PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Pseudoxanthoma Elasticum
Synonyms
Definitions

An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.

ID

http://www.phoc.org.cn/pmo/class/PMO_00037376

Database_Cross_Reference

MDR:10037150

CCPSS:0043215

DO:DOID:2738

SNOMEDCT_US:205574000

MTH:NOCODE

MEDLINEPLUS:1411

SNOMEDCT_US:252246005

COSTAR:NOCODE

OMIM:264800

SNOMEDCT_US:239140003

NCI:C85036

MEDCIN:31801

SNM:M-56890

MSH:D011561

SNOMEDCT_US:268355000

RCD:PH335

CHV:0000010306

DXP:U001611

OMIM:603234

SNMI:D6-90820

NDFRT:N0000002525

DXP:NOCODE

SNOMEDCT_US:157017000

CSP:1849-8016

SNOMEDCT_US:7109007

LCH_NW:sh2005005155

Definition

An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.

label

Pseudoxanthoma Elasticum

MCID

MC00010860

PMOID

PMO:00037376

prefixIRI

pmo:PMO_00037376

prefLabel

Pseudoxanthoma Elasticum

Synonym

Pseudoxanthoma Elasticum [Disease/Finding]

Gronblad-Strandberg syndrome

Pseudoxanthoma elasticum (disorder) [Ambiguous]

ELASTOSIS DYSTROPHICA SYNDROME

Pseudoxanthoma elasticum [Ambiguous]

pseudoxanthoma elasticum (diagnosis)

ELASTORRHEXIS, SYSTEMIC, OF TOURAINE

elasticum pseudoxanthoma

Groenblad-Strandberg syndrome

PXE - Pseudoxanthoma elasticum

PXE

PSEUDOXANTHOMA ELASTICUM

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (disorder)

pseudoxanthoma elasticum

Tree Number

T9.5.2.12.16.11

T9.8.4.1.27

T9.14.1.5.11

T9.14.2.19

T9.8.3.4.11

T9.14.1.1.27

T9.20.2.36.11

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036738

http://www.phoc.org.cn/pmo/class/PMO_00039222

http://www.phoc.org.cn/pmo/class/PMO_00039327

http://www.phoc.org.cn/pmo/class/PMO_00037374

http://www.phoc.org.cn/pmo/class/PMO_00008954

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2738 DOID LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_88ac4c78_1f95_444a_844b_c48531e063be STO-DRAFT LOOM
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
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.766 RH-MESH LOOM
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
http://www.owl-ontologies.com/unnamed.owl#RID14672 DERMLEX LOOM
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
http://purl.obolibrary.org/obo/DOID_2738 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2738 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2738 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2738 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2738 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.454.530 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_758 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_758 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_758 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_264800 CCO LOOM
http://purl.obolibrary.org/obo/NCIT_C85036 BERO LOOM
http://www.radlex.org/RID/RID3271 RADLEX LOOM
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
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859248 ACVD_ONTOLOGY LOOM
http://purl.obolibrary.org/obo/DERMO_0001791 DERMO LOOM
http://purl.bioontology.org/ontology/MESH/D011561 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.515.530 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-90820 SNMI LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2738 NATPRO LOOM
http://purl.bioontology.org/ontology/RCD/PH335 RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85036 NCIT LOOM
http://purl.jp/bio/4/id/200906005885878294 IOBC LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33500 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.766 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pseudoxanthoma_Elasticum CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.766 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200643 NANDO LOOM