Immune Diseases Category (2023 diseases)


Including: Immune, Spleen, Lymph, Bone marrow, Thymus, Antibodies, Allergy
See other categories (disease lists)

# Family MCID Name MIFTS
1 c LKM071 Leukemia, Chronic Lymphocytic 81
2 LYM133 Lymphoma, Hodgkin, Classic 70
3 c LYM144 Lymphatic Malformation 1 47
4 IMM078 Immunodeficiency 21 41
5 MCR193 Microcystic Lymphatic Malformation 21
6 SCH016 Schimke Immunoosseous Dysplasia 52
7 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64
8 IMM102 Immunodeficiency 14 54
9 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 21
10 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 38
11 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 22
12 LYM143 Lymphoma, Non-Hodgkin, Familial 74
13 P NJM001 Nijmegen Breakage Syndrome 70
14 MNT001 Mantle Cell Lymphoma 69
15 LYM007 Lymphangioleiomyomatosis 67
16 SPC022 Specific Antibody Deficiency 22
17 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 29
18 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 37
19 LYM122 Lymphangiectasia, Pulmonary, Congenital 27
20 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 28
21 ANG046 Angioimmunoblastic T-Cell Lymphoma 49
22 LYM048 Lymphoma, Large-Cell, Immunoblastic 30
23 IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 59
24 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 13
25 ALL003 Allergic Rhinitis 69
26 c PRM226 Primary Central Nervous System Lymphoma 50
27 P BCL017 B-Cell Lymphoma 61
28 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 25
29 WND002 Wandering Spleen 22
30 P ANP001 Anaplastic Large Cell Lymphoma 62
31 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 33
32 CMB056 Combined Immunodeficiency with Skin Granulomas 12
33 P FLL037 Follicular Lymphoma 67
34 LYM040 Lymphoblastic Lymphoma 54
35 JK3001 Jak3-Deficient Severe Combined Immunodeficiency 30
36 WRM004 Warm Antibody Hemolytic Anemia 20
37 CMB088 Combined Immunodeficiency Due to Partial Rag1 Deficiency 10
38 c LKM060 Leukemia, Acute Lymphoblastic 3 57
39 DFF005 Diffuse Large B-Cell Lymphoma 56
40 IMM064 Immunodeficiency, Common Variable, 10 51
41 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
42 P LYM118 Lymphoma 70
43 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 57
44 P CTN015 Cutaneous T Cell Lymphoma 52
45 GST027 Gastric Lymphoma 49
46 c PRM158 Primary Intestinal Lymphangiectasia 30
47 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 22
48 PST046 Post-Transplant Lymphoproliferative Disease 55
49 ECT109 Ectodermal Dysplasia and Immunodeficiency 2 29
50 IMM023 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 27
51 PRM042 Primary Effusion Lymphoma 55
52 ENT008 Enteropathy-Associated T-Cell Lymphoma 38
53 IMM062 Immunodeficiency 11 31
54 ABD007 Abdominal Cystic Lymphangioma 16
55 PRP036 Peripheral T-Cell Lymphoma 53
56 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41
57 IMM191 Immunodeficiency 56 27
58 c LYM149 Lymphatic Malformation 6 26
59 DFF027 Diffuse Lymphatic Malformation 21
60 CNG101 Congenital Human Immunodeficiency Virus 19
61 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 15
62 P GRS003 Griscelli Syndrome 51
63 c GRS014 Griscelli Syndrome, Type 2 48
64 BNM001 Bone Marrow Cancer 48
65 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 46
66 INT054 Intraocular Lymphoma 45
67 IMM080 Immunodeficiency 23 36
68 TBS010 T-B- Severe Combined Immunodeficiency 25
69 IMM074 Immunodeficiency 16 25
70 IMM075 Immunodeficiency 22 25
71 MRG003 Marginal Zone B-Cell Lymphoma 55
72 P ALL008 Allergic Bronchopulmonary Aspergillosis 50
73 CYS002 Cystic Lymphangioma 47
74 IMM070 Immunodeficiency 13 32
75 IMM142 Immunodeficiency 50 24
76 ORB020 Orbital Lymphoma 24
77 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
78 c LKM056 Leukemia, Chronic Lymphocytic 2 49
79 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 49
80 LYM009 Lymphocytic Choriomeningitis 45
81 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 44
82 CHL073 Cholestasis-Lymphedema Syndrome 35
83 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 30
84 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 28
85 GST107 Gastric Non-Hodgkin Lymphoma 12
86 YLL001 Yellow Nail Syndrome 47
87 TCL002 T-Cell Large Granular Lymphocyte Leukemia 46
88 IMM166 Immunodeficiency 27a 39
89 c LYM147 Lymphatic Malformation 3 23
90 IMM030 Immunodeficiency, Common Variable, 3 22
91 DFN299 Deafness-Lymphedema-Leukemia Syndrome 21
92 HMN044 Human Immunodeficiency Virus Type 1 73
93 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 58
94 P LYM031 Lymphocytic Leukemia 56
95 c FLL041 Follicular Lymphoma 1 50
96 PLS025 Plasmablastic Lymphoma 48
97 IMM038 Immunodeficiency, Common Variable, 1 34
98 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 34
99 P LYM124 Lymphangiectasia, Intestinal 31
100 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 25
101 ZP7001 Zap70-Related Severe Combined Immunodeficiency 21
102 c LYM148 Lymphatic Malformation 4 21
103 ACQ007 Acquired Immunodeficiency Syndrome 61
104 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 45
105 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 41
106 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 38
107 IMM065 Immunodeficiency 10 33
108 ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 31
109 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 30
110 IMM066 Immunodeficiency 9 29
111 IMM077 Immunodeficiency 20 25
112 IMM190 Immunodeficiency 55 24
113 IMM025 Immunoglobulin a Deficiency 2 20
114 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 14
115 PCM003 Pauci-Immune Glomerulonephritis Without Anca 10
116 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 67
117 SPL004 Splenic Marginal Zone Lymphoma 48
118 IMM034 Immunodeficiency, Common Variable, 2 40
119 IMM068 Immunodeficiency 8 30
120 IMM138 Immunodeficiency 32b 29
121 IMM186 Immunodeficiency 27b 23
122 IMM035 Immunodeficiency, Common Variable, 4 22
123 IMM032 Immunodeficiency, Common Variable, 5 18
124 IMM037 Immunodeficiency, Common Variable, 6 18
125 CNM001 Canomad Syndrome 17
126 MYC006 Mycosis Fungoides 67
127 P CNT005 Central Nervous System Lymphoma 52
128 FLR001 Filarial Elephantiasis 51
129 P LYM127 Lymphatic Malformations 44
130 KMR001 Kimura Disease 43
131 P PRM293 Primary Mediastinal B-Cell Lymphoma 41
132 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 35
133 CRB001 Cerebral Lymphoma 34
134 BRS001 Breast Lymphoma 34
135 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 33
136 GRY001 Gray Zone Lymphoma 31
137 c BNM010 Bone Marrow Failure Syndrome 1 30
138 SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 27
139 IMM199 Immunodeficiency 60 24
140 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 20
141 LTT006 Littoral Cell Angioma of the Spleen 20
142 IMM130 Immunoneurologic Disorder, X-Linked 16
143 P LKM062 Leukemia, Acute Lymphoblastic 68
144 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53
145 LYM022 Lymphangioma 52
146 LYM138 Lymphoblastic Leukemia, Acute, with Lymphomatous Features 49
147 CLD007 Cold Agglutinin Disease 47
148 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 47
149 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 40
150 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 40
151 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 39
152 LYM042 Lymphocytic Colitis 39
153 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 38
154 LNG013 Lung Lymphoma 38
155 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 35
156 TST004 Testicular Lymphoma 34
157 IMM039 Immune Hydrops Fetalis 34
158 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 33
159 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 32
160 LYM126 Lymphoma Aids Related 32
161 IMM071 Immunodeficiency 12 27
162 CHL151 Childhood Non-Hodgkin Lymphoma 24
163 c TCL008 T-Cell Lymphoma 1a 22
164 IND005 Indolent B Cell Lymphoma 21
165 HDG009 Hodgkin Lymphoma, Childhood 20
166 c LKM055 Leukemia, Acute Lymphoblastic 2 17
167 TRN073 Trnt1 Deficiency 16
168 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 15
169 c ANP011 Anaplastic Small Cell Lymphoma 13
170 TCL006 T Cell Immunodeficiency Primary 12
171 LYM027 Lymphopenia 58
172 ALL009 Allergic Conjunctivitis 50
173 RDD003 Riddle Syndrome 46
174 ASP026 Asplenia, Isolated Congenital 45
175 CHN040 Choanal Atresia and Lymphedema 36
176 KKC001 Kikuchi Disease 34
177 RFM001 Roifman Syndrome 34
178 IMM179 Immunodeficiency 31c 33
179 IMM120 Immunodeficiency 40 30
180 IMM177 Immunodeficiency 54 29
181 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 28
182 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 27
183 CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 26
184 IMM076 Immunodeficiency 24 24
185 IMM150 Immunodeficiency 52 22
186 TCL022 T-Cell Receptor-Alpha/beta Deficiency 22
187 IMM058 Immunodeficiency, Common Variable, 7 21
188 DCK002 Dock8 Immunodeficiency Syndrome 20
189 IMM135 Immunodeficiency 46 20
190 LRB003 Lrba Deficiency 20
191 IMM140 Immunodeficiency 47 20
192 IMM079 Immunodeficiency, Common Variable, 11 19
193 IMM051 Immunotactoid or Fibrillary Glomerulopathy 15
194 LYM019 Lymphosarcoma 48
195 c PRM327 Primary Lymphedema 39
196 NDL024 Nodal Marginal Zone Lymphoma 37
197 P BNL002 Bone Lymphoma 33
198 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 32
199 IMM096 Immunodeficiency 30 31
200 IMM143 Immunodeficiency 48 30
201 c LYM151 Lymphoproliferative Syndrome 3 30
202 IMM180 Immunodeficiency 28 27
203 IMM183 Immunodeficiency 32a 26
204 IMM181 Immunodeficiency 29 25
205 IMM088 Immunodeficiency 36 24
206 IMM182 Immunodeficiency 31a 24
207 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 21
208 c LYM146 Lymphatic Malformation 2 16
209 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
210 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 9
211 P LYM025 Lymphedema 54
212 LYM051 Lymphomatoid Granulomatosis 47
213 LYM004 Lymphoid Interstitial Pneumonia 46
214 SML008 Small Intestine Lymphoma 37
215 BLS007 Blastic Plasmacytoid Dendritic Cell 37
216 INT221 Intravascular Large B-Cell Lymphoma 36
217 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 35
218 MDS019 Mediastinal Malignant Lymphoma 35
219 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 33
220 PRS002 Prostate Lymphoma 29
221 ORB009 Orbit Lymphoma 29
222 RTN011 Retina Lymphoma 25
223 FCL083 Ficolin 3 Deficiency 25
224 CPL002 Capillary Lymphangioma 25
225 CHS005 Chest Wall Lymphoma 24
226 IMM134 Immunodeficiency, Common Variable, 13 24
227 IMM133 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 23
228 NSL004 Nasal Cavity Lymphoma 23
229 HRT003 Heart Lymphoma 23
230 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 22
231 IMM147 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 22
232 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 21
233 ALK017 Alk-Positive Large B-Cell Lymphoma 20
234 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 20
235 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 19
236 CLN010 Colonic Lymphangioma 19
237 DBT018 Diabetic Mastopathy 18
238 IMM137 Immunodeficiency with Thymoma 18
239 TRC018 Tracheal Lymphoma 18
240 LYM123 Lymphedema-Hypoparathyroidism Syndrome 18
241 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 17
242 HYD045 Hydroa Vacciniforme-Like Lymphoma 16
243 PRN002 Paranasal Sinus Lymphoma 15
244 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
245 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 14
246 STR014 Sternum Lymphoma 13
247 c LKM052 Leukemia, Chronic Lymphocytic 5 13
248 c LKM053 Leukemia, Chronic Lymphocytic 4 12
249 URT017 Ureteral Lymphoma 11
250 LYM117 Lymphocytic Hypereosinophilic Syndrome 11
251 SVR011 Severe Combined Immunodeficiency, Atypical 10
252 ESP015 Esophagus Lymphoma 9
253 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
254 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
255 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
256 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
257 LMB060 Limbic Encephalitis with Dpp6 Antibodies 6
258 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
259 PCM004 Pauci-Immune Glomerulonephritis with Anca 5
260 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 36
261 LYM011 Lymphogranuloma Venereum 36
262 LYM094 Lymphedema, Primary, with Myelodysplasia 36
263 CMP001 Composite Lymphoma 33
264 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 27
265 BNM005 Bone Marrow Necrosis 26
266 IMM053 Immunotactoid Glomerulopathy 25
267 LMB053 Limbic Encephalitis with Lgi1 Antibodies 25
268 c EYL003 Eye Lymphoma 23
269 IMM118 Immunodeficiency 42 23
270 IMM194 Immunodeficiency 59 and Hypoglycemia 22
271 IMM103 Immunodeficiency 37 21
272 IMM141 Immunodeficiency 49 21
273 KPS005 Kaposiform Lymphangiomatosis 18
274 DHL001 Dahlberg Borer Newcomer Syndrome 8
275 IGR001 Ige Responsiveness, Atopic 61
276 IRK001 Irak4 Deficiency 51
277 CHR001 Churg-Strauss Syndrome 48
278 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 36
279 LYM043 Lymphocytic Hypophysitis 34
280 LYM035 Lymphangiectasis 33
281 IMM100 Immunoglobulin Kappa Light Chain Deficiency 32
282 LYM098 Lymphomatous Meningitis 31
283 c AST055 Asthma-Related Traits 1 31
284 P AST056 Asthma-Related Traits 2 31
285 c AST034 Asthma-Related Traits 4 29
286 UNC014 Unicentric Castleman Disease 26
287 NCR015 Necrotizing Autoimmune Myopathy 26
288 CMP075 Campomelia, Cumming Type 24
289 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 23
290 IMM085 Immunodeficiency 25 21
291 IMM198 Immunodeficiency 61 21
292 IMM123 Immunodeficiency 39 19
293 TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 18
294 IMM196 Immunodeficiency 15a 18
295 c AST057 Asthma-Related Traits 5 16
296 c AST032 Asthma-Related Traits 7 15
297 JSS002 Jessner Lymphocytic Infiltration of the Skin 14
298 c AST035 Asthma-Related Traits 6 12
299 c AST033 Asthma-Related Traits 3 12
300 LYM044 Lymphocytic Infiltrate of Jessner 11
301 IMM028 Immune-Mediated Encephalomyelitis 10
302 c AST036 Asthma-Related Traits 8 9
303 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
304 P GRF003 Graft-Versus-Host Disease 71
305 DYS164 Dyskeratosis Congenita, X-Linked 54
306 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 51
307 RSD004 Rosai-Dorfman Disease 49
308 LYM002 Lymphoplasmacyte-Rich Meningioma 40
309 C3G002 C3 Glomerulopathy 40
310 IMM001 Immune-Complex Glomerulonephritis 40
311 HPT070 Hepatosplenic T-Cell Lymphoma 39
312 P BCL004 B-Cell Non-Hodgkin Lymphoma 38
313 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 36
314 c PRM304 Primary Hemophagocytic Lymphohistiocytosis 36
315 WLD007 Waldenstroem's Macroglobulinemia 35
316 c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 35
317 PDT001 Pediatric Lymphoma 35
318 NDL020 Nodal Marginal Zone B-Cell Lymphoma 34
319 c CNG439 Congenital Lymphedema 33
320 DFF007 Diffuse Infiltrative Lymphocytosis Syndrome 33
321 c RRL003 Rare Lymphatic Malformation 32
322 IMM212 Immunodeficiency by Defective Expression of Mhc Class I 31
323 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 30
324 LVR006 Liver Lymphoma 30
325 IMM162 Immunoglobulin E Concentration, Serum 29
326 c ALP087 Alpha-Heavy Chain Disease 27
327 SVR055 Severe Immune-Mediated Enteropathy 24
328 IMM193 Immunodeficiency 58 24
329 ORB014 Orbital Lymphangioma 24
330 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 23
331 IMM119 Immunodeficiency, Common Variable, 12 22
332 GLL013 Gallbladder Lymphoma 21
333 MDS006 Mediastinal Gray Zone Lymphoma 20
334 c PRM151 Primary Bone Lymphoma 20
335 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 20
336 NKD001 Nik Deficiency 19
337 EPS047 Epstein-Barr Virus-Associated Malignant Lymphoproliferative Disorder 19
338 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 19
339 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
340 IMM200 Immunodeficiency 62 16
341 CVR008 Cavernous Lymphangioma 16
342 OBS810 Obsolete: Immunoproliferative Small Intestinal Disease 15
343 APP002 Appendix Lymphoma 15
344 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
345 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 14
346 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 13
347 CCM002 Cecum Lymphoma 13
348 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 13
349 HDG010 Hodgkin Lymphoma, During Pregnancy 13
350 RCT002 Rectum Lymphoma 12
351 NNH004 Non-Hodgkin Lymphoma, During Pregnancy 12
352 PGM026 Pgm3-Cdg 12
353 c LKM051 Leukemia, Chronic Lymphocytic 3 11
354 IMM157 Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 11
355 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 10
356 HYG001 Hygroma Cervical 10
357 TMR024 Tumor of Hematopoietic and Lymphoid Tissues 9
358 IMM168 Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes 9
359 OBS265 Obsolete: Circumscribed Lymphatic Malformation 9
360 KTZ001 Kotzot-Richter Syndrome 8
361 IMM215 Immunodeficiency-Associated Lymphoproliferative Disease 8
362 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 8
363 IRN005 Irons Bhan Syndrome 8
364 PRM142 Primary Oculocerebral Lymphoma 8
365 PRM148 Primary Lymphoma of the Conjunctiva 7
366 LYM140 Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 7
367 ANS007 Anus Lymphoma 6
368 MXD041 Mixed Cystic Lymphatic Malformation 6
369 IMM217 Immunodeficiency Predominantly Affecting Antibody Production 5
370 CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 5
371 LMB059 Limbic Encephalitis with Nmda Receptor Antibodies 5
372 IMM197 Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome 5
373 SPC020 Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells 4
374 LYM154 Lymphoproliferative Disease Associated with Primary Immune Disease 4
375 CYT016 Cytomegalovirus Disease in Patients with Impaired Cell Mediated Immunity Deemed at Risk 4
376 GNT145 Genetic Primary Lymphedema 4
377 OTH016 Other Immunodeficiency Syndrome with Predominantly Antibody Defects 3
378 SVR102 Severe Combined Immunodeficiency Due to Carmil2 Deficiency 3
379 OBS086 Obsolete: Limbic Encephalitis with Ncmags Antibodies 3
380 FLL038 Follicular Lymphoreticuloma 1
381 c INF071 Inflammatory Bowel Disease 1 66
382 P TXP001 Toxoplasmosis 61
383 HMN014 Human Immunodeficiency Virus Infectious Disease 56
384 PNM001 Pneumocystosis 53
385 HYR002 Hoyeraal Hreidarsson Syndrome 48
386 MNN034 Mannose-Binding Lectin Deficiency 46
387 CLL014 Cll/sll 44
388 LYM052 Lymphomatoid Papulosis 43
389 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 41
390 c INF092 Inflammatory Bowel Disease 9 38
391 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 38
392 c INF089 Inflammatory Bowel Disease 6 35
393 IMM044 Immunoglobulin G Deficiency 35
394 c INF086 Inflammatory Bowel Disease 3 34
395 LYM095 Lymphangiomatosis 33
396 c INF088 Inflammatory Bowel Disease 5 32
397 c INF087 Inflammatory Bowel Disease 4 31
398 NTR006 Neutrophil Immunodeficiency Syndrome 30
399 IMM149 Immunodeficiency 43 30
400 c INF078 Inflammatory Bowel Disease 2 29
401 IMM095 Immunodeficiency 35 29
402 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 28
403 c INF077 Inflammatory Bowel Disease 19 27
404 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 27
405 c INF075 Inflammatory Bowel Disease 16 27
406 c INF067 Inflammatory Bowel Disease 10 26
407 c INF090 Inflammatory Bowel Disease 7 26
408 c INF160 Inflammatory Bowel Disease 17 24
409 c HNN004 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 23
410 IMM195 Immunodeficiency 15b 22
411 c HNN006 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 22
412 c INF072 Inflammatory Bowel Disease 11 22
413 c INF079 Inflammatory Bowel Disease 20 21
414 c INF068 Inflammatory Bowel Disease 13 21
415 c INF073 Inflammatory Bowel Disease 12 20
416 IMM148 Immunodeficiency 44 20
417 c INF093 Inflammatory Bowel Disease 14 20
418 SPN425 Spondyloepimetaphyseal Dysplasia, Krakow Type 19
419 IMM188 Immunodeficiency, Developmental Delay, and Hypohomocysteinemia 19
420 IMM192 Immunodeficiency 57 19
421 c INF162 Inflammatory Bowel Disease 25 19
422 c INF170 Inflammatory Bowel Disease 29 18
423 c INF080 Inflammatory Bowel Disease 21 18
424 c INF085 Inflammatory Bowel Disease 27 18
425 c INF074 Inflammatory Bowel Disease 15 17
426 c INF083 Inflammatory Bowel Disease 24 17
427 c INF091 Inflammatory Bowel Disease 8 17
428 ZP7002 Zap-70 Deficiency 16
429 c INF076 Inflammatory Bowel Disease 18 16
430 c INF082 Inflammatory Bowel Disease 23 16
431 c INF081 Inflammatory Bowel Disease 22 15
432 c INF084 Inflammatory Bowel Disease 26 15
433 c INF161 Inflammatory Bowel Disease 28 15
434 IMM202 Immunodeficiency 64 15
435 c RRN022 Rare Inflammatory Bowel Disease 14
436 c CNG411 Congenital Disorder of Glycosylation, Type in 66
437 PLG002 Plague 54
438 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
439 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
440 MCR004 Macroglobulinemia 50
441 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
442 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
443 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
444 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 46
445 THY009 Thyroid Lymphoma 43
446 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
447 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
448 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
449 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
450 ALL014 Allergic Encephalomyelitis 40
451 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
452 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
453 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
454 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 39
455 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
456 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
457 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
458 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
459 PRN039 Paraneoplastic Syndromes 37
460 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
461 c CNG379 Congenital Disorder of Glycosylation, Type It 36
462 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 35
463 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
464 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
465 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
466 ALL007 Allergic Urticaria 34
467 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
468 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
469 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
470 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
471 BCL008 B-Cell Childhood Acute Lymphoblastic Leukemia 33
472 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
473 OVR021 Ovarian Lymphoma 32
474 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
475 c CNG188 Congenital Disorder of Glycosylation, Type if 30
476 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
477 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
478 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
479 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
480 PRN032 Paraneoplastic Cerebellar Degeneration 29
481 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
482 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
483 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 27
484 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
485 ALL012 Allergic Angiitis 25
486 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
487 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 23
488 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
489 IMM006 Immune System Organ Benign Neoplasm 21
490 SBC005 Subacute Lymphocytic Thyroiditis 20
491 INF173 Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy 18
492 IMM151 Immunodeficiency 53 16
493 IMM189 Immunodeficiency, Common Variable, 14 16
494 BCL016 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 15
