Skip to content

Commit

Permalink
revised synonym scope for 'C1Q deficiency'
Browse files Browse the repository at this point in the history
closes #940
  • Loading branch information
nicolevasilevsky committed Nov 12, 2019
1 parent 9255360 commit b19008f
Showing 1 changed file with 3 additions and 3 deletions.
6 changes: 3 additions & 3 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -264179,8 +264179,8 @@ name: C1Q deficiency
def: "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis . C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex . This complex is important for the activation of the complement system (a group of proteins that work with the immune system ). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis , urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts ;loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis . About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA , C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation , a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." [https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency]
subset: gard_rare {source="GARD:0012958"}
synonym: "C1Q deficiency" EXACT [MONDO:Lexical, OMIM:613652]
synonym: "C1q deficiency; C1QD" RELATED [OMIM:613652]
synonym: "C1QD" RELATED [MONDO:Lexical, OMIM:613652]
synonym: "C1q deficiency; C1QD" EXACT [OMIM:613652]
synonym: "C1QD" EXACT [MONDO:Lexical, OMIM:613652]
xref: GARD:0012958 {source="MONDO:equivalentTo"}
xref: NCIT:C119990 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.87/15.87"}
xref: OMIM:613652 {source="MONDO:equivalentTo"}
Expand Down Expand Up @@ -362551,8 +362551,8 @@ xref: ICD10:M31.7 {source="ORDO:727/e", source="EFO:1000784", source="MONDO:equi
xref: MedDRA:10063344 {source="ORDO:727/e", source="EFO:1000784", source="Orphanet:727"}
xref: MESH:D055953 {source="ORDO:727/e", source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="MONDO:ontobio"}
xref: NCIT:C70549 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.85/15.45"}
xref: Orphanet:727 {source="EFO:1000784"}
xref: Orphanet:727 {source="MONDO:equivalentTo"}
xref: Orphanet:727 {source="EFO:1000784"}
xref: SCTID:239928004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.99/0.73/5.43"}
xref: UMLS:C0343192 {source="ORDO:727/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:727"}
xref: UMLS:C2347126 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C70549"}
Expand Down

0 comments on commit b19008f

Please sign in to comment.