National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Abetalipoproteinemia
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84525
code

C84525
DEFINITION

An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.
label

Abetalipoproteinemia
Preferred_Name

Abetalipoproteinemia
prefixIRI

C84525
prefLabel

Abetalipoproteinemia
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0000744
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97092
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0008181 Human Phenotype Ontology LOOM
http://purl.obolibrary.org/obo/DOID_1386 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014871 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/200100 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/D000012 Medical Subject Headings LOOM