Immune Diseases Category (2290 diseases)


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

# Family MCID Name MIFTS
1 c LYM144 Lymphatic Malformation 1 48
2 P NJM001 Nijmegen Breakage Syndrome 73
3 IMM240 Immunodeficiency 14a, Autosomal Dominant 55
4 c LYM145 Lymphatic Malformation 5 52
5 CPL002 Capillary Lymphangioma 42
6 IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 51
7 P LKM071 Leukemia, Chronic Lymphocytic 75
8 c LKM056 Leukemia, Chronic Lymphocytic 2 52
9 LYM009 Lymphocytic Choriomeningitis 45
10 LYM048 Lymphoma, Large-Cell, Immunoblastic 30
11 LYM126 Lymphoma Aids Related 45
12 SPC022 Specific Antibody Deficiency 27
13 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 48
14 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 40
15 CMB081 Combined Immunodeficiency, X-Linked 41
16 DFF027 Diffuse Lymphatic Malformation 25
17 LYM022 Lymphangioma 58
18 CYS002 Cystic Lymphangioma 45
19 YLL001 Yellow Nail Syndrome 42
20 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 36
21 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 32
22 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 26
23 c PRM226 Primary Central Nervous System Lymphoma 49
24 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 40
25 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 56
26 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 35
27 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 30
28 HMN044 Human Immunodeficiency Virus Type 1 75
29 SCH016 Schimke Immunoosseous Dysplasia 61
30 c LYM149 Lymphatic Malformation 6 34
31 HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 43
32 IMM068 Immunodeficiency 8 33
33 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 29
34 ALK017 Alk-Positive Large B-Cell Lymphoma 25
35 PCM003 Pauci-Immune Glomerulonephritis Without Anca 12
36 PZ1002 Piezo1-Related Generalized Lymphatic Dysplasia with Non-Immune Hydrops Fetalis 8
37 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 53
38 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 43
39 CHL073 Cholestasis-Lymphedema Syndrome 41
40 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 23
41 CNM001 Canomad Syndrome 18
42 P GRS003 Griscelli Syndrome 56
43 c GRS014 Griscelli Syndrome, Type 2 53
44 c GRS013 Griscelli Syndrome, Type 1 48
45 CHL152 Childhood Acute Lymphocytic Leukemia 45
46 DCK002 Dock8 Immunodeficiency Syndrome 44
47 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 43
48 c GRS012 Griscelli Syndrome, Type 3 40
49 KMR001 Kimura Disease 40
50 c LYM150 Lymphatic Malformation 7 34
51 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 28
52 WRM004 Warm Antibody Hemolytic Anemia 22
53 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
54 IMM025 Immunoglobulin a Deficiency 2 21
55 c MYL058 Myeloproliferative Syndrome, Transient 51
56 RDD003 Riddle Syndrome 50
57 ASP026 Asplenia, Isolated Congenital 43
58 c LYM147 Lymphatic Malformation 3 24
59 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 23
60 P 8P1002 8p11 Myeloproliferative Syndrome 22
61 WND002 Wandering Spleen 22
62 IMM130 Immunoneurologic Disorder, X-Linked 18
63 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 16
64 c MYL070 Myeloproliferative Disease, Autosomal Recessive 9
65 PST046 Post-Transplant Lymphoproliferative Disease 35
66 IMM039 Immune Hydrops Fetalis 35
67 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 33
68 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 33
69 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30
70 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 29
71 c FLL041 Follicular Lymphoma 1 28
72 IMM253 Immunodeficiency 60 and Autoimmunity 28
73 c LYM148 Lymphatic Malformation 4 24
74 TBS010 T-B- Severe Combined Immunodeficiency 20
75 IMM218 Immunodeficiency 65 Viral Infections 19
76 IMM231 Immune Dysregulation and Systemic Hyperinflammation Syndrome 18
77 IMM051 Immunotactoid or Fibrillary Glomerulopathy 15
78 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 13
79 MYL079 Myeloid and Lymphoid Neoplasms Associated with Pdgfrb Rearrangement 11
80 EPH004 Ephb4-Related Lymphatic-Related Hydrops Fetalis 7
81 P LKM062 Leukemia, Acute Lymphoblastic 69
82 LYM138 Lymphoblastic Leukemia, Acute, with Lymphomatous Features 50
83 c LKM060 Leukemia, Acute Lymphoblastic 3 43
84 IMM222 Immunodeficiency 67 43
85 CLD007 Cold Agglutinin Disease 38
86 RFM001 Roifman Syndrome 37
87 KKC001 Kikuchi Disease 37
88 c LYM151 Lymphoproliferative Syndrome 3 32
89 IMM263 Immunodeficiency 98 with Autoinflammation, X-Linked 28
90 NDL020 Nodal Marginal Zone B-Cell Lymphoma 27
91 IMM243 Immunodeficiency 80 with or Without Congenital Cardiomyopathy 23
92 CNG101 Congenital Human Immunodeficiency Virus 20
93 c LKM055 Leukemia, Acute Lymphoblastic 2 17
94 IMM254 Immunodeficiency 86 16
95 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
96 LYM027 Lymphopenia 56
97 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 35
98 CHN040 Choanal Atresia and Lymphedema 23
99 IMM276 Immunodeficiency 105 23
100 ORB020 Orbital Lymphoma 21
101 ABD007 Abdominal Cystic Lymphangioma 17
102 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
103 PCM004 Pauci-Immune Glomerulonephritis with Anca 6
104 LYM004 Lymphoid Interstitial Pneumonia 58
105 LYM019 Lymphosarcoma 41
106 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 37
107 INT221 Intravascular Large B-Cell Lymphoma 36
108 FCL083 Ficolin 3 Deficiency 28
109 ATN026 Autoinflammatory Syndrome, Familial, with or Without Immunodeficiency 24
110 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 23
111 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 20
112 HYD045 Hydroa Vacciniforme-Like Lymphoma 17
113 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 16
114 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 15
115 GST107 Gastric Non-Hodgkin Lymphoma 12
116 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 46
117 LYM042 Lymphocytic Colitis 41
118 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 39
119 IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 36
120 LRG008 Large Granular Lymphocyte Leukemia 27
121 IMM053 Immunotactoid Glomerulopathy 25
122 IMM133 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 24
123 UNC014 Unicentric Castleman Disease 24
124 IMM147 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 23
125 CLN010 Colonic Lymphangioma 23
126 DBT018 Diabetic Mastopathy 18
127 c BLY013 B-Lymphoblastic Leukemia/lymphoma with T 15
128 LYM117 Lymphocytic Hypereosinophilic Syndrome 12
129 IMM215 Immunodeficiency-Associated Lymphoproliferative Disease 12
130 c LKM053 Leukemia, Chronic Lymphocytic 4 11
131 IMM023 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 10
132 NRM026 Neuromyelitis Optica Spectrum Disorder with Anti-Mog Antibodies 7
133 NRM027 Neuromyelitis Optica Spectrum Disorder Without Anti-Mog and Without Anti-Aqp4 Antibodies 5
134 NRM025 Neuromyelitis Optica Spectrum Disorder with Anti-Aqp4 Antibodies 5
135 ACT252 Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies 5
136 NNS152 Non-Specific Autoimmune Brainstem Encephalitis with Characteristic Antibodies 4
137 NNS153 Non-Specific Autoimmune Brainstem Encephalitis Without Characteristic Antibodies 4
138 P PRM327 Primary Lymphedema 40
139 IMM100 Immunoglobulin Kappa Light Chain Deficiency 38
140 c CNG439 Congenital Lymphedema 33
141 LYM011 Lymphogranuloma Venereum 33
142 LYM035 Lymphangiectasis 32
143 IMM249 Immunodeficiency 83 Viral Infections 28
144 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 26
145 IMM247 Immunoglobulin Heavy Chain Amyloidosis 24
146 TCL026 T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 24
147 ATN023 Autoinflammation with Episodic Fever and Lymphadenopathy 24
148 IMM277 Immunodeficiency 106 Viral Infections 24
149 IMM233 Immunodeficiency 76 23
150 CHR730 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsiv 23
151 c LYM159 Lymphatic Malformation 10 21
152 c GRW042 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 21
153 IMM251 Immunodeficiency 85 and Autoimmunity 21
154 c PLM195 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 20
155 ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 18
156 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 18
157 IMM258 Immunodeficiency 88 17
158 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 16
159 LYM044 Lymphocytic Infiltrate of Jessner 12
160 IGR001 Ige Responsiveness, Atopic 57
161 HYR002 Hoyeraal Hreidarsson Syndrome 50
162 NMD001 Nmda Receptor Encephalitis 38
163 IMM212 Immunodeficiency by Defective Expression of Mhc Class I 32
164 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 30
165 c AST055 Asthma-Related Traits 1 30
166 c ALP087 Alpha-Heavy Chain Disease 29
167 c AST034 Asthma-Related Traits 4 28
168 P AST056 Asthma-Related Traits 2 27
169 IMM232 Immunodeficiency 75 26
170 IMM267 Immunodeficiency 97 with Autoinflammation 22
171 CMB088 Combined Immunodeficiency Due to Partial Rag1 Deficiency 21
172 NKD001 Nik Deficiency 21
173 IMM264 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies 20
174 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 19
175 IMM268 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias 17
176 IMM250 Immunodeficiency 84 16
177 c LYM146 Lymphatic Malformation 2 16
178 IMM279 Immunodeficiency 107 Invasive Staphylococcus Aureus Infection 16
179 c AST057 Asthma-Related Traits 5 14
180 c AST032 Asthma-Related Traits 7 14
181 c ANP011 Anaplastic Small Cell Lymphoma 14
182 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 13
183 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 13
184 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12
185 c AST035 Asthma-Related Traits 6 11
186 PRM142 Primary Oculocerebral Lymphoma 11
187 c AST033 Asthma-Related Traits 3 10
188 PRM148 Primary Lymphoma of the Conjunctiva 10
189 MXD041 Mixed Cystic Lymphatic Malformation 9
190 c AST036 Asthma-Related Traits 8 9
191 IRN005 Irons Bhan Syndrome 8
192 SVR111 Severe Disseminated Cytomegalovirus Infection in Immunocompetent Patients 7
193 CNG614 Congenital Primary Lymphedema of Gordon 7
194 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 55
195 c HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 53
196 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 45
197 P BCL004 B-Cell Non-Hodgkin Lymphoma 41
198 ATM069 Autoimmune Hemolytic Anemia, Warm Type 36
199 IMM044 Immunoglobulin G Deficiency 33
200 IMM001 Immune-Complex Glomerulonephritis 32
201 P RRL003 Rare Lymphatic Malformation 31
202 LYM002 Lymphoplasmacyte-Rich Meningioma 29
203 P INH011 Inherited Bone Marrow Failure Syndromes 28
204 PRD048 Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome 27
205 c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 27
206 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
207 ATM106 Autoimmune Hemolytic Anemia, Cold Type 26
208 CMP075 Campomelia, Cumming Type 26
209 c HYP884 Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive 26
210 P MCR161 Macroglobulinemia, Waldenstrom 1 25
211 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 25
212 DFF007 Diffuse Infiltrative Lymphocytosis Syndrome 24
213 IMM162 Immunoglobulin E Concentration, Serum 24
214 NNS150 Non-Specific Autoimmune Cerebellar Ataxia Without Characteristic Antibodies 23
215 IMM255 Immunodeficiency 87 and Autoimmunity 21
216 c LYM155 Lymphatic Malformation 8 21
217 IND005 Indolent B Cell Lymphoma 20
218 IMM261 Immunodeficiency 92 20
219 LYM043 Lymphocytic Hypophysitis 20
220 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 19
221 IMM259 Immunodeficiency 89 and Autoimmunity 17
222 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 17
223 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 17
224 ZP7002 Zap-70 Deficiency 17
225 EPS047 Epstein-Barr Virus-Associated Malignant Lymphoproliferative Disorder 16
226 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 15
