National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Pseudoxanthoma Elasticum
Synonyms

Pseudoxanthoma Elasticum
Definitions

A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85036
code

C85036
Concept_In_Subset

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
DEFINITION

A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels.
FULL_SYN

Pseudoxanthoma Elasticum
label

Pseudoxanthoma Elasticum
Preferred_Name

Pseudoxanthoma Elasticum
prefixIRI

Thesaurus:C85036
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0033847
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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http://www.semanticweb.org/ontologies/STO.owl#OWLClass_88ac4c78_1f95_444a_844b_c48531e063be CVAO LOOM
http://purl.obolibrary.org/obo/MPATH_780 MPATH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/252246005 SNOMEDCT LOOM
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http://identifiers.org/omim/264800 REXO LOOM
http://identifiers.org/omim/264800 GEXO LOOM
http://identifiers.org/omim/264800 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011561 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/264800 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10037150 MEDDRA LOOM
http://purl.bioontology.org/ontology/WHO/1651 WHO-ART LOOM
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http://sbmi.uth.tmc.edu/ontology/ochv#C0473583 OCHV LOOM
rgo:13262 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0033847 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0012502 OMIT LOOM
http://purl.bioontology.org/ontology/CSP/1849-8016 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10306 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2738 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2738 DOID LOOM
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http://www.orpha.net/ORDO/Orphanet_758 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_264800 CCO LOOM
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.750 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3728 HRDO LOOM
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http://purl.obolibrary.org/obo/DERMO_0001791 DERMO LOOM
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http://purl.bioontology.org/ontology/SNMI/D6-90820 SNMI LOOM
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http://purl.jp/bio/4/id/200906005885878294 IOBC LOOM
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http://radlex.org/RID/RID3271 RADLEX LOOM
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http://nanbyodata.jp/ontology/NANDO_1200643 NANDO LOOM