Skip to content

Commit b27386a

Browse files
add new myasthenia gravis terms (#10368)
* Update mondo-edit.obo * edited definitions for MG terms * fixed definition formatting for MG * Fix superclass assertion for 'autoimmune thrombocytopenia' * add term tracker item * made requested changes to definitions, added links to database, added abbreviation synonyms, linked to github issue * added one more database xref * revise def fix DOI * Updated descriptions and added orcid * fix ORCIDs/dbxrefs * updated def for seronegative myasthenia gravis * revise definitions * update def * update def --------- Co-authored-by: Nicole Vasilevsky <nicole.a.vasilevsky@gmail.com>
1 parent 6518149 commit b27386a

1 file changed

Lines changed: 45 additions & 0 deletions

File tree

src/ontology/mondo-edit.obo

Lines changed: 45 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -698564,6 +698564,51 @@ is_a: MONDO:0006552 {source="https://orcid.org/0000-0002-0819-0473"} ! folliculi
698564698564
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0819-0473
698565698565
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/8094" xsd:anyURI
698566698566

698567+
[Term]
698568+
id: MONDO:1060001
698569+
name: AChR+ myasthenia gravis
698570+
def: "Myasthenia gravis characterized by the presence of autoantibodies against the muscle nicotinic acetylcholine receptor (AChR) in the serum, which damage the postsynaptic neuromuscular junction and cause skeletal muscle weakness and fatigue." [https://orcid.org/0000-0002-1532-8725, PMID:40651620]
698571+
is_a: MONDO:0009688 {source="PMID:40651620"} ! myasthenia gravis
698572+
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/10321" xsd:anyURI
698573+
698574+
[Term]
698575+
id: MONDO:1060002
698576+
name: ocular myasthenia gravis
698577+
def: "Myasthenia gravis in which the muscles around the eyes are affected, that typically presents with ptosis and/or diplopia due to ophthalmoplegia" [https://orcid.org/0000-0002-1532-8725, PMID:36778719]
698578+
synonym: "ocular myasthenia" EXACT [SCTID:230684008]
698579+
synonym: "OMG" EXACT ABBREVIATION [SCTID:230684008]
698580+
xref: SCTID:230684008 {source="MONDO:equivalentTo"}
698581+
is_a: MONDO:0009688 {source="PMID:36778719"} ! myasthenia gravis
698582+
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/10321" xsd:anyURI
698583+
698584+
[Term]
698585+
id: MONDO:1060003
698586+
name: muscle-specific tyrosine kinase-associated myasthenia gravis
698587+
def: "Myasthenia gravis characterized by the presence of autoantibodies against muscle-specific tyrosine kinase (MuSK) in the serum" [doi:10.1016/j.jns.2025.123449, https://orcid.org/0000-0002-1532-8725]
698588+
synonym: "MuSK+ myasthenia gravis" EXACT [SCTID:521000146105]
698589+
synonym: "myasthenia gravis caused by muscle-specific tyrosine kinase antibodies" EXACT [SCTID:521000146105]
698590+
xref: SCTID:521000146105 {source="MONDO:equivalentTo"}
698591+
is_a: MONDO:0009688 {source="doi:10.1016/j.jns.2025.123449"} ! myasthenia gravis
698592+
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/10321" xsd:anyURI
698593+
698594+
[Term]
698595+
id: MONDO:1060004
698596+
name: seronegative myasthenia gravis
698597+
def: "Myasthenia gravis characterized by the absence of detectable pathogenic auto-antibodies against acetylcholine receptor (AChR), muscle-specific tyrosine kinases (MuSK), and/or low-density lipoprotein receptor-related protein 4 (LRP4) in the sera." [https://orcid.org/0000-0002-1532-8725, PMID:37759888]
698598+
synonym: "SnMG" EXACT ABBREVIATION [PMID:37759888]
698599+
is_a: MONDO:0009688 {source="PMID:37759888"} ! myasthenia gravis
698600+
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/10321" xsd:anyURI
698601+
698602+
[Term]
698603+
id: MONDO:1060006
698604+
name: generalized myasthenia gravis
698605+
def: "Myasthenia gravis in which muscle weakness affects one or more skeletal muscle groups outside the extraocular muscles" [https://orcid.org/0000-0002-1532-8725, PMID:38117543]
698606+
synonym: "generalized myasthenia" EXACT [SCTID:230686005]
698607+
synonym: "gMG" EXACT ABBREVIATION [SCTID:230686005]
698608+
xref: SCTID:230686005 {source="MONDO:equivalentTo"}
698609+
is_a: MONDO:0009688 {source="PMID:38117543"} ! myasthenia gravis
698610+
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/10321" xsd:anyURI
698611+
698567698612
[Term]
698568698613
id: MONDO:1060107
698569698614
name: CYP7B1-related disorder of oxysterol accumulation

0 commit comments

Comments
 (0)