Hepatomegaly

Basic details

Preferred term: Hepatomegaly
Alt. terms: Enlarged liver | liver enlargement | increased liver volume

HPO term: Hepatomegaly
HPO code: HP:0002240

GenIA ID: 401
Last updated on: 2023-04-03 12:10:34

Cross ref. with other ontologies

NCIT: C3100
MESH: D006529
EFO: -
OAE: -
SNOMEDCT: -
ICD10: R16.0

Description

abnormal enlargement of the liver

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101015 M 210203 - German Abnormal lymphoproliferation 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]
101017 F 210232 51 German Hepatomegaly PMID:34975878 [Fam.F003:P003]
101024 F 210927 43 Hepatopathy PMID:34975878 [Fam.F009:P009]
101037 M 210182tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)]
101038 F 210182tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)]
101040 F 210724tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101043 M 210725tree icon -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101045 M 210205tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)]
101051 F 210205tree icon 30,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]
101059 M 211386 - Hepatomegaly PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1]
101077 F 210211 24,- German Abnormal lymphoproliferation,Hepatomegaly PMID:34975878 [Fam.F043:P043]
101081 F 211315 46 Hepatopathy PMID:34975878 [Fam.F047:P047]
101082 F 211226 - Hepatomegaly Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F048:P048]
101091 M 210911 - Abnormal lymphoproliferation DiGeorge syndrome PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180]
101095 M 210286 4 Hepatomegaly PMID:34975878 [Fam.F060:P060]
101115 F 210778 38 Caucasian Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427]
101116 M 210282tree icon - German Abnormal lymphoproliferation Immunodeficiency, common variable, 1 PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005]
101118 F 210735 - Abnormal lymphoproliferation Thrombophilia due to Factor V Leiden PMID:31057532 [Fam.C:II.1]
101119 M 210264 - Abnormal lymphoproliferation PMID:34975878 [Fam.F070:P070]
101120 M 210221 - German Abnormal lymphoproliferation PMID:34975878 [Fam.F071:P071]
101121 M 210784 46 German Hepatopathy PMID:34975878 [Fam.F072:P072]
101122 M 210197tree icon 23 Italian Abnormal lymphoproliferation NFKB1 insufficiency PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)]
101123 M 210255 - Abnormal lymphoproliferation PMID:34975878 [Fam.F074:P074]
101127 F 210318 46 German Hepatopathy PMID:34975878 [Fam.F077:P077]
101128 M 210897 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07]
101150 F 210736 7,- Abnormal lymphoproliferation,Hepatomegaly Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F093:P093]
101155 M 210235 - German Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098]
101194 M 212378 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 1 PMID:34390440 [HIES49]
101199 F 211483 -,- German Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122]
101228 M 210205tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))]
101260 M 212144 7 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14]
101313 F 212149 13,10 Lebanese Hepatomegaly,Hepatopathy Immunodeficiency, common variable, 8 PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17]
101328 M 212151 - Moroccan Hepatomegaly Immunodeficiency, common variable, 8 PMID:28473463 [Fam.2:II.1(2.2)]
101336 M 212152 -,- Omani Abnormal lymphoproliferation,Hepatomegaly Immunodeficiency, common variable, 8 PMID:28473463 [Fam.3 :II.1]
101369 M 212161 - Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:30479781 [P1(V.1)]
101371 M 212161 - Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:30479781 [Fam.P1:V.2(P2)]
101375 F 212162 3 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8]
101376 F 212162 - Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9]
101379 M 212163 - Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10]
101391 F 211018 - Hepatomegaly PMID:34975878 [Fam.F137:P137]
101395 M 212167 - Egyptian Hepatopathy Immunodeficiency, common variable, 8 PMID:27683652 [P1(II.1)]
101401 F 210205tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)]
101408 M 212168 5 Hepatomegaly Immunodeficiency, common variable, 8 PMID:27057999 [Fam.II.2:II.1]
101416 M 212169 7 Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:27146671 [Patient(II.1)]
101421 F 212170 6 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15]
101424 M 212172 8 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13]
101425 M 210205tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)]
101426 M 212173 3 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7]
101435 F 212171 4 Lebanese Hepatomegaly Immunodeficiency, common variable, 8 PMID:26707784 [P29(II.1)]
101458 F 210656tree icon -,- Georgian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)]
