Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Acid beta-glucosidase deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU012847
cui	C1961835
Manifestation of	http://purl.bioontology.org/ontology/OMIM/230800 http://purl.bioontology.org/ontology/OMIM/230900
notation	MTHU012847
prefLabel	Acid beta-glucosidase deficiency
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000012

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D005776	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/62201009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10075697	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10075697	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005776	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74110	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62201009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10075697	MDRGER	CUI