Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	GALACTOSIDASE, BETA-1
Synonyms	GLB1 EBP GM1-GANGLIOSIDOSIS, TYPE I BETA-GALACTOSIDASE-1 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT MUCOPOLYSACCHARIDOSIS, TYPE IVB ELASTIN-BINDING PROTEIN S-GAL GM1-GANGLIOSIDOSIS, TYPE II ELASTIN RECEPTOR 1 GM1-GANGLIOSIDOSIS, TYPE III
ID	http://purl.bioontology.org/ontology/OMIM/611458
altLabel	GLB1 EBP GM1-GANGLIOSIDOSIS, TYPE I BETA-GALACTOSIDASE-1 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT MUCOPOLYSACCHARIDOSIS, TYPE IVB ELASTIN-BINDING PROTEIN S-GAL GM1-GANGLIOSIDOSIS, TYPE II ELASTIN RECEPTOR 1 GM1-GANGLIOSIDOSIS, TYPE III
cui	C0268272 C1415090 C0268271 C1968748 C0086652 C0268273
Gene Locus	3p21.33
Gene Symbol	GLB1 MPS4B
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/611458.0015 http://purl.bioontology.org/ontology/OMIM/611458.0014 http://purl.bioontology.org/ontology/OMIM/611458.0011 http://purl.bioontology.org/ontology/OMIM/611458.0012 http://purl.bioontology.org/ontology/OMIM/611458.0017 http://purl.bioontology.org/ontology/OMIM/611458.0013 http://purl.bioontology.org/ontology/OMIM/611458.0018 http://purl.bioontology.org/ontology/OMIM/611458.0019 http://purl.bioontology.org/ontology/OMIM/611458.0010 http://purl.bioontology.org/ontology/OMIM/611458.0016 http://purl.bioontology.org/ontology/OMIM/611458.0024 http://purl.bioontology.org/ontology/OMIM/611458.0027 http://purl.bioontology.org/ontology/OMIM/611458.0021 http://purl.bioontology.org/ontology/OMIM/611458.0028 http://purl.bioontology.org/ontology/OMIM/611458.0022 http://purl.bioontology.org/ontology/OMIM/611458.0023 http://purl.bioontology.org/ontology/OMIM/611458.0025 http://purl.bioontology.org/ontology/OMIM/611458.0026 http://purl.bioontology.org/ontology/OMIM/611458.0029 http://purl.bioontology.org/ontology/OMIM/611458.0020 http://purl.bioontology.org/ontology/OMIM/611458.0008 http://purl.bioontology.org/ontology/OMIM/611458.0003 http://purl.bioontology.org/ontology/OMIM/611458.0004 http://purl.bioontology.org/ontology/OMIM/611458.0007 http://purl.bioontology.org/ontology/OMIM/611458.0005 http://purl.bioontology.org/ontology/OMIM/611458.0001 http://purl.bioontology.org/ontology/OMIM/611458.0002 http://purl.bioontology.org/ontology/OMIM/611458.0006 http://purl.bioontology.org/ontology/OMIM/611458.0009
MIMTYPEMEANING	Gene with known sequence
notation	611458
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	GALACTOSIDASE, BETA-1
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/18756002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238026007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C566895	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/238044004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D016537	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40V9	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D016537	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016537	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/18756002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-76030	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D016537	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-76020	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X40V8	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016537	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/238026007	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.211	ICD10CM	CUI
http://purl.bioontology.org/ontology/MESH/D009085	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40W7	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D009085	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-70244	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238044004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016537	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-76040	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/238027003	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238027003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40VA	RCD	CUI
http://www.limics.org/hrdo/rdfns#gen_id_16136	HRDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/12091	NIFSTD	LOOM
http://www.orpha.net/ORDO/Orphanet_122156	ORDO	LOOM