Medical Subject Headings

Last uploaded: August 28, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	Pseudoxanthoma Elasticum
Synonyms	Incomplete Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum, Forme Fruste Gronblad-Strandberg Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Pseudoxanthoma Elasticums, Incomplete Elasticum, Incomplete Pseudoxanthoma Elasticums, Incomplete Pseudoxanthoma Pseudoxanthoma Elasticum, Autosomal Dominant Pseudoxanthoma Elasticum, Incomplete Incomplete Pseudoxanthoma Elasticums Syndrome, Gronblad-Strandberg
Definitions	An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
ID	http://purl.bioontology.org/ontology/MESH/D011561
altLabel	Incomplete Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum, Forme Fruste Gronblad-Strandberg Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Pseudoxanthoma Elasticums, Incomplete Elasticum, Incomplete Pseudoxanthoma Elasticums, Incomplete Pseudoxanthoma Pseudoxanthoma Elasticum, Autosomal Dominant Pseudoxanthoma Elasticum, Incomplete Incomplete Pseudoxanthoma Elasticums Syndrome, Gronblad-Strandberg
AN	in titles & translations use diacritic: Grönblad
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0376359 C1867450 C0033847
DC	1
definition	An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
DX	19660101
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Mapped from	http://purl.bioontology.org/ontology/MESH/C566744 http://purl.bioontology.org/ontology/MESH/C563654
MDA	19990101
MMR	20150618
MN	C17.300.766 C16.131.831.766 C17.800.804.766 C17.800.827.750 C14.907.454.530 C16.320.850.750 C15.378.463.515.530
notation	D011561
prefLabel	Pseudoxanthoma Elasticum
TERMUI	T680174 T680173 T842357 T034132 T034133 T680172
TH	OMIM (2013) NLM (1966) NLM (2008) UNK (19XX) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D020141 http://purl.bioontology.org/ontology/MESH/D012868 http://purl.bioontology.org/ontology/MESH/D003240 http://purl.bioontology.org/ontology/MESH/D012873

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/264800	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/177850	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/252246005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/72744008	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/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/OMIM/264800	OMIM	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/OMIM/603234	OMIM	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/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://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	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://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://radlex.org/RID/RID3271	RADLEX	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