National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Cystinuria
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84664
code

C84664
DEFINITION

An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.
label

Cystinuria
Preferred_Name

Cystinuria
prefixIRI

C84664
prefLabel

Cystinuria
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0010691
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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http://purl.bioontology.org/ontology/MESH/D003555 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/HP_0003131 Human Phenotype Ontology LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C60.2 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/220100 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_9266 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.01 International Classification of Diseases, Version 10 - Clinical Modification LOOM