227 c BLY015 B-Lymphoblastic Leukemia/lymphoma with T(1;19)(q23;p13.3) 12
228 TCL006 T Cell Immunodeficiency Primary 11
229 IMM168 Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes 10
230 LYM140 Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 9
231 c MCR162 Macroglobulinemia, Waldenstrom 2 8
232 LMB053 Limbic Encephalitis with Lgi1 Antibodies 8
233 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
234 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 7
235 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 6
236 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
237 IMM269 Immune Deficiency Due to Impaired Neutrophil Phagocytosis and Migration 5
238 IMM217 Immunodeficiency Predominantly Affecting Antibody Production 5
239 FML368 Familial Hyperinflammatory Lymphoproliferative Immunodeficiency 5
240 ISL158 Isolated Optic Neuritis Without Anti-Mog Antibodies 4
241 ISL160 Isolated Optic Neuritis with Anti-Mog Antibodies 4
242 IDP098 Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy 4
243 ACT253 Acute Disseminated Encephalomyelitis Without Anti-Mog Antibodies 4
244 LYM154 Lymphoproliferative Disease Associated with Primary Immune Disease 4
245 ACT251 Acute Transverse Myelitis with Anti-Mog Antibodies 4
246 CYT016 Cytomegalovirus Disease in Patients with Impaired Cell Mediated Immunity Deemed at Risk 4
247 SPC020 Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells 4
248 IMM052 Immunodeficiency Due to Absence of Thymus 4
249 NNS155 Non-Specific Autoimmune Supratentorial Encephalitis Without Characteristic Antibodies 3
250 OTH016 Other Immunodeficiency Syndrome with Predominantly Antibody Defects 3
251 NNS151 Non-Specific Autoimmune Cerebellar Ataxia with Characteristic Antibodies 3
252 NNS154 Non-Specific Autoimmune Supratentorial Encephalitis with Characteristic Antibodies 3
253 c INF071 Inflammatory Bowel Disease 1 74
254 c INF037 Inflammatory Bowel Disease 54
255 HMN014 Human Immunodeficiency Virus Infectious Disease 53
256 P BWL003 Bowel Dysfunction 48
257 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 44
258 CMP042 Complement Factor H Deficiency 35
259 c INF076 Inflammatory Bowel Disease 18 35
260 c INF170 Inflammatory Bowel Disease 29 34
261 c INF093 Inflammatory Bowel Disease 14 33
262 c INF088 Inflammatory Bowel Disease 5 32
263 c INF161 Inflammatory Bowel Disease 28 31
264 c BNM010 Bone Marrow Failure Syndrome 1 31
265 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 31
266 c INF086 Inflammatory Bowel Disease 3 30
267 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
268 c INF160 Inflammatory Bowel Disease 17 29
269 c INF077 Inflammatory Bowel Disease 19 29
270 c INF089 Inflammatory Bowel Disease 6 29
271 BCL016 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 28
272 c BNM032 Bone Marrow Failure Syndrome 4 28
273 c INF193 Inflammatory Bowel Disease 30 27
274 c INF075 Inflammatory Bowel Disease 16 27
275 c INF072 Inflammatory Bowel Disease 11 27
276 KPS005 Kaposiform Lymphangiomatosis 27
277 c INF078 Inflammatory Bowel Disease 2 26
278 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 26
279 c INF082 Inflammatory Bowel Disease 23 25
280 SBC005 Subacute Lymphocytic Thyroiditis 25
281 c INF067 Inflammatory Bowel Disease 10 25
282 c BNM011 Bone Marrow Failure Syndrome 2 25
283 c INF092 Inflammatory Bowel Disease 9 24
284 c INF083 Inflammatory Bowel Disease 24 24
285 c HNN004 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 24
286 c INF068 Inflammatory Bowel Disease 13 24
287 c INF074 Inflammatory Bowel Disease 15 24
288 SPN425 Spondyloepimetaphyseal Dysplasia, Krakow Type 24
289 PRM379 Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome 24
290 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
291 IMM188 Immunodeficiency, Developmental Delay, and Hypohomocysteinemia 23
292 c HNN006 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 23
293 c INF079 Inflammatory Bowel Disease 20 23
294 c INF073 Inflammatory Bowel Disease 12 23
295 c BNM033 Bone Marrow Failure Syndrome 5 23
296 c INF162 Inflammatory Bowel Disease 25 22
297 c INF085 Inflammatory Bowel Disease 27 22
298 PRM128 Primary Cutaneous Follicle Center Lymphoma 21
299 c INF087 Inflammatory Bowel Disease 4 21
300 c BNM034 Bone Marrow Failure Syndrome 6 21
301 IMM270 Immunodeficiency 102 21
302 c INF090 Inflammatory Bowel Disease 7 20
303 IMM242 Immunodeficiency 14b, Autosomal Recessive 20
304 c WHM003 Whim Syndrome 2 20
305 c INF080 Inflammatory Bowel Disease 21 20
306 c INF081 Inflammatory Bowel Disease 22 19
307 c LYM158 Lymphatic Malformation 9 19
308 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 17
309 c INF091 Inflammatory Bowel Disease 8 17
310 c INF084 Inflammatory Bowel Disease 26 17
311 c LYM160 Lymphatic Malformation 11 17
312 ALP049 Alopecia Antibody Deficiency 11
313 c RRN022 Rare Inflammatory Bowel Disease 10
314 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
315 c ALP111 Alpi-Related Inflammatory Bowel Disease 4
316 P HYP086 Hypothyroidism 68
317 c CNG006 Congenital Hypothyroidism 64
318 MCR004 Macroglobulinemia 49
319 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 43
320 MSP001 Masp2 Deficiency 32
321 PRN032 Paraneoplastic Cerebellar Degeneration 30
322 OTF006 Otofaciocervical Syndrome 2, with T-Cell Deficiency 30
323 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28
324 PCM002 Pauci-Immune Glomerulonephritis 27
325 c CNT101 Central Congenital Hypothyroidism 26
326 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 26
327 c PRT258 Portal Hypertension, Noncirrhotic, 2 26
328 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 26
329 LYM095 Lymphangiomatosis 24
330 ALL014 Allergic Encephalomyelitis 23
331 c AGM028 Agammaglobulinemia 8b, Autosomal Recessive 23
332 P HYP885 Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant 23
333 GRM003 German Syndrome 21
334 PRM314 Primary Cutaneous Lymphoma 21
335 IMM244 Immunodeficiency 81 21
336 LYM053 Lymphomatous Thyroiditis 20
337 IMM265 Immunodeficiency 95 20
338 IMM238 Immunodeficiency 77 19
339 LRN007 Laron Syndrome with Immunodeficiency 19
340 ZP7001 Zap70-Related Severe Combined Immunodeficiency 19
341 PRM133 Primary Pulmonary Lymphoma 19
342 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 19
343 c PRM316 Primary Congenital Hypothyroidism 19
344 IMM278 Immunodeficiency 108 with Autoinflammation 19
345 SVR074 Severe Combined Immunodeficiency Due to Ikk2 Deficiency 18
346 CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18
347 BNM035 Bone Marrow Failure and Diabetes Mellitus Syndrome 18
348 c TRN047 Transient Congenital Hypothyroidism 16
349 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
350 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
351 IMM006 Immune System Organ Benign Neoplasm 14
352 IMM272 Immunodeficiency 101 14
353 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 13
354 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 12
355 NNT044 Neonatal Antiphospholipid Syndrome 12
356 ISL032 Isolated Bone Marrow Mastocytosis 12
357 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 12
358 c RRH009 Rare Hypothyroidism 12
359 c LYM141 Lymphoma, Hodgkin, X-Linked Pseudoautosomal 11
360 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 8
361 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
362 CMM026 Common Cystic Lymphatic Malformation 6
363 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 6
364 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
365 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
366 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
367 PRM134 Primary Laryngeal Lymphangioma 5
368 c RRD014 Rare Adult Hypothyroidism 4
369 P SRC025 Sarcoidosis 1 71
370 P ART022 Arthritis 68
371 P NTR004 Neutropenia 61
372 P SLM003 Salmonellosis 56
373 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
374 AGG002 Aggressive Systemic Mastocytosis 50
375 c SRC023 Sarcoidosis 2 50
376 c JVN061 Juvenile Arthritis 49
377 HYP088 Hyper-Igd Syndrome 48
378 SPL018 Splenomegaly 48
379 MNK002 Monkeypox 44
380 MNC006 Monoclonal Gammopathy of Uncertain Significance 43
381 MNN034 Mannose-Binding Lectin Deficiency 41
382 c SVR106 Severe Congenital Neutropenia 5 37
383 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
384 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
385 SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 33
386 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
387 c TRN014 Transient Arthritis 32
388 c SVR104 Severe Congenital Neutropenia 7 31
389 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
390 IGG009 Igg4-Related Ophthalmic Disease 29
391 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
392 c SVR109 Severe Congenital Neutropenia 8 28
393 CMB095 Combined T and B Cell Immunodeficiency 27
394 c TCL024 T-Cell Non-Hodgkin Lymphoma 27
395 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
396 c SVR108 Severe Congenital Neutropenia 6 25
397 PST007 Post-Vaccinal Encephalitis 24
398 NCR009 Necrobiotic Xanthogranuloma 24
399 WSS007 Wissler-Fanconi Syndrome 24
400 c PRM301 Primary Cutaneous T-Cell Lymphoma 23
401 WRT003 Warthin Tumor 23
402 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
403 LYM001 Lymphohistiocytoid Mesothelioma 23
404 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 23
405 IMM248 Immunoglobulin Heavy-and-Light Chain 23
406 c AGM025 Agammaglobulinemia 9, Autosomal Recessive 22
407 CRC034 Carcinoma Showing Thymus-Like Differentiation 22
408 c NTR045 Neutropenia, Chronic Familial 22
409 THY042 Thymic Epithelial Tumor 22
410 AGG011 Aggressive B-Cell Non-Hodgkin Lymphoma 22
411 SMP006 Simple Cryoglobulinemia 21
412 c SVR103 Severe Congenital Neutropenia 1 20
413 IND016 Indolent B-Cell Non-Hodgkin Lymphoma 19
414 P PRM299 Primary Cutaneous B-Cell Lymphoma 18
415 c SRC024 Sarcoidosis 3 18
416 LRB003 Lrba Deficiency 18
417 c ACQ053 Acquired Neutropenia 17
418 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
419 AGN017 Agenesis of the Corpus Callosum and Congenital Lymphedema 16
420 c SVR105 Severe Congenital Neutropenia 2 16
421 BCL019 B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome 15
422 IMM273 Immune-Mediated Cerebellar Ataxia 15
423 IMM165 Immunoglobulin Switch Sequences 15
424 IMM169 Immunoerythromyeloid Hypoplasia 14
425 MYL073 Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 14
426 IMM206 Immune Complex Mediated Vasculitis 14
427 NNS057 Non-Severe Combined Immunodeficiency 14
428 c ELN001 Elane-Related Neutropenia 13
429 MYS007 Myasthenia Gravis with Thymus Hyperplasia 12
430 ORB014 Orbital Lymphangioma 12
431 IMM171 Immunodeficiency with Defective T-Cell Response to Interleukin 1 12
432 SVR011 Severe Combined Immunodeficiency, Atypical 11
433 CLC061 Calcific Aortic Disease with Immunologic Abnormalities, Familial 11
434 IMM016 Immune Deficiency, Familial Variable 11
435 IMM173 Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein 11
436 LYM139 Lymphokine Deficiency 11
437 IMM175 Immunoglobulin M, Level of 10
438 ACQ046 Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome 10
439 LYM137 Lymphoid System Deterioration, Progressive 10
440 ANT089 Anti-Pit-1 Antibody Syndrome 10
441 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 9
442 ZP7003 Zap70-Related Combined Immunodeficiency 9
443 GMM010 Gamma-a-Globulin, Defect in Assembly of 9
444 VLV048 Vulvovaginitis, Allergic Seminal 9
445 IMM159 Immune Response to Synthetic Polypeptide--Irhgal 9
446 LYM136 Lymphoblastic Transformation, Intrinsic Defect in 8
447 PLY087 Polyradiculoneuropathy Associated with Igg/iga/igm Monoclonal Gammopathy Without Known Antibodies 8
448 IMM160 Immune Response to Synthetic Polypeptide--Irtgal 7
449 ADN063 Adenovirus Infection in Immunocompromised Patients 7
450 LYM134 Lymphoblastic Transformation, Inhibition of 7
451 LYM152 Lymphoid Hemopathy 7
452 c RRF001 Rare Form of Salmonellosis 7
