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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
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Brown-Sequard syndrome 
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
Cystic Leukoencephalopathy without Megalencephaly  
Demyelinating Autoimmune Diseases, CNS +   
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Fryns Macrocephaly 
Hereditary Central Nervous System Demyelinating Diseases +   
hereditary spastic paraplegia +   
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Krabbe disease +   
Labrune Syndrome  
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, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
Mental Retardation with Spastic Paraplegia 
metachromatic leukodystrophy +   
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy with Demyelinating Disease of CNS 
Posterior Leukoencephalopathy Syndrome  
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy +   
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
retinal vasculopathy with cerebral leukodystrophy  
Ribose 5-Phosphate Isomerase Deficiency  
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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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.