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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#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
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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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080488 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0080488 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019248 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019248 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_79212 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.20 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM