Experimental Factor Ontology

Last uploaded: November 18, 2024

Preferred Name	obsolete_GM1 gangliosidosis
Synonyms	GLB1 deficiency Beta-galactosidase-1 deficiency Landing disease
Definitions	GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
ID	http://www.orpha.net/ORDO/Orphanet_354
Obsolete	true
database_cross_reference	UMLS:C0085131 MedDRA:10083308 OMIM:230500 ICD10:E75.1 OMIM:230600 OMIM:230650 MeSH:D016537
definition	GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
definition_citation	orphanet
deprecated	true
has_exact_synonym	GLB1 deficiency Beta-galactosidase-1 deficiency Landing disease
label	obsolete_GM1 gangliosidosis
obsoleted_in_version	3.41.0
preferred label	obsolete_GM1 gangliosidosis
prefLabel	obsolete_GM1 gangliosidosis
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0018149
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_354	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_354	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_354	CCONT	LOOM