Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00086 (Tree)
Name	Niemann-Pick disease, type A
Aliases	neurological type
Disease name:　INCLUDED	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
Disease name:　Preferred Term	NIEMANN-PICK DISEASE, TYPE A
Disease name:　Synonyms (from OMIM and MeSH)	SPHINGOMYELIN LIPIDOSIS SPHINGOMYELINASE DEFICIENCY
UMLS CUI	C0268242
UMLS SAB	MeSH
UMLS CODE	D052536
OMIM DATA:　Gene	SMPD1
OMIM DATA:　Gene Number	607608
OMIM DATA:　Phenotype Number	257200
Symptoms, signs and abnormal clinical and laboratory findings	Ataxia Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Communication Disorders Developmental Disabilities Dyskinesias Dystonia Feeding and Eating Disorders of Childhood Growth Disorders Hepatomegaly Histiocytosis Hyperbilirubinemia Intellectual Disability (Mental Retardation) Learning Disorders Liver Diseases Lung Diseases Lymphatic Diseases Mental Disorders Diagnosed in Childhood Mobility Limitation Motor Skills Disorders Movement Disorders Muscle Hypertonia Muscle Spasticity Muscular Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Paraparesis Paraparesis, Spastic Pathologic Processes Respiratory Tract Diseases Respiratory Tract Infections Retinal Degeneration Retinal Diseases Seizures Signs and Symptoms Signs and Symptoms, Digestive Sleep Disorders Splenic Diseases Vomiting Jaundice Epilepsy
GDGDB (ID) Link to the Glyco-Disease Genes Database	68