Experimental Factor Ontology / 实验性因素本体

Last uploaded: September 7, 2023

Preferred Name	obsolete_Hurler-Scheie syndrome
Synonyms	Mucopolysaccharidosis type 1H/S MPS1H/S Mucopolysaccharidosis type IH/S
Definitions	Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
ID	http://www.orpha.net/ORDO/Orphanet_93476
Obsolete	true
database_cross_reference	OMIM:607015 ICD10:E76.0 MedDRA:10056916 UMLS:C0086431
definition	Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Mucopolysaccharidosis type 1H/S MPS1H/S Mucopolysaccharidosis type IH/S
label	obsolete_Hurler-Scheie syndrome
obsoleted_in_version	3.41.0
prefLabel	obsolete_Hurler-Scheie syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0011759
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_93476	Orphanet Rare Disease Ontology / Orphanet罕见病本体	SAME_URI