Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GM1-GANGLIOSIDOSIS, TYPE III

Synonyms

GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE

ID

http://purl.bioontology.org/ontology/OMIM/230650

altLabel

GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE

GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3

GM1G3

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III

cui

C0268273

Gene Locus

3p21.33

Gene Symbol

GLB1

MPS4B

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012877

http://purl.bioontology.org/ontology/OMIM/MTHU012875

http://purl.bioontology.org/ontology/OMIM/MTHU012870

http://purl.bioontology.org/ontology/OMIM/MTHU012876

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU001506

http://purl.bioontology.org/ontology/OMIM/MTHU009220

http://purl.bioontology.org/ontology/OMIM/MTHU012871

http://purl.bioontology.org/ontology/OMIM/MTHU012873

http://purl.bioontology.org/ontology/OMIM/MTHU012872

http://purl.bioontology.org/ontology/OMIM/MTHU003443

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU012878

http://purl.bioontology.org/ontology/OMIM/MTHU036958

http://purl.bioontology.org/ontology/OMIM/MTHU012868

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU036382

http://purl.bioontology.org/ontology/OMIM/MTHU005544

http://purl.bioontology.org/ontology/OMIM/MTHU000885

http://purl.bioontology.org/ontology/OMIM/MTHU012869

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU012874

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

230650

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GM1-GANGLIOSIDOSIS, TYPE III

Scope Statement

Caused by mutation in the beta-1-galactosidase gene (GLB1, 611458.0004) [MOLECULAR BASIS]

Onset of disease 3-30 years [MISCELLANEOUS]

tui

T047

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