Search Ontology:
Human Disease

GM1 gangliosidosis type 1

Term ID
DOID:0080502
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080502 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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