453 INS031 Inosine Phosphorylase Deficiency, Immune Defect Due to 7
454 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 7
455 IMM170 Immunoglobulin D Level in Plasma, Low 6
456 ALK005 Alk+ Histiocytosis 6
457 ERL062 Early-Onset Autoimmunity-Autoinflammation-Immunodeficiency Syndrome 6
458 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 6
459 P LYM142 Lymphoma, Hodgkin, Y-Linked Pseudoautosomal 6
460 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 5
461 IMM216 Immunodeficiency Due to a Complement Cascade Protein Anomaly 5
462 CMB110 Combined Immunodeficiency Due to Rela Haploinsufficiency 5
463 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 5
464 VSC057 Vasculitis, Lymphocytic, Cutaneous Small Vessel 5
465 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
466 PRM300 Primary Immunodeficiency Due to a Defect in Adaptive Immunity 5
467 ATN020 Autoinflammatory Syndrome with Immune Deficiency 4
468 c TCL008 T-Cell Lymphoma 1a 4
469 PRM338 Primary Immunodeficiency Due to a Defect in Innate Immunity 4
470 DRR015 Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency 4
471 IMM155 Immune Response to Synthetic Polypeptide--Irphegal 4
472 TMR024 Tumor of Hematopoietic and Lymphoid Tissues 4
473 IMM205 Immunodeficiency Syndrome with Autoimmunity 4
474 IMM203 Immune Dysregulation Disease with Immunodeficiency 4
475 DVL133 Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome 4
476 GNT085 Genetic Immune Deficiency with Skin Involvement 4
477 c CNG612 Congenital Primary Lymphedema Without Systemic or Visceral Involvement 4
478 c LTN028 Late-Onset Primary Lymphedema Without Systemic or Visceral Involvement 4
479 DSR088 Disorder with Multisystemic Involvement and Primary Lymphedema 4
480 PRM347 Primary Lymphedema with Systemic or Visceral Involvement 4
481 IMM208 Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells 3
482 PRM313 Primary Organ-Specific Lymphoma 3
483 IMM207 Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells 3
484 MLG160 Malignant Lymphoma with Peripheral Neuropathy 3
485 IMM209 Immune-Mediated Acquired Neuromuscular Junction Disease 3
486 PRM326 Primary Immunodeficiency with Predisposition to Severe Viral Infection 3
487 IMM213 Immune Dysregulation with Inflammatory Bowel Disease 3
488 IMM210 Immunodeficiency Due to a Complement Cascade Component Deficiency 3
489 OTH017 Other Immunodeficiency Syndromes Due to Defects in Innate Immunity 3
490 IMM211 Immunodeficiency Due to a Complement Regulatory Deficiency 3
491 GNT137 Genetic Tumor of Hematopoietic and Lymphoid Tissues 3
492 FLL038 Follicular Lymphoreticuloma 1
493 c SYS001 Systemic Lupus Erythematosus 87
494 P ATX030 Ataxia-Telangiectasia 81
495 BHC003 Behcet Syndrome 74
496 P EPL164 Epilepsy 71
497 P LPR021 Leprosy 3 71
498 c SPN225 Spondyloarthropathy 1 70
499 P DYS007 Dyskeratosis Congenita 69
500 P MYS003 Myasthenia Gravis 69
501 c FNC043 Fanconi Anemia, Complementation Group E 68
502 c JVN010 Juvenile Rheumatoid Arthritis 66
503 P GRF003 Graft-Versus-Host Disease 65
504 P SJG008 Sjogren Syndrome 65
505 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 64
506 P VNW001 Von Willebrand's Disease 64
507 KWS002 Kawasaki Disease 63
508 c ALP101 Alpha-Thalassemia 63
509 P ACR001 Aicardi-Goutieres Syndrome 63
510 c ANM036 Anemia, Sideroblastic, 1 63
511 NRM001 Neuromyelitis Optica 62
512 PRN001 Purine Nucleoside Phosphorylase Deficiency 60
513 P GLM007 Glomerulonephritis 60
514 P ALP009 Alopecia Areata 59
515 P MYS005 Myositis 58
516 c PSR032 Psoriasis 11 57
517 RTC002 Reticular Dysgenesis 57
518 P HRD011 Hereditary Spherocytosis 56
519 P DFF005 Diffuse Large B-Cell Lymphoma 55
520 NTR018 Neutrophilia, Hereditary 54
521 c FNC029 Fanconi Anemia, Complementation Group I 54
522 FDL002 Food Allergy 53
523 c VNW010 Von Willebrand Disease, Type 2 53
524 P SPN052 Spondyloarthropathy 52
525 P SDR003 Sideroblastic Anemia 52
526 LMB002 Lambert-Eaton Myasthenic Syndrome 51
527 c PSR018 Psoriasis 13 51
528 c ACQ017 Acquired Von Willebrand Syndrome 50
529 c CHR417 Chronic Graft Versus Host Disease 50
530 HST010 Histiocytosis 49
531 c BNG023 Benign Familial Infantile Epilepsy 49
532 c ACT135 Acute Graft Versus Host Disease 49
533 P PRR002 Pure Red-Cell Aplasia 49
534 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
535 c VNW005 Von Willebrand Disease, Type 1 48
536 c VNW008 Von Willebrand Disease, Type 3 47
537 c ACR116 Aicardi-Goutieres Syndrome 1 47
538 c ANG071 Angioedema, Hereditary, 3 47
539 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 46
540 c TYP028 Type 1 Diabetes Mellitus 2 46
541 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 45
542 c SCN036 Secondary Progressive Multiple Sclerosis 45
543 c PSD048 Pseudo-Von Willebrand Disease 44
544 c ACQ010 Acquired Polycythemia 43
545 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 43
546 C1N001 C1 Inhibitor Deficiency 42
547 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
548 ELP001 Elephantiasis 41
549 c FNC052 Fanconi Anemia, Complementation Group T 41
550 c SPH013 Spherocytosis, Type 1 41
551 IMM099 Immunodeficiency 33 40
552 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 39
553 CMP009 Complement Deficiency 39
554 CRD003 Cardiac Sarcoidosis 39
555 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 39
556 c ACR091 Aicardi-Goutieres Syndrome 4 38
557 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 38
558 c ACR088 Aicardi-Goutieres Syndrome 3 38
559 c SPH016 Spherocytosis, Type 4 37
560 PRG090 Progressive Relapsing Multiple Sclerosis 37
561 PLY010 Polyclonal Hypergammaglobulinemia 37
562 c ACR092 Aicardi-Goutieres Syndrome 5 37
563 c ACR081 Aicardi-Goutieres Syndrome 6 36
564 NRW001 Norwegian Scabies 36
565 c TYP036 Type 1 Diabetes Mellitus 12 36
566 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 36
567 c ACR090 Aicardi-Goutieres Syndrome 2 36
568 TBR008 Tuberculous Peritonitis 35
569 PRN029 Parainfluenza Virus Type 3 35
570 PHG002 Phagocyte Bactericidal Dysfunction 35
571 c SPH014 Spherocytosis, Type 2 34
572 NRS005 Neurosarcoidosis 34
573 c ATM045 Autoimmune Glomerulonephritis 34
574 c ACR084 Aicardi-Goutieres Syndrome 7 33
575 c SPH015 Spherocytosis, Type 3 33
576 SCK001 Sick Building Syndrome 33
577 c TYP034 Type 1 Diabetes Mellitus 8 33
578 SPL009 Splenic Sequestration 33
579 SPL007 Splenic Abscess 32
580 c INF185 Infantile Epilepsy Syndrome 32
581 HYP110 Hyperproinsulinemia 31
582 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
583 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 31
584 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 30
585 c SPH017 Spherocytosis, Type 5 30
586 c TYP032 Type 1 Diabetes Mellitus 6 30
587 PRT025 Protein-Deficiency Anemia 30
588 P TRN016 Transient Hypogammaglobulinemia 29
589 c TYP056 Type 1 Diabetes Mellitus 23 29
590 c PSR025 Psoriasis 4 29
591 PTY004 Pityriasis Lichenoides 29
592 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 29
593 c ATM114 Autoimmune Epilepsy 29
594 CD4001 Cd45 Deficiency 28
595 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 28
596 c TYP033 Type 1 Diabetes Mellitus 7 28
597 c PSR026 Psoriasis 5 28
598 c CNG020 Congenital Hypogammaglobulinemia 27
599 c ACQ016 Acquired Pure Red Cell Aplasia 27
600 LMB004 Lambda 5 Deficiency 27
601 NKC002 Nk Cell Deficiency 27
602 c TYP035 Type 1 Diabetes Mellitus 11 27
603 P JVN059 Juvenile Ankylosing Spondylitis 27
604 c ACR124 Aicardi-Goutieres Syndrome 9 27
605 LCH013 Lichen Planus Pemphigoides 26
606 c TYP029 Type 1 Diabetes Mellitus 3 26
607 c LPR022 Leprosy 2 26
608 INT029 Interleukin-7 Receptor Alpha Deficiency 26
609 NTR027 Neutrophil Actin Dysfunction 26
610 CHR058 Chronic Congestive Splenomegaly 26
611 ATM009 Autoimmune Disease of Exocrine System 25
612 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 25
613 UVP001 Uveoparotid Fever 25
614 THY003 Thymic Dysplasia 24
615 c LPR023 Leprosy 1 24
616 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
617 c TYP039 Type 1 Diabetes Mellitus 17 24
618 c ACR123 Aicardi-Goutieres Syndrome 8 24
619 CHR276 Chronic Active Epstein-Barr Virus Infection 24
620 c TYP052 Type 1 Diabetes Mellitus 19 23
621 P ADL037 Adult Xanthogranuloma 23
622 c MLT094 Multiple Sclerosis 3 23
623 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 23
624 CRN011 Coronin-1a Deficiency 23
625 c MLT124 Multiple Sclerosis 5 23
626 c HYP871 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 23
627 ATM018 Autoimmune Disease of Urogenital Tract 22
628 DND003 Dendritic Cell Thymoma 22
629 SRC006 Sarcoid Meningitis 22
630 c SBC010 Subacute Glomerulonephritis 21
631 VRS001 Virus Associated Hemophagocytic Syndrome 21
632 ESN016 Eosinophilic Pustular Folliculitis 21
633 c PSR030 Psoriasis 8 21
634 DND022 Dendritic Cell Deficiency 21
635 DYS224 Dyskeratosis Congenita, Digenic 21
636 c ANM034 Anemia, Sideroblastic, 4 21
637 c ALP039 Alopecia Areata 1 21
638 EXR007 Exercise-Induced Anaphylaxis 21
639 c MLT093 Multiple Sclerosis 2 20
640 c AGM026 Agammaglobulinemia 10, Autosomal Dominant 20
641 c ADL084 Adult-Onset Myasthenia Gravis 20
642 c JVN038 Juvenile Myasthenia Gravis 20
643 MXD027 Mixed Type Thymoma 20
644 P MCH003 Mu Chain Disease 20
645 CD3001 Cd3zeta Deficiency 19
646 DFF010 Diffuse Alopecia Areata 19
647 c ANM079 Anemia, Sideroblastic, 5 19
648 P AMB005 Amoebiasis Due to Free-Living Amoebae 18
649 c VRL025 Viral Myositis 18
650 c LPR017 Leprosy 5 18
651 c MLT095 Multiple Sclerosis 4 18
652 c ALP040 Alopecia Areata 2 17
653 ATM103 Autoimmune Atherosclerosis 17
654 ATM023 Autoimmune Oophoritis 17
655 c RRP028 Rare Epilepsy 16
656 RHN014 Rh-Null, Amorph Type 16
657 c BCT018 Bacterial Myositis 16
658 c AMB008 Amoebiasis Due to Entamoeba Histolytica 16
659 ENC001 Encapsulated Thymoma 16
660 c PRM369 Primary Acquired Pure Red Cell Aplasia 15
661 c LPR016 Leprosy 4 15
662 c SPN226 Spondyloarthropathy 2 15
663 c ACQ036 Acquired Angioedema Type 2 14
664 c LPR020 Leprosy 6 14
665 c KCN020 Kcnt1-Related Epilepsy 14
666 MNC022 Monocyte, Dendritic Cell, and Nk Cell Deficiency 14
667 RCM002 Recombinase Activating Gene 1 Deficiency 14
668 RCM001 Recombinase Activating Gene 2 Deficiency 14
669 RHZ007 Rhizomelic Pseudopolyarthritis 14
670 JCC001 Jaccoud's Syndrome 14
671 c JVN047 Juvenile Spondyloarthropathy 13
672 c DPD002 Depdc5-Related Epilepsy 13
673 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 12
674 c EPB003 Epb42-Related Hereditary Spherocytosis 11
675 c DYS225 Dyskeratosis Congenita, Autosomal Recessive 8 11
676 c SPN256 Spondyloarthropathy 3 11
677 c AGM029 Agammaglobulinemia 7 9
678 HYP019 Hypercalcemic Sarcoidosis 9
679 c ACQ035 Acquired Angioedema Type 1 8
680 c AGM031 Agammaglobulinemia 9 7
681 c AGM033 Agammaglobulinemia 8b 5
682 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 5
683 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
684 TCL030 T Cell, B Cell, and Nk Cell Deficiency 5
685 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 5
686 BCL020 B Cell and Dendritic Cell Deficiency 4
687 c INF176 Infectious Disease with Epilepsy 4
688 c DLT001 Delta Chain Disease 3
689 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
690 LYM122 Lymphangiectasia, Pulmonary, Congenital 31
691 HYD038 Hydrops Fetalis, Nonimmune 62
692 BNM001 Bone Marrow Cancer 44
693 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45
694 AGG012 Aggressive Nk-Cell Leukemia 48
695 IMM274 Immunodeficiency 103 Fungal Infections 39
696 ENT008 Enteropathy-Associated T-Cell Lymphoma 34
697 P THR014 Thrombocytopenia 65
698 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 61
699 c ACQ005 Acquired Thrombocytopenia 41
700 c PRM225 Primary Thrombocytopenia 39
701 c THR037 Thrombocytopenia 2 37
702 c THR102 Thrombocytopenia 5 30
703 c THR048 Thrombocytopenia 4 30
704 c THR111 Thrombocytopenia 3 29
705 c THR110 Thrombocytopenia 6 27
706 c THR125 Thrombocytopenia 7 26
707 c ANK019 Ankrd26-Related Thrombocytopenia 19