101461 M 210929 -,- German Hepatomegaly,Hepatopathy 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]
101462 M 210006 11 Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F154:P154]
101469 F 210220tree icon -,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)]
101473 F 212398 1 Spanish Hepatomegaly Immunodeficiency, common variable, 8 PMID:30386343 [Patient(II.1)]
101479 F 210314tree icon -,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)]
101488 M 210401tree icon -,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16]
101553 M 210256 - German Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F182:P182]
101569 F 210220tree icon -,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023]
101578 M 210205tree icon -,- German Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)]
101613 F 210737 6 Abnormal lymphoproliferation PMID:34975878 [Fam.F210:P210]
101669 M 211549 - Hepatomegaly PMID:34975878 [Fam.F234:P234]
101717 F 210260tree icon -,7 Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]
101722 F 210261tree icon - Asian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)]
101726 M 210182tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))]
101744 F 210182tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)]
101753 M 210024 - Japanese Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.1(P10)]
101755 M 210025 12 North American Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
101764 F 210031 - Dutch Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.656:P19]
101767 F 210788 49 Hepatopathy PMID:34975878 [Fam.F249:P249]
101772 M 210034 - Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17]
101775 M 210908tree icon - Argentinian Hepatomegaly Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P9:II.2(P10)]
101777 F 210920 - Libyan Hepatomegaly Immunodeficiency, common variable, 8 PMID:26745254 [P1(II.1)]
101788 M 210950tree icon - Swiss Hepatomegaly Adenosine deaminase 2 deficiency PMID:28493328 [P7(II.1)]
101789 M 210950tree icon - Swiss Hepatomegaly Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P7:II.2(P8)]
101792 M 210991 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.11(NN.II.9(92))]
101797 M 211108 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258]
101799 M 211120 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)]
101800 M 215769tree icon - Caucasian Abnormal lymphoproliferation 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)]
101808 F 211441 - Hepatomegaly Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F265:P265]
101813 F 211525 - Hepatomegaly PMID:34975878 [Fam.F273:P273]
101871 F 210078 - Turkish Hepatomegaly Immunodeficiency 103, susceptibility to fungal infection PMID:34390440 [CMC03]
101959 M 210641 41 German Hepatomegaly Immunodeficiency, common variable, 1 PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)]
102065 M 214285 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES23]
102092 F 214311 - Hepatomegaly Hyper-IgE recurrent infection syndrome 1 PMID:34390440 [HIES48]
102116 M 212357 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES05]
102121 M 214345 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES16]
102157 F 214681 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.R:II.5(45)]
102175 M 210725tree icon -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102180 F 214912 - Chinese (China) Hepatomegaly Severe combined immunodeficiency 9A, T-B- PMID:26476733 [P7]
102222 M 214917 57,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102224 F 214919 - German Abnormal lymphoproliferation DiGeorge syndrome PMID:35486341 [P017]
102509 M 214948tree icon 2 Irish Traveller Hepatomegaly Immunodeficiency 54 PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)]
102637 M 214972tree icon 24 Abnormal lymphoproliferation Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.4:II.2(P4)]
102786 F 214988tree icon - Turkish Hepatopathy Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
103076 F 215099tree icon 2 Omani Hepatomegaly Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103454 M 215130tree icon 3 Saudi Hepatomegaly infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.2:II.2(P2)]
103541 M 215155tree icon - Mexican Hepatomegaly ARPC1B deficiency PMID:36708766 [Fam.B:II.1(P4)]
103834 F 215257tree icon - European Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.2:II.3(P2)]
103839 M 215258tree icon - European Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.3:II.3(P3)]
103844 F 215259tree icon - European Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.4:II.2(P4)]
103848 M 215260tree icon - European Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.5:II.1(P5)]
103851 M 215261tree icon - British Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.6:II.2(P6)]