495 IMM152 Immunodeficiency 45 14
496 c LYM141 Lymphoma, Hodgkin, X-Linked Pseudoautosomal 12
497 P DSR041 Disorder of Multiple Glycosylation 6
498 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 5
499 ACT002 Acute Allergic Serous Otitis Media 5
500 ACT025 Acute Allergic Sanguinous Otitis Media 5
501 ACT063 Acute Allergic Mucoid Otitis Media 5
502 P SRC025 Sarcoidosis 1 72
503 P HYP086 Hypothyroidism 70
504 c CNG006 Congenital Hypothyroidism 65
505 P NTR004 Neutropenia 64
506 c SYS004 Systemic Mastocytosis 63
507 P MST009 Mastocytosis 62
508 CYT008 Cytomegalovirus Infection 58
509 P SLM003 Salmonellosis 54
510 CHC001 Chickenpox 53
511 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 52
512 IRN008 Iron Overload in Africa 51
513 P PLM006 Pulmonary Alveolar Proteinosis 50
514 MNC006 Monoclonal Gammopathy of Uncertain Significance 50
515 SPL018 Splenomegaly 48
516 CMP042 Complement Factor H Deficiency 47
517 RCH001 Richter's Syndrome 47
518 AGG002 Aggressive Systemic Mastocytosis 43
519 c SRC023 Sarcoidosis 2 43
520 LGH004 Light Chain Deposition Disease 43
521 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 41
522 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 39
523 MLT001 Multiple Chemical Sensitivity 39
524 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 38
525 c TCL024 T-Cell Non-Hodgkin Lymphoma 37
526 CHR276 Chronic Active Epstein-Barr Virus Infection 37
527 IND016 Indolent B-Cell Non-Hodgkin Lymphoma 36
528 c PRM299 Primary Cutaneous B-Cell Lymphoma 36
529 c PRM301 Primary Cutaneous T-Cell Lymphoma 35
530 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 35
531 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 34
532 VRS001 Virus Associated Hemophagocytic Syndrome 34
533 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 34
534 c CNT101 Central Congenital Hypothyroidism 33
535 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 32
536 GST014 Gastrointestinal Lymphoma 31
537 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 30
538 c PRM316 Primary Congenital Hypothyroidism 30
539 PCM002 Pauci-Immune Glomerulonephritis 30
540 PST007 Post-Vaccinal Encephalitis 30
541 c ADL001 Adult Lymphoma 29
542 SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 25
543 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
544 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 25
545 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 24
546 MSP001 Masp2 Deficiency 24
547 c RRH009 Rare Hypothyroidism 24
548 MLL006 Mollaret Meningitis 24
549 c TRN047 Transient Congenital Hypothyroidism 24
550 AGG011 Aggressive B-Cell Non-Hodgkin Lymphoma 23
551 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 23
552 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 23
553 LYM053 Lymphomatous Thyroiditis 23
554 c SCN051 Secondary Pulmonary Alveolar Proteinosis 23
555 GLC081 Glucose Phosphate Isomerase Deficiency 21
556 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 21
557 LYM001 Lymphohistiocytoid Mesothelioma 21
558 c SRC024 Sarcoidosis 3 21
559 c NTR045 Neutropenia, Chronic Familial 20
560 IMM204 Immuno-Osseous Dysplasia 20
561 LCH010 Lichtenstein Syndrome 20
562 ATM023 Autoimmune Oophoritis 20
563 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 19
564 c CNG121 Congenital Pulmonary Alveolar Proteinosis 19
565 PRM314 Primary Cutaneous Lymphoma 18
566 P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18
567 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 18
568 PRM133 Primary Pulmonary Lymphoma 18
569 P MCR161 Macroglobulinemia, Waldenstrom 1 18
570 IMM169 Immunoerythromyeloid Hypoplasia 17
571 CMB095 Combined T and B Cell Immunodeficiency 17
572 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 16
573 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
574 RTR005 Retroperitoneal Lymphoma 16
575 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 16
576 WSS001 Wissler's Syndrome 16
577 IMM165 Immunoglobulin Switch Sequences 16
578 c SCN043 Secondary Intestinal Lymphangiectasia 16
579 c ACQ053 Acquired Neutropenia 14
580 NNS057 Non-Severe Combined Immunodeficiency 14
581 c ANT081 Antigen Defined by Monoclonal Antibody T87 13
582 AGN017 Agenesis of the Corpus Callosum and Congenital Lymphedema 12
583 RPP004 Rippling Muscle Disease with Myasthenia Gravis 12
584 NNT044 Neonatal Antiphospholipid Syndrome 12
585 IMM171 Immunodeficiency with Defective T-Cell Response to Interleukin 1 12
586 LYM100 Lymphoepithelial-Like Carcinoma 12
587 ISL032 Isolated Bone Marrow Mastocytosis 12
588 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 12
589 ZP7003 Zap70-Related Combined Immunodeficiency 11
590 MYL073 Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 11
591 ANT089 Anti-Pit-1 Antibody Syndrome 11
592 LYM139 Lymphokine Deficiency 11
593 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 10
594 CMB080 Combined Inflammatory and Immunologic Defect 10
595 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 10
596 IMM173 Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein 10
597 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 10
598 ALK005 Alk+ Histiocytosis 10
599 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 10
600 SYN136 Syndromic Lymphedema 10
601 IMM175 Immunoglobulin M, Level of 10
602 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 10
603 ALP049 Alopecia Antibody Deficiency 9
604 LYM137 Lymphoid System Deterioration, Progressive 9
605 SVR074 Severe Combined Immunodeficiency Due to Ikk2 Deficiency 9
606 LYM152 Lymphoid Hemopathy 9
607 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 9
608 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 9
609 ADN063 Adenovirus Infection in Immunocompromised Patients 8
610 GMM010 Gamma-a-Globulin, Defect in Assembly of 8
611 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
612 VLV048 Vulvovaginitis, Allergic Seminal 8
613 SYB001 Say Barber Miller Syndrome 8
614 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 8
615 IMM160 Immune Response to Synthetic Polypeptide--Irtgal 8
616 LYM136 Lymphoblastic Transformation, Intrinsic Defect in 8
617 c MCR162 Macroglobulinemia, Waldenstrom 2 7
618 P OBS777 Obsolete: Male Infertility with Impaired Virilization 7
619 IMM159 Immune Response to Synthetic Polypeptide--Irhgal 7
620 PLY087 Polyradiculoneuropathy Associated with Igg/iga/igm Monoclonal Gammopathy Without Known Antibodies 7
621 c RRF001 Rare Form of Salmonellosis 7
622 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
623 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 7
624 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 7
625 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
626 INS031 Inosine Phosphorylase Deficiency, Immune Defect Due to 6
627 LYM134 Lymphoblastic Transformation, Inhibition of 6
628 GTT003 Gait Ataxia with Late Onset Polyneuropathy Syndrome 6
629 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
630 c OBS792 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder 6
631 P LYM131 Lymphocyte Cytosol Polypeptide, 40-Kd 6
632 c LYM132 Lymphocyte Cytosol Polypeptide, 49-Kd 6
633 P LYM142 Lymphoma, Hodgkin, Y-Linked Pseudoautosomal 6
634 c OBS790 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect 6
635 IMM170 Immunoglobulin D Level in Plasma, Low 6
636 PNC125 Pancreatic Lymphoma, Familial 6
637 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
638 OBS839 Obsolete: Immunoglobulin A2 Deficiency 6
639 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
640 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
641 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
642 IMM155 Immune Response to Synthetic Polypeptide--Irphegal 5
643 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 5
644 PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5
645 DRC003 Drachtman Weinblatt Sitarz Syndrome 5
646 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
647 DRR015 Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency 4
648 DNR008 Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies 4
649 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 4
650 IMM052 Immunodeficiency Due to Absence of Thymus 4
651 c OBS776 Obsolete: Male Infertility with Impaired Virilization Due to an Hypothalamic or Pituitary Disorder 4
652 c OBS791 Obsolete: Male Infertility with Impaired Virilization Due to a Hypothalamic and Pituitary Disorder Associated with Hyperprolactinemia 4
653 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
654 c RRD014 Rare Adult Hypothyroidism 4
655 MTH001 Methotrexate-Associated Lymphoproliferation 4
656 MYL076 Myeloid/lymphoid Neoplasms Associated with Eosinophilia and Abnormality of Pdgfra, Pdgfrb or Fgfr1 4
657 PRM134 Primary Laryngeal Lymphangioma 4
658 OBS530 Obsolete: Common Variable Immunodeficiency Due to an Intrinsic B Cell Defect 4
659 OBS846 Obsolete: Common Variable Immunodeficiency Due to an Intrinsic T Cell Defect 4
660 LMB075 Limbic Encephalitis Associated with Antibodies to Cell Membrane Antigens 3
661 IMM203 Immune Dysregulation Disease with Immunodeficiency 3
662 PRM300 Primary Immunodeficiency Due to a Defect in Adaptive Immunity 3
663 LMB058 Limbic Encephalitis with Caspr2 Antibodies 3
664 IMM207 Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells 3
665 IMM208 Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells 3
666 c OBS769 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Neurologic Disease 3
667 c OBS782 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Systemic Disease 3
668 c OBS783 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Renal Failure 3
669 c OBS784 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Autoimmunity 3
670 c OBS785 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with a Granulomatous Disease 3
671 c OBS786 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Thyrotoxicosis 3
672 c OBS787 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with an Immune Disorder 3
673 c OBS788 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Hepatic Disease 3
674 c OBS789 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Chronic Illness 3
675 c OBS793 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Drug-Related 3
676 c OBS794 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with an Environmental Toxin 3
677 c OBS795 Obsolete: Male Infertility with Impaired Virilization Due to a Viral Orchitis 3
678 c OBS796 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Trauma 3
679 IMM216 Immunodeficiency Due to a Complement Cascade Protein Anomaly 3
680 RRL002 Rare Lymphatic System Malformation 3
681 OBS105 Obsolete: Common Variable Immunodeficiency Due to Tnfr Deficiency 3
682 MLG160 Malignant Lymphoma with Peripheral Neuropathy 3
683 OBS274 Obsolete: Primary T Cell Immunodeficiency 3
684 PLM110 Poliomyelitis in Patients with Immunodeficiencies Deemed at Risk 3
685 IMM209 Immune-Mediated Acquired Neuromuscular Junction Disease 3
686 CMM026 Common Cystic Lymphatic Malformation 3
687 PRM323 Primary Lymphedema with Associated Anomalies 3
688 PRM326 Primary Immunodeficiency with Predisposition to Severe Viral Infection 3
689 IMM213 Immune Dysregulation with Inflammatory Bowel Disease 3
690 OBS815 Obsolete: Disease with Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells 3
691 OBS840 Obsolete: Immunoglobulin A1 Deficiency 3
692 IMM205 Immunodeficiency Syndrome with Autoimmunity 3
693 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
694 PRM313 Primary Organ-Specific Lymphoma 3
695 OTH017 Other Immunodeficiency Syndromes Due to Defects in Innate Immunity 3
696 ATN020 Autoinflammatory Syndrome with Immune Deficiency 3
697 IMM210 Immunodeficiency Due to a Complement Cascade Component Deficiency 3
698 IMM211 Immunodeficiency Due to a Complement Regulatory Deficiency 3
699 LMB072 Limbic Encephalitis with Neurexin-3 Antibodies 3
700 PRM338 Primary Immunodeficiency Due to a Defect in Innate Immunity 3
