National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Morquio Syndrome
Synonyms	Morquio Syndrome Mucopolysaccharidosis Type IV Mucopolysaccharidosis IV
Definitions	A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61263
code	C61263
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 characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.
FULL_SYN	Morquio Syndrome Mucopolysaccharidosis Type IV Mucopolysaccharidosis IV
label	Morquio Syndrome
Legacy Concept Name	Morquio_Syndrome
Preferred_Name	Morquio Syndrome
prefixIRI	Thesaurus:C61263
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0026707
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259

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Mapping To	Ontology	Source
http://sbmi.uth.tmc.edu/ontology/ochv#C0026707	OCHV	LOOM
http://purl.obolibrary.org/obo/NCIT_C61263	BERO	LOOM
http://www.co-ode.org/ontologies/galen#MorquioSyndrome	GALEN	LOOM
http://nanbyodata.jp/ontology/NANDO_1200105	NANDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Morquio_Syndrome	CSEO	LOOM
http://www.gamuts.net/entity#Morquio_syndrome	GAMUTS	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/378007	SNOMEDCT	LOOM
http://radlex.org/RID/RID34618	RADLEX	LOOM