Link to this page
Cell Culture Ontology
| Preferred Name | Myasthenia gravis | |
| Synonyms |
MG acquired myasthenia autoimmune myasthenia gravis myasthenia gravis |
|
| Definitions |
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459) Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0004991 |
|
| database_cross_reference |
Orphanet:589 MONDO:0009688 NANDO:2100252 SCTID:91637004 NCIt:C60989 NANDO:1200020 ICD9:358.00 MedDRA:10028417 icd11.foundation:1270100227 SNOMEDCT:91637004 ICD10CM:G70.0 UMLS:C0026896 NCIT:C60989 MEDGEN:7764 OMIM:254200 MeSH:D009157 MESH:D009157 NANDO:2200906 DOID:437 GARD:7122 ICD10:G70 ICD9:358.0 NORD:1478
|
|
| definition |
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459) Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.
|
|
| gwas_trait |
true
|
|
| has_exact_synonym |
acquired myasthenia autoimmune myasthenia gravis myasthenia gravis
|
|
| has_related_synonym |
MG
|
|
| id |
EFO:0004991
|
|
| 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_disorder |
|
| label |
Myasthenia gravis
|
|
| notation |
EFO:0004991
|
|
| preferred label |
Myasthenia gravis
|
|
| prefLabel |
Myasthenia gravis
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_437 http://purl.obolibrary.org/obo/NCIT_C60989 http://linkedlifedata.com/resource/umls/id/C0026896 http://identifiers.org/snomedct/91637004 http://purl.bioontology.org/ontology/ICD10CM/G70.0 http://purl.obolibrary.org/obo/EFO_0004991 http://identifiers.org/medgen/7764 http://purl.obolibrary.org/obo/Orphanet_589 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1270100227 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0005140 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |