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

TERM

Crohn's disease

CHILD terms

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 212603tree icon 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 210182tree icon 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 215769tree icon - 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 215111tree icon 0 Chinese (China) Crohn's disease Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.1:II.2(P1)]
104532 M 215544tree icon - Caucasian Inflammation of the large intestine X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.A:II.1(Patient A)]
104635 M 215561tree icon - Crohn's disease X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.D:II.1(P4)]
104666 M 215567tree icon 10 French Crohn's disease Immunodeficiency 107 PMID:35587511 [Fam.F:II.1(3)]; PMID:38914362 [Fam.L:II.1(102)]
104773 F 215572tree icon - French Inflammation of the large intestine Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.7]
104838 M 215578tree icon - 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 215613tree icon - 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 215613tree icon - 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 215620tree icon - Inflammation of the large intestine Immunodeficiency, common variable, 14 PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)]
104953 F 215622tree icon 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 215630tree icon - 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 215654tree icon 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 215762tree icon 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 215878tree icon - Spanish Crohn's disease Immunodeficiency, common variable, 14 PMID:37876937 [Fam.2:II.1(2.1)]
105834 F 211470tree icon - 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 215979tree icon - Caucasian Inflammation of the large intestine PMID:150198 [Fam.FZ:II.3(791)]; PMID:38593810 [Fam.6:I.3]
106393 F 216006tree icon 9 German Crohn's disease CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106604 M 216088tree icon - Afro-American Inflammation of the large intestine Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.2:II.4(P7)]
106618 F 216090tree icon - Ashkenazi Jewish Inflammation of the large intestine Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.3:II.1(P9)]
106630 M 216093tree icon - Ashkenazi Jewish Inflammation of the large intestine Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.6:II.1(P16)]
106641 F 216096tree icon - Danish Crohn's disease Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32047491 [Fam.P3:III.1(daughter)]
106713 F 215871tree icon - 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 216333tree icon 6 Japanese Inflammation of the large intestine Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.4:P4.1]
107225 M 216381tree icon 0 Vietnamese Inflammation of the large intestine Hemophagocytic lymphohistiocytosis, familial 5 PMID:36503158 [Patient(III.3)]
107245 M 216394tree icon 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).