The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
Gangliosidosis, GM1
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 2 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidosis, GM1 |
History note: | |
historyNote*: | 2007(1992)
X |
publicMeSHNote*: | 2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999
X |
Scope note: | An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1991-06-21X |
dateEstablished*: | 1992-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AGSX |
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Labels and equivalent concepts: | Gangliosidoosi, GM1 (fi) XGM1-gangliosidoosi (fi, replaced) GM1-gangliosidoosit (fi, replaced) Generalized Gangliosidosis (en, replaced) Gangliosidosis GM1, Type 3 (en, replaced) GM1 Gangliosidosis (en, replaced) Gangliosidosis GM1, Type 2 (en, replaced) Gangliosidosis GM1, Type 1 (en, replaced) Gangliosidosis G(M1) (en, replaced) G(M1) Gangliosidosis (en, replaced) Gangliosidosis GM1 (en, replaced) Gangliosidosis GM1, Adult (en, replaced) Gangliosidosis GM1, Juvenile (en, replaced) Gangliosidosis GM1, Infantile (en, replaced) Beta-Galactosidase-1 Deficiency Disease (en, replaced) Gangliosidosis GM1 (la-FI, replaced) |
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