GGDonto: Genetic Glyco-Diseases Ontology

CON00051 :  'GM1-gangliosidosis, type I'  (Integration tree)  (Degradation tree)
Common disease names	infantile form
Full list of disease names	Preferred Term  GM1-GANGLIOSIDOSIS, TYPE I Synonyms (from OMIM and MeSH)  BETA-GALACTOSIDASE-1 DEFICIENCY  GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM  GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1  GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I  GLB1 DEFICIENCY INCLUDED  GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED  GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
UMLS CUI	C0268271
UMLS SAB	MeSH
UMLS CODE	D016537
OMIM DATA	Gene  GLB1 Gene Number  611458 Phenotype Number  230500
References	Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB	(53)

Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)