National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Mucopolysaccharidosis
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259
code	C61259
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250
label	Mucopolysaccharidosis
Legacy_Concept_Name	Mucopolysaccharidosis
NICHD_Hierarchy_Term	Mucopolysaccharidosis
Preferred_Name	Mucopolysaccharidosis
prefixIRI	C61259
prefLabel	Mucopolysaccharidosis
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0026703
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97089 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_12798	Human Disease Ontology 123	LOOM
	http://purl.bmicc.cn/ontology/ICD11CN/5C56.3	International Classification of Diseases, 11th Edition, China	LOOM