701 P OBS104 Obsolete: Congenital Primary Lymphedema 2
702 OBS136 Obsolete: Cervicofacial Lymphatic Malformation 2
703 OBS273 Obsolete: Common Variable Immunodeficiency Without Known Genetic Defect 2
704 c OBS419 Obsolete: Late-Onset Primary Lymphedema 2
705 OBS487 Obsolete: Type 1 Interferonopathy with Immunodeficiency 2
706 OBS496 Obsolete: Hiv-Related Non-Hodgkin Lymphoma 2
707 OBS503 Obsolete: Hiv-Related Hodgkin Lymphoma 2
708 OBS526 Obsolete: Lymphocytic Colitis 2
709 OBS533 Obsolete: Lymphedema Tarda 2
710 OBS534 Obsolete: Lymphedema Praecox 2
711 OBS553 Obsolete: Lymphedema-Cleft Palate Syndrome 2
712 OBS638 Obsolete: Macrocephaly-Immune Deficiency-Anemia Syndrome 2
713 OBS649 Obsolete: Mandibulofacial Dysostosis-Lymphedema Syndrome 2
714 MCR376 Microcephaly-Cutis Verticis Gyrata-Lymphedema Syndrome 2
715 OBS673 Obsolete: Conjunctival Lymphangiectasia 2
716 P APL001 Aplastic Anemia 76
717 c ATM006 Autoimmune Lymphoproliferative Syndrome 73
718 P MLT020 Multiple Sclerosis 73
719 c BTT014 Beta-Thalassemia 73
720 P MYS003 Myasthenia Gravis 68
721 c HML033 Hemolytic Uremic Syndrome, Atypical 1 67
722 P LPR021 Leprosy 3 67
723 c GCH015 Gaucher Disease, Type I 65
724 P VNW001 Von Willebrand's Disease 64
725 P GCH001 Gaucher's Disease 63
726 c ALP101 Alpha-Thalassemia 63
727 P THL005 Thalassemia 62
728 IMM174 Immunodeficiency with Hyper-Igm, Type 1 60
729 HYP458 Hyper Ige Syndrome 60
730 P ERY058 Erythrocytosis, Familial, 1 60
731 P HRD011 Hereditary Spherocytosis 59
732 c GCH016 Gaucher Disease, Type Ii 59
733 P GLM007 Glomerulonephritis 58
734 c VNW010 Von Willebrand Disease, Type 2 58
735 P SJG008 Sjogren Syndrome 57
736 P GRV001 Graves' Disease 57
737 RHM027 Rheumatic Disease 56
738 P ANT006 Antiphospholipid Syndrome 56
739 c GRV008 Graves Disease 1 55
740 c GCH017 Gaucher Disease, Type Iii 54
741 GDP001 Goodpasture Syndrome 54
742 VGT001 Vogt-Koyanagi-Harada Disease 54
743 MMB001 Membranoproliferative Glomerulonephritis 54
744 c SCN036 Secondary Progressive Multiple Sclerosis 54
745 c ERY048 Erythrocytosis, Familial, 2 53
746 c VNW008 Von Willebrand Disease, Type 3 49
747 c PRM108 Primary Progressive Multiple Sclerosis 49
748 c VNW005 Von Willebrand Disease, Type 1 49
749 P RPD001 Rapidly Progressive Glomerulonephritis 46
750 EXT033 Extrapulmonary Tuberculosis 46
751 P ATM019 Autoimmune Polyendocrine Syndrome 45
752 ESP018 Esophageal Candidiasis 44
753 c PSD048 Pseudo-Von Willebrand Disease 44
754 P CPL003 Capillary Leak Syndrome 42
755 c ACQ017 Acquired Von Willebrand Syndrome 42
756 LMB024 Limbic Encephalitis 42
757 CRD003 Cardiac Sarcoidosis 42
758 MLL002 Miller Fisher Syndrome 42
759 c SYS007 Systemic Capillary Leak Syndrome 41
760 BRY001 Berylliosis 41
761 MCR020 Microsporidiosis 40
762 CMP009 Complement Deficiency 40
763 BBN001 Bubonic Plague 40
764 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 40
765 c SPH013 Spherocytosis, Type 1 39
766 C1N001 C1 Inhibitor Deficiency 39
767 c SPH016 Spherocytosis, Type 4 39
768 RTN072 Retinohepatoendocrinologic Syndrome 39
769 FRN014 Fournier Gangrene 38
770 c SPH014 Spherocytosis, Type 2 38
771 P HVY001 Heavy Chain Disease 38
772 c ATM045 Autoimmune Glomerulonephritis 38
773 HYP110 Hyperproinsulinemia 38
774 c LPR022 Leprosy 2 37
775 c FNC052 Fanconi Anemia, Complementation Group T 37
776 c SPH015 Spherocytosis, Type 3 36
777 P TRN016 Transient Hypogammaglobulinemia 36
778 PLY010 Polyclonal Hypergammaglobulinemia 35
779 CRD245 Cardiac-Urogenital Syndrome 35
780 ANT002 Anti-Basement Membrane Glomerulonephritis 34
781 c SPH017 Spherocytosis, Type 5 33
782 MYC015 Mycobacterium Fortuitum 33
783 PRG090 Progressive Relapsing Multiple Sclerosis 32
784 c ERY065 Erythrocytosis, Familial, 7 32
785 PRM087 Premature Chromatid Separation Trait 32
786 c GCH013 Gaucher Disease, Type Iiic 32
787 c MYS011 Myasthenia Gravis Congenital 31
788 c JVN038 Juvenile Myasthenia Gravis 31
789 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 30
790 MYC088 Mycobacterium Avium Complex Infections 30
791 CD4001 Cd45 Deficiency 30
792 c ANG045 Angioedema, Hereditary, Type Iii 30
793 c CNG020 Congenital Hypogammaglobulinemia 30
794 CMP064 Complement Component 3 Deficiency 30
795 SPL007 Splenic Abscess 29
796 ECT003 Ectopic Thymus 29
797 JVN059 Juvenile Ankylosing Spondylitis 28
798 c MLT094 Multiple Sclerosis 3 28
799 SPN048 Spindle Cell Thymoma 28
800 SPL009 Splenic Sequestration 28
801 DFF010 Diffuse Alopecia Areata 27
802 NNH013 Non-Histaminic Angioedema 26
803 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 26
804 ESN016 Eosinophilic Pustular Folliculitis 26
805 P ADL037 Adult Xanthogranuloma 25
806 c HML035 Hemolytic Uremic Syndrome, Atypical 2 25
807 c HML034 Hemolytic Uremic Syndrome, Atypical 3 25
808 CMP095 Complement Component 4a Deficiency 24
809 c MLT093 Multiple Sclerosis 2 24
810 P NNT006 Neonatal Myasthenia Gravis 24
811 UVP001 Uveoparotid Fever 24
812 c SBC010 Subacute Glomerulonephritis 24
813 CMP041 Complement Factor D Deficiency 24
814 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 24
815 c TRC078 Trichohepatoenteric Syndrome 2 23
816 c HRM020 Hermansky-Pudlak Syndrome 10 23
817 c HML032 Hemolytic Uremic Syndrome, Atypical 4 23
818 c LPR023 Leprosy 1 23
819 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
820 c ERY031 Erythrocytosis, Familial, 3 23
821 INT029 Interleukin-7 Receptor Alpha Deficiency 23
822 CRT005 Cortical Thymoma 23
823 c HML036 Hemolytic Uremic Syndrome, Atypical 6 23
824 ATM014 Autoimmune Disease of Endocrine System 23
825 c ERY064 Erythrocytosis, Familial, 6 22
826 c ANT041 Antiphospholipid Syndrome, Familial 22
827 c ERY067 Erythrocytosis, Familial, 8 22
828 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 21
829 P MCH003 Mu Chain Disease 21
830 c INS009 Insulin-Resistance Type B 20
831 ATM103 Autoimmune Atherosclerosis 20
832 c ERY032 Erythrocytosis, Familial, 4 20
833 ENC001 Encapsulated Thymoma 20
834 c ADL084 Adult-Onset Myasthenia Gravis 20
835 ESN013 Eosinophilic Cystitis 20
836 PMP013 Pemphigus Gestationis 20
837 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 20
838 c LPR017 Leprosy 5 20
839 c MLT095 Multiple Sclerosis 4 19
840 CRN011 Coronin-1a Deficiency 19
841 EPS038 Episodic Angioedema with Eosinophilia 19
842 ATM018 Autoimmune Disease of Urogenital Tract 19
843 c ERY063 Erythrocytosis, Familial, 5 18
844 c TRN062 Transient Neonatal Myasthenia Gravis 18
845 CD3001 Cd3zeta Deficiency 18
846 c LPR016 Leprosy 4 17
847 c LPR020 Leprosy 6 17
848 CMB001 Combined Thymoma 16
849 c GRV009 Graves Disease 2 16
850 SCR040 Secretory Component Deficiency 15
851 JCC001 Jaccoud's Syndrome 14
852 RCM002 Recombinase Activating Gene 1 Deficiency 14
853 c PSD023 Pseudo-Gaucher Disease 12
854 SRC006 Sarcoid Meningitis 11
855 RHM002 Rheumatic Pulmonary Valve Disease 10
856 P ATY049 Atypical Hemolytic Uremic Syndrome with C3 Anomaly 10
857 RCM001 Recombinase Activating Gene 2 Deficiency 10
858 HPT083 Hepatitis B Vaccine, Response to 9
859 HYP019 Hypercalcemic Sarcoidosis 9
860 c ACQ035 Acquired Angioedema Type 1 8
861 c CHR021 Chronic Rapidly Progressive Glomerulonephritis 7
862 c ALP107 Alpha-Thalassemia and Related Diseases 7
863 c MLG034 Malignant Type a Thymoma 6
864 c BTT015 Beta-Thalassemia and Related Diseases 5
865 c RRC002 Rare Acquired Aplastic Anemia 5
866 MLG020 Malignant Histiocytic Disease 5
867 PLG011 Plg-Related Hereditary Angioedema with Normal C1inh 5
868 P RRN005 Rare Insulin-Resistance Syndrome 5
869 LMB004 Lambda 5 Deficiency 4
870 ATM009 Autoimmune Disease of Exocrine System 4
871 c DLT001 Delta Chain Disease 4
872 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 2
873 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 55
874 c THR071 Thrombocytopenia 1 50
875 c THR111 Thrombocytopenia 3 40
876 c PRM225 Primary Thrombocytopenia 39
877 c THR037 Thrombocytopenia 2 36
878 c ACQ005 Acquired Thrombocytopenia 34
879 c THR048 Thrombocytopenia 4 31
880 c THR110 Thrombocytopenia 6 29
881 c THR102 Thrombocytopenia 5 28
882 CHL152 Childhood Acute Lymphocytic Leukemia 50
883 LRG008 Large Granular Lymphocyte Leukemia 45
884 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 17
885 c ADL017 Adult T-Cell Leukemia 59
886 c ACT020 Acute T Cell Leukemia 54
887 P TCL004 T-Cell Leukemia 48
888 c LKM005 Leukemia, T-Cell, Chronic 35
889 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 34
890 GRW003 Growth Hormone Insensitivity with Immunodeficiency 28
891 HYD038 Hydrops Fetalis, Nonimmune 55
892 NTR003 Natural Killer Cell Leukemia 44
893 P 8P1002 8p11 Myeloproliferative Syndrome 41
894 c MYL058 Myeloproliferative Syndrome, Transient 39
895 c MYL070 Myeloproliferative Disease, Autosomal Recessive 10
896 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 27
897 c LYM145 Lymphatic Malformation 5 52
898 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 44
899 c LYM150 Lymphatic Malformation 7 40
900 P INH011 Inherited Bone Marrow Failure Syndromes 34
901 IMM099 Immunodeficiency 33 23
902 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
903 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
904 c BNM011 Bone Marrow Failure Syndrome 2 22
905 IMM178 Immunodeficiency 31b 32
906 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 30
907 SPN026 Spinal Cord Lymphoma 25
908 IMM172 Immunodeficiency 34 19
909 HND013 Handl Syndrome 15
910 c TCL005 T-Cell Prolymphocytic Leukemia 50
911 c ADL052 Adult Acute Lymphocytic Leukemia 42
912 P BCL005 B Cell Prolymphocytic Leukemia 40
913 CLN005 Colon Lymphoma 32
914 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 29
915 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 24
916 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 7
917 LYM006 Lymphoepithelioma-Like Carcinoma 33
918 P DRM053 Dermatitis, Atopic 68
919 P NPH012 Nephrotic Syndrome 65
920 HRY003 Hairy Cell Leukemia 57
921 c NPH055 Nephrotic Syndrome, Type 1 56
922 HYD012 Hydrops Fetalis 49
923 c DRM054 Dermatitis, Atopic, 2 45
924 c NPH049 Nephrotic Syndrome, Type 2 45
925 c NPH054 Nephrotic Syndrome, Type 3 42
926 c FML015 Familial Nephrotic Syndrome 40
927 c NPH070 Nephrotic Syndrome, Type 6 39
928 c NPH072 Nephrotic Syndrome, Type 7 32
929 c NPH047 Nephrotic Syndrome, Type 4 32
930 LYM045 Lymphocytic Vasculitis 31
931 c NPH096 Nephrotic Syndrome, Type 12 28
932 c NPH076 Nephrotic Syndrome, Type 10 27
933 c NPH102 Nephrotic Syndrome, Type 14 26
934 c NPH074 Nephrotic Syndrome, Type 9 25
935 c EPD085 Epidermodysplasia Verruciformis 3 25
936 c NPH073 Nephrotic Syndrome, Type 8 24
937 c NPH103 Nephrotic Syndrome, Type 15 24
938 c NPH095 Nephrotic Syndrome, Type 11 24
939 c NPH105 Nephrotic Syndrome, Type 17 24
940 c EPD086 Epidermodysplasia Verruciformis 4 23
941 c DRM055 Dermatitis, Atopic, 3 22
942 c NPH106 Nephrotic Syndrome, Type 18 21
943 c NPH104 Nephrotic Syndrome, Type 16 20
944 c DRM057 Dermatitis, Atopic, 5 20
945 c NPH107 Nephrotic Syndrome, Type 19 20
946 c EPD084 Epidermodysplasia Verruciformis 2 20
947 c NPH093 Nephrotic Syndrome, Type 13 19
948 c DRM058 Dermatitis, Atopic, 6 18
949 c DRM056 Dermatitis, Atopic, 4 17
950 c DRM061 Dermatitis, Atopic, 9 17
951 c DRM060 Dermatitis, Atopic, 8 16
952 c DRM059 Dermatitis, Atopic, 7 15
953 c NPH108 Nephrotic Syndrome, Type 20 15
954 c CNG590 Congenital and Infantile Nephrotic Syndrome 12
955 PRG009 Progressive Multifocal Leukoencephalopathy 55
956 IGG001 Iga Glomerulonephritis 50
957 PNN005 Panencephalitis, Subacute Sclerosing 43
958 BLD028 Bladder Lymphoma 32
959 ACT118 Acute Non Lymphoblastic Leukemia 27
960 NCH001 Nuchal Bleb, Familial 24
961 INF127 Infective Dermatitis Associated with Htlv-1 17
962 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
963 PNC007 Pancreas Lymphoma 12
964 c LKM050 Leukemia, Chronic Lymphocytic 1 11
965 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 6
966 ACT102 Acute Lymphoblastic Leukemia Congenital Sporadic Aniridia 2
