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Metadata
ID DOID:0080502
Name GM1 gangliosidosis type 1
Definition A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.
https://www.ncbi.nlm.nih.gov/books/NBK164500/
Xrefs

GARD:6479

MIM:230500

ORDO:79255

Subsets

DO_rare_slim

Parent Relationships

is_a GM1 gangliosidosis

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