National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Pachyonychia Congenita
Synonyms

Pachyonychia Congenita
Definitions

A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT16, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84986
code

C84986
DEFINITION

A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT16, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails.
FULL_SYN

Pachyonychia Congenita
label

Pachyonychia Congenita
Preferred_Name

Pachyonychia Congenita
prefixIRI

Thesaurus:C84986
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C105977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C190241

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C190245

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118928
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0265334
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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http://purl.obolibrary.org/obo/MONDO_0016471 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016471 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050449 DOID LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039297 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pachyonychia_Congenita CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.856 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15148 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.856 RH-MESH LOOM
http://www.gamuts.net/entity#pachyonychia_congenita GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2169 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080088 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_2309 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.856 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84986 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.856 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0025437 OMIT LOOM
http://purl.obolibrary.org/obo/DERMO_0001612 DERMO LOOM
http://purl.bioontology.org/ontology/RCD/XE1MU RCD LOOM
http://purl.bioontology.org/ontology/MESH/D053549 MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050449 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050449 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050449 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050449 FNS-H LOOM
http://purl.jp/bio/4/id/200906005018288123 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D053549 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0016471 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.529.594 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050449 NATPRO LOOM