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General Information
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| Term |
GM1 gangliosidosis type 1 |
ID (Ontology) |
DOID:0080502 (Human Disease) |
| 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. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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GM1 gangliosidosis type 1 | 2 | for disease ribbon | GM1 gangliosidosis type 1 | 2 | model of | GM1 gangliosidosis type 1 | 2 |
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