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Ontology Browser

Term:
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (DOID:9000003)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Muscle Hypotonia +     
osteosclerosis +     
3-M syndrome +   
3MC syndrome 3  
Abuse Dwarfism Syndrome 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
AL-RAQAD SYNDROME  
ALAZAMI-YUAN SYNDROME  
Allan-Herndon-Dudley syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
axial osteomalacia 
Axial Osteosclerosis 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Birk-Barel syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Camurati-Engelmann disease +   
Carnitine Acetyltransferase Deficiency  
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cohen Syndrome  
Combined Oxidative Phosphorylation Deficiency 3  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Dysostosis with Diaphyseal Hyperplasia 
craniometaphyseal dysplasia +   
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Distal Osteosclerosis 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysosteosclerosis +   
Emanuel Syndrome 
Ethanolaminosis 
FG syndrome  
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
fumarase deficiency  
German Syndrome 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
hypermethioninemia due to adenosine kinase deficiency  
Hyperostosis Cranialis Interna  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Infantile Hypotonia with Psychomotor Retardation +   
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Ketoadipicaciduria 
Lamb-Shaffer Syndrome  
Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
melorheostosis +   
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mixed Sclerosing Bone Dystrophy 
multiple congenital anomalies-hypotonia-seizures syndrome +   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
osteopathia striata with cranial sclerosis  
osteopetrosis +   
Osteopoikilosis +   
Osteosclerosis with Ichthyosis and Fractures 
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
A rare condition characterized by developmental delay, hypotonia, and distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. (OMIM)
Partington Anderson Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Pierpont syndrome  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Pseudo-TORCH Syndrome +   
Pyknoachondrogenesis 
Qazi Markouizos syndrome 
Raine Syndrome  
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
Roifman-Chitayat Syndrome 
Scalp Ear Nipple Syndrome  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
Whyte Murphy Syndrome 

Synonyms
Exact Synonyms: OSMD
Primary IDs: OMIM:615198

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