Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
loading...
Preferred Name

PSEUDOXANTHOMA ELASTICUM
Synonyms

PXE, MODIFIER OF SEVERITY OF

PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF

GRONBLAD-STRANDBERG SYNDROME

PXE
ID

http://purl.bioontology.org/ontology/OMIM/264800
altLabel

PXE, MODIFIER OF SEVERITY OF

PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF

GRONBLAD-STRANDBERG SYNDROME

PXE
cui

C0376359

C3279392

C0033847
Gene Locus

17q21.3-q22
Gene Symbol

XT2

XYLT2

SOS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037127

http://purl.bioontology.org/ontology/OMIM/MTHU009890

http://purl.bioontology.org/ontology/OMIM/MTHU009888

http://purl.bioontology.org/ontology/OMIM/MTHU057182

http://purl.bioontology.org/ontology/OMIM/MTHU009878

http://purl.bioontology.org/ontology/OMIM/MTHU009889

http://purl.bioontology.org/ontology/OMIM/MTHU002870

http://purl.bioontology.org/ontology/OMIM/MTHU002067

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU009892

http://purl.bioontology.org/ontology/OMIM/MTHU009902

http://purl.bioontology.org/ontology/OMIM/MTHU009881

http://purl.bioontology.org/ontology/OMIM/MTHU067843

http://purl.bioontology.org/ontology/OMIM/MTHU003281

http://purl.bioontology.org/ontology/OMIM/MTHU039739

http://purl.bioontology.org/ontology/OMIM/MTHU009891

http://purl.bioontology.org/ontology/OMIM/MTHU037860

http://purl.bioontology.org/ontology/OMIM/MTHU002513

http://purl.bioontology.org/ontology/OMIM/MTHU009894

http://purl.bioontology.org/ontology/OMIM/MTHU009899

http://purl.bioontology.org/ontology/OMIM/MTHU009903

http://purl.bioontology.org/ontology/OMIM/MTHU037243

http://purl.bioontology.org/ontology/OMIM/MTHU009877

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU015854

http://purl.bioontology.org/ontology/OMIM/MTHU009895

http://purl.bioontology.org/ontology/OMIM/MTHU037097

http://purl.bioontology.org/ontology/OMIM/MTHU067845

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU009885

http://purl.bioontology.org/ontology/OMIM/MTHU067844

http://purl.bioontology.org/ontology/OMIM/MTHU009879

http://purl.bioontology.org/ontology/OMIM/MTHU009887

http://purl.bioontology.org/ontology/OMIM/MTHU009906

http://purl.bioontology.org/ontology/OMIM/MTHU009893
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

264800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PSEUDOXANTHOMA ELASTICUM
Scope Statement

Sex ratio - 2 females to 1 male [MISCELLANEOUS]

Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, 603234.0001) [MOLECULAR BASIS]

See 177850 for description of heterozygous phenotype [MISCELLANEOUS]

Incidence - 1 in 25,000-100,000 [MISCELLANEOUS]

Majority of cases diagnosed at age 10-15 years [MISCELLANEOUS]
tui

T047

T033
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/72744008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/252246005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-90822 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D011561 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/72744008 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D011561 MESH CUI
http://purl.bioontology.org/ontology/RCD/PH335 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10037150 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002525 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/252246005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10037150 MEDDRA CUI
http://purl.bioontology.org/ontology/WHO/1651 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRFRE/10037150 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/1849-8016 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D011561 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D011561 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-90820 SNMI CUI
http://purl.bioontology.org/ontology/RCD/PH335 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/239140003 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0033847 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/WHOFRE/1651 WHOFRE CUI
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/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://www.phoc.org.cn/pmo/class/PMO_00037376 PMAPP-PMO 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