gangliosidosis

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Information
Disease name
gangliosidosis
Disease ID
DOID:2368
Description
"A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides." [url:https\://en.wikipedia.org/wiki/Gangliosidosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
NCT ID Status Phase Summary Start date Completion date
NCT03952637 Recruiting Phase 1/Phase 2 A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis August 19, 2019 January 1, 2028
Disase is a (Disease Ontology)
DOID:1927
Cross Reference ID (Disease Ontology)
GARD:12510
Cross Reference ID (Disease Ontology)
ICD10CM:E75.10
Cross Reference ID (Disease Ontology)
MESH:D005733
Cross Reference ID (Disease Ontology)
ORDO:309144
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:50967008
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0017083
MedGen concept unique identifier (MedGen Concept name)
C0017083
MedGen unique identifier (MedGen Concept name)
42149