GGDonto: Genetic Glyco-Diseases Ontology

CON00089 :  'Niemann-Pick disease, type C1'  (Integration tree)  (Degradation tree)
Common disease names	Niemann-Pick disease, type D, included
Full list of disease names	Preferred Term  NIEMANN-PICK DISEASE, TYPE C1 Preferred Term ABBR  NPC1 Synonyms (from OMIM and MeSH)  NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA  NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK  NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY  NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM  NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM  NIEMANN-PICK DISEASE, TYPE C  NPC INCLUDED  NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED  NIEMANN-PICK DISEASE, TYPE D, INCLUDED
UMLS CUI	C3179455
UMLS SAB	MeSH
UMLS CODE	D052556
OMIM DATA	Gene  NPC1 Gene Number  607623 Phenotype Number  257220
GDGDB	(70)

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