708 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
709 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 27
710 P LYM124 Lymphangiectasia, Intestinal 34
711 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 31
712 c PRM158 Primary Intestinal Lymphangiectasia 36
713 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 32
714 P GRW041 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive 31
715 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 35
716 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 28
717 VSC052 Vasculitis, Lymphocytic, Nodular 24
718 P EPD083 Epidermodysplasia Verruciformis 1 58
719 IMM224 Immunodeficiency 68 37
720 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 27
721 c EPD086 Epidermodysplasia Verruciformis 4 26
722 c EPD085 Epidermodysplasia Verruciformis 3 25
723 c EPD084 Epidermodysplasia Verruciformis 2 23
724 c LKM052 Leukemia, Chronic Lymphocytic 5 11
725 c BLY014 B-Lymphoblastic Leukemia/lymphoma with T(12;21)(p13.2;q22.1) 7
726 P NPH012 Nephrotic Syndrome 61
727 c NPH055 Nephrotic Syndrome, Type 1 57
728 c NPH049 Nephrotic Syndrome, Type 2 53
729 c NPH102 Nephrotic Syndrome, Type 14 50
730 c FML015 Familial Nephrotic Syndrome 47
731 c NPH072 Nephrotic Syndrome, Type 7 44
732 c NPH054 Nephrotic Syndrome, Type 3 42
733 c NPH076 Nephrotic Syndrome, Type 10 42
734 LYM006 Lymphoepithelioma-Like Carcinoma 40
735 c NPH047 Nephrotic Syndrome, Type 4 39
736 c NPH117 Nephrotic Syndrome, Type 24 37
737 c NPH108 Nephrotic Syndrome, Type 20 37
738 c NPH074 Nephrotic Syndrome, Type 9 36
739 P MNS018 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 34
740 c NPH111 Nephrotic Syndrome, Type 21 31
741 c NPH115 Nephrotic Syndrome, Type 23 31
742 c NPH103 Nephrotic Syndrome, Type 15 27
743 c NPH114 Nephrotic Syndrome, Type 22 27
744 c NPH096 Nephrotic Syndrome, Type 12 26
745 c NPH073 Nephrotic Syndrome, Type 8 26
746 c NPH095 Nephrotic Syndrome, Type 11 26
747 c NPH105 Nephrotic Syndrome, Type 17 25
748 c NPH070 Nephrotic Syndrome, Type 6 24
749 SVR055 Severe Immune-Mediated Enteropathy 24
750 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 24
751 c NPH106 Nephrotic Syndrome, Type 18 24
752 c NPH093 Nephrotic Syndrome, Type 13 22
753 c NPH107 Nephrotic Syndrome, Type 19 22
754 c NPH104 Nephrotic Syndrome, Type 16 21
755 c PLM200 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6 20
756 c NPH119 Nephrotic Syndrome, Type 26 19
757 INF127 Infective Dermatitis Associated with Htlv-1 18
758 MYP151 Myopathy, Congenital, Bailey-Bloch 58
759 c ADL052 Adult Acute Lymphocytic Leukemia 45
760 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 28
761 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 25
762 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 22
763 c PRM151 Primary Bone Lymphoma 20
764 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
765 JSS002 Jessner Lymphocytic Infiltration of the Skin 16
766 PRG009 Progressive Multifocal Leukoencephalopathy 56
767 CHR635 Chromosome 5q Deletion Syndrome 50
768 CTS005 Catastrophic Antiphospholipid Syndrome 43
769 AMD002 Amed Syndrome, Digenic 40
770 NLL001 Null-Cell Leukemia 30
771 IMM236 Immune-Mediated Thrombotic Thrombocytopenic Purpura 29
772 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 29
773 c LKM051 Leukemia, Chronic Lymphocytic 3 11
774 c LKM050 Leukemia, Chronic Lymphocytic 1 10
775 KTZ001 Kotzot-Richter Syndrome 8
776 c BLY016 B-Lymphoblastic Leukemia/lymphoma with T(5;14)(q31.1;q32.3) 6
777 RFR016 Refractory T Lymphoblastic Leukemia/lymphoma 6
778 MYL083 Myeloid/lymphoid Neoplasm Associated with Jak2 Rearrangement 6
779 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 5
780 c LKM061 Leukemia, Acute Myeloid 82
781 c LKM063 Leukemia, Chronic Myeloid 73
782 P MST009 Mastocytosis 66
783 P MYL006 Myeloid Leukemia 59
784 P CND004 Candidiasis 58
785 LST001 Listeriosis 58
786 c SYS004 Systemic Mastocytosis 58
787 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 55
788 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 53
789 P CNG003 Congenital Dyserythropoietic Anemia 48
790 c ANM080 Anemia, Congenital Dyserythropoietic, Type Iiia 43
791 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 40
792 P LKM005 Leukemia, T-Cell, Chronic 34
793 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 28
794 KWR001 Kowarski Syndrome 28
795 c CND033 Candidiasis, Familial, 1 28
796 c BNM013 Bone Marrow Failure Syndrome 3 27
797 c CND025 Candidiasis, Familial, 8 27
798 IMM221 Immunodeficiency 74, Covid19-Related, X-Linked 25
799 c CND036 Candidiasis, Familial, 4 25
800 c ACT259 Acute Myeloid Leukemia with T(6;9) (p23;q34.1) 24
801 c CND031 Candidiasis, Familial, 9 24
802 IMM262 Immunodeficiency 93 and Hypertrophic Cardiomyopathy 23
803 c CND037 Candidiasis, Familial, 6 22
804 c SBC004 Subacute Myeloid Leukemia 21
805 GST113 Gastrointestinal Defects and Immunodeficiency Syndrome 2 20
806 LTT006 Littoral Cell Angioma of the Spleen 20
807 THY044 Thymic-Renal-Anal-Lung Dysplasia 19
808 c ACT269 Acute Myeloid Leukemia with T(8;21); (q22; Q22.1) 19
809 c FML334 Familial Candidiasis 17
810 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
811 c CND027 Candidiasis, Familial, 3 16
812 c ACT254 Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2) 12
813 c ACT272 Acute Myeloid Leukemia with T(1;22)(p13;q13) 7
814 c HMN023 Human T-Cell Leukemia Virus Type 3 5
815 P LYS001 Loeys-Dietz Syndrome 65
816 NTH001 Netherton Syndrome 62
817 c LYS019 Loeys-Dietz Syndrome 1 62
818 c LYS021 Loeys-Dietz Syndrome 3 59
819 c LYS018 Loeys-Dietz Syndrome 2 55
820 c LYS017 Loeys-Dietz Syndrome 4 53
821 c LYS020 Loeys-Dietz Syndrome 5 50
822 FLL013 Follicular Dendritic Cell Sarcoma 49
823 CRY003 Cryptosporidiosis 47
824 ACT217 Acute Myeloid Leukemia with Recurrent Genetic Anomaly 42
825 ISL015 Isolated Growth Hormone Deficiency, Type Ib 42
826 ANS003 Anisakiasis 39
827 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 33
828 BRS015 Breast Medullary Carcinoma 30
829 LGH004 Light Chain Deposition Disease 30
830 c THY107 Thymoma, Familial 30
831 c INV003 Invasive Malignant Thymoma 29
832 CLS052 Classic Hairy Cell Leukemia 28
833 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 26
834 c LYS031 Loeys-Dietz Syndrome 6 24
835 c TYP010 Type C Thymoma 23
836 c ATM064 Autoimmune Pancreatitis Type 1 22
837 IMM271 Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia 21
838 OSL001 Oslam Syndrome 20
839 c SCN043 Secondary Intestinal Lymphangiectasia 19
840 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 16
841 c THY085 Thymoma Type a 14
842 c THY087 Thymoma Type Ab 13
843 LYM100 Lymphoepithelial-Like Carcinoma 13
844 RPP004 Rippling Muscle Disease with Myasthenia Gravis 13
845 P ACT262 Acute Myeloid Leukemia with Inv(16)(p13.1q22) or T(16;16)(p13.1;q22) 12
846 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 11
847 LYM153 Lymphoplasmacytic Inflammatory Pseudotumor of the Liver 11
848 c THY086 Thymoma Type B 9
849 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 7
850 c ACT261 Acute Myeloid Leukemia with Inv(3) (q21.3;q26.2) or T(3;3) (q21.3;q26.2) 7
851 c MLG034 Malignant Type a Thymoma 6
852 c MLG040 Malignant Type Ab Thymoma 6
853 ACT273 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or 6
854 c HPT073 Hepatitis C Virus 70
855 P HPT021 Hepatitis 65
856 c HPT001 Hepatitis C 63
857 c HPT016 Hepatitis B 63
858 c HPT003 Hepatitis a 62
859 c HPT015 Hepatitis D 60
860 LGN006 Legionnaire Disease 59
861 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 59
862 ISL014 Isolated Growth Hormone Deficiency, Type Ia 58
863 MMB001 Membranoproliferative Glomerulonephritis 58
864 APH001 Aphthous Stomatitis 56
865 HST011 Histoplasmosis 54
866 AMY003 Amyotrophic Neuralgia 53
867 GNT003 Genital Herpes 53
868 P HYP076 Hyperthyroidism 53
869 c THR071 Thrombocytopenia 1 53
870 c VRL010 Viral Hepatitis 53
871 IRR003 Irritant Dermatitis 53
872 WST005 West Nile Virus 52
873 c HPT007 Hepatitis E 52
874 P MST002 Mast-Cell Leukemia 51
875 HPR003 Heparin-Induced Thrombocytopenia 49
876 HST016 Histiocytic Sarcoma 48
877 P TRN034 Transverse Myelitis 45
878 CYS011 Cystoisosporiasis 44
879 CHL061 Childhood Leukemia 43
880 HML058 Hemolytic Disease of Fetus and Newborn, Rh-Induced 43
881 MLT001 Multiple Chemical Sensitivity 39
882 c HMN021 Human T-Cell Leukemia Virus Type 1 38
883 c FNC046 Fanconi Anemia, Complementation Group P 38
884 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 34
885 ACT200 Acute Monoblastic Leukemia 34
886 PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 34
887 PRN039 Paraneoplastic Syndromes 33
888 c ACT159 Acute Transverse Myelitis 33
889 PLS002 Peliosis Hepatis 32
890 CRC001 Cercarial Dermatitis 32
891 GRN032 Granulomatous Slack Skin Disease 31
892 ACT176 Acute Panmyelosis with Myelofibrosis 31
893 OCC001 Occupational Dermatitis 30
894 P ATM020 Autoimmune Enteropathy 30
895 LYM015 Lymphocytic Gastritis 29
896 c BLY012 B-Lymphoblastic Leukemia/lymphoma with T(9;22)(q34.1;q11.2) 28
897 MRK002 Marek Disease 27
898 PLY113 Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag 26
899 PLM002 Pulmonary Plasma Cell Granuloma 26
900 SPC025 Specific Granule Deficiency 2 26
901 CMP041 Complement Factor D Deficiency 24
902 LCH010 Lichtenstein Syndrome 22
903 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
904 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 21
905 EPL163 Epilepsy with Bilateral Occipital Calcifications 20
906 c EPD087 Epidermodysplasia Verruciformis 5 19
907 DPD001 Deep Dermatophytosis 18
908 c HMN022 Human T-Cell Leukemia Virus Type 2 18
909 BNM005 Bone Marrow Necrosis 17
910 c ACT246 Acute Mast Cell Leukemia 16
911 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 15
912 BLY011 B-Lymphoblastic Leukemia/lymphoma with Recurrent Genetic Abnormality 13
913 c CHR698 Chronic Mast Cell Leukemia 13
914 CHN073 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 12
915 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 11
916 INF024 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 9
917 c RRH008 Rare Hyperthyroidism 8
918 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
919 IMM214 Immune Deficiency with Skin Involvement 6
920 c GRW044 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 5
921 c GRW043 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 5
922 RRG005 Rare Genetic Immune Disease 5
923 DRC003 Drachtman Weinblatt Sitarz Syndrome 5
924 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
925 c RRL006 Rare Lymphatic System Anomaly 4
926 LYM013 Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma 4
927 MYL082 Myeloid/lymphoid Neoplasms Associated with Eosinophilia and Abnormality of Pdgfra, Pdgfrb, Fgfr1 or Jak2 4
928 P MLT020 Multiple Sclerosis 81
929 c DLT002 Dilated Cardiomyopathy 79
930 c PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 77
931 c THR092 Thrombophilia Due to Thrombin Defect 76
932 ULC004 Ulcerative Colitis 75
933 P APL001 Aplastic Anemia 74
934 AGM019 Agammaglobulinemia, X-Linked 73
935 P SYS005 Systemic Scleroderma 73
936 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
937 P HML033 Hemolytic Uremic Syndrome, Atypical 1 70
938 c GCH015 Gaucher Disease, Type I 70
939 P BRL012 Bare Lymphocyte Syndrome, Type Ii 69
940 CMM004 Common Variable Immunodeficiency 69
941 P GCH001 Gaucher's Disease 68
942 P CLC063 Celiac Disease 1 67
943 SVR066 Severe Combined Immunodeficiency, X-Linked 66
944 P CNJ013 Conjunctivitis 66
945 P PSR002 Psoriasis 65
946 LPD008 Lipid Metabolism Disorder 65
947 P MYC008 Myocarditis 62
948 c SCL052 Scleroderma, Familial Progressive 62
949 c LCL006 Localized Scleroderma 61
950 ALL029 Allergic Disease 61
951 P VSC011 Vasculitis 60
952 c HRD202 Hereditary Lymphedema I 60
953 P ENC004 Encephalitis 59
954 P TRC086 Trichohepatoenteric Syndrome 1 59
955 CST005 Castleman Disease 59
956 c THR082 Thrombophilia Due to Activated Protein C Resistance 59
