National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Mucopolysaccharidosis Type IVA
Synonyms	Mucopolysaccharidosis Type IVA MPS IV A
Definitions	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84901
code	C84901
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source	Cellosaurus
DEFINITION	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
FULL_SYN	Mucopolysaccharidosis Type IVA MPS IV A
label	Mucopolysaccharidosis Type IVA
Preferred_Name	Mucopolysaccharidosis Type IVA
prefixIRI	Thesaurus:C84901
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0086651
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61263

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/253000	OMIM	LOOM
http://purl.bioontology.org/ontology/RCD/X40W6	RCD	LOOM
http://www.owl-ontologies.com/NPOntology.owl#mucopolysaccharidosis_type_IV_A	NATPRO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201178	NANDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis_Type_IVA	CSEO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84901	BERO	LOOM