loading...| Preferred Name |
gangliosidosis GM1 |
|
| Synonyms |
beta galactosidase deficiency |
|
| Definitions |
form of gangliosidosis characterized by accumulation of G(M1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase (type A1); three phenotypes of this disorder are infantile (generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-8633 |
|
| altLabel |
beta galactosidase deficiency Landing syndrome |
|
| cui |
C0085131 C2718068 |
|
| definition |
form of gangliosidosis characterized by accumulation of G(M1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase (type A1); three phenotypes of this disorder are infantile (generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. |
|
| DID |
1849-8633 |
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| Inverse of RB | ||
| notation |
1849-8633 |
|
| prefLabel |
gangliosidosis GM1 |
|
| tui |
T047 |
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| subClassOf |