National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Mucolipidosis

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61267

code

C61267

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

Contributing_Source

CTRP

DEFINITION

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.

Display_Name

Mucolipidosis

label

Mucolipidosis

Legacy_Concept_Name

Mucolipidosis

Preferred_Name

Mucolipidosis

prefixIRI

C61267

prefLabel

Mucolipidosis

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0026697

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250

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http://purl.obolibrary.org/obo/DOID_0080488 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.20 International Classification of Diseases, 11th Edition, China LOOM