957 c PSR017 Psoriasis 2 58
958 c SVR003 Severe Congenital Neutropenia 58
959 c GCH017 Gaucher Disease, Type Iii 58
960 P NRP001 Neuropathy 58
961 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 58
962 P ADM011 Adams-Oliver Syndrome 57
963 LNG108 Langerhans Cell Histiocytosis 57
964 ESN005 Eosinophilic Gastroenteritis 57
965 P SCK005 Sickle Cell Disease 57
966 P UVT001 Uveitis 57
967 FLR002 Filariasis 57
968 RLP002 Relapsing-Remitting Multiple Sclerosis 56
969 P VSC013 Visceral Heterotaxy 56
970 TLR001 Tularemia 56
971 c ANT034 Anterior Uveitis 56
972 c PSR023 Psoriasis 1 55
973 c CRD093 Cardiomyopathy, Dilated, 1a 55
974 c INT064 Intermediate Uveitis 55
975 IMM102 Immunodeficiency 14 55
976 c CRD099 Cardiomyopathy, Dilated, 1e 54
977 MRG003 Marginal Zone B-Cell Lymphoma 54
978 c VRL007 Viral Encephalitis 53
979 VSC003 Visceral Leishmaniasis 53
980 THY022 Thymic Carcinoma 53
981 CLL003 Cellulitis 53
982 c CRD080 Cardiomyopathy, Dilated, 1g 52
983 c GCH016 Gaucher Disease, Type Ii 52
984 P THR015 Thrombophilia 52
985 c CHR037 Chronic Eosinophilic Pneumonia 52
986 c CRD187 Cardiomyopathy, Dilated, 3b 51
987 P ESN008 Eosinophilic Pneumonia 51
988 c PST005 Posterior Uveitis 51
989 CCC002 Coccidiosis 50
990 P HRD012 Hereditary Elliptocytosis 49
991 P LYM024 Lymphatic System Disease 49
992 PLR001 Pleural Tuberculosis 49
993 IMM136 Immune System Disease 49
994 c PSR028 Psoriasis 7 48
995 NTR036 Neutropenia, Severe Congenital, X-Linked 48
996 GDS001 Good Syndrome 48
997 CRY004 Cryoglobulinemia 48
998 c TCL005 T-Cell Prolymphocytic Leukemia 48
999 c PRM108 Primary Progressive Multiple Sclerosis 48
1000 TRN022 Transcobalamin Ii Deficiency 48
1001 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 47
1002 GRV014 Graves Ophthalmopathy 47
1003 c CRD233 Cardiomyopathy, Dilated, 1b 47
1004 c FNC030 Fanconi Anemia, Complementation Group G 47
1005 P ATM019 Autoimmune Polyendocrine Syndrome 47
1006 c GCH013 Gaucher Disease, Type Iiic 46
1007 PNT038 Peanut Allergy 46
1008 c CRD097 Cardiomyopathy, Dilated, 1d 46
1009 TCL003 T Cell Deficiency 46
1010 c ACT076 Acute Myocarditis 46
1011 MLL002 Miller Fisher Syndrome 45
1012 c CRD105 Cardiomyopathy, Dilated, 1o 45
1013 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 45
1014 c JVN003 Juvenile Xanthogranuloma 45
1015 CMP064 Complement Component 3 Deficiency 44
1016 SPL012 Splenic Disease 44
1017 FSR001 Fusariosis 44
1018 P IGN003 Iga Nephropathy 1 44
1019 c FNC047 Fanconi Anemia, Complementation Group Q 44
1020 PLL012 Pollen Allergy 44
1021 IMM176 Immunodeficiency with Hyper-Igm, Type 5 44
1022 c ATM099 Autoimmune Uveitis 44
1023 IMM034 Immunodeficiency, Common Variable, 2 44
1024 IMM193 Immunodeficiency 58 43
1025 IMM223 Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis 43
1026 P END084 Endocrine System Disease 43
1027 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 43
1028 MTR088 Mature T-Cell and Nk-Cell Lymphoma 43
1029 QLT001 Qualitative Platelet Defect 43
1030 CMP007 Complement Component 5 Deficiency 43
1031 IMM082 Immunodeficiency 18 43
1032 LYM116 Lymph Node Disease 43
1033 c CRD091 Cardiomyopathy, Dilated, 1dd 43
1034 P PRM293 Primary Mediastinal B-Cell Lymphoma 43
1035 MYL013 Myeloperoxidase Deficiency 42
1036 c BCT006 Bacterial Conjunctivitis 42
1037 c PRM038 Primary Agammaglobulinemia 42
1038 DRG024 Drug Allergy 42
1039 BRY001 Berylliosis 42
1040 c CRD155 Cardiomyopathy, Dilated, 1kk 42
1041 MTL005 Metal Allergy 42
1042 c TRC078 Trichohepatoenteric Syndrome 2 42
1043 HRT040 Hirata Disease 42
1044 EGG001 Egg Allergy 42
1045 PNC085 Penicillin Allergy 42
1046 c ATM022 Autoimmune Myocarditis 42
1047 c ADM005 Adams-Oliver Syndrome 1 42
1048 c CRD069 Cardiomyopathy, Dilated, 1h 41
1049 PDC001 Podoconiosis 41
1050 c CHR086 Chronic Conjunctivitis 41
1051 BBN001 Bubonic Plague 41
1052 FRM003 Farmer's Lung 41
1053 IMM085 Immunodeficiency 25 41
1054 c HYP072 Hypersensitivity Reaction Type Iii Disease 41
1055 PMP002 Pemphigoid Gestationis 40
1056 IMM003 Immunoglobulin Alpha Deficiency 40
1057 EXT010 Extramedullary Plasmacytoma 40
1058 BLC015 Balo Concentric Sclerosis 40
1059 c CRD090 Cardiomyopathy, Dilated, 1l 40
1060 c CRD063 Cardiomyopathy, Dilated, 2a 39
1061 CMP089 Complement Component 6 Deficiency 39
1062 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 39
1063 c HTR021 Heterotaxy, Visceral, 5, Autosomal 39
1064 IMM141 Immunodeficiency 49 39
1065 NNL001 Non-Langerhans-Cell Histiocytosis 39
1066 IMM038 Immunodeficiency, Common Variable, 1 38
1067 c CRD114 Cardiomyopathy, Dilated, 1m 38
1068 PRS123 Persistent Generalized Lymphadenopathy 38
1069 CRV030 Cervical Adenitis 38
1070 c HRD007 Hereditary Lymphedema 38
1071 DFF003 Diffuse Scleroderma 37
1072 CMP087 Complement Component 7 Deficiency 37
1073 c ACT067 Acute Conjunctivitis 37
1074 c HRD088 Hereditary Neuropathies 37
1075 CWM001 Cow Milk Allergy 37
1076 IMM143 Immunodeficiency 48 37
1077 BRD003 Bird Fancier's Lung 37
1078 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 36
1079 c ELL005 Elliptocytosis 2 36
1080 c CRD101 Cardiomyopathy, Dilated, 1x 36
1081 c CRD064 Cardiomyopathy, Dilated, 1ff 36
1082 NTL004 Nut Allergy 36
1083 c ELL010 Elliptocytosis 1 36
1084 P FML333 Familial Behcet-Like Autoinflammatory Syndrome 36
1085 CHL170 Childhood Lymphoma 36
1086 c CRD082 Cardiomyopathy, Dilated, 1gg 35
1087 IMM149 Immunodeficiency 43 35
1088 MSN002 Mesenteric Lymphadenitis 35
1089 IMM152 Immunodeficiency 45 35
1090 c ADL001 Adult Lymphoma 35
1091 TXC003 Toxicodendron Dermatitis 35
1092 ASC009 Ascites, Chylous 35
1093 c ATM104 Autoimmune Vasculitis 35
1094 LTT002 Letterer-Siwe Disease 34
1095 c CRD104 Cardiomyopathy, Dilated, 1p 34
1096 SPL008 Splenic Tuberculosis 34
1097 c ADL027 Adult Dermatomyositis 34
1098 c ADM007 Adams-Oliver Syndrome 2 34
1099 FRT005 Fruit Allergy 34
1100 DYS016 Dysgammaglobulinemia 34
1101 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 33
1102 FNC063 Functional Neutrophil Defect 33
1103 c INF019 Infectious Anterior Uveitis 33
1104 c CRD159 Cardiomyopathy, Dilated, 1hh 33
1105 c ADM010 Adams-Oliver Syndrome 5 33
1106 c ELL006 Elliptocytosis 3 33
1107 c DRM057 Dermatitis, Atopic, 5 33
1108 c CRD102 Cardiomyopathy, Dilated, 1j 33
1109 DFF041 Diffuse Large B-Cell Lymphoma Activated B-Cell Type 33
1110 WHT017 Wheat Allergy 33
1111 c CRD107 Cardiomyopathy, Dilated, 1r 33
1112 c TYP027 Type 1 Diabetes Mellitus 10 32
1113 SPP001 Suppurative Lymphadenitis 32
1114 ANG003 Angelucci's Syndrome 32
1115 IMM183 Immunodeficiency 32a 32
1116 P CRD245 Cardiac-Urogenital Syndrome 32
1117 c TYP055 Type 1 Diabetes Mellitus 22 32
1118 c HTR010 Heterotaxy, Visceral, 4, Autosomal 32
1119 c CRD096 Cardiomyopathy, Dilated, 1ee 32
1120 LYM005 Lymphocele 32
1121 RTC001 Reticulohistiocytic Granuloma 32
1122 LTX001 Latex Allergy 31
1123 c INF186 Infectious Encephalitis 31
1124 c TYP038 Type 1 Diabetes Mellitus 15 31
1125 IMM196 Immunodeficiency 15a 31
1126 c ATM075 Autoimmune Encephalitis 31
1127 IMM123 Immunodeficiency 39 31
1128 GNR050 Generalized Lymphatic Anomaly 31
1129 TNS013 Tonsil Squamous Cell Carcinoma 31
1130 c TRN009 Transient Hypogammaglobulinemia of Infancy 31
1131 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 31
1132 RFR002 Refractory Hairy Cell Leukemia 30
1133 PLM049 Plummer Vinson Syndrome 30
1134 CMP060 Complement Component 9 Deficiency 30
1135 CTR186 Co-Trimoxazole Allergy 30
1136 c ANK021 Ankylosing Spondylitis 1 30
1137 ECT003 Ectopic Thymus 30
1138 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 30
1139 BTL002 Beta-Lactam Allergy 29
1140 IMM075 Immunodeficiency 22 29
1141 LGM010 Legume Allergy 29
1142 MYL057 Myelopathy, Htlv-1-Associated 29
1143 c ATM089 Autoimmune Neuropathy 29
1144 c ATM102 Autoimmune Cardiomyopathy 29
1145 IMM241 Immunodeficiency, Common Variable, 12, with Autoimmunity 28
1146 CYC002 Cyclosporiasis 28
1147 c TYP053 Type 1 Diabetes Mellitus 20 28
1148 SLC004 Selective Igg Deficiency Disease 28
1149 ATM015 Autoimmune Disease of Gastrointestinal Tract 28
1150 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
1151 THN013 Thunderstorm Triggered Asthma 28
1152 AML051 Aml with Myelodysplasia-Related Features 28
1153 TNG001 Tungiasis 28
1154 P PRT259 Proteasome-Associated Autoinflammatory Syndrome 28
1155 EPT007 Epithelial Malignant Thymoma 28
1156 P NNT006 Neonatal Myasthenia Gravis 28
1157 HMN003 Hemangioma of Spleen 28
1158 ATM005 Autoimmune Disease of Musculoskeletal System 28
1159 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
1160 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
1161 c PSR033 Psoriasis 12 27
1162 ASP036 Aspirin Allergy 27
1163 LBM007 Libman-Sacks Endocarditis 27
1164 OVR021 Ovarian Lymphoma 27
1165 c ADM009 Adams-Oliver Syndrome 4 27
1166 CMP094 Complement Component 4b Deficiency 27
1167 BGS001 Bagassosis 27
1168 CMP095 Complement Component 4a Deficiency 27
1169 c HML034 Hemolytic Uremic Syndrome, Atypical 3 27
1170 FBR085 Fibrillary Glomerulonephritis 27
1171 c HML037 Hemolytic Uremic Syndrome, Atypical 5 26
1172 c CRD162 Cardiomyopathy, Dilated, 1ii 26
1173 CHL145 Chlorhexidine Allergy 26
1174 c HTR020 Heterotaxy, Visceral, 8, Autosomal 26
1175 c THR023 Thrombophilia Due to Thrombomodulin Defect 26
1176 c HTR023 Heterotaxy, Visceral, 6, Autosomal 26
1177 c HML032 Hemolytic Uremic Syndrome, Atypical 4 26
1178 c ADM012 Adams-Oliver Syndrome 6 26
1179 c CRD111 Cardiomyopathy, Dilated, 1i 26
1180 IMM030 Immunodeficiency, Common Variable, 3 26
1181 c HRM020 Hermansky-Pudlak Syndrome 10 26
1182 c CRD108 Cardiomyopathy, Dilated, 1bb 26
1183 c CRD115 Cardiomyopathy, Dilated, 1cc 25
1184 P BRY005 Beryllium Disease 25
1185 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
1186 c CRD149 Cardiomyopathy, Dilated, 1jj 25
1187 IMM035 Immunodeficiency, Common Variable, 4 25
1188 FSH003 Fish Allergy 25
1189 c TYP057 Type 1 Diabetes Mellitus 24 25
1190 THY007 Thymus Lipoma 25
1191 IMM058 Immunodeficiency, Common Variable, 7 25
1192 c CRD060 Cardiomyopathy, Dilated, 1z 25
1193 ALL007 Allergic Urticaria 25
1194 URT017 Ureteral Lymphoma 25
1195 CFT005 Ceftazidime Allergy 25
1196 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 25
1197 c CRD113 Cardiomyopathy, Dilated, 1v 25
1198 CMP092 Complement Component 8 Deficiency, Type Ii 25
1199 GTM001 Goat Milk Allergy 25
1200 c HML036 Hemolytic Uremic Syndrome, Atypical 6 25
1201 c CRD092 Cardiomyopathy, Dilated, 1w 25
1202 ATM012 Autoimmune Disease of Blood 25
1203 PHN016 Phenytoin Allergy 24
1204 c CRD112 Cardiomyopathy, Dilated, 1u 24
1205 SPN048 Spindle Cell Thymoma 24
1206 SYS080 Systemic Epstein-Barr Virus Positive T-Cell Lymphoma of Childhood 24
1207 c PSR034 Psoriasis 15 24
1208 c ATN028 Autoinflammatory Syndrome, Familial, Behcet-Like 1 24
1209 c ADM008 Adams-Oliver Syndrome 3 24
1210 AMX001 Amoxicillin Allergy 24
1211 c HRD204 Hereditary Lymphedema Ia 24
1212 HDG004 Hodgkin's Granuloma 24
1213 MPL002 Maple Bark Strippers' Lung 24
1214 c CRD153 Cardiomyopathy, Dilated, 2b 24
1215 c DRM060 Dermatitis, Atopic, 8 24
1216 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 23
1217 c IGN004 Iga Nephropathy 3 23
1218 GLL013 Gallbladder Lymphoma 23
1219 c ATM014 Autoimmune Disease of Endocrine System 23
1220 CHR068 Chronic Nk-Cell Lymphocytosis 23
1221 c PSR024 Psoriasis 3 23
1222 CRT005 Cortical Thymoma 23
1223 ALG025 Alg1-Congenital Disorder of Glycosylation 23
1224 AXL002 Axillary Adenitis 23
1225 c JVN046 Juvenile Polymyositis 23
1226 MCD005 Mcd Diffuse Large B-Cell Lymphoma 23
1227 c HRD100 Hereditary Lymphedema Ic 23
1228 c CRD173 Cardiomyopathy, Dilated, 1nn 23
1229 RTR005 Retroperitoneal Lymphoma 23
1230 CFC003 Cefaclor Allergy 23
1231 CMP093 Complement Component 8 Deficiency, Type I 23
1232 c AGM027 Agammaglobulinemia 8a, Autosomal Dominant 23
1233 c ANK023 Ankylosing Spondylitis 3 23
1234 ATM078 Autoimmune Addison Disease 23
1235 IMM037 Immunodeficiency, Common Variable, 6 22