103859 M 215263tree icon - Turkish Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5]
104229 F 215420tree icon 42 German Hepatomegaly Polycystic liver disease 5 with or without kidney disease PMID:36478640 [II.3(II.3)]
104392 F 215520tree icon - French Hepatomegaly Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104540 M 215549tree icon - North African Abnormal lymphoproliferation X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104568 F 215551tree icon - Pakistani Hepatomegaly Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)]
104607 M 215556tree icon - Hepatomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104630 M 215560tree icon - Hepatomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.C:II.2(P3)]
104642 F 215562 1 Iraqi Hepatomegaly Immunodeficiency 91 and hyperinflammation PMID:33872655 [Fam.A:II.1(P1.1)]
104671 F 215568tree icon - Lebanese Hepatomegaly Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104787 M 215573tree icon - Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)]
104790 M 215574tree icon - Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]
104791 M 215575tree icon - Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104838 M 215578tree icon - Caucasian Abnormal lymphoproliferation 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]
104845 F 215579tree icon -,- European Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)]
104847 M 215581 0,0 Egyptian Abnormal lymphoproliferation,Hepatomegaly Omenn syndrome 2 PMID:30307608 [2]
104848 F 215582 0 Egyptian Hepatomegaly Omenn syndrome 2 PMID:30307608 [3]
104849 F 215583 0 Egyptian Hepatomegaly Omenn syndrome 2 PMID:30307608 [4]
104850 M 215584 0 Egyptian Abnormal lymphoproliferation Omenn syndrome 2 PMID:30307608 [5]
104851 M 215585 0,0 Egyptian Abnormal lymphoproliferation,Hepatomegaly Omenn syndrome 3 PMID:30307608 [6]
104855 F 215589 0 Egyptian Hepatomegaly Omenn syndrome 3 PMID:30307608 [7]
104858 M 215592 1 Egyptian Abnormal lymphoproliferation Severe combined immunodeficiency 9B, T-B- PMID:30307608 [11]
104879 F 215606 0 Egyptian Abnormal lymphoproliferation Severe combined immunodeficiency 9A, T-B- PMID:30307608 [25]
104881 F 215608 - Egyptian Hepatomegaly Severe combined immunodeficiency 10A, T-B+ PMID:30307608 [27]
104886 F 215613tree icon -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly 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 Abnormal lymphoproliferation,Hepatomegaly 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)]
105043 F 215630tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105046 M 215632tree icon 6 Abnormal lymphoproliferation Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Fam.1:II.1(Patient 1)]
105057 F 215635tree icon 26 German Abnormal lymphoproliferation NFKB1 insufficiency PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)]
105088 M 215638 - Japanese Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]
105093 F 215639tree icon - Israeli Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)]
105105 F 215643tree icon 18 Caucasian Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)]
105142 M 210314tree icon - German Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)]
105143 F 215650 - German Hepatomegaly NFKB1 insufficiency PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005]
105172 M 215659 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)]
105175 M 215660 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)]
105176 F 215661 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)]
105177 M 215661 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)]
105179 F 215661 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]
105180 M 215662 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)]
105212 F 215666tree icon - Finnish Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)]
105249 M 215676 3 Turkish Abnormal lymphoproliferation Immunodeficiency, common variable, 8 PMID:28956255 [Fam.P2:II.2]
105254 F 215679 - Hepatomegaly Severe combined immunodeficiency 9A, T-B- PMID:25516070 [Pt1]
105256 F 210008tree icon -,- German Hepatomegaly,Hepatopathy PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)]
105280 M 215685tree icon - European Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)]
105301 M 215686tree icon - European Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)]
105302 M 215686tree icon - European Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)]
105313 M 215688tree icon 7 European Abnormal lymphoproliferation NFKB1 insufficiency PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)]
105335 U 215697 - European Hepatopathy NFKB1 insufficiency PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288]
105336 M 215698 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)]
105353 F 215715 10 Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:26686526 [P1]
