National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Mucolipidosis

Synonyms

Mucolipidosis

Definitions

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

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#C116977

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

FULL_SYN

Mucolipidosis

label

Mucolipidosis

Legacy Concept Name

Mucolipidosis

Preferred_Name

Mucolipidosis

prefixIRI

Thesaurus:C61267

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0026697

subClassOf

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

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