1236 STR014 Sternum Lymphoma 22
1237 c HTR029 Heterotaxy, Visceral, 12, Autosomal 22
1238 SLC007 Selective Immunoglobulin Deficiency Disease 22
1239 IMM230 Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia 22
1240 DCL001 Diclofenac Allergy 22
1241 c DLT017 Dilated Cardiomyopathy 1t 22
1242 c CRD250 Cardiomyopathy, Dilated, 2d 22
1243 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 22
1244 c CRD244 Cardiomyopathy, Dilated, 2c 22
1245 c PSR027 Psoriasis 6 22
1246 IMM189 Immunodeficiency, Common Variable, 14 22
1247 c CRD261 Cardiomyopathy, Dilated, 2g 22
1248 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
1249 c MXD057 Mixed Phenotype Acute Leukemia, B/myeloid 22
1250 OXR001 Oxirane Allergy 21
1251 MDS006 Mediastinal Gray Zone Lymphoma 21
1252 ZNC004 Zinc Deficiency, Transient Neonatal 21
1253 APP016 Apple Allergy 21
1254 TRC018 Tracheal Lymphoma 21
1255 TCL029 T Cell and Nk Cell Immunodeficiency 21
1256 TRM026 Trimethoprim Allergy 21
1257 c CLC048 Celiac Disease 3 21
1258 BNZ003 Benzylpenicillin Allergy 21
1259 CFR002 Cefuroxime Allergy 21
1260 c PSR031 Psoriasis 10 21
1261 EZB001 Ezb Diffuse Large B-Cell Lymphoma 21
1262 c CRD255 Cardiomyopathy, Dilated, 2e 21
1263 c TRN062 Transient Neonatal Myasthenia Gravis 21
1264 c PSR029 Psoriasis 9 20
1265 SHR118 Shrimp Allergy 20
1266 SLF017 Sulfamethoxazole Allergy 20
1267 AZT006 Aztreonam Allergy 20
1268 ABC021 Abacavir Allergy 20
1269 MLG020 Malignant Histiocytic Disease 20
1270 ESP015 Esophagus Lymphoma 20
1271 c CLC046 Celiac Disease 5 20
1272 IMM151 Immunodeficiency 53 20
1273 c CRD260 Cardiomyopathy, Dilated, 2f 20
1274 PCH016 Peach Allergy 20
1275 c INF152 Infectious Posterior Uveitis 19
1276 SLF016 Sulfonamide Allergy 19
1277 CPH004 Cephalosporin Allergy 19
1278 CFT003 Ceftriaxone Allergy 19
1279 c INF055 Infectious Myocarditis 19
1280 PST109 Postinfectious Encephalitis 19
1281 c IGN002 Iga Nephropathy 2 19
1282 c CNG619 Congenital Aplastic Anemia 19
1283 PMP013 Pemphigus Gestationis 19
1284 SRS015 Serous Carcinoma of the Corpus Uteri 18
1285 CRB200 Carbapenem Allergy 18
1286 c CLC037 Celiac Disease 4 18
1287 JNS001 Janus Kinase-3 Deficiency 18
1288 MLP008 Melphalan Allergy 18
1289 CRB199 Carbamazepine Allergy 18
1290 THY006 Thymus Lymphoma 18
1291 c BLR016 Biliary Cirrhosis, Primary, 2 18
1292 c CLC040 Celiac Disease 6 18
1293 c TYP040 Type 1 Diabetes Mellitus 18 17
1294 c CHR692 Chronic Encephalitis 17
1295 SBM002 Submandibular Adenitis 17
1296 c PRT254 Proteasome-Associated Autoinflammatory Syndrome 5 17
1297 THP007 Thiopental Allergy 17
1298 SNL011 Snail Allergy 17
1299 LDC001 Lidocaine Allergy 17
1300 P RRC004 Rare Cardiomyopathy 16
1301 TMT007 Tomato Allergy 16
1302 c CLC039 Celiac Disease 13 16
1303 ORN009 Orange Allergy 16
1304 MLN063 Melon Allergy 16
1305 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
1306 c CLC045 Celiac Disease 2 16
1307 c SCN082 Secondary Vasculitis 16
1308 CRB201 Crab Allergy 16
1309 SLC002 Selective Ige Deficiency Disease 16
1310 CRS013 Crustacean Allergy 15
1311 CLR146 Celery Allergy 15
1312 CMB001 Combined Thymoma 15
1313 CCM002 Cecum Lymphoma 15
1314 c SCK049 Sickle Cell Disease and Related Diseases 15
1315 RCR031 Rocuronium Allergy 15
1316 c CLC038 Celiac Disease 10 15
1317 c CRD070 Cardiomyopathy, Dilated, 1k 14
1318 TMT006 Timothy Grass Allergy 14
1319 c BLR026 Biliary Cirrhosis, Primary, 5 14
1320 RHM002 Rheumatic Pulmonary Valve Disease 14
1321 c CLC047 Celiac Disease 8 14
1322 c CLC043 Celiac Disease 11 14
1323 c CLC044 Celiac Disease 12 14
1324 c ST2001 St2 Diffuse Large B-Cell Lymphoma 14
1325 c CLC042 Celiac Disease 9 14
1326 VGT003 Vegetable Allergy 14
1327 CYS023 Cystic Medial Necrosis of Aorta 14
1328 c CRD071 Cardiomyopathy, Dilated, 1q 14
1329 CRT086 Corticosteroid Allergy 14
1330 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
1331 ZBR002 Zebrafish Allergy 13
1332 c CLC041 Celiac Disease 7 13
1333 c LMN001 Lmna-Related Dilated Cardiomyopathy 13
1334 c BLR025 Biliary Cirrhosis, Primary, 4 13
1335 CHC003 Chicken Egg Allergy 12
1336 P IDP090 Idiopathic Eosinophilic Pneumonia 12
1337 HPT083 Hepatitis B Vaccine, Response to 11
1338 APR007 Apricot Allergy 11
1339 c ANK022 Ankylosing Spondylitis 2 10
1340 c N1D001 N1 Diffuse Large B-Cell Lymphoma 10
1341 c MYR006 Myrf-Related Cardiac Urogenital Syndrome 10
1342 CHR570 Cherry Allergy 10
1343 PHN015 Phenobarbital Allergy 9
1344 SCC012 Succinylcholine Allergy 9
1345 c PSD023 Pseudo-Gaucher Disease 9
1346 c AGM032 Agammaglobulinemia 10 9
1347 SLF018 Sulfasalazine Allergy 8
1348 c THR126 Thrombophilia Due to Decreased Release of Plat 8
1349 c RRH022 Rare Hereditary Thrombophilia 7
1350 QND001 Quinidine Allergy 7
1351 SLT002 Solitary Plasmacytoma of Chest Wall 7
1352 ISN002 Isoniazide Allergy 7
1353 EZB002 Ezb-Myc+ Diffuse Large B-Cell Lymphoma 7
1354 CHS004 Chest Wall Parachordoma 6
1355 c AGM030 Agammaglobulinemia 8a 6
1356 SLC001 Selective Igd Deficiency Disease 6
1357 c PLG011 Plg-Related Hereditary Angioedema with Normal C1inh 6
1358 LYM016 Lymph Node Palisaded Myofibroblastoma 6
1359 IMM004 Immunoglobulin Beta Deficiency 6
1360 ACT002 Acute Allergic Serous Otitis Media 5
1361 ISC018 Isocyanates Allergic Asthma 5
1362 ACT063 Acute Allergic Mucoid Otitis Media 5
1363 CFX001 Cefixime Allergy 5
1364 ACT025 Acute Allergic Sanguinous Otitis Media 5
1365 TBC005 Tubocurarine Allergy 5
1366 AMD001 Amodiaquine Allergy 5
1367 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 5
1368 c RRC026 Rare Conjunctivitis 5
1369 MPV003 Mepivacaine Allergy 5
1370 HSL001 House Allergic Alveolitis 5
1371 c CRD027 Cardiomyopathy Due to Anthracyclines 5
1372 c SYS074 Systemic Diseases with Anterior Uveitis 5
1373 PHT015 Phthalyl Group Allergy 5
1374 CYC011 Cyclophosphamide Allergy 5
1375 DMN046 D-Mannitol Allergy 5
1376 RNT001 Ranitidine Allergy 5
1377 SDM006 Sodium Aurothiomalate Allergy 5
1378 c RRC002 Rare Acquired Aplastic Anemia 5
1379 PLM144 Plum Allergy 4
1380 c SYS076 Systemic Diseases with Posterior Uveitis 4
1381 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
1382 PPR002 Piperacillin Allergy 4
1383 NRL041 Neurological Sequelae of Lupus 4
1384 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
1385 CBL010 Cobalt Allergic Asthma 4
1386 CFT004 Cefotaxime Allergy 4
1387 MTH085 Methyl Isocyanate Allergic Asthma 4
1388 PST006 Postauricular Lymphadenitis 4
1389 MRP005 Meropenem Allergy 4
1390 TRM027 Trimellitic Anhydride Allergic Asthma 4
1391 MLC007 Maleic Anhydride Allergic Asthma 4
1392 GLL044 Gallamine Allergy 4
1393 ATL014 Atlantic Salmon Allergy 4
1394 BRW010 Brown Shrimp Allergy 4
1395 RNB001 Rainbow Trout Allergy 4
1396 PTN015 Patent Blue V Allergy 4
1397 IND010 Indian Plum Allergy 4
1398 DSD001 Disodium Cromoglycate Allergy 4
1399 WHT016 White Shrimp Allergy 4
1400 HRN023 Horned Turban Snail Allergy 4
1401 IND011 Indian Prawn Allergy 4
1402 SPR138 Suprofen Allergy 4
1403 TGR001 Tiger Prawn Allergy 4
1404 DLL002 Dill Allergy 4
1405 ATL013 Atlantic Cod Allergy 4
1406 CRP027 Carp Allergy 4
1407 PHT014 Phthalic Anhydride Allergic Asthma 3
1408 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
1409 PRS146 Parsley Allergy 3
1410 NRL011 Neurological Consequences of Cytomegalovirus Infection 3
1411 CFT006 Cefotiam Allergy 3
1412 ALC034 Alcuronium Bromide Allergy 3
1413 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 26
1414 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 51
1415 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 33
1416 HMT002 Hematologic Cancer 64
1417 P THP004 Thiopurines, Poor Metabolism of, 1 45
1418 HYP249 Hyperthyroidism, Nonautoimmune 34
1419 c THP005 Thiopurines, Poor Metabolism of, 2 23
1420 P LKM002 Leukemia 65
1421 P ANT006 Antiphospholipid Syndrome 55
1422 c CHR418 Chronic Leukemia 48
1423 NCH001 Nuchal Bleb, Familial 31
1424 c SBC006 Subacute Leukemia 26
1425 c ANT041 Antiphospholipid Syndrome, Familial 21
1426 MYL031 Myeloproliferative Neoplasm 65
1427 CHC001 Chickenpox 60
1428 GRY002 Gray Platelet Syndrome 57
1429 IRN008 Iron Overload in Africa 54
1430 c FNC024 Fanconi Anemia, Complementation Group D1 54
1431 ONC002 Onchocerciasis 50
1432 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 47
1433 CNT060 Central Serous Chorioretinopathy 44
1434 FBR002 Fibrosarcoma of Bone 43
1435 ADS004 Aids Dementia Complex 41
1436 SKN001 Skin Angiosarcoma 32
1437 CD8002 Cd8 Deficiency, Familial 31
1438 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 17
1439 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
1440 PNC125 Pancreatic Lymphoma, Familial 5
1441 c TYP009 Type 2 Diabetes Mellitus 91
1442 P RHM011 Rheumatoid Arthritis 80
1443 c TYP008 Type 1 Diabetes Mellitus 79
1444 DFC004 Deficiency Anemia 74
1445 LYM133 Lymphoma, Hodgkin, Classic 71
1446 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 67
1447 P NRV007 Nervous System Disease 67
1448 P CHR012 Chronic Granulomatous Disease 67
1449 P DBT009 Diabetes Mellitus 67
1450 ALL003 Allergic Rhinitis 66
1451 P AGM001 Agammaglobulinemia 65
1452 TKY002 Takayasu Arteritis 64
1453 P PRP019 Peripheral Nervous System Disease 63
1454 FCT002 Factor Xi Deficiency 63
1455 P OST001 Osteopetrosis 63
1456 ATM095 Autoimmune Disease 62
1457 P THL005 Thalassemia 62
1458 P BLD124 Bleeding Disorder, Platelet-Type, 11 61
1459 P GLL022 Guillain-Barre Syndrome 61
1460 WLD007 Waldenstroem's Macroglobulinemia 61
1461 ADN001 Adenosine Deaminase Deficiency 61
1462 P LPS004 Lupus Erythematosus 61
1463 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60
1464 c GRV008 Graves Disease 1 60
1465 P SYP003 Syphilis 60
1466 IRN001 Iron Deficiency Anemia 59
1467 GRN051 Granulomatous Disease, Chronic, X-Linked 59
1468 THR100 Thrombocytopenic Purpura, Autoimmune 59
1469 P CRD246 Cardiovascular System Disease 59
1470 P HMP002 Hemophagocytic Lymphohistiocytosis 59
1471 DGR001 Digeorge Syndrome 59
1472 c ACT073 Acute Leukemia 58
1473 P PLY041 Polymyositis 58
1474 c OST131 Osteopetrosis, Autosomal Dominant 2 58
1475 c FNC042 Fanconi Anemia, Complementation Group D2 58
1476 CMB007 Combined Immunodeficiency 58
1477 P END033 Endocarditis 57
1478 EXT034 Extrinsic Allergic Alveolitis 57
1479 MXD005 Mixed Connective Tissue Disease 57
1480 P URT039 Urticaria 57
1481 P CHL066 Cholangitis 56
1482 P GST044 Gastritis 56
1483 c OST163 Osteopetrosis, Autosomal Recessive 3 56
1484 VGT001 Vogt-Koyanagi-Harada Disease 55
1485 GDP001 Goodpasture Syndrome 55
1486 P PMP001 Pemphigus 55
1487 PMP004 Pemphigus Foliaceus 55
1488 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 54
1489 P ANP001 Anaplastic Large Cell Lymphoma 54
1490 P GRV001 Graves' Disease 54
1491 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 54
1492 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 54
1493 PLM012 Pulmonary Sarcoidosis 54
1494 P HMR003 Hemorrhagic Disease 53
1495 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 53
1496 c FNC025 Fanconi Anemia, Complementation Group J 53
1497 P MNC007 Monocytic Leukemia 53
1498 TCL025 T-Cell Immunodeficiency with Thymic Aplasia 52
1499 VLC001 Velocardiofacial Syndrome 52
1500 IMM065 Immunodeficiency 10 52
1501 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 52
1502 c DRM054 Dermatitis, Atopic, 2 51
1503 HYP063 Hypersplenism 51
1504 PRP036 Peripheral T-Cell Lymphoma 51
1505 c OST126 Osteopetrosis, Autosomal Recessive 1 50
1506 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 50
1507 c FNC028 Fanconi Anemia, Complementation Group L 50
1508 PMP014 Pemphigoid 50
1509 c CNT035 Central Nervous System Disease 49
1510 EVN001 Evans' Syndrome 49
1511 HMG002 Hemoglobinuria 49
1512 ANG046 Angioimmunoblastic T-Cell Lymphoma 49
1513 P CNT005 Central Nervous System Lymphoma 49
1514 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 48
1515 c CNG027 Congenital Hemolytic Anemia 48
1516 SPL004 Splenic Marginal Zone Lymphoma 48
1517 IMM074 Immunodeficiency 16 48