105361 F 215701tree icon - Pakistani Hepatomegaly Immunodeficiency 87 PMID:31308374 [Fam.A:III.3(P2)]
105363 F 215722 - Afro-American Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]
105370 F 215725 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)]
105388 M 215739 - Abnormal lymphoproliferation Immunodeficiency, common variable, 8 PMID:31238161 [Fam.F1:P1]
105406 M 215757 3 Hepatomegaly Immunodeficiency, common variable, 8 PMID:31876783 [Patient 1]
105412 F 215762tree icon -,- Caucasian Hepatomegaly,Hepatopathy 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)]
105424 M 215766tree icon -,- Admixed Abnormal lymphoproliferation,Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)]
105428 M 215766tree icon -,- Admixed Abnormal lymphoproliferation,Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)]
105458 M 215771tree icon - Caucasian Hepatopathy NFKB1 insufficiency PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210]
105533 M 215791 - Portuguese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29225858 [Patient(I.1)]
105546 M 215800tree icon - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))]
105549 F 215801 11 Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105564 M 215807tree icon 3 Spanish Abnormal lymphoproliferation 4q24 deletion syndrome PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)]
105573 U 215812 - Hepatomegaly Activated p110-delta syndrome 1 PMID:24698326 [P4]
105635 F 215829 9 Caucasian Abnormal lymphoproliferation Activated p110-delta syndrome 1 PMID:26371693 [1]
105671 M 215837tree icon - Spanish Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)]
105714 M 211370tree icon -,- Turkish Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)]
105731 F 215843 - Russian Hepatomegaly NFKB1 insufficiency PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424]
105740 U 215845 -,- Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425]
105741 F 215846 -,- Indian Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426]
105742 F 215847 -,- Brasilian Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428]
105744 M 215849 - Hepatomegaly NFKB1 insufficiency PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433]
105745 M 215850 - Hepatomegaly NFKB1 insufficiency PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434]
105747 F 215852tree icon -,- Dutch Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)]
105750 M 215853 16,- North American Abnormal lymphoproliferation,Hepatomegaly NFKB1 insufficiency PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436]
105752 M 215855 - Russian Hepatomegaly NFKB1 insufficiency PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438]
105755 F 215858 - Russian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441]
105756 F 215859 - Portuguese Hepatomegaly NFKB1 insufficiency PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442]
105758 M 215861 - Iranian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1]
105762 F 215863 - Iranian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446]
105773 M 215866 - German Abnormal lymphoproliferation NFKB1 insufficiency PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V]
105776 M 215869 - Iranian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1]
105780 F 215873 -,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475]
105859 F 215894tree icon 46 British Abnormal lymphoproliferation Immunodeficiency, common variable, 2 | NFKB1 insufficiency PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)]
105899 F 215900tree icon 4 North American Abnormal lymphoproliferation NFKB1 insufficiency PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)]
105907 M 215904 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.J:II.1(J.II.1 (32))]
105910 F 215905 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))]
105926 M 215909 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)]
105957 M 215914 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.P:II.2(P.II.2 (43))]
105973 F 215917 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1]
105974 M 215918 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:35087518 [Fam.15:I.1(15.1)]
105976 M 215918 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)]
105977 F 215918 -,- Japanese Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)]
105978 F 215918 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:35087518 [Fam.15:II.3(15.4)]
105981 M 215919 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))]
105985 F 215920 - Japanese Abnormal lymphoproliferation 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)]
105986 F 215921tree icon 47 Abnormal lymphoproliferation NFKB1 insufficiency PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)]
105999 F 215922tree icon - Hepatomegaly NFKB1 insufficiency PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)]
