National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Neuraminidase Deficiency
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125596
code	C125596
DEFINITION	An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency.
FULL_SYN	Mucolipidosis I Sialidosis Type II
label	Neuraminidase Deficiency
Preferred_Name	Neuraminidase Deficiency
prefixIRI	C125596
prefLabel	Neuraminidase Deficiency
Semantic_Type	Disease or Syndrome
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61267

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/256550	Online Mendelian Inheritance in Man	LOOM