Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00067 (Tree)
Name	Gaucher disease, type II
Disease name:　Preferred Term	GAUCHER DISEASE, TYPE II
Disease name:　Synonyms (from OMIM and MeSH)	GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE GD II
UMLS CUI	C0268250,C1842704
UMLS SAB	MeSH (SCR)
UMLS CODE	D005776,C564306
OMIM DATA:　Gene	GBA
OMIM DATA:　Gene Number	606463
OMIM DATA:　Phenotype Number	230900, 608013
Symptoms, signs and abnormal clinical and laboratory findings	Anemia Blood Platelet Disorders Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Craniofacial Abnormalities Deglutition Disorders (Swallowing difficulty) Dementia Developmental Disabilities Dyskinesias Dyspnea Edema Eye Diseases Fasciculation (Spontaneous contraction of muscle) Hematologic Diseases Hemorrhagic Disorders Hepatomegaly Hydrops Fetalis Ichthyosis Intellectual Disability (Mental Retardation) Liver Diseases Lung Diseases Lymphatic Diseases Maxillofacial Abnormalities Mental Disorders Diagnosed in Childhood Motor Skills Disorders Movement Disorders Neurobehavioral Manifestations Neurologic Manifestations Neuromuscular Manifestations Ocular Motility Disorders Pharyngeal Diseases Respiration Disorders Respiratory Tract Diseases Seizures Skin Abnormalities Skin Diseases Splenic Diseases Stomatognathic System Abnormalities Thrombocytopenia Cranial Nerve Diseases Epilepsy Esophageal Diseases
GDGDB (ID) Link to the Glyco-Disease Genes Database	64