loading...| Preferred Name |
GM1-GANGLIOSIDOSIS, TYPE II |
|
| Synonyms |
GM1G2 |
|
| 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 |
|
| cui |
C0268272 C1968746 |
|
| Gene Locus |
3p21.33 |
|
| Gene Symbol |
GLB1 MPS4B |
|
| 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 |
|
| 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] |
|
| tui |
T047 |