967 AST005 Asthma 80
968 STF001 Stiff-Person Syndrome 60
969 c ANM036 Anemia, Sideroblastic, 1 56
970 LMB002 Lambert-Eaton Myasthenic Syndrome 55
971 CHR635 Chromosome 5q Deletion Syndrome 51
972 P SDR003 Sideroblastic Anemia 47
973 c ATS210 Autosomal Recessive Sideroblastic Anemia 27
974 IMM153 Immunodeficiency 51 27
975 c BNM013 Bone Marrow Failure Syndrome 3 24
976 c BNM032 Bone Marrow Failure Syndrome 4 23
977 c BNM033 Bone Marrow Failure Syndrome 5 21
978 IMM145 Immunodeficiency 11b with Atopic Dermatitis 20
979 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 18
980 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
981 P LKM002 Leukemia 69
982 P PSR002 Psoriasis 63
983 P THR005 Thrombotic Thrombocytopenic Purpura 59
984 NTH001 Netherton Syndrome 59
985 ERY003 Erythema Multiforme 57
986 P PMP001 Pemphigus 56
987 c BNG091 Benign Chronic Pemphigus 56
988 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 55
989 c PSR017 Psoriasis 2 55
990 LST001 Listeriosis 55
991 CRY003 Cryptosporidiosis 50
992 P IGN003 Iga Nephropathy 1 50
993 c PSR023 Psoriasis 1 50
994 c HMN021 Human T-Cell Leukemia Virus Type 1 50
995 FML330 Familial Lcat Deficiency 40
996 LNR006 Linear Iga Disease 40
997 c PSR028 Psoriasis 7 40
998 c PSR018 Psoriasis 13 40
999 c PSR032 Psoriasis 11 40
1000 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 30
1001 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 29
1002 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 27
1003 KWR001 Kowarski Syndrome 26
1004 MNS016 Monosomy 7 of Bone Marrow 25
1005 c PSR025 Psoriasis 4 25
1006 c PSR024 Psoriasis 3 25
1007 c IGN004 Iga Nephropathy 3 23
1008 c PSR027 Psoriasis 6 22
1009 c PSR026 Psoriasis 5 22
1010 c CND037 Candidiasis, Familial, 6 21
1011 c PSR031 Psoriasis 10 21
1012 c PSR033 Psoriasis 12 21
1013 OSL001 Oslam Syndrome 19
1014 c IGN002 Iga Nephropathy 2 18
1015 c PSR030 Psoriasis 8 18
1016 c PSR029 Psoriasis 9 18
1017 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 15
1018 c PSR034 Psoriasis 15 13
1019 YSH001 Yusho Disease 11
1020 NFK002 Nf-Kappa B Essential Modulator Deficiency 9
1021 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 8
1022 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 8
1023 c LKM061 Leukemia, Acute Myeloid 84
1024 c LKM063 Leukemia, Chronic Myeloid 74
1025 P LYS001 Loeys-Dietz Syndrome 65
1026 P ENC018 Encephalopathy 64
1027 P ACR001 Aicardi-Goutieres Syndrome 63
1028 P MYL006 Myeloid Leukemia 61
1029 c ACT073 Acute Leukemia 59
1030 ISL014 Isolated Growth Hormone Deficiency, Type Ia 58
1031 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
1032 c LYS019 Loeys-Dietz Syndrome 1 57
1033 c LYS021 Loeys-Dietz Syndrome 3 56
1034 c ACR116 Aicardi-Goutieres Syndrome 1 53
1035 c CNG021 Congenital Toxoplasmosis 52
1036 c CHR418 Chronic Leukemia 52
1037 CHL061 Childhood Leukemia 49
1038 CHR563 Chronic Eosinophilic Leukemia 49
1039 LGN006 Legionnaire Disease 48
1040 c LYS017 Loeys-Dietz Syndrome 4 48
1041 P TRN034 Transverse Myelitis 48
1042 P RSM001 Rasmussen Encephalitis 46
1043 c LYS018 Loeys-Dietz Syndrome 2 46
1044 CTS005 Catastrophic Antiphospholipid Syndrome 44
1045 c FNC046 Fanconi Anemia, Complementation Group P 44
1046 LKC003 Leukocyte Disease 43
1047 ISL015 Isolated Growth Hormone Deficiency, Type Ib 43
1048 CNT060 Central Serous Chorioretinopathy 41
1049 c ACT159 Acute Transverse Myelitis 40
1050 SLV003 Salivary Gland Disease 40
1051 c PSD106 Pseudo-Torch Syndrome 1 39
1052 c GRS012 Griscelli Syndrome, Type 3 38
1053 c HMN022 Human T-Cell Leukemia Virus Type 2 38
1054 c ACR088 Aicardi-Goutieres Syndrome 3 37
1055 PLS002 Peliosis Hepatis 37
1056 CRC001 Cercarial Dermatitis 36
1057 BRS015 Breast Medullary Carcinoma 36
1058 MTR008 Mature B-Cell Neoplasm 35
1059 c LKM004 Leukemia, B-Cell, Chronic 35
1060 ACT216 Acute Leukemia of Ambiguous Lineage 35
1061 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 35
1062 c ACR081 Aicardi-Goutieres Syndrome 6 33
1063 LYM015 Lymphocytic Gastritis 32
1064 PRN033 Paraneoplastic Neurologic Disorders 32
1065 ESN009 Eosinophil Peroxidase Deficiency 31
1066 OCC001 Occupational Dermatitis 30
1067 c ACR084 Aicardi-Goutieres Syndrome 7 30
1068 c LYS020 Loeys-Dietz Syndrome 5 30
1069 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
1070 NLL001 Null-Cell Leukemia 29
1071 ATM076 Autoimmune Retinopathy 29
1072 PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 28
1073 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 27
1074 c PSD107 Pseudo-Torch Syndrome 2 26
1075 c ATM064 Autoimmune Pancreatitis Type 1 24
1076 P TRC034 Torch Syndrome 23
1077 ATM074 Autoimmune Autonomic Ganglionopathy 22
1078 SPC025 Specific Granule Deficiency 2 22
1079 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 21
1080 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
1081 c RSM003 Rasmussen Subacute Encephalitis 21
1082 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 19
1083 c EPD087 Epidermodysplasia Verruciformis 5 18
1084 PLM002 Pulmonary Plasma Cell Granuloma 16
1085 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 16
1086 c SBC004 Subacute Myeloid Leukemia 15
1087 IMM206 Immune Complex Mediated Vasculitis 14
1088 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 13
1089 c SBC006 Subacute Leukemia 13
1090 c HMN023 Human T-Cell Leukemia Virus Type 3 12
1091 IMM016 Immune Deficiency, Familial Variable 10
1092 LYM153 Lymphoplasmacytic Inflammatory Pseudotumor of the Liver 9
1093 VSC052 Vasculitis, Lymphocytic, Nodular 8
1094 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
1095 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 7
1096 c SCN040 Secondary Acute Transverse Myelitis 6
1097 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 5
1098 VSC057 Vasculitis, Lymphocytic, Cutaneous Small Vessel 5
1099 IMM214 Immune Deficiency with Skin Involvement 4
1100 GNT085 Genetic Immune Deficiency with Skin Involvement 3
1101 RRG005 Rare Genetic Immune Disease 3
1102 NNR026 Non-Rare Immune Disease 3
1103 GNT137 Genetic Tumor of Hematopoietic and Lymphoid Tissues 3
1104 P ATX030 Ataxia-Telangiectasia 83
1105 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 82
1106 c DLT002 Dilated Cardiomyopathy 81
1107 IMM167 Immune Deficiency Disease 79
1108 c THR092 Thrombophilia Due to Thrombin Defect 74
1109 AGM019 Agammaglobulinemia, X-Linked 71
1110 c JVN004 Juvenile Myelomonocytic Leukemia 68
1111 P SYS005 Systemic Scleroderma 68
1112 P NRV007 Nervous System Disease 68
1113 P HMP002 Hemophagocytic Lymphohistiocytosis 68
1114 P HYP098 Hypereosinophilic Syndrome 67
1115 P THR014 Thrombocytopenia 67
1116 P CLC063 Celiac Disease 1 66
1117 P AGM001 Agammaglobulinemia 66
1118 ALL026 Allergic Hypersensitivity Disease 65
1119 P DYS007 Dyskeratosis Congenita 64
1120 P VSC011 Vasculitis 64
1121 P THY023 Thymoma 64
1122 P ENC004 Encephalitis 64
1123 CNC002 Cinca Syndrome 63
1124 GRN037 Granulomatosis with Polyangiitis 62
1125 c SCL052 Scleroderma, Familial Progressive 62
1126 ATM095 Autoimmune Disease 62
1127 P ALP009 Alopecia Areata 61
1128 NRM019 Neuraminidase Deficiency 61
1129 c THR082 Thrombophilia Due to Activated Protein C Resistance 61
1130 c LCL006 Localized Scleroderma 61
1131 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 61
1132 P CHR285 Chronic Myelomonocytic Leukemia 60
1133 P NRM001 Neuromyelitis Optica 60
1134 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 59
1135 IRN001 Iron Deficiency Anemia 59
1136 P UVT001 Uveitis 58
1137 P NRP001 Neuropathy 57
1138 RLP002 Relapsing-Remitting Multiple Sclerosis 57
1139 P GLL022 Guillain-Barre Syndrome 56
1140 P PLY018 Polycythemia 56
1141 c CHR417 Chronic Graft Versus Host Disease 56
1142 c CNT035 Central Nervous System Disease 56
1143 c FNC042 Fanconi Anemia, Complementation Group D2 56
1144 c CRD099 Cardiomyopathy, Dilated, 1e 56
1145 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
1146 c THY107 Thymoma, Familial 55
1147 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 55
1148 LG4001 Lig4 Syndrome 55
1149 PLM012 Pulmonary Sarcoidosis 54
1150 c INT064 Intermediate Uveitis 54
1151 GNT003 Genital Herpes 54
1152 CST005 Castleman Disease 54
1153 P HMR003 Hemorrhagic Disease 54
1154 P ADM011 Adams-Oliver Syndrome 53
1155 P SCK005 Sickle Cell Disease 53
1156 c ACT135 Acute Graft Versus Host Disease 52
1157 c PST005 Posterior Uveitis 52
1158 HST011 Histoplasmosis 52
1159 c PRM012 Primary Polycythemia 52
1160 P THR015 Thrombophilia 51
1161 c FNC025 Fanconi Anemia, Complementation Group J 51
1162 BLD053 Blood Platelet Disease 51
1163 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 49
1164 c VRL007 Viral Encephalitis 49
1165 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1166 HMG002 Hemoglobinuria 49
1167 LYM024 Lymphatic System Disease 48
1168 c CNG027 Congenital Hemolytic Anemia 48
1169 c ANT034 Anterior Uveitis 48
1170 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 48
1171 P PRR002 Pure Red-Cell Aplasia 47
1172 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47
1173 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 47
1174 c FNC028 Fanconi Anemia, Complementation Group L 47
1175 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 46
1176 PLL012 Pollen Allergy 46
1177 CYT002 Cytokine Deficiency 46
1178 CNG028 Congenital Hypoplastic Anemia 46
1179 c CRD097 Cardiomyopathy, Dilated, 1d 46
1180 CCC002 Coccidiosis 46
1181 c ATM099 Autoimmune Uveitis 45
1182 PDC001 Podoconiosis 45
1183 PNT038 Peanut Allergy 45
1184 RSP021 Respiratory Allergy 45
1185 c PRM038 Primary Agammaglobulinemia 45
1186 c CRD187 Cardiomyopathy, Dilated, 3b 45
1187 TCL003 T Cell Deficiency 44
1188 PNC085 Penicillin Allergy 44
1189 BCL002 B Cell Deficiency 44
1190 DRG024 Drug Allergy 43
1191 DFF003 Diffuse Scleroderma 43
1192 P RRC004 Rare Cardiomyopathy 43
1193 c ACQ010 Acquired Polycythemia 43
1194 c CRD093 Cardiomyopathy, Dilated, 1a 43
1195 P DMY001 Demyelinating Polyneuropathy 43
1196 LYM116 Lymph Node Disease 43
1197 c CRD233 Cardiomyopathy, Dilated, 1b 43
1198 c HYP072 Hypersensitivity Reaction Type Iii Disease 42
1199 IMM003 Immunoglobulin Alpha Deficiency 42
1200 IMM015 Immune Defect Due to Absence of Thymus 42
1201 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
1202 NRW001 Norwegian Scabies 42
1203 LTX001 Latex Allergy 42
1204 PLS016 Plasma Cell Leukemia 41
1205 SCR015 Scarlet Fever 41
1206 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 41
1207 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 40
1208 TBR008 Tuberculous Peritonitis 40
1209 GDS001 Good Syndrome 40
1210 c FNC047 Fanconi Anemia, Complementation Group Q 39
1211 c GLL037 Guillain-Barre Syndrome, Familial 39
1212 LYM010 Lymph Node Tuberculosis 39
1213 c ATM075 Autoimmune Encephalitis 39
1214 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 39
1215 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 39
1216 IMM104 Immunodeficiency with Hyper-Igm, Type 2 39
1217 HTR014 Heterotaxy, Visceral, 1, X-Linked 39
1218 ANT039 Antisynthetase Syndrome 39
1219 c HRD088 Hereditary Neuropathies 39
1220 HRT040 Hirata Disease 39
1221 c CRD105 Cardiomyopathy, Dilated, 1o 39
1222 MSN002 Mesenteric Lymphadenitis 38
1223 EGG001 Egg Allergy 38
1224 CRP002 Croup 38
1225 PRS123 Persistent Generalized Lymphadenopathy 38
1226 c HRD007 Hereditary Lymphedema 38
1227 c ADM005 Adams-Oliver Syndrome 1 38
1228 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 37
1229 CWM001 Cow Milk Allergy 37
1230 DRG013 Drug-Induced Lupus Erythematosus 37
1231 CMP089 Complement Component 6 Deficiency 37
1232 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 37
1233 NTL004 Nut Allergy 37
1234 ELP001 Elephantiasis 37
1235 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 36
1236 c LYM106 Lymphoproliferative Syndrome 1 36
1237 c ATM007 Autoimmune Disease of Central Nervous System 36
1238 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1239 BTL002 Beta-Lactam Allergy 36
