Online Mendelian Inheritance in Man - GM1-GANGLIOSIDOSIS, TYPE II - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/230600 http://purl.bioontology.org/ontology/OMIM/230600
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
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GM1G2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II
prefLabel	GM1-GANGLIOSIDOSIS, TYPE II
Gene Symbol	GLB1 MPS4B
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]
type	http://www.w3.org/2002/07/owl#Class
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 http://purl.bioontology.org/ontology/OMIM/MTHU000885 http://purl.bioontology.org/ontology/OMIM/MTHU000199 See more See less
tui	T047
Gene Locus	3p21.33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	230600
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0268272 C1968746
OMIM Entry Type	3
OMIM MimType Value	pound

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