Experimental Factor Ontology

Last uploaded: June 18, 2024

Preferred Name	obsolete_Mucolipidosis type II
Synonyms	I-cell disease N-acetylglucosamine 1-phosphotransferase deficiency
Definitions	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
ID	http://www.orpha.net/ORDO/Orphanet_576
Obsolete	true
database_cross_reference	ICD10:E77.0 MedDRA:10072928 OMIM:252500 UMLS:C2931894 UMLS:C0020725 MeSH:C538602
definition	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
definition_citation	orphanet
deprecated	true
has_exact_synonym	N-acetylglucosamine 1-phosphotransferase deficiency I-cell disease
label	obsolete_Mucolipidosis type II
obsoleted_in_version	3.41.0
prefLabel	obsolete_Mucolipidosis type II
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0009650
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_576	ORDO	SAME_URI