106000 M 215922tree icon - Abnormal lymphoproliferation NFKB1 insufficiency PMID:150198 [Fam.FH:III.2(641)]; PMID:36203612 [Fam.2:III.2(2.III.2)]
106023 M 215923 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)]
106036 F 215924 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1]
106041 M 215926 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))]
106042 M 215927 - North American Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))]
106044 F 215929 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]
106047 F 215930 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))]
106057 F 210991 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]
106060 F 210991 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))]
106068 M 215931 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))]
106069 F 215932 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))]
106070 F 215933 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))]
106094 M 215947 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]
106097 M 215948 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))]
106099 M 210955 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]
106105 M 215950 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))]
106109 M 215952tree icon - Iranian Abnormal lymphoproliferation NFKB1 insufficiency PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))]
106242 F 215977 - Caucasian Hepatopathy PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)]
106246 F 215977 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)]
106251 M 215977 -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)]
106259 F 215977 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)]
106274 M 215977 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.IV.2:IV.11(IV.7)]
106313 F 215982 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [P1]
106314 M 215983 - Caucasian Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [P2]
106348 M 215995 62 Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [CO.I.1(I.1)]; PMID:34111452 [CO.I.1 (173)]
106363 F 216001tree icon 0 Argentinian Hepatomegaly Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106371 M 216004 22 Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)]
106448 F 216016tree icon - Japanese Hepatomegaly Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)]
106495 F 216045 2 Hepatomegaly Immunodeficiency, common variable, 8 PMID:33178652 [Patient]
106547 M 216075tree icon - Dutch Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)]
106555 M 216078tree icon -,- Caucasian Abnormal lymphoproliferation,Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)]
106562 M 216079tree icon - Caucasian Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.B:IV.1(P3)]
106577 F 216081tree icon - Caucasian Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.D:II.2(P6)]
106592 M 216085 16 Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.A:II.1(P1)]
106636 F 216095 - Iranian Abnormal lymphoproliferation Activated p110-d syndrome 2 PMID:31117086 [P34]
106669 M 216103 - Hepatopathy NFKB1 insufficiency PMID:150198 [Fam.EE:565]; PMID:35281075 [5]
106697 F 216110 - Japanese Abnormal lymphoproliferation CTLA4 haploinsufficiency with autoimmune infiltration PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1]
106812 F 216158 15 Abnormal lymphoproliferation Immunodeficiency, common variable, 14 PMID:39059757 [P4]
106816 F 216162 - Hepatomegaly Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106819 M 216163tree icon - Chinese (China) Abnormal lymphoproliferation Immunodeficiency, common variable, 1 PMID:36571238 [Fam.2:II.2(II:2[P3])]
106875 F 216179 - Japanese Hepatomegaly Adenosine deaminase 2 deficiency PMID:33529688 [Fam.4:II.3(P6)]
106892 M 216183 - Caucasian Hepatomegaly Immunodeficiency, common variable, 17 PMID:27231034 [Fam.F1:III.3(P1.1)]
106912 F 216186 49 Abnormal lymphoproliferation Immunodeficiency, common variable, 8 PMID:39289195 [Patient(II.2)]
106956 M 216197 -,- Abnormal lymphoproliferation,Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P12]
106958 M 216199 - Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P14]
107045 M 216284 - Hepatopathy Activated p110-delta syndrome 1 PMID:28428270 [P1]
107096 F 216332 2 Japanese Hepatopathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P3]
107100 M 216334tree icon 2 Japanese Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.5:II.1(P5.1)]
107107 M 216336 - Hepatopathy Hyper-IgE recurrent infection syndrome 1 PMID:33864888 [S097]
107110 M 216339tree icon 4 Indian Hepatomegaly Autoinflammation with episodic fever and immune dysregulation PMID:38609546 [P1(IV.2)]
107212 F 216374 4 Arab Hepatomegaly Combined immunodeficiency 37 PMID:31775018 [Patient]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).