BioAssay Ontology

Last uploaded: February 21, 2024
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Preferred Name

pseudoxanthoma elasticum
Synonyms

Gronblad-Strandberg syndrome
Definitions

A connective tissue disease that is 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. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_2738
comment

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

SNOMEDCT_US_2020_03_01:7109007

MESH:D011561

OMIM:177850

UMLS_CUI:C0033847

OMIM:264800

GARD:9643

NCI:C85036

ORDO:758
has exact synonym

Gronblad-Strandberg syndrome
has_obo_namespace

disease_ontology
id

DOID:2738
imported from

http://purl.obolibrary.org/obo/doid.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim
label

pseudoxanthoma elasticum
notation

DOID:2738
prefLabel

pseudoxanthoma elasticum
textual definition

A connective tissue disease that is 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.
subClassOf

http://purl.obolibrary.org/obo/DOID_65

http://purl.obolibrary.org/obo/DOID_0050737
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http://purl.obolibrary.org/obo/DOID_2738 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2738 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2738 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2738 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2738 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2738 FNS-H SAME_URI
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 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://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://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