMED ;   OSMEDB ;   Oto-Spondylo-Mega-Epiphyseal Dysplasia ;   chondrodystrophy with sensorineural deafness ;   mega-epiphyseal dwarfism ;   oto-spondylo-megaepiphyseal dysplasia
Related Synonyms: WZS, formerly ;   Weissenbacher-Zweymuller syndrome, formerly
Primary IDs: MESH:C536140
Alternate IDs: OMIM:215150 ;   RDO:0001593 ;   RDO:0008250
Xrefs: OMIM:PS184840
Definition Sources: http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, http://www.ncbi.nlm.nih.gov/omim/215150

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