GM1-GANGLIOSIDOSIS, TYPE I

GM1G1

http://purl.bioontology.org/ontology/OMIM/230500

GM1G1

BETA-GALACTOSIDASE-1 DEFICIENCY

GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT

GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT

GLB1 DEFICIENCY

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1

GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I

C0085131

C0268271

C1968748

3p21.33

GLB1

MPS4B

http://purl.bioontology.org/ontology/OMIM/MTHU001048

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU011274

http://purl.bioontology.org/ontology/OMIM/MTHU009274

http://purl.bioontology.org/ontology/OMIM/MTHU041913

http://purl.bioontology.org/ontology/OMIM/MTHU002713

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU001652

http://purl.bioontology.org/ontology/OMIM/MTHU012890

http://purl.bioontology.org/ontology/OMIM/MTHU036754

http://purl.bioontology.org/ontology/OMIM/MTHU010456

http://purl.bioontology.org/ontology/OMIM/MTHU012898

http://purl.bioontology.org/ontology/OMIM/MTHU007190

http://purl.bioontology.org/ontology/OMIM/MTHU012893

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU009461

http://purl.bioontology.org/ontology/OMIM/MTHU002680

http://purl.bioontology.org/ontology/OMIM/MTHU001349

http://purl.bioontology.org/ontology/OMIM/MTHU012892

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU012894

http://purl.bioontology.org/ontology/OMIM/MTHU012891

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU012889

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU004047

http://purl.bioontology.org/ontology/OMIM/MTHU000260

Phenotype description, molecular basis known.

230500

3

pound

GM1-GANGLIOSIDOSIS, TYPE I

Caused by mutation in the beta-1 galactosidase gene (GLB1, 611458.0001) [MOLECULAR BASIS]

Allelic to mucopolysaccharidosis IVB [MISCELLANEOUS]

Death in infancy [MISCELLANEOUS]

T047