loading...| Preferred Name | GM2 gangliosidosis | |
| Synonyms |
GM2-gangliosidosis, B, B1, AB variant GM>2< gangliosidosis gangliosidosis GM2 |
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| Definitions |
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017720 |
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| altLabel |
GM2-gangliosidosis, B, B1, AB variant GM>2< gangliosidosis gangliosidosis GM2 |
|
| definition |
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. |
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| has_exact_synonym |
GM>2< gangliosidosis gangliosidosis GM2 |
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| has_related_synonym |
GM2-gangliosidosis, B, B1, AB variant |
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| label |
GM2 gangliosidosis |
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| prefixIRI |
MONDO:0017720 |
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| prefLabel |
GM2 gangliosidosis |
|
| textual definition |
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. |
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| subClassOf |