Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00084 (Tree)
Name	Metachromatic leukodystrophy, due to saposin B deficiency
Aliases	Sphingolipid activator protein 1 deficiency
Disease name:　Preferred Term	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
Disease name:　Synonyms (from OMIM and MeSH)	SAPOSIN B DEFICIENCY METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY
UMLS CUI	C0268262
UMLS SAB	MeSH (SCR)
UMLS CODE	C562609
OMIM DATA:　Gene	PSAP
OMIM DATA:　Gene Number	176801
OMIM DATA:　Phenotype Number	249900
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 Dementia Demyelinating Diseases Developmental Disabilities Dyskinesias Gait Disorders, Neurologic 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 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	61