Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

mixed connective tissue disease

Synonyms

connective tissue disease overlap syndrome

mixed connective tissue disease

mixed collagen vascular disease

mixed collagen vascular disease (disorder)

Connective tissue disease overlap syndrome (disorder)

Mixed Connective Tissue Disease

sharp syndrome

MCTD

Definitions

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

ID

http://www.ebi.ac.uk/efo/EFO_0007374

closeMatch

http://identifiers.org/meddra/10027754

database_cross_reference

NANDO:1200278

SCTID:398049005

icd11.foundation:891652224

NCIT:C84892

MedDRA:10027754

UMLS:C0026272

NANDO:2200430

Orphanet:809

MeSH:D008947

MESH:D008947

DOID:3492

GARD:7051

NORD:1451

MONDO:0005854

definition

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.

A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

exactMatch

http://identifiers.org/mesh/D008947

http://purl.obolibrary.org/obo/Orphanet_809

http://identifiers.org/snomedct/398049005

http://purl.obolibrary.org/obo/DOID_3492

http://purl.obolibrary.org/obo/NCIT_C84892

http://linkedlifedata.com/resource/umls/id/C0026272

has_exact_synonym

connective tissue disease overlap syndrome

mixed connective tissue disease

mixed collagen vascular disease

mixed collagen vascular disease (disorder)

Connective tissue disease overlap syndrome (disorder)

Mixed Connective Tissue Disease

sharp syndrome

MCTD

id

EFO:0007374

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease

label

mixed connective tissue disease

notation

EFO:0007374

preferred label

mixed connective tissue disease

prefLabel

mixed connective tissue disease

see also

https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease

term editor

Sirarat Sarntivijai

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000589

http://purl.obolibrary.org/obo/MONDO_0016663

http://www.ebi.ac.uk/efo/EFO_0005755

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0005172

http://purl.obolibrary.org/obo/MONDO_0019724

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3492 DDSS LOOM
http://www.orpha.net/ORDO/Orphanet_809 ORDO LOOM
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://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://www.orpha.net/ORDO/Orphanet_809 ORDO 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