National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Hepatolenticular Degeneration
Synonyms

Wilson Disease

Wilson's Disease

Hepatolenticular Degeneration
Definitions

A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84756
code

C84756
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus

CCPS
DEFINITION

A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
FULL_SYN

Wilson Disease

Wilson's Disease

Hepatolenticular Degeneration
label

Hepatolenticular Degeneration
Preferred_Name

Hepatolenticular Degeneration
prefixIRI

Thesaurus:C84756
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177192
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0019202
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006527 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.618.403 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019819 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_893 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6060 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84756 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.360 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0007695 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D006527 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.079.493 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019202 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_893 CLO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.662.400 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.360 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.360 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.552.413 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019202 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.360 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.487 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036966 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/CSP/1849-4349 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.618.403 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hepatolenticular_Degeneration CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.361 RH-MESH LOOM