Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Mixed connective tissue disease

Synonyms

Sharp syndrome

MCTD

Definitions

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).

ID

http://www.orpha.net/ORDO/Orphanet_809

alternative_term

Sharp syndrome

MCTD

definition

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=809

has_age_of_onset

Adolescent

Adult

Childhood

has_inheritance

Multigenic/multifactorial

hasDbXref

MedDRA:10027754

UMLS:C0026272

ICD-11:4A43.3

MeSH:D008947

ICD-10:M35.1

label

Mixed connective tissue disease

notation

ORPHA:809

part_of

http://www.orpha.net/ORDO/Orphanet_251312

http://www.orpha.net/ORDO/Orphanet_209007

http://www.orpha.net/ORDO/Orphanet_182104

http://www.orpha.net/ORDO/Orphanet_567558

prefixIRI

ORDO:Orphanet_809

prefLabel

Mixed connective tissue disease

present_in

Japan AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000

Finland AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_251312

http://www.orpha.net/ORDO/Orphanet_209007

http://www.orpha.net/ORDO/Orphanet_182104

http://www.orpha.net/ORDO/Orphanet_567558

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.limics.org/hrdo/rdfns#pat_id_3631 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_3492 DOID LOOM
rgo:10080 GAMUTS LOOM
http://www.ebi.ac.uk/efo/EFO_0007374 EFO LOOM
http://purl.obolibrary.org/obo/DOID_3492 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0005854 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200278 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200430 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10027754 MEDDRA LOOM
http://bmi.utah.edu/ontologies/hfontology/C0026272 HFO LOOM
http://purl.bioontology.org/ontology/AIR/DXMCT AI-RHEUM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026272 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/X705H RCD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039234 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.540 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008947 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0001940 DERMO LOOM
http://purl.obolibrary.org/obo/DOID_3492 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3492 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3492 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3492 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3492 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84892 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84892 NCIT LOOM
http://purl.jp/bio/4/id/200906049206857299 IOBC LOOM
http://localhost/plosthes.2017-1#3984 PLOSTHES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mixed_Connective_Tissue_Disease CSEO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Mixed_connective_tissue_disease RPO LOOM
http://purl.bioontology.org/ontology/MESH/D008947 MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15940 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8197 OCHV LOOM
http://purl.bioontology.org/ontology/AIR/MCT AI-RHEUM LOOM
http://id.nlm.nih.gov/mesh/D008947 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0009996 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3492 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026272 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/MONDO_0005854 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0005854 KTAO LOOM
http://www.gamuts.net/entity#mixed_connective_tissue_disease GAMUTS REST