Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00058 (Tree)
Name	Sandhoff disease
Aliases	GM2-gangliosidosis, type II
Disease name:　INCLUDED	SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED SANDHOFF DISEASE, ADULT TYPE, INCLUDED
Disease name:　Preferred Term	SANDHOFF DISEASE
Disease name:　Synonyms (from OMIM and MeSH)	HEXOSAMINIDASES A AND B DEFICIENCY GM2-GANGLIOSIDOSIS, TYPE II
UMLS CUI	C0036161
UMLS SAB	MeSH
UMLS CODE	D012497
OMIM DATA:　Gene	HEXB
OMIM DATA:　Gene Number	606873
OMIM DATA:　Phenotype Number	268800
Symptoms, signs and abnormal clinical and laboratory findings	Ataxia Blindness (Vision loss) Bone Diseases, Developmental Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Demyelinating Diseases Developmental Disabilities Dyskinesias Dysostoses (Dysostosis multiplex) Hearing Disorders Hearing Loss (Hearing impairment) Hepatomegaly Hereditary Central Nervous System Demyelinating Diseases Intellectual Disability (Mental Retardation) Language Disorders Liver Diseases Lymphatic Diseases Mental Disorders Mental Disorders Diagnosed in Childhood Mobility Limitation Motor Skills Disorders Movement Disorders Muscle Weakness Muscular Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Neurobehavioral Manifestations Neurologic Manifestations Neuromuscular Manifestations Paralysis Retinal Degeneration Retinal Diseases Seizures Signs and Symptoms Speech Disorders Splenic Diseases Vision Disorders Epilepsy
References	Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
GDGDB (ID) Link to the Glyco-Disease Genes Database	58