OBO ID: DOID:0080502
Term Name: GM1 gangliosidosis type 1 Search Ontology:
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://omim.org/entry/230500
References:
Ontology: Human Disease   ( DOID:0080502 )
Relationships
is a type of:
OTHER GM1 gangliosidosis type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLB1 GM1-gangliosidosis, type I 230500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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