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Ontology Browser

Term:
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (DOID:9006484)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
brain small vessel disease 1  
Brown-Sequard syndrome 
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
combined oxidative phosphorylation deficiency 12  
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Demyelinating Autoimmune Diseases, CNS +   
developmental and epileptic encephalopathy 39  
Dysmyelinating Leukodystrophy with Oligodontia  
Dysmyelination with Jaundice 
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Fryns Macrocephaly 
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
hereditary spastic paraplegia +   
hypomyelinating leukodystrophy +   
hypomyelinating leukoencephalopathy 
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
Krabbe disease +   
Labrune Syndrome  
Leber hereditary optic neuropathy with demyelinating disease of CNS 
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
Mental Retardation with Spastic Paraplegia 
metachromatic leukodystrophy +   
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy with Demyelinating Disease of CNS 
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Posterior Leukoencephalopathy Syndrome  
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy  
retinal vasculopathy with cerebral leukodystrophy  
Ribose 5-Phosphate Isomerase Deficiency  
RNASET2-deficient cystic leukoencephalopathy  
spastic ataxia 3  
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPOAN syndrome  
Telencephalic Leukoencephalopathy 
vascular dementia +   
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: ASPARTYL-tRNA SYNTHETASE DEFICIENCY ;   HBSL
Primary IDs: OMIM:615281 ;   RDO:9000890

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