Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00080 (Tree)
Name	Metachromatic leukodystrophy
Disease name:　INCLUDED	METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED
Disease name:　Preferred Term	METACHROMATIC LEUKODYSTROPHY
Disease name:　Synonyms (from OMIM and MeSH)	CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM METACHROMATIC LEUKOENCEPHALOPATHY ARSA DEFICIENCY SULFATIDE LIPIDOSIS CEREBROSIDE SULFATASE DEFICIENCY ARYLSULFATASE A DEFICIENCY MLD
UMLS CUI	C0023522
UMLS SAB	MeSH
UMLS CODE	D007966
OMIM DATA:　Gene	ARSA
OMIM DATA:　Gene Number	607574
OMIM DATA:　Phenotype Number	250100
Symptoms, signs and abnormal clinical and laboratory findings	Ataxia Behavior Behavioral Symptoms Blindness (Vision loss) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Child Behavior Disorders Communication Disorders Delusions Dementia Demyelinating Diseases Developmental Disabilities Dyskinesias Feeding and Eating Disorders of Childhood Gait Disorders, Neurologic Hallucinations Hearing Disorders Hearing Loss (Hearing impairment) Hereditary Central Nervous System Demyelinating Diseases Hypesthesia (Numbness) Intellectual Disability (Mental Retardation) Language Disorders Learning Disorders Lower Urinary Tract Symptoms Mental Disorders Diagnosed in Childhood Mobility Limitation Motor Skills Disorders Movement Disorders Muscle Hypertonia Muscle Rigidity Muscle Spasticity Muscle Weakness Muscular Atrophy (Muscle wasting) Muscular Diseases Neurobehavioral Manifestations Neurologic Manifestations Neuromuscular Diseases Neuromuscular Manifestations Paralysis Paraparesis Paraparesis, Spastic Perceptual Disorders Peripheral Nervous System Diseases Retinal Degeneration Retinal Diseases Seizures Signs and Symptoms Somatosensory Disorders Speech Disorders Urinary Incontinence Vision Disorders Epilepsy
References	Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB (ID) Link to the Glyco-Disease Genes Database	60