1518 MLT113 Multicentric Castleman Disease 48
1519 c OST129 Osteopetrosis, Autosomal Recessive 2 48
1520 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 48
1521 c TYP031 Type 1 Diabetes Mellitus 5 48
1522 ATN021 Autoinflammatory Syndrome 47
1523 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 47
1524 IMM154 Immunoglobulin a Deficiency 1 47
1525 IMM062 Immunodeficiency 11 47
1526 ESP018 Esophageal Candidiasis 47
1527 c OST120 Osteopetrosis, Autosomal Recessive 5 47
1528 EXT033 Extrapulmonary Tuberculosis 46
1529 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 46
1530 c GLL037 Guillain-Barre Syndrome, Familial 46
1531 VRN004 Vernal Keratoconjunctivitis 46
1532 CHR726 Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 46
1533 HNN001 Hennekam Syndrome 46
1534 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 46
1535 CRP002 Croup 46
1536 MLK006 Milk Allergy 45
1537 c OST136 Osteopetrosis, Autosomal Recessive 7 45
1538 RCH001 Richter's Syndrome 45
1539 P SBR004 Seborrheic Dermatitis 45
1540 SKN006 Skin Sarcoidosis 44
1541 c OST125 Osteopetrosis, Autosomal Dominant 1 44
1542 TNM001 Tinea Imbricata 44
1543 IMM180 Immunodeficiency 28 44
1544 c OST134 Osteopetrosis, Autosomal Recessive 6 44
1545 c CHR708 Chronic Urticaria 44
1546 RSP021 Respiratory Allergy 44
1547 c SYS043 Systemic Lupus Erythematosus 1 44
1548 SCR015 Scarlet Fever 43
1549 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 43
1550 P HYP073 Hypersensitivity Reaction Type Iv Disease 42
1551 PRN049 Paraneoplastic Pemphigus 42
1552 GRN017 Granulocytopenia 42
1553 c CNG033 Congenital Syphilis 42
1554 c LYM161 Lymphatic Malformation 12 42
1555 c BLD120 Bleeding Disorder, Platelet-Type, 8 42
1556 LYM014 Lymphangitis 42
1557 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 41
1558 P LMB024 Limbic Encephalitis 41
1559 LYM010 Lymph Node Tuberculosis 41
1560 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 41
1561 IMM142 Immunodeficiency 50 41
1562 c BLD126 Bleeding Disorder, Platelet-Type, 18 41
1563 c OST137 Osteopetrosis, Autosomal Recessive 4 41
1564 IMM088 Immunodeficiency 36 41
1565 ART006 Arthus Reaction 39
1566 c ATM101 Autoimmune Gastritis 39
1567 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 39
1568 c SYS061 Systemic Lupus Erythematosus 16 39
1569 SPL006 Splenic Infarction 39
1570 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 38
1571 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38
1572 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 38
1573 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
1574 c ACT036 Acute Cholangitis 37
1575 c FML124 Familial Hemophagocytic Lymphohistiocytosis 5 37
1576 IMM076 Immunodeficiency 24 37
1577 c BLD152 Bleeding Disorder, Platelet-Type, 16 37
1578 THY009 Thyroid Lymphoma 37
1579 c BLD157 Bleeding Disorder, Platelet-Type, 9 37
1580 c SCN006 Secondary Syphilis 37
1581 IMM148 Immunodeficiency 44 37
1582 GRY001 Gray Zone Lymphoma 36
1583 ANC002 Anca-Associated Vasculitis 36
1584 P CHL156 Childhood T-Cell Acute Lymphoblastic Leukemia 36
1585 PRG008 Paragonimiasis 36
1586 IMM257 Immunodeficiency 7 36
1587 IMM131 Immunodeficiency with Hyper-Igm, Type 4 36
1588 IMM153 Immunodeficiency 51 35
1589 TNP004 Tn Polyagglutination Syndrome 35
1590 c BLD125 Bleeding Disorder, Platelet-Type, 17 35
1591 MYL002 Myelophthisic Anemia 35
1592 TRN030 Transient Erythroblastopenia of Childhood 35
1593 c OST106 Osteopetrosis, Autosomal Recessive 8 34
1594 MTR008 Mature B-Cell Neoplasm 34
1595 c SBR001 Seborrheic Infantile Dermatitis 34
1596 HSH004 Hashimoto Encephalopathy 34
1597 IMM182 Immunodeficiency 31a 34
1598 c RNG029 Ring Chromosome 14 Syndrome 34
1599 AGM004 Agammaglobulinemia, Non-Bruton Type 34
1600 PDT049 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus in 34
1601 c BLD156 Bleeding Disorder, Platelet-Type, 14 33
1602 CNT057 Central Centrifugal Cicatricial Alopecia 33
1603 c SBC003 Subacute Bacterial Endocarditis 33
1604 c ATM113 Autoimmune Cholangitis 33
1605 ANT002 Anti-Basement Membrane Glomerulonephritis 33
1606 c RNG008 Ring Chromosome 13 33
1607 BRS112 Breast Implant-Associated Anaplastic Large Cell Lymphoma 33
1608 c RNG023 Ring Chromosome 7 33
1609 ADN015 Adenoid Basal Cell Carcinoma 32
1610 IMM234 Immunodeficiency 26 32
1611 c BLD133 Bleeding Disorder, Platelet-Type, 20 32
1612 c RNG018 Ring Chromosome 22 32
1613 ECT109 Ectodermal Dysplasia and Immunodeficiency 2 32
1614 c CNG031 Congenital Nervous System Abnormality 32
1615 c PRM022 Primary Syphilis 32
1616 SLC003 Selective Igm Deficiency Disease 31
1617 c PRM374 Primary Cutaneous Gamma-Delta T-Cell Lymphoma 31
1618 c WSK002 Wiskott-Aldrich Syndrome 2 31
1619 c TYP054 Type 1 Diabetes Mellitus 21 31
1620 c LTC001 Late Congenital Syphilis 31
1621 VRS002 Virus-Associated Trichodysplasia Spinulosa 31
1622 IMM195 Immunodeficiency 15b 31
1623 c RNG017 Ring Chromosome 21 31
1624 ANG049 Angioedema Induced by Ace Inhibitors 31
1625 c ATM007 Autoimmune Disease of Central Nervous System 31
1626 c DRM059 Dermatitis, Atopic, 7 31
1627 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 30
1628 P BLR024 Biliary Cirrhosis, Primary, 1 30
1629 c RNG004 Ring Chromosome 1 30
1630 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 30
1631 VNT001 Ventilation Pneumonitis 30
1632 IMM191 Immunodeficiency 56 30
1633 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 29
1634 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 29
1635 LFF002 Loeffler Syndrome 29
1636 DND018 Dendritic Cell Tumor 29
1637 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 29
1638 c RNG022 Ring Chromosome 6 29
1639 c RNG007 Ring Chromosome 12 29
1640 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
1641 MDS019 Mediastinal Malignant Lymphoma 29
1642 CLN005 Colon Lymphoma 29
1643 ATM016 Autoimmune Disease of Skin and Connective Tissue 29
1644 c RNG020 Ring Chromosome 4 28
1645 c ATM013 Autoimmune Disease of Cardiovascular System 28
1646 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 28
1647 ORB009 Orbit Lymphoma 28
1648 c ALP005 Alpha Chain Disease 28
1649 CHR679 Chromium Allergic Contact Dermatitis 28
1650 APP002 Appendix Lymphoma 28
1651 c RNG024 Ring Chromosome 8 28
1652 c RNG005 Ring Chromosome 10 28
1653 c ERL002 Early Congenital Syphilis 28
1654 c ATM098 Autoimmune Peripheral Neuropathy 28
1655 LVR006 Liver Lymphoma 28
1656 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 28
1657 PRN002 Paranasal Sinus Lymphoma 28
1658 c BLD154 Bleeding Disorder, Platelet-Type, 12 28
1659 CHS005 Chest Wall Lymphoma 27
1660 PRM087 Premature Chromatid Separation Trait 27
1661 PNC014 Pancreatic Serous Cystadenocarcinoma 27
1662 c ATS481 Autosomal Dominant Beta Thalassemia 27
1663 IMM118 Immunodeficiency 42 27
1664 P RNG032 Ring Chromosome 27
1665 TFR002 Tafro Syndrome 26
1666 IMM229 Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia 26
1667 c RNG013 Ring Chromosome 18 26
1668 BLD028 Bladder Lymphoma 26
1669 IMM202 Immunodeficiency 64 26
1670 c BCT005 Bacterial Gastritis 26
1671 FRN014 Fournier Gangrene 26
1672 c TYP030 Type 1 Diabetes Mellitus 4 26
1673 THY026 Thymus Gland Disease 26
1674 BLD176 Blood Group, Sid System 25
1675 c ATM105 Autoimmune Disease of Peripheral Nervous System 25
1676 c CHR036 Chronic Cholangitis 25
1677 c BLD132 Bleeding Disorder, Platelet-Type, 21 25
1678 c RNG010 Ring Chromosome 15 25
1679 c RNG016 Ring Chromosome 20 25
1680 NNH013 Non-Histaminic Angioedema 25
1681 IMM198 Immunodeficiency 61 25
1682 c BLD121 Bleeding Disorder, Platelet-Type, 15 25
1683 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 25
1684 c BLD123 Bleeding Disorder, Platelet-Type, 13 25
1685 HRT003 Heart Lymphoma 24
1686 BLY010 B-Lymphoblastic Leukemia/lymphoma with Iamp21 24
1687 c BLD174 Bleeding Disorder, Platelet-Type, 24 24
1688 IMM103 Immunodeficiency 37 24
1689 P MXD058 Mixed Phenotype Acute Leukemia, T/myeloid 24
1690 THY017 Thymus Sarcomatoid Carcinoma 24
1691 c BLD127 Bleeding Disorder, Platelet-Type, 19 24
1692 IMM079 Immunodeficiency, Common Variable, 11 24
1693 c RNG006 Ring Chromosome 11 24
1694 MLT013 Malt Worker's Lung 24
1695 EPT029 Epithelioid Inflammatory Myofibroblastic Sarcoma 24
1696 HDG006 Hodgkin's Paragranuloma 24
1697 c SYS081 Systemic Lupus Erythematosus 17 24
1698 ALL002 Allergic Cutaneous Vasculitis 23
1699 c RNG015 Ring Chromosome 2 23
1700 CRK001 Cork-Handlers' Disease 23
1701 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 23
1702 c RNG019 Ring Chromosome 3 23
1703 IMM199 Immunodeficiency 60 23
1704 BRL013 Baralle-Macken Syndrome 23
1705 c TYP049 Type 2 Diabetes Mellitus 2 23
1706 c RNG025 Ring Chromosome 9 22
1707 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1708 c RNG021 Ring Chromosome 5 22
1709 BLY005 B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy 22
1710 PNC007 Pancreas Lymphoma 22
1711 THY024 Thymus Adenocarcinoma 22
1712 c SYS040 Systemic Lupus Erythematosus 10 22
1713 IMM227 Immunodeficiency 70 22
1714 IMM226 Immunodeficiency 69 22
1715 IMM220 Immunodeficiency 66 22
1716 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 22
1717 c SYS038 Systemic Lupus Erythematosus 2 22
1718 c RNG012 Ring Chromosome 17 22
1719 c SYS069 Systemic Lupus Erythematosus 6 22
1720 c TYP058 Type 2 Diabetes 5 22
1721 IMM032 Immunodeficiency, Common Variable, 5 21
1722 THY011 Thymus Basaloid Carcinoma 21
1723 c DRM055 Dermatitis, Atopic, 3 20
1724 P HRD209 Hereditary Angioedema with Normal C1inh 20
1725 c RRH015 Rare Hemorrhagic Disorder 20
1726 ACT270 Acute Myeloid Leukemia with Mll Rearrangement 20
1727 c RNG011 Ring Chromosome 16 19
1728 DRG017 Drug-Induced Vasculitis 19
1729 c SYS041 Systemic Lupus Erythematosus 9 19
1730 c RNG014 Ring Chromosome 19 19
1731 RCT002 Rectum Lymphoma 19
1732 c ATM115 Autoimmune Limbic Encephalitis 19
1733 c DRM056 Dermatitis, Atopic, 4 19
1734 PPL015 Papillary Thymic Adenocarcinoma 18
1735 IMM204 Immuno-Osseous Dysplasia 18
1736 HRD208 Hereditary Angioedema with C1inh Deficiency 18
1737 c THY008 Thymus Small Cell Carcinoma 18
1738 c RNG031 Ring Chromosome Y Syndrome 18
1739 ATM074 Autoimmune Autonomic Ganglionopathy 18
1740 c SYS065 Systemic Lupus Erythematosus 11 18
1741 c SYS046 Systemic Lupus Erythematosus 3 18
1742 c TYP037 Type 1 Diabetes Mellitus 13 17
1743 c TYP051 Type 2 Diabetes Mellitus 4 17
1744 c SYS048 Systemic Lupus Erythematosus 8 17
1745 c BLD168 Bleeding Disorder, Platelet-Type, 22 17
1746 c DRM061 Dermatitis, Atopic, 9 17
1747 c BN2001 Bn2 Diffuse Large B-Cell Lymphoma 17
1748 c SYS053 Systemic Lupus Erythematosus 5 17
1749 c SYS051 Systemic Lupus Erythematosus 4 16
1750 GLT030 Gluten Allergy 16
1751 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 16
1752 c DRM058 Dermatitis, Atopic, 6 16
1753 c SYS055 Systemic Lupus Erythematosus 12 16
1754 PRD001 Predominantly Cortical Thymoma 16
1755 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 16
1756 c TYP050 Type 2 Diabetes Mellitus 3 15
1757 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
1758 c GRV009 Graves Disease 2 15
1759 c BLR017 Biliary Cirrhosis, Primary, 3 15
1760 HYP692 Hypersensitivity Pneumonitis, Familial 15
1761 c SYS052 Systemic Lupus Erythematosus 13 15
1762 c VRL009 Viral Gastritis 15
1763 SPL013 Splenic Manifestation of Leukemia 15
1764 c CLC009 Clcn7-Related Osteopetrosis 14
1765 c SYS047 Systemic Lupus Erythematosus 7 14
1766 ATT023 Attenuated Chediak-Higashi Syndrome 14
1767 BLD159 Blood Group, Junior System 13
1768 BLY017 B-Lymphoblastic Leukemia/lymphoma Mll Rearranged 13
1769 c HRD203 Hereditary Lymphedema Id 13
1770 c SYS045 Systemic Lupus Erythematosus 14 13
1771 c SYS067 Systemic Lupus Erythematosus 15 11
1772 CHL146 Chloramine T Respiratory Allergy 11
1773 BLD160 Blood Group, John Milton Hagen System 11
1774 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 11
1775 c ACQ054 Acquired Peripheral Neuropathy 11
1776 ECT115 Ectodermal Dysplasia and Immune Deficiency 11