1240 NNL001 Non-Langerhans-Cell Histiocytosis 36
1241 c PRM149 Primary Hypereosinophilic Syndrome 35
1242 PRN029 Parainfluenza Virus Type 3 35
1243 LYM005 Lymphocele 35
1244 SPL006 Splenic Infarction 35
1245 DYS016 Dysgammaglobulinemia 35
1246 CRV030 Cervical Adenitis 34
1247 c ACR091 Aicardi-Goutieres Syndrome 4 34
1248 ESN014 Eosinophilic Enteropathy 34
1249 HMN003 Hemangioma of Spleen 33
1250 c ATM104 Autoimmune Vasculitis 33
1251 LNG004 Langerhans Cell Sarcoma 33
1252 LCH013 Lichen Planus Pemphigoides 33
1253 c CRD104 Cardiomyopathy, Dilated, 1p 33
1254 c ADM010 Adams-Oliver Syndrome 5 33
1255 PHT004 Photoallergic Dermatitis 33
1256 CPH004 Cephalosporin Allergy 33
1257 LYM014 Lymphangitis 32
1258 MTL005 Metal Allergy 32
1259 c CRD155 Cardiomyopathy, Dilated, 1kk 32
1260 c CRD102 Cardiomyopathy, Dilated, 1j 32
1261 c LCL022 Localized Lipodystrophy 32
1262 ASP036 Aspirin Allergy 32
1263 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 32
1264 SLC004 Selective Igg Deficiency Disease 32
1265 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 32
1266 c ADM007 Adams-Oliver Syndrome 2 32
1267 c TRN009 Transient Hypogammaglobulinemia of Infancy 31
1268 CHR068 Chronic Nk-Cell Lymphocytosis 31
1269 CRT086 Corticosteroid Allergy 31
1270 FSH003 Fish Allergy 31
1271 PRG023 Progeroid Short Stature with Pigmented Nevi 31
1272 c NRM008 Neuromyelitis Optica Spectrum Disorder 31
1273 c INF019 Infectious Anterior Uveitis 31
1274 c CRD069 Cardiomyopathy, Dilated, 1h 31
1275 APP016 Apple Allergy 31
1276 c ATM089 Autoimmune Neuropathy 30
1277 WHT017 Wheat Allergy 30
1278 c INV003 Invasive Malignant Thymoma 30
1279 SPL008 Splenic Tuberculosis 30
1280 c CRD080 Cardiomyopathy, Dilated, 1g 29
1281 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
1282 SHR118 Shrimp Allergy 29
1283 ATM078 Autoimmune Addison Disease 29
1284 TXC003 Toxicodendron Dermatitis 28
1285 c CRD107 Cardiomyopathy, Dilated, 1r 28
1286 CMP087 Complement Component 7 Deficiency 28
1287 FRT005 Fruit Allergy 28
1288 c ACQ043 Acquired Lipodystrophy 28
1289 SLF017 Sulfamethoxazole Allergy 28
1290 MYL002 Myelophthisic Anemia 27
1291 SPP001 Suppurative Lymphadenitis 27
1292 c ACQ016 Acquired Pure Red Cell Aplasia 27
1293 CMP093 Complement Component 8 Deficiency, Type I 27
1294 PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 27
1295 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 27
1296 c ATM102 Autoimmune Cardiomyopathy 27
1297 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
1298 EPT007 Epithelial Malignant Thymoma 27
1299 CRS013 Crustacean Allergy 27
1300 PTY004 Pityriasis Lichenoides 26
1301 c HRD202 Hereditary Lymphedema I 26
1302 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 26
1303 c CRD091 Cardiomyopathy, Dilated, 1dd 26
1304 c CNG031 Congenital Nervous System Abnormality 26
1305 c ADM009 Adams-Oliver Syndrome 4 25
1306 IMM176 Immunodeficiency with Hyper-Igm, Type 5 25
1307 c ADM012 Adams-Oliver Syndrome 6 25
1308 THY026 Thymus Gland Disease 25
1309 c ADM008 Adams-Oliver Syndrome 3 25
1310 c CRD159 Cardiomyopathy, Dilated, 1hh 25
1311 SNL011 Snail Allergy 25
1312 c CRD149 Cardiomyopathy, Dilated, 1jj 24
1313 ATM012 Autoimmune Disease of Blood 24
1314 c CRD101 Cardiomyopathy, Dilated, 1x 24
1315 c CRD090 Cardiomyopathy, Dilated, 1l 24
1316 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 24
1317 c CRD092 Cardiomyopathy, Dilated, 1w 24
1318 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 24
1319 ATM005 Autoimmune Disease of Musculoskeletal System 24
1320 PRT025 Protein-Deficiency Anemia 24
1321 c CRD114 Cardiomyopathy, Dilated, 1m 24
1322 c ALP039 Alopecia Areata 1 23
1323 c CRD115 Cardiomyopathy, Dilated, 1cc 23
1324 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 23
1325 c CRD162 Cardiomyopathy, Dilated, 1ii 23
1326 SLF016 Sulfonamide Allergy 23
1327 c THR023 Thrombophilia Due to Thrombomodulin Defect 23
1328 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 23
1329 AXL002 Axillary Adenitis 23
1330 JNS001 Janus Kinase-3 Deficiency 22
1331 c CRD153 Cardiomyopathy, Dilated, 2b 22
1332 c CLC048 Celiac Disease 3 22
1333 ATM015 Autoimmune Disease of Gastrointestinal Tract 22
1334 CMP094 Complement Component 4b Deficiency 22
1335 BCK018 Bickerstaff Brainstem Encephalitis 22
1336 c CRD082 Cardiomyopathy, Dilated, 1gg 22
1337 c CRD063 Cardiomyopathy, Dilated, 2a 22
1338 PCH016 Peach Allergy 22
1339 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
1340 c CRD111 Cardiomyopathy, Dilated, 1i 21
1341 c INF186 Infectious Encephalitis 21
1342 EPT029 Epithelioid Inflammatory Myofibroblastic Sarcoma 21
1343 c CRD173 Cardiomyopathy, Dilated, 1nn 21
1344 c CRD060 Cardiomyopathy, Dilated, 1z 21
1345 c RRH015 Rare Hemorrhagic Disorder 21
1346 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1347 c CHR692 Chronic Encephalitis 21
1348 c CRD096 Cardiomyopathy, Dilated, 1ee 21
1349 c CRD112 Cardiomyopathy, Dilated, 1u 21
1350 SLC003 Selective Igm Deficiency Disease 21
1351 c CLC046 Celiac Disease 5 21
1352 c ATS209 Autosomal Dominant Secondary Polycythemia 21
1353 c THY018 Thymus Clear Cell Carcinoma 20
1354 c CRD113 Cardiomyopathy, Dilated, 1v 20
1355 c MLT124 Multiple Sclerosis 5 20
1356 c CHR688 Chronic Acquired Demyelinating Polyneuropathy 20
1357 THY003 Thymic Dysplasia 20
1358 c CRD108 Cardiomyopathy, Dilated, 1bb 20
1359 AMX001 Amoxicillin Allergy 20
1360 c CLC037 Celiac Disease 4 19
1361 c CLC045 Celiac Disease 2 19
1362 c INF152 Infectious Posterior Uveitis 19
1363 SLC007 Selective Immunoglobulin Deficiency Disease 19
1364 c CRD244 Cardiomyopathy, Dilated, 2c 19
1365 c CRD064 Cardiomyopathy, Dilated, 1ff 19
1366 c CLC040 Celiac Disease 6 19
1367 DCL001 Diclofenac Allergy 19
1368 c CLC047 Celiac Disease 8 18
1369 CHL145 Chlorhexidine Allergy 18
1370 LDC001 Lidocaine Allergy 17
1371 c CLC039 Celiac Disease 13 17
1372 TMT007 Tomato Allergy 17
1373 c ALP040 Alopecia Areata 2 17
1374 c CLC042 Celiac Disease 9 16
1375 c CLC038 Celiac Disease 10 16
1376 P PRM210 Primary Lipodystrophy 16
1377 c SCN082 Secondary Vasculitis 16
1378 ATM013 Autoimmune Disease of Cardiovascular System 16
1379 TMT006 Timothy Grass Allergy 15
1380 CHR570 Cherry Allergy 15
1381 c CLC043 Celiac Disease 11 15
1382 PPL015 Papillary Thymic Adenocarcinoma 15
1383 c CLC044 Celiac Disease 12 15
1384 c THY085 Thymoma Type a 15
1385 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 15
1386 ADS006 Aids - Neurological Complications 15
1387 BLD160 Blood Group, John Milton Hagen System 15
1388 c THY087 Thymoma Type Ab 15
1389 c CLC041 Celiac Disease 7 14
1390 RCR031 Rocuronium Allergy 14
1391 c DLT017 Dilated Cardiomyopathy 1t 14
1392 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 14
1393 c THY086 Thymoma Type B 13
1394 c CRD070 Cardiomyopathy, Dilated, 1k 13
1395 c CRD071 Cardiomyopathy, Dilated, 1q 13
1396 SBM002 Submandibular Adenitis 13
1397 CHR058 Chronic Congestive Splenomegaly 13
1398 SPL013 Splenic Manifestation of Leukemia 13
1399 CRB201 Crab Allergy 12
1400 OXR001 Oxirane Allergy 12
1401 NNN002 Noninvasive Malignant Thymoma 12
1402 c SCN042 Secondary Hypereosinophilic Syndrome 11
1403 HRD209 Hereditary Angioedema with Normal C1inh 11
1404 GLT030 Gluten Allergy 11
1405 MLN063 Melon Allergy 11
1406 c HRD203 Hereditary Lymphedema Id 11
1407 CHL146 Chloramine T Respiratory Allergy 11
1408 c INF187 Infectious Disease of the Nervous System 10
1409 SLC002 Selective Ige Deficiency Disease 10
1410 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 9
1411 CRB199 Carbamazepine Allergy 9
1412 THY012 Thymus Adenosquamous Carcinoma 9
1413 ALG025 Alg1-Congenital Disorder of Glycosylation 9
1414 PHN016 Phenytoin Allergy 9
1415 c CNG266 Congenital Secondary Polycythemia 8
1416 CTR186 Co-Trimoxazole Allergy 8
1417 GTM001 Goat Milk Allergy 8
1418 CFT003 Ceftriaxone Allergy 8
1419 PHN015 Phenobarbital Allergy 8
1420 SCC012 Succinylcholine Allergy 8
1421 SLF018 Sulfasalazine Allergy 8
1422 c RRH018 Rare Hemorrhagic Disorder Due to a Qualitative Platelet Defect 7
1423 c RRH022 Rare Hereditary Thrombophilia 7
1424 CFC003 Cefaclor Allergy 7
1425 ISN002 Isoniazide Allergy 7
1426 QND001 Quinidine Allergy 7
1427 CHC003 Chicken Egg Allergy 7
1428 c HRD204 Hereditary Lymphedema Ia 7
1429 c ACQ028 Acquired Secondary Polycythemia 7
1430 c RRH028 Rare Hemorrhagic Disorder Due to a Constitutional Platelet Anomaly 7
1431 BNZ003 Benzylpenicillin Allergy 7
1432 TRM026 Trimethoprim Allergy 6
1433 c HRD205 Hereditary Lymphedema Ib 6
1434 SLC001 Selective Igd Deficiency Disease 6
1435 c RRH013 Rare Hemorrhagic Disorder Due to a Platelet Anomaly 6
1436 c RRH016 Rare Hemorrhagic Disorder Due to an Acquired Platelet Anomaly 6
1437 c RRH017 Rare Hemorrhagic Disorder Due to a Constitutional Thrombocytopenia 6
1438 THP007 Thiopental Allergy 6
1439 CFT005 Ceftazidime Allergy 6
1440 IMM004 Immunoglobulin Beta Deficiency 6
1441 c CRD027 Cardiomyopathy Due to Anthracyclines 6
1442 CMP033 Complement Receptor Deficiency 6
1443 c PLY005 Polycythemia Due to Hypoxia 6
1444 ORN009 Orange Allergy 6
1445 LPS008 Lupus - Neurological Sequelae 5
1446 MPV003 Mepivacaine Allergy 5
1447 AMD001 Amodiaquine Allergy 5
1448 CFR002 Cefuroxime Allergy 5
1449 AZT006 Aztreonam Allergy 5
1450 MLP008 Melphalan Allergy 5
1451 c RRH002 Rare Hemorrhagic Disorder Due to an Acquired Coagulation Factor Defect 5
1452 c RRH014 Rare Hemorrhagic Disorder Due to a Coagulation Factors Defect 5
1453 c RRH029 Rare Hemorrhagic Disorder Due to a Constitutional Coagulation Factors Defect 5
1454 CRB200 Carbapenem Allergy 5
1455 c SCK049 Sickle Cell Disease and Related Diseases 5
1456 ACQ052 Acquired Angioedema with C1inh Deficiency 5
1457 RNT001 Ranitidine Allergy 4
1458 DMN046 D-Mannitol Allergy 4
1459 CYC011 Cyclophosphamide Allergy 4
1460 TBC005 Tubocurarine Allergy 4
1461 KTP001 Ketoprofen Photoallergic Dermatitis 4
1462 SDM006 Sodium Aurothiomalate Allergy 4
1463 PHT015 Phthalyl Group Allergy 4
1464 PLM144 Plum Allergy 4
1465 c ACT242 Acute and Subacute Inflammatory Demyelinating Polyneuropathy 4
1466 MTH085 Methyl Isocyanate Allergic Asthma 4
1467 TRM027 Trimellitic Anhydride Allergic Asthma 4
1468 PST006 Postauricular Lymphadenitis 4
1469 c SYS074 Systemic Diseases with Anterior Uveitis 4
1470 c SYS076 Systemic Diseases with Posterior Uveitis 4
1471 SPL002 Splenic Manifestation of Prolymphocytic Leukemia 4
1472 ABC021 Abacavir Allergy 4
1473 SPR138 Suprofen Allergy 4
1474 CFT004 Cefotaxime Allergy 4
1475 CFX001 Cefixime Allergy 4
1476 PPR002 Piperacillin Allergy 4
1477 RMZ001 Remazole Black Respiratory Allergy 4
1478 4VN001 4-Vinylcyclohexene Dioxide Respiratory Allergy 4
1479 DSD001 Disodium Cromoglycate Allergy 4
1480 GLL044 Gallamine Allergy 4
1481 PTN015 Patent Blue V Allergy 4
1482 APR007 Apricot Allergy 4
1483 IND010 Indian Plum Allergy 4
1484 ATL013 Atlantic Cod Allergy 4
1485 ATL014 Atlantic Salmon Allergy 4
1486 CRP027 Carp Allergy 4
1487 ZBR002 Zebrafish Allergy 4
1488 RNB001 Rainbow Trout Allergy 4
1489 BRW010 Brown Shrimp Allergy 4
1490 IND011 Indian Prawn Allergy 4
1491 TGR001 Tiger Prawn Allergy 4
1492 WHT016 White Shrimp Allergy 4
1493 NRL011 Neurological Consequences of Cytomegalovirus Infection 4
1494 PHT014 Phthalic Anhydride Allergic Asthma 3
1495 ALC034 Alcuronium Bromide Allergy 3
1496 ACD012 Acid Anhydride Respiratory Allergy 3
1497 CFT006 Cefotiam Allergy 3
1498 HRN023 Horned Turban Snail Allergy 3
1499 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 56
1500 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 47
1501 P AMY004 Amyloidosis 71
1502 HMT002 Hematologic Cancer 64
1503 P TRC086 Trichohepatoenteric Syndrome 1 57
1504 c ALM001 Al Amyloidosis 50
1505 c AMY009 Amyloidosis Aa 50
1506 c HRD039 Hereditary Amyloidosis 46
1507 c GRS013 Griscelli Syndrome, Type 1 41
1508 HYP249 Hyperthyroidism, Nonautoimmune 33
1509 c PRM150 Primary Localized Amyloidosis 19
1510 c AHM002 Ah Amyloidosis 18
1511 P CND004 Candidiasis 61
