Systematized Nomenclature of Medicine, International Version

Last uploaded: August 28, 2024

Preferred Name	Infantile GM1 gangliosidosis
Synonyms	GM1 gangliosidosis, type 1 Infantile gangliosidosis with bony involvement Deficiency of beta-galactosidase isoenzymes A, B and C Generalized gangliosidosis
ID	http://purl.bioontology.org/ontology/SNMI/D6-76020
altLabel	GM1 gangliosidosis, type 1 Infantile gangliosidosis with bony involvement Deficiency of beta-galactosidase isoenzymes A, B and C Generalized gangliosidosis
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-6A7A0
cui	C0268271
notation	D6-76020
prefLabel	Infantile GM1 gangliosidosis
SIC	330.1
SMX	(M-27000) (F-6A7A0)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-70000

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/238026007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D016537	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40V8	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016537	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/611458	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/238026007	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/230500	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238026007	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/X40V8	RCD	LOOM
http://nanbyodata.jp/ontology/NANDO_1200067	NANDO	LOOM