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Ontology Browser

Term:
Cerebellar Hypoplasia with Endosteal Sclerosis (DOID:9003813)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (0)
Parent Terms Term With Siblings Child Terms
cerebellar ataxia +     
osteosclerosis +     
3-methylglutaconic aciduria type 5  
ALKURAYA-KUCINSKAS SYNDROME  
ataxia with oculomotor apraxia type 1  
Attention Deficit and Disruptive Behavior Disorders +   
autosomal dominant cerebellar ataxia +   
autosomal dominant endosteal hyperostosis  
autosomal recessive cerebellar ataxia +   
axial osteomalacia 
Axial Osteosclerosis 
BAKER-GORDON SYNDROME  
Benign Cerebellar Ataxia with Thermoanalgesia 
Brachydactyly-Nystagmus-Cerebellar Ataxia 
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 
Camurati-Engelmann disease +   
CAPOS Syndrome  
Cayman type cerebellar ataxia  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Hypogonadotropic Hypogonadism  
Cerebellar Ataxia and Neurosensory Deafness 
Cerebellar Ataxia Ectodermal Dysplasia 
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA  
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME  
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Cerebelloparenchymal Disorder II 
Child Behavior Disorders +   
Childhood Schizophrenia  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
communication disorder +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
craniodiaphyseal dysplasia +   
Craniofacial Dysostosis with Diaphyseal Hyperplasia 
craniometaphyseal dysplasia +   
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
Developmental Disabilities +   
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
Distal Osteosclerosis 
Dysosteosclerosis +   
episodic ataxia type 5  
episodic ataxia type 6  
familial hemiplegic migraine 1  
Forney Robinson Pascoe Syndrome  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
Gillespie Syndrome  
Harding Ataxia 
HAREL-YOON SYNDROME  
Herrmann Syndrome 
Hyperostosis Cranialis Interna  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
ITM2B-related cerebral amyloid angiopathy 2  
JABERI-ELAHI SYNDROME  
Kahn-Kahn-Katsanis Syndrome  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
learning disability +   
Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 
Lopes-Maciel-Rodan Syndrome  
Marinesco-Sjogren syndrome  
melorheostosis +   
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Mixed Sclerosing Bone Dystrophy 
mutism  
Myelocerebellar Disorder  
Myoclonus, Cerebellar Ataxia, and Deafness 
Neuhauser Eichner Opitz Syndrome 
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
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 Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
nonprogressive cerebellar ataxia with mental retardation  
O'DONNELL-LURIA-RODAN SYNDROME  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
osteopathia striata with cranial sclerosis  
osteopetrosis +   
Osteopoikilosis +   
Osteosclerosis with Ichthyosis and Fractures 
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
Pervasive Child Development Disorders +   
PILAROWSKI-BJORNSSON SYNDROME  
Popov-Chang Syndrome  
Pyknoachondrogenesis 
Raine Syndrome  
Reactive Attachment Disorder 
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
separation anxiety disorder  
short-rib thoracic dysplasia 9 with or without polydactyly  
SHUKLA-VERNON SYNDROME  
Skraban-Deardorff Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
STANKIEWICZ-ISIDOR SYNDROME  
stereotypic movement disorder +   
tic disorder +   
Trichohepatoneurodevelopmental Syndrome  
Ventriculomegaly  
Whyte Murphy Syndrome 
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  

Synonyms
Exact Synonyms: ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME
Primary IDs: MESH:C535353
Alternate IDs: OMIM:213002 ;   RDO:0000429

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