National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Hyperlysinemia

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123433

code

C123433

DEFINITION

An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.

label

Hyperlysinemia

Preferred_Name

Hyperlysinemia

prefixIRI

C123433

prefLabel

Hyperlysinemia

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3235

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU047634 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_9274 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/LNC/LA12501-5 Logical Observation Identifier Names and Codes LOOM