1777 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 10
1778 MSH001 Mushroom Workers' Lung 10
1779 P RRP027 Rare Peripheral Neuropathy 10
1780 HRD225 Hereditary Angioedema with Normal C1inh Not Related to F12 or Plg Variant 9
1781 c ALP113 Alpha-Thalassemia and Related Disorders 8
1782 c INF187 Infectious Disease of the Nervous System 8
1783 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 8
1784 CBL009 Cobalt Allergic Contact Dermatitis 7
1785 MTH001 Methotrexate-Associated Lymphoproliferation 7
1786 c RRH028 Rare Hemorrhagic Disorder Due to a Constitutional Platelet Anomaly 7
1787 c RRH018 Rare Hemorrhagic Disorder Due to a Qualitative Platelet Defect 7
1788 SPL010 Splenic Manifestation of Hairy Cell Leukemia 7
1789 c RRD067 Rare Diabetes Mellitus 7
1790 c BTT015 Beta-Thalassemia and Related Diseases 7
1791 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
1792 c RRH016 Rare Hemorrhagic Disorder Due to an Acquired Platelet Anomaly 7
1793 c RRH013 Rare Hemorrhagic Disorder Due to a Platelet Anomaly 7
1794 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
1795 BNZ004 Benzoic Acid Allergic Contact Dermatitis 6
1796 ACQ052 Acquired Angioedema with C1inh Deficiency 6
1797 INT035 Intrapelvic Lymph Node Leukemic Reticuloendotheliosis 6
1798 OCC014 Occupational Allergic Alveolitis 6
1799 c HRD205 Hereditary Lymphedema Ib 6
1800 BLY007 B-Lymphoblastic Leukemia/lymphoma with Il3-Igh 6
1801 c RRH017 Rare Hemorrhagic Disorder Due to a Constitutional Thrombocytopenia 6
1802 KTP001 Ketoprofen Photoallergic Dermatitis 6
1803 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 6
1804 c RRR007 Rare Urticaria 6
1805 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 6
1806 c RRD013 Rare Diabetes Mellitus Type 2 5
1807 c RRD012 Rare Diabetes Mellitus Type 1 5
1808 NNN002 Noninvasive Malignant Thymoma 5
1809 c A53001 A53 Diffuse Large B-Cell Lymphoma 5
1810 MXD056 Mixed Phenotype Acute Leukemia with Mll Rearranged 5
1811 c RRH029 Rare Hemorrhagic Disorder Due to a Constitutional Coagulation Factors Defect 5
1812 c RRH014 Rare Hemorrhagic Disorder Due to a Coagulation Factors Defect 5
1813 c RRH002 Rare Hemorrhagic Disorder Due to an Acquired Coagulation Factor Defect 5
1814 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 5
1815 c RRH001 Rare Hereditary Disease with Peripheral Neuropathy 5
1816 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 5
1817 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
1818 DNR008 Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies 4
1819 VSC023 Vasculitis Syndromes of the Central and Peripheral Nervous Systems 4
1820 c INF178 Infectious Disease with Peripheral Neuropathy 4
1821 NCK003 Nickel Allergic Asthma 4
1822 4VN001 4-Vinylcyclohexene Dioxide Respiratory Allergy 4
1823 RMZ001 Remazole Black Respiratory Allergy 4
1824 SPL002 Splenic Manifestation of Prolymphocytic Leukemia 4
1825 PST038 Positive Rheumatoid Factor Polyarthritis 3
1826 ACD012 Acid Anhydride Respiratory Allergy 3
1827 c RRH019 Rare Hereditary Systemic Disease with Peripheral Neuropathy 3
1828 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
1829 MRK001 Merkel Cell Carcinoma 67
1830 ACC005 Accessory Pancreas 27
1831 WTL002 Wt Limb-Blood Syndrome 25
1832 c FNC027 Fanconi Anemia, Complementation Group a 80
1833 IMM167 Immune Deficiency Disease 79
1834 P DMN001 Diamond-Blackfan Anemia 74
1835 c HMP029 Hemophilia a 73
1836 c HMP004 Hemophilia B 70
1837 P FLL037 Follicular Lymphoma 69
1838 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 67
1839 SVR004 Severe Combined Immunodeficiency 66
1840 ADN011 Adenoid Cystic Carcinoma 65
1841 PLS009 Plasma Cell Neoplasm 65
1842 c DMN023 Diamond-Blackfan Anemia 1 64
1843 c ANM038 Anemia, Autoimmune Hemolytic 64
1844 ANG020 Angiosarcoma 64
1845 P HRM001 Hermansky-Pudlak Syndrome 63
1846 P HML002 Hemolytic Anemia 63
1847 IMM174 Immunodeficiency with Hyper-Igm, Type 1 63
1848 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
1849 PRM236 Primary Biliary Cholangitis 62
1850 BLL006 Bullous Pemphigoid 61
1851 SZR001 Sezary's Disease 61
1852 ACQ007 Acquired Immunodeficiency Syndrome 60
1853 P TXP001 Toxoplasmosis 60
1854 BRG013 Buerger Disease 59
1855 P WHM002 Whim Syndrome 1 59
1856 NTR042 Neutrophilic Dermatosis, Acute Febrile 59
1857 P LYM033 Lymphoproliferative Syndrome 58
1858 c CNG021 Congenital Toxoplasmosis 58
1859 P OPT009 Optic Neuritis 57
1860 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1861 LYM021 Lymphadenitis 57
1862 c HRM005 Hermansky-Pudlak Syndrome 1 57
1863 c PRM012 Primary Polycythemia 57
1864 ALL006 Allergic Asthma 57
1865 P FNC044 Fanconi Anemia, Complementation Group C 56
1866 HYP458 Hyper Ige Syndrome 56
1867 DSS009 Disseminated Intravascular Coagulation 56
1868 c HRM017 Hermansky-Pudlak Syndrome 2 56
1869 c CHL140 Chilblain Lupus 1 56
1870 CPL003 Capillary Leak Syndrome 55
1871 TNS005 Tonsillitis 55
1872 CSP005 Caspase 8 Deficiency 55
1873 RCT015 Reactive Arthritis 55
1874 P FML052 Familial Cold Autoinflammatory Syndrome 55
1875 P ALL008 Allergic Bronchopulmonary Aspergillosis 55
1876 P PLY018 Polycythemia 55
1877 ERD001 Erdheim-Chester Disease 54
1878 LYM040 Lymphoblastic Lymphoma 53
1879 c FNC045 Fanconi Anemia, Complementation Group F 53
1880 c LKM070 Leukemia, Acute Monocytic 53
1881 TCL027 T-Cell Acute Lymphoblastic Leukemia 52
1882 ADL104 Adult T-Cell Leukemia/lymphoma 52
1883 SCH002 Schnitzler Syndrome 52
1884 P HMP007 Hemophilia 52
1885 P MMB011 Membranous Nephropathy 51
1886 HPT070 Hepatosplenic T-Cell Lymphoma 51
1887 IMM064 Immunodeficiency, Common Variable, 10 51
1888 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 51
1889 ALL009 Allergic Conjunctivitis 51
1890 c FML253 Familial Cold Autoinflammatory Syndrome 3 51
1891 c FNC032 Fanconi Anemia, Complementation Group B 50
1892 P BLY001 B-Lymphoblastic Leukemia/lymphoma 50
1893 c HRM009 Hermansky-Pudlak Syndrome 6 50
1894 IMM105 Immunodeficiency with Hyper-Igm, Type 3 50
1895 c HRM006 Hermansky-Pudlak Syndrome 3 49
1896 LYM012 Lymphoplasmacytic Lymphoma 49
1897 EPD006 Epidermolysis Bullosa Acquisita 49
1898 c FNC048 Fanconi Anemia, Complementation Group O 48
1899 RTC005 Reticulosarcoma 48
1900 MKL001 Mikulicz Disease 48
1901 CMP004 Complement Factor I Deficiency 48
1902 c HRM008 Hermansky-Pudlak Syndrome 5 48
1903 MCR020 Microsporidiosis 47
1904 c FNC023 Fanconi Anemia, Complementation Group N 47
1905 c FML117 Familial Cold Autoinflammatory Syndrome 2 47
1906 c HRM012 Hermansky-Pudlak Syndrome 9 46
1907 PRL017 Prolymphocytic Leukemia 46
1908 P CTN003 Cutaneous Lupus Erythematosus 46
1909 c CHR576 Chronic Beryllium Disease 46
1910 c DMN021 Diamond-Blackfan Anemia 6 45
1911 SBL008 Sea-Blue Histiocyte Disease 45
1912 c DMN029 Diamond-Blackfan Anemia 11 45
1913 CTS002 Cat-Scratch Disease 45
1914 IMM066 Immunodeficiency 9 44
1915 TNS004 Tonsil Cancer 44
1916 IMM070 Immunodeficiency 13 44
1917 NSL029 Nasal Type Extranodal Nk/t-Cell Lymphoma 44
1918 c SVR107 Severe Congenital Neutropenia 3 44
1919 IMM096 Immunodeficiency 30 43
1920 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 43
1921 GHS005 Ghosal Hematodiaphyseal Dysplasia 42
1922 c DMN006 Diamond-Blackfan Anemia 3 42
1923 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 42
1924 IMM186 Immunodeficiency 27b 42
1925 IMM178 Immunodeficiency 31b 42
1926 BCL002 B Cell Deficiency 42
1927 LYM008 Lymphangiosarcoma 41
1928 c HRM007 Hermansky-Pudlak Syndrome 4 41
1929 c FNC058 Fanconi Anemia, Complementation Group R 41
1930 C1Q001 C1q Deficiency 40
1931 IGP001 Iga Pemphigus 40
1932 CMP001 Composite Lymphoma 40
1933 c ACQ012 Acquired Angioedema 40
1934 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 40
1935 c FNC057 Fanconi Anemia, Complementation Group U 40
1936 c DMN017 Diamond-Blackfan Anemia 10 40
1937 c HRM010 Hermansky-Pudlak Syndrome 7 40
1938 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 39
1939 NDL024 Nodal Marginal Zone Lymphoma 39
1940 ADN013 Adenoid Squamous Cell Carcinoma 39
1941 c DMN020 Diamond-Blackfan Anemia 8 38
1942 c HRM011 Hermansky-Pudlak Syndrome 8 38
1943 OPH002 Ophthalmia Neonatorum 38
1944 c DMN024 Diamond-Blackfan Anemia 7 38
1945 DRG013 Drug-Induced Lupus Erythematosus 37
1946 IMM145 Immunodeficiency 11b with Atopic Dermatitis 37
1947 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 36
1948 c FML270 Familial Cold Autoinflammatory Syndrome 4 36
1949 PRP005 Parapsoriasis 36
1950 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 36
1951 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 36
1952 HST022 Histiocytoma, Angiomatoid Fibrous 36
1953 HGH045 High-Grade B-Cell Lymphoma Double-Hit/triple-Hit 35
1954 CRB001 Cerebral Lymphoma 35
1955 c FNC056 Fanconi Anemia, Complementation Group V 35
1956 c SBC035 Subacute Cutaneous Lupus Erythematosus 35
1957 GST014 Gastrointestinal Lymphoma 35
1958 P HVY001 Heavy Chain Disease 34
1959 LYM157 Lymph Node Carcinoma 34
1960 c CHL157 Childhood B-Cell Acute Lymphoblastic Leukemia 34
1961 c DMN018 Diamond-Blackfan Anemia 5 33
1962 XLN245 X-Linked Immunodeficiency 74 33
1963 NNT049 Nontuberculous Mycobacterial Lung Disease 33
1964 FLC001 Folic Acid Deficiency Anemia 33
1965 IMM135 Immunodeficiency 46 32
1966 SLT001 Solitary Osseous Plasmacytoma 32
1967 P PRT257 Portal Hypertension, Noncirrhotic, 1 32
1968 c CHR064 Chronic Monocytic Leukemia 32
1969 c DMN005 Diamond-Blackfan Anemia 2 32
1970 RTN011 Retina Lymphoma 32
1971 c DMN049 Diamond-Blackfan Anemia 20 32
1972 LNG013 Lung Lymphoma 32
1973 ATY012 Atypical Mycobacteriosis, Familial 31
1974 c ACQ014 Acquired Hemophilia 31
1975 c ACQ042 Acquired Hemophilia a 30
1976 c FNC062 Fanconi Anemia, Complementation Group S 30
1977 PHT004 Photoallergic Dermatitis 30
1978 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 29
1979 PLL016 Palladium Allergic Contact Dermatitis 29
1980 c ATM100 Autoimmune Optic Neuritis 29
1981 c DMN022 Diamond-Blackfan Anemia 9 29
1982 CHR463 Chronic Actinic Dermatitis 29
1983 HYP160 Hyperkeratosis Lenticularis Perstans 28
1984 c ADL093 Adult Acute Monocytic Leukemia 28
1985 c DMN019 Diamond-Blackfan Anemia 4 28
1986 IMM172 Immunodeficiency 34 27
1987 IMM134 Immunodeficiency, Common Variable, 13 27
1988 IMM150 Immunodeficiency 52 27
1989 SDM007 Sodium-Dependent Multivitamin Transporter Deficiency 27
1990 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 27
1991 c HRM023 Hermansky-Pudlak Syndrome 11 26
1992 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 26
1993 NCK004 Nickel Allergic Contact Dermatitis 26
1994 P FML337 Familial Chilblain Lupus 26
1995 THY027 Thymus Squamous Cell Carcinoma 26
1996 LYM023 Lymphatic System Cancer 26
1997 c FNC061 Fanconi Anemia, Complementation Group W 25
1998 P BLY002 B-Lymphoblastic Leukemia/lymphoma with Bcr-Abl1 25
1999 SPL001 Spleen Angiosarcoma 25
2000 c DMN045 Diamond-Blackfan Anemia-Like 25
2001 PRS002 Prostate Lymphoma 24
2002 IMM228 Immunodeficiency 72 with Autoinflammation 24
2003 c DMN028 Diamond-Blackfan Anemia 12 24
2004 c CHL114 Chilblain Lupus 2 23
2005 c ATS209 Autosomal Dominant Secondary Polycythemia 23
2006 BLY006 B-Lymphoblastic Leukemia/lymphoma with Hypodiploidy 23
2007 c DMN030 Diamond-Blackfan Anemia 13 23
2008 c MNS019 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 22
2009 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 22
2010 c INF195 Inflammatory Bowel Disease 31, Autosomal Recessive 22
2011 NSL004 Nasal Cavity Lymphoma 22
2012 c THY018 Thymus Clear Cell Carcinoma 22
2013 c CHR686 Chronic Cutaneous Lupus Erythematosus 22
2014 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 21
2015 IMM200 Immunodeficiency 62 21
2016 c DMN040 Diamond-Blackfan Anemia 16 20
2017 c DMN039 Diamond-Blackfan Anemia 17 20
2018 BLY004 B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 20
2019 c ATM112 Autoimmune Hepatitis Type 1 20
2020 c DMN047 Diamond-Blackfan Anemia 18 20
2021 c DMN050 Diamond-Blackfan Anemia 21 19