1512 PMP006 Pemphigus Vulgaris, Familial 56
1513 MXD005 Mixed Connective Tissue Disease 55
1514 AMY086 Amyotrophy, Hereditary Neuralgic 46
1515 P THP004 Thiopurines, Poor Metabolism of, 1 44
1516 c CND034 Candidiasis, Familial, 2 34
1517 c CND033 Candidiasis, Familial, 1 30
1518 c CND036 Candidiasis, Familial, 4 25
1519 c CND025 Candidiasis, Familial, 8 24
1520 c CND031 Candidiasis, Familial, 9 23
1521 c CND027 Candidiasis, Familial, 3 18
1522 c THP005 Thiopurines, Poor Metabolism of, 2 17
1523 MLD001 Melioidosis 66
1524 c SVR003 Severe Congenital Neutropenia 59
1525 GRY002 Gray Platelet Syndrome 59
1526 SPN041 Spinal Cord Disease 57
1527 WST005 West Nile Virus 56
1528 P LCH002 Lichen Planus 55
1529 P HYP076 Hyperthyroidism 55
1530 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 55
1531 c CNG012 Congenital Generalized Lipodystrophy 53
1532 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 48
1533 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 47
1534 P ACQ022 Acquired Generalized Lipodystrophy 46
1535 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 43
1536 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 43
1537 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 18
1538 c LCH017 Lichen Planus, Familial 13
1539 c RRH008 Rare Hyperthyroidism 12
1540 TNG005 Tang Hsi Ryu Syndrome 8
1541 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
1542 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
1543 P BRS047 Breast Cancer 99
1544 P WSK001 Wiskott-Aldrich Syndrome 71
1545 P FML018 Familial Mediterranean Fever 70
1546 c PNC108 Pancreatitis, Hereditary 70
1547 P OST001 Osteopetrosis 70
1548 P DMN001 Diamond-Blackfan Anemia 69
1549 CMM004 Common Variable Immunodeficiency 69
1550 c NMN015 Niemann-Pick Disease, Type C1 67
1551 UND005 Undifferentiated Pleomorphic Sarcoma 66
1552 OST017 Osteomyelitis 65
1553 KWS002 Kawasaki Disease 65
1554 P PRP019 Peripheral Nervous System Disease 64
1555 P HML002 Hemolytic Anemia 64
1556 P LYM033 Lymphoproliferative Syndrome 62
1557 P URT039 Urticaria 61
1558 c NMN016 Niemann-Pick Disease, Type B 61
1559 P PNC044 Pancreatitis 61
1560 c ANM038 Anemia, Autoimmune Hemolytic 61
1561 P NMN002 Niemann-Pick Disease 60
1562 c ACT027 Acute Pancreatitis 60
1563 ANG020 Angiosarcoma 59
1564 c NMN013 Niemann-Pick Disease, Type a 58
1565 LYM021 Lymphadenitis 58
1566 DSS009 Disseminated Intravascular Coagulation 58
1567 P GST044 Gastritis 58
1568 P INF037 Inflammatory Bowel Disease 57
1569 CLL003 Cellulitis 56
1570 ALL006 Allergic Asthma 56
1571 GRN051 Granulomatous Disease, Chronic, X-Linked 55
1572 WHM001 Whim Syndrome 55
1573 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55
1574 P OPT009 Optic Neuritis 55
1575 P HST010 Histiocytosis 54
1576 c NMN014 Niemann-Pick Disease, Type C2 53
1577 c OST163 Osteopetrosis, Autosomal Recessive 3 53
1578 c CHL140 Chilblain Lupus 1 52
1579 IMM136 Immune System Disease 52
1580 c INF023 Inflammatory Breast Carcinoma 52
1581 c MLG054 Malignant Histiocytosis 51
1582 c OST131 Osteopetrosis, Autosomal Dominant 2 51
1583 c BRS049 Breast Carcinoma in Situ 51
1584 c DMN023 Diamond-Blackfan Anemia 1 51
1585 HYP063 Hypersplenism 51
1586 SLD003 Sialadenitis 51
1587 c ATM024 Autoimmune Pancreatitis 50
1588 MYD002 Myd88 Deficiency 50
1589 CSP005 Caspase 8 Deficiency 50
1590 P HRD012 Hereditary Elliptocytosis 50
1591 P ESN008 Eosinophilic Pneumonia 50
1592 c FNC029 Fanconi Anemia, Complementation Group I 50
1593 PLR001 Pleural Tuberculosis 50
1594 P DRM007 Dermatitis Herpetiformis 50
1595 P CTN003 Cutaneous Lupus Erythematosus 50
1596 LPD009 Lipid Storage Disease 49
1597 HPR003 Heparin-Induced Thrombocytopenia 49
1598 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 49
1599 SPL012 Splenic Disease 48
1600 IMM184 Immunodeficiency 17 48
1601 P CNG003 Congenital Dyserythropoietic Anemia 47
1602 CMB081 Combined Immunodeficiency, X-Linked 47
1603 GRN017 Granulocytopenia 46
1604 c RCR022 Recurrent Acute Pancreatitis 46
1605 CMP004 Complement Factor I Deficiency 46
1606 MLT113 Multicentric Castleman Disease 46
1607 c CHR037 Chronic Eosinophilic Pneumonia 46
1608 c FNC032 Fanconi Anemia, Complementation Group B 45
1609 c FNC030 Fanconi Anemia, Complementation Group G 45
1610 c SPR009 Sporadic Breast Cancer 45
1611 MLK006 Milk Allergy 44
1612 ADN001 Adenosine Deaminase Deficiency 44
1613 EVN001 Evans' Syndrome 44
1614 c OST136 Osteopetrosis, Autosomal Recessive 7 43
1615 c RNG023 Ring Chromosome 7 43
1616 P RNG032 Ring Chromosome 43
1617 IMM082 Immunodeficiency 18 43
1618 CD4003 Cd40 Ligand Deficiency 43
1619 IMM105 Immunodeficiency with Hyper-Igm, Type 3 43
1620 ART006 Arthus Reaction 43
1621 P HYP073 Hypersensitivity Reaction Type Iv Disease 42
1622 c ATM101 Autoimmune Gastritis 42
1623 P PLM025 Pulmonary Venoocclusive Disease 42
1624 c OST129 Osteopetrosis, Autosomal Recessive 2 42
1625 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 41
1626 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
1627 MNK002 Monkeypox 40
1628 MKL001 Mikulicz Disease 40
1629 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 40
1630 FRM003 Farmer's Lung 40
1631 NRS005 Neurosarcoidosis 39
1632 c OST126 Osteopetrosis, Autosomal Recessive 1 39
1633 SKN006 Skin Sarcoidosis 39
1634 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 38
1635 c ACQ042 Acquired Hemophilia a 38
1636 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 36
1637 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 36
1638 c OST134 Osteopetrosis, Autosomal Recessive 6 36
1639 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 36
1640 c DRM040 Dermatitis Herpetiformis, Familial 36
1641 c ATS282 Autosomal Recessive Malignant Osteopetrosis 36
1642 c ELL005 Elliptocytosis 2 35
1643 c ATM100 Autoimmune Optic Neuritis 35
1644 IMM131 Immunodeficiency with Hyper-Igm, Type 4 35
1645 c RNG020 Ring Chromosome 4 34
1646 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 34
1647 NCK004 Nickel Allergic Contact Dermatitis 34
1648 c DMN021 Diamond-Blackfan Anemia 6 34
1649 c SBC035 Subacute Cutaneous Lupus Erythematosus 34
1650 ACT114 Acute Myeloblastic Leukemia Without Maturation 34
1651 FLC001 Folic Acid Deficiency Anemia 34
1652 SCL025 Scleromyxedema 34
1653 c RNG004 Ring Chromosome 1 34
1654 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 34
1655 c ELL006 Elliptocytosis 3 34
1656 c ATM098 Autoimmune Peripheral Neuropathy 32
1657 THY007 Thymus Lipoma 32
1658 CYT004 Cytomegalic Inclusion Disease 32
1659 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 32
1660 c ELL010 Elliptocytosis 1 31
1661 c OST125 Osteopetrosis, Autosomal Dominant 1 31
1662 c RNG029 Ring Chromosome 14 Syndrome 31
1663 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 31
1664 LYM023 Lymphatic System Cancer 30
1665 c RNG018 Ring Chromosome 22 29
1666 c RNG008 Ring Chromosome 13 29
1667 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 29
1668 PLM049 Plummer Vinson Syndrome 29
1669 c RNG005 Ring Chromosome 10 28
1670 QLT001 Qualitative Platelet Defect 28
1671 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
1672 RTC001 Reticulohistiocytic Granuloma 28
1673 c ALP005 Alpha Chain Disease 28
1674 c RNG022 Ring Chromosome 6 28
1675 c RNG016 Ring Chromosome 20 28
1676 c DMN017 Diamond-Blackfan Anemia 10 28
1677 c RNG010 Ring Chromosome 15 27
1678 c RNG015 Ring Chromosome 2 27
1679 c OST120 Osteopetrosis, Autosomal Recessive 5 27
1680 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
1681 c OST137 Osteopetrosis, Autosomal Recessive 4 27
1682 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 27
1683 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 26
1684 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 26
1685 c JVN011 Juvenile Dermatitis Herpetiformis 26
1686 MXD027 Mixed Type Thymoma 26
1687 PLL016 Palladium Allergic Contact Dermatitis 26
1688 c RNG017 Ring Chromosome 21 26
1689 c DMN006 Diamond-Blackfan Anemia 3 26
1690 CMP060 Complement Component 9 Deficiency 26
1691 c RNG007 Ring Chromosome 12 25
1692 c DMN022 Diamond-Blackfan Anemia 9 25
1693 c DMN018 Diamond-Blackfan Anemia 5 25
1694 c FML270 Familial Cold Autoinflammatory Syndrome 4 25
1695 c DMN019 Diamond-Blackfan Anemia 4 25
1696 c DMN024 Diamond-Blackfan Anemia 7 25
1697 c RNG013 Ring Chromosome 18 25
1698 SPL001 Spleen Angiosarcoma 24
1699 PDT045 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections 24
1700 c DMN020 Diamond-Blackfan Anemia 8 24
1701 c FML344 Familial Mediterranean Fever, Autosomal Dominant 24
1702 c RNG021 Ring Chromosome 5 24
1703 c DMN005 Diamond-Blackfan Anemia 2 24
1704 CMP092 Complement Component 8 Deficiency, Type Ii 24
1705 THY027 Thymus Squamous Cell Carcinoma 24
1706 c RNG024 Ring Chromosome 8 23
1707 c WSK002 Wiskott-Aldrich Syndrome 2 23
1708 c OST106 Osteopetrosis, Autosomal Recessive 8 23
1709 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1710 P FML337 Familial Chilblain Lupus 23
1711 ATM016 Autoimmune Disease of Skin and Connective Tissue 23
1712 c ANM034 Anemia, Sideroblastic, 4 23
1713 c DMN029 Diamond-Blackfan Anemia 11 22
1714 c RNG019 Ring Chromosome 3 22
1715 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 22
1716 c DMN028 Diamond-Blackfan Anemia 12 21
1717 c OST171 Osteopetrosis, Autosomal Dominant 3 21
1718 LWS001 Lewis-Sumner Syndrome 21
1719 PLM015 Pulmonary Systemic Sclerosis 20
1720 c RNG025 Ring Chromosome 9 20
1721 c CHL114 Chilblain Lupus 2 20
1722 c ATM105 Autoimmune Disease of Peripheral Nervous System 20
1723 c RNG012 Ring Chromosome 17 20
1724 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 20
1725 ACC005 Accessory Pancreas 20
1726 c DMN030 Diamond-Blackfan Anemia 13 20
1727 c CHR686 Chronic Cutaneous Lupus Erythematosus 19
1728 P RRP027 Rare Peripheral Neuropathy 19
1729 c TYP010 Type C Thymoma 19
1730 c RNG006 Ring Chromosome 11 19
1731 c DMN047 Diamond-Blackfan Anemia 18 19
1732 RHN014 Rh-Null, Amorph Type 19
1733 c RRH032 Rare Hemolytic Anemia 19
1734 THY006 Thymus Lymphoma 19
1735 c DMN039 Diamond-Blackfan Anemia 17 18
1736 c DMN040 Diamond-Blackfan Anemia 16 18
1737 c DMN045 Diamond-Blackfan Anemia-Like 18
1738 c ATM063 Autoimmune Pancreatitis Type 2 17
1739 c RNG014 Ring Chromosome 19 17
1740 c DMN049 Diamond-Blackfan Anemia 20 17
1741 c RNG011 Ring Chromosome 16 17
1742 c DMN048 Diamond-Blackfan Anemia 19 15
1743 c BCT005 Bacterial Gastritis 15
1744 c ACQ054 Acquired Peripheral Neuropathy 14
1745 P THY005 Thymus Large Cell Carcinoma 13
1746 c RNG031 Ring Chromosome Y Syndrome 13
1747 c RRC001 Rare Cutaneous Lupus Erythematosus 12
1748 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 12
1749 c ACQ036 Acquired Angioedema Type 2 12
1750 CHR679 Chromium Allergic Contact Dermatitis 11
1751 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 11
1752 c VRL009 Viral Gastritis 10
1753 c RRC006 Rare Acquired Hemolytic Anemia 9
1754 HRD208 Hereditary Angioedema with C1inh Deficiency 9
1755 FRM010 Formaldehyde Allergic Contact Dermatitis 8
1756 c RRR007 Rare Urticaria 7
1757 c HRD100 Hereditary Lymphedema Ic 7
1758 CBL009 Cobalt Allergic Contact Dermatitis 7
1759 INT035 Intrapelvic Lymph Node Leukemic Reticuloendotheliosis 6
1760 OCC014 Occupational Allergic Alveolitis 6
1761 c MLG040 Malignant Type Ab Thymoma 6
1762 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
1763 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 6
1764 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
1765 LYM016 Lymph Node Palisaded Myofibroblastoma 5
1766 c HML056 Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes 5
1767 c HML057 Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies 5
1768 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
1769 BNZ004 Benzoic Acid Allergic Contact Dermatitis 5
1770 PTS020 Potassium Dichromate Allergic Contact Dermatitis 5
1771 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 5
1772 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 5
