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Online Mendelian Inheritance in Man
| Preferred Name | GM1-GANGLIOSIDOSIS, TYPE II | |
| Synonyms |
GM1G2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/230600 |
|
| altLabel |
GM1G2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II
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|
| cui |
C0268272 C1968746
|
|
| Gene Locus |
3p21.33
|
|
| Gene Symbol |
GLB1 MPS4B
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|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012885 http://purl.bioontology.org/ontology/OMIM/MTHU012877 http://purl.bioontology.org/ontology/OMIM/MTHU012883 http://purl.bioontology.org/ontology/OMIM/MTHU012884 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU012881 http://purl.bioontology.org/ontology/OMIM/MTHU012882 http://purl.bioontology.org/ontology/OMIM/MTHU001601 http://purl.bioontology.org/ontology/OMIM/MTHU001506 http://purl.bioontology.org/ontology/OMIM/MTHU012873 http://purl.bioontology.org/ontology/OMIM/MTHU002980 http://purl.bioontology.org/ontology/OMIM/MTHU001237 http://purl.bioontology.org/ontology/OMIM/MTHU012872 http://purl.bioontology.org/ontology/OMIM/MTHU036360 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
230600
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
GM1-GANGLIOSIDOSIS, TYPE II
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|
| Scope Statement |
Caused by mutation in the beta-1-galactosidase gene (GLB1, 611458.0003) [MOLECULAR BASIS] Onset of disease 7 months to 3 years [MISCELLANEOUS] Survival to 10 years [MISCELLANEOUS]
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|
| tui |
T047
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |