RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Henoch-Schoenlein purpura
Accession: DOID:11123
browse the term
Definition: A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. (DO)
Synonyms: exact_synonym: Anaphylactoid Purpura; HSP; Hemorrhagic Vasculitis; Henoch Purpura; Henoch Schonlein Purpura; Henoch Schonlein Purpuras; Henoch-Scholein purpura; Henoch-Schönlein purpura; IgA vasculitis; IgAV; Nonthrombocytopenic Purpura; Nonthrombopenic Purpura; Nonthrombopenic Purpuras; Purpura Hemorrhagica; allergic purpura; autoimmune purpura; rheumatoid purpura
narrow_synonym: Henoch-Schoenlein purpura nephritis
primary_id: MESH:D011695
xref: EFO:1000965 ; GARD:8204 ; ICD10CM:D69.0 ; ICD9CM:287.0 ; NCI:C34963
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ace
angiotensin I converting enzyme
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15315169
RGD:11038920
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Agt
angiotensinogen
severity
ISO
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human)
RGD
PMID:16521052 PMID:20702504
RGD:11039045 , RGD:11039055
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human)
RGD
PMID:26234573 PMID:25839768
RGD:11522500 , RGD:11528567
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Cd86
CD86 molecule
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il27
interleukin 27
ISO
mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"
RGD
PMID:33280050
RGD:126790550
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Kng1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
G
Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
G
Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:mutations:exons: DNA:mutation:exon:p. E148Q (human) DNA:mutations:cds:
RGD
PMID:22451026 PMID:20602240 PMID:25232290
RGD:7349346 , RGD:7349347 , RGD:11531116
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all