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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
adult onset demyelinating leukodystrophy +   
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Alexander disease  
CADASIL +   
Canavan disease  
Childhood-Onset Remitting Leukodystrophy  
developmental and epileptic encephalopathy 39  
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
hypomyelinating leukodystrophy +   
A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO)
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Krabbe disease +   
Leber hereditary optic neuropathy with demyelinating disease of CNS 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
leukoencephalopathy with vanishing white matter +   
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
metachromatic leukodystrophy +   
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY  
Optic Atrophy with Demyelinating Disease of CNS 
Progressive Leukodystrophy, Early Childhood-Onset  
progressive leukoencephalopathy with ovarian failure  
retinal dystrophy with leukodystrophy  
retinal vasculopathy with cerebral leukodystrophy  
RNASET2-deficient cystic leukoencephalopathy  
spastic ataxia 8  

Synonyms
Exact Synonyms: HLD
Xrefs: MIM:PS312080
Definition Sources: PMID:24916848 "DO" "DO", PMID:25649058 "DO" "DO", PMID:27234264 "DO" "DO"

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