Crohn's disease
Basic details
Preferred term: Crohn's disease
Alt. terms: Morbus Crohn | Granulomatous enteritis and colitis | regional enteritis
HPO term: Crohn's disease
HPO code: HP:0100280
GenIA ID: 441
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: D003424
EFO:0000384
OAE: -
SNOMEDCT: -
ICD10: K50
Description
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | - | German | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101058 | M | 210120 | - | Inflammation of the large intestine | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
101062 | M | 212603![]() |
3 | South Asian | Inflammation of the large intestine | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101076 | F | 210226 | 46 | German | Crohn's disease | PMID:34975878 [Fam.F041:P041] | |
101097 | F | 211399 | 46 | Crohn's disease | PMID:34975878 [Fam.F061:P061] | ||
101119 | M | 210264 | 15 | Inflammation of the large intestine | PMID:34975878 [Fam.F070:P070] | ||
101139 | F | 212090 | 9 | Crohn's disease | PMID:34975878 [Fam.F399:P399] | ||
101199 | F | 211483 | - | German | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101260 | M | 212144 | - | Iranian | Crohn's disease | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101286 | F | 212146 | - | Saudi | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
101287 | F | 212146 | - | Saudi | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9] |
101292 | F | 212146 | 16 | Saudi | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:VI.2(VI:2)]; PMID:26707784 [P7] |
101295 | M | 212146 | 0 | Saudi | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6] |
101461 | M | 210929 | 41,- | German | Crohn's disease,Inflammation of the large intestine | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
101719 | F | 210022 | - | Iranian | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.1(P4)]; PMID:25539626 [Fam.P1:II.2(P2)]; PMID:26707784 [P13] |
101726 | M | 210182![]() |
15 | Caucasian | Inflammation of the large intestine | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))] |
101772 | M | 210034 | 2 | Iranian | Crohn's disease | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17] |
101800 | M | 215769![]() |
- | Caucasian | Inflammation of the large intestine | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
101857 | M | 211737 | - | Crohn's disease | PMID:34975878 [Fam.F319:P319] | ||
101875 | F | 210086 | 3 | Crohn's disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34390440 [CMC19] | |
101987 | F | 214115 | - | Inflammation of the large intestine | PMID:34390440 [NEG094] | ||
103281 | F | 215111![]() |
0 | Chinese (China) | Crohn's disease | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
104532 | M | 215544![]() |
- | Caucasian | Inflammation of the large intestine | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.A:II.1(Patient A)] |
104635 | M | 215561![]() |
- | Crohn's disease | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.D:II.1(P4)] | |
104666 | M | 215567![]() |
10 | French | Crohn's disease | Immunodeficiency 107 | PMID:35587511 [Fam.F:II.1(3)]; PMID:38914362 [Fam.L:II.1(102)] |
104773 | F | 215572![]() |
- | French | Inflammation of the large intestine | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104838 | M | 215578![]() |
- | Caucasian | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104886 | F | 215613![]() |
- | Caucasian | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
- | Caucasian | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
104923 | M | 215620![]() |
- | Inflammation of the large intestine | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
104953 | F | 215622![]() |
47 | Dutch | Inflammation of the large intestine | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
105043 | F | 215630![]() |
- | Caucasian | Inflammation of the large intestine | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105149 | M | 215654![]() |
18 | Chinese (China) | Crohn's disease | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105273 | F | 215682 | - | North American | Inflammation of the large intestine | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105348 | M | 215710 | 28 | Inflammation of the large intestine | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
105355 | M | 215717 | 0 | Caucasian | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
105385 | M | 215736 | - | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:29183106 [P7] | |
105412 | F | 215762![]() |
27 | Caucasian | Inflammation of the large intestine | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
105740 | U | 215845 | - | Inflammation of the large intestine | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105751 | M | 215854 | - | Inflammation of the large intestine | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105775 | F | 215868 | 31,- | German | Crohn's disease,Inflammation of the large intestine | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105780 | F | 215873 | - | German | Inflammation of the large intestine | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105794 | M | 215878![]() |
- | Spanish | Crohn's disease | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.2:II.1(2.1)] |
105834 | F | 211470![]() |
- | Inflammation of the large intestine | PMID:33486103 [Fam.1:II.4(sister2)]; PMID:150198 [Fam.DT:II.4(513)] | ||
105910 | F | 215905 | - | Caucasian | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105985 | F | 215920 | - | Japanese | Inflammation of the large intestine | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)] |
106043 | F | 215928 | - | Afro-American | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
106169 | F | 215968 | - | Turkish | Crohn's disease | Immunodeficiency, common variable, 8 | PMID:31432443 [P13] |
106287 | F | 215979![]() |
- | Caucasian | Inflammation of the large intestine | PMID:150198 [Fam.FZ:II.3(791)]; PMID:38593810 [Fam.6:I.3] | |
106393 | F | 216006![]() |
9 | German | Crohn's disease | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106604 | M | 216088![]() |
- | Afro-American | Inflammation of the large intestine | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.2:II.4(P7)] |
106618 | F | 216090![]() |
- | Ashkenazi Jewish | Inflammation of the large intestine | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.3:II.1(P9)] |
106630 | M | 216093![]() |
- | Ashkenazi Jewish | Inflammation of the large intestine | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:II.1(P16)] |
106641 | F | 216096![]() |
- | Danish | Crohn's disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [Fam.P3:III.1(daughter)] |
106713 | F | 215871![]() |
- | Spanish | Crohn's disease | PMID:150198 [Fam.DM:I.2(471)]; PMID:36105815 [Fam.G386R:I.2(G386R/3)] | |
106787 | M | 216138 | - | Inflammation of the large intestine | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
106816 | F | 216162 | 8 | Inflammation of the large intestine | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106832 | M | 216164 | 4 | Crohn's disease | Immunodeficiency, common variable, 8 | PMID:30479033 [Patient] | |
107097 | F | 216333![]() |
6 | Japanese | Inflammation of the large intestine | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
107225 | M | 216381![]() |
0 | Vietnamese | Inflammation of the large intestine | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:36503158 [Patient(III.3)] |
107245 | M | 216394![]() |
2 | Caucasian | Crohn's disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).