1773 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 5
1774 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 5
1775 ANG069 Angpt1-Related Hereditary Angioedema with Normal C1inh 5
1776 HSL001 House Allergic Alveolitis 4
1777 MRP005 Meropenem Allergy 4
1778 ISC018 Isocyanates Allergic Asthma 4
1779 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
1780 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 4
1781 NCK003 Nickel Allergic Asthma 4
1782 MLC007 Maleic Anhydride Allergic Asthma 4
1783 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
1784 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 4
1785 CBL010 Cobalt Allergic Asthma 4
1786 CRV076 Carvone Allergic Contact Dermatitis 4
1787 PRT137 Parthenolide Allergic Contact Dermatitis 4
1788 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 4
1789 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 4
1790 c INF178 Infectious Disease with Peripheral Neuropathy 4
1791 c RRH001 Rare Hereditary Disease with Peripheral Neuropathy 4
1792 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
1793 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
1794 c RRH019 Rare Hereditary Systemic Disease with Peripheral Neuropathy 3
1795 ABD004 Abdominal Tuberculosis 33
1796 MYL031 Myeloproliferative Neoplasm 66
1797 MRK001 Merkel Cell Carcinoma 62
1798 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 51
1799 WTL002 Wt Limb-Blood Syndrome 23
1800 c SYS001 Systemic Lupus Erythematosus 88
1801 c FNC027 Fanconi Anemia, Complementation Group a 81
1802 DFC004 Deficiency Anemia 77
1803 SVR004 Severe Combined Immunodeficiency 74
1804 c HPT073 Hepatitis C Virus 74
1805 P HPT021 Hepatitis 69
1806 c HMP029 Hemophilia a 69
1807 P CNJ013 Conjunctivitis 67
1808 c HMP004 Hemophilia B 66
1809 OMN001 Omenn Syndrome 66
1810 c FNC043 Fanconi Anemia, Complementation Group E 64
1811 c HPT016 Hepatitis B 63
1812 c ATM011 Autoimmune Hepatitis 63
1813 c HPT001 Hepatitis C 62
1814 DGR001 Digeorge Syndrome 61
1815 c DNG003 Dengue Disease 61
1816 THR100 Thrombocytopenic Purpura, Autoimmune 61
1817 LNG108 Langerhans Cell Histiocytosis 60
1818 c HPT003 Hepatitis a 60
1819 c HRD002 Hereditary Angioedema 59
1820 EXT034 Extrinsic Allergic Alveolitis 58
1821 P HMP007 Hemophilia 58
1822 TNS005 Tonsillitis 58
1823 P DNG005 Dengue Virus 57
1824 ALL010 Allergic Contact Dermatitis 56
1825 c VRL010 Viral Hepatitis 56
1826 P FNC044 Fanconi Anemia, Complementation Group C 56
1827 HNC001 Henoch-Schoenlein Purpura 56
1828 P ANG015 Angioedema 54
1829 CMB003 Combined T Cell and B Cell Immunodeficiency 53
1830 c HPT007 Hepatitis E 53
1831 RTC002 Reticular Dysgenesis 52
1832 FDL002 Food Allergy 52
1833 ERD001 Erdheim-Chester Disease 51
1834 ONC002 Onchocerciasis 50
1835 DSM007 Desmoplastic Small Round Cell Tumor 50
1836 c HPT015 Hepatitis D 49
1837 SCH002 Schnitzler Syndrome 49
1838 c FNC045 Fanconi Anemia, Complementation Group F 48
1839 CRY004 Cryoglobulinemia 47
1840 CTS002 Cat-Scratch Disease 47
1841 c ACQ014 Acquired Hemophilia 47
1842 IGG007 Igg4-Related Disease 46
1843 SYD002 Sydenham Chorea 44
1844 SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 44
1845 c FNC048 Fanconi Anemia, Complementation Group O 44
1846 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 44
1847 IMM081 Immunodeficiency 19 43
1848 c GMM003 Gamma Heavy Chain Disease 43
1849 c JVN003 Juvenile Xanthogranuloma 43
1850 c CHR086 Chronic Conjunctivitis 42
1851 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 41
1852 IMM154 Immunoglobulin a Deficiency 1 41
1853 c FNC057 Fanconi Anemia, Complementation Group U 41
1854 DND018 Dendritic Cell Tumor 41
1855 c FNC023 Fanconi Anemia, Complementation Group N 41
1856 CMP007 Complement Component 5 Deficiency 39
1857 GCH018 Gaucher Disease, Perinatal Lethal 39
1858 c ACQ012 Acquired Angioedema 37
1859 c ACT067 Acute Conjunctivitis 36
1860 ANS003 Anisakiasis 36
1861 TRN030 Transient Erythroblastopenia of Childhood 35
1862 c FNC058 Fanconi Anemia, Complementation Group R 35
1863 c BCT006 Bacterial Conjunctivitis 34
1864 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 34
1865 ATY012 Atypical Mycobacteriosis, Familial 34
1866 c FNC062 Fanconi Anemia, Complementation Group S 34
1867 c FNC056 Fanconi Anemia, Complementation Group V 33
1868 c HRD206 Hereditary Lymphedema Ii 32
1869 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 31
1870 PRD001 Predominantly Cortical Thymoma 28
1871 THY024 Thymus Adenocarcinoma 27
1872 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 27
1873 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 25
1874 ZNC004 Zinc Deficiency, Transient Neonatal 25
1875 c FNC061 Fanconi Anemia, Complementation Group W 24
1876 MNC020 Monoclonal Mast Cell Activation Syndrome 23
1877 HYP692 Hypersensitivity Pneumonitis, Familial 22
1878 ALL002 Allergic Cutaneous Vasculitis 18
1879 DND003 Dendritic Cell Thymoma 18
1880 THY017 Thymus Sarcomatoid Carcinoma 14
1881 THY011 Thymus Basaloid Carcinoma 14
1882 c RRL001 Rare Lichen Planus 12
1883 c THY008 Thymus Small Cell Carcinoma 12
1884 INT057 Intra-Abdominal Lymph Node Mast Cell Malignancy 6
1885 SPL010 Splenic Manifestation of Hairy Cell Leukemia 6
1886 LYM108 Lymph Node Adenoid Cystic Carcinoma 5
1887 c RRC026 Rare Conjunctivitis 4
1888 RRL004 Rare Allergic Respiratory Disease 4
1889 P GST053 Gastric Cancer 85
1890 c HRD215 Hereditary Gastric Cancer 23
1891 SCK003 Sickle Cell Anemia 74
1892 P BLD124 Bleeding Disorder, Platelet-Type, 11 66
1893 BLL006 Bullous Pemphigoid 63
1894 SVR066 Severe Combined Immunodeficiency, X-Linked 62
1895 P LPS004 Lupus Erythematosus 62
1896 SRC027 Sarcoma, Synovial 60
1897 FCT002 Factor Xi Deficiency 59
1898 OCL009 Ocular Cancer 59
1899 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 58
1900 P FML052 Familial Cold Autoinflammatory Syndrome 58
1901 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1902 PRM236 Primary Biliary Cholangitis 57
1903 c ANG068 Angioedema, Hereditary, Type I 57
1904 VSC003 Visceral Leishmaniasis 55
1905 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 55
1906 PRC002 Paracoccidioidomycosis 55
1907 LKC005 Leukocyte Adhesion Deficiency, Type Iii 53
1908 ATR002 Atransferrinemia 53
1909 THY022 Thymic Carcinoma 52
1910 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 51
1911 TRN022 Transcobalamin Ii Deficiency 50
1912 PRN001 Purine Nucleoside Phosphorylase Deficiency 50
1913 ANS011 Anus Cancer 49
1914 RTC005 Reticulosarcoma 48
1915 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 47
1916 CMP028 Complement Component 2 Deficiency 46
1917 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
1918 ANG049 Angioedema Induced by Ace Inhibitors 41
1919 c LYM107 Lymphoproliferative Syndrome 2 41
1920 TNP004 Tn Polyagglutination Syndrome 41
1921 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 39
1922 c SYS043 Systemic Lupus Erythematosus 1 39
1923 c ACR092 Aicardi-Goutieres Syndrome 5 38
1924 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38
1925 c ACR090 Aicardi-Goutieres Syndrome 2 37
1926 c BLD152 Bleeding Disorder, Platelet-Type, 16 36
1927 c SYS061 Systemic Lupus Erythematosus 16 36
1928 LYM020 Lymph Node Cancer 35
1929 P GLM015 Glomerulopathy with Fibronectin Deposits 2 34
1930 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 32
1931 GHS005 Ghosal Hematodiaphyseal Dysplasia 31
1932 c BLD156 Bleeding Disorder, Platelet-Type, 14 29
1933 c BLD154 Bleeding Disorder, Platelet-Type, 12 28
1934 c BLD120 Bleeding Disorder, Platelet-Type, 8 27
1935 GRN032 Granulomatous Slack Skin Disease 27
1936 NCR009 Necrobiotic Xanthogranuloma 27
1937 SPL011 Spleen Cancer 27
1938 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 25
1939 c BLD125 Bleeding Disorder, Platelet-Type, 17 25
1940 c SYS038 Systemic Lupus Erythematosus 2 25
1941 c BLD157 Bleeding Disorder, Platelet-Type, 9 25
1942 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
1943 c BLD127 Bleeding Disorder, Platelet-Type, 19 23
1944 c BLD126 Bleeding Disorder, Platelet-Type, 18 22
1945 c SYS040 Systemic Lupus Erythematosus 10 22
1946 c BLD123 Bleeding Disorder, Platelet-Type, 13 22
1947 c SYS046 Systemic Lupus Erythematosus 3 21
1948 c BLD132 Bleeding Disorder, Platelet-Type, 21 21
1949 c SYS053 Systemic Lupus Erythematosus 5 21
1950 c BLD121 Bleeding Disorder, Platelet-Type, 15 21
1951 c SYS069 Systemic Lupus Erythematosus 6 21
1952 c BLD133 Bleeding Disorder, Platelet-Type, 20 20
1953 c SYS051 Systemic Lupus Erythematosus 4 20
1954 c SYS041 Systemic Lupus Erythematosus 9 20
1955 c GLM014 Glomerulopathy with Fibronectin Deposits 1 19
1956 c SYS065 Systemic Lupus Erythematosus 11 18
1957 c SYS055 Systemic Lupus Erythematosus 12 16
1958 c SYS048 Systemic Lupus Erythematosus 8 16
1959 c SYS052 Systemic Lupus Erythematosus 13 16
1960 c SYS047 Systemic Lupus Erythematosus 7 15
1961 c BLD168 Bleeding Disorder, Platelet-Type, 22 14
1962 c SYS045 Systemic Lupus Erythematosus 14 13
1963 EPL008 Epilepsy Occipital Calcifications 13
1964 c SYS067 Systemic Lupus Erythematosus 15 13
1965 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 11
1966 ALL005 Allergic Contact Dermatitis of Eyelid 7
1967 P BRL012 Bare Lymphocyte Syndrome, Type Ii 66
1968 MST024 Mastocytosis, Cutaneous 65
1969 MGK001 Megakaryocytic Leukemia 65
1970 HSH003 Hashimoto Thyroiditis 63
1971 CHR063 Chronic Mucocutaneous Candidiasis 59
1972 P HML001 Hemolytic-Uremic Syndrome 54
1973 HYP074 Hypersensitivity Vasculitis 52
1974 P FML068 Familial Hypocalciuric Hypercalcemia 50
1975 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 50
1976 MYL003 Myeloid Sarcoma 50
1977 MLK003 Melkersson-Rosenthal Syndrome 50
1978 ESN015 Eosinophilic Fasciitis 48
1979 HNN001 Hennekam Syndrome 47
1980 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 46
1981 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 46
1982 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 45
1983 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 44
1984 c BRL011 Bare Lymphocyte Syndrome, Type I 44
1985 LYM008 Lymphangiosarcoma 42
1986 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1987 c FML117 Familial Cold Autoinflammatory Syndrome 2 40
1988 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 37
1989 VBR001 Vibratory Urticaria 35
1990 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 28
1991 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 18
1992 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 15
1993 THY010 Thymus Mucoepidermoid Carcinoma 15
1994 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
1995 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 11
1996 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1997 P HRM001 Hermansky-Pudlak Syndrome 64
1998 LPD008 Lipid Metabolism Disorder 64
1999 THY025 Thymus Cancer 55
2000 c HRM005 Hermansky-Pudlak Syndrome 1 54
2001 c HRM017 Hermansky-Pudlak Syndrome 2 54
2002 HYP088 Hyper-Igd Syndrome 51
2003 c HRM008 Hermansky-Pudlak Syndrome 5 51
2004 c HRM006 Hermansky-Pudlak Syndrome 3 50
2005 c FNC024 Fanconi Anemia, Complementation Group D1 48
2006 LMT001 Limited Scleroderma 48
2007 SML031 Small Cell Carcinoma of the Bladder 45
2008 c HRM009 Hermansky-Pudlak Syndrome 6 43
2009 c FML253 Familial Cold Autoinflammatory Syndrome 3 41
2010 PRG008 Paragonimiasis 39
2011 c HRM012 Hermansky-Pudlak Syndrome 9 39
2012 c HRM011 Hermansky-Pudlak Syndrome 8 39
2013 c HRM007 Hermansky-Pudlak Syndrome 4 38
2014 c HRM010 Hermansky-Pudlak Syndrome 7 35
2015 PRT112 Portal Hypertension, Noncirrhotic 31
2016 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 29
2017 P MDL005 Medulloblastoma 78
2018 P CHR012 Chronic Granulomatous Disease 69
2019 c AFB002 Afibrinogenemia, Congenital 62
2020 P EPD083 Epidermodysplasia Verruciformis 1 59
2021 P AFB001 Afibrinogenemia 49
2022 c ADL023 Adult Medulloblastoma 41
2023 LKC009 Leukocyte Adhesion Deficiency, Type I 64



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