GGDonto: Genetic Glyco-Diseases Ontology

CON00086 :  'Niemann-Pick disease, type A'  (Integration tree)  (Degradation tree)
Common disease names	neurological type
Full list of disease names	Preferred Term  NIEMANN-PICK DISEASE, TYPE A Synonyms (from OMIM and MeSH)  SPHINGOMYELIN LIPIDOSIS  SPHINGOMYELINASE DEFICIENCY INCLUDED  NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
UMLS CUI	C0268242
UMLS SAB	MeSH
UMLS CODE	D052536
OMIM DATA	Gene  SMPD1 Gene Number  607608 Phenotype Number  257200
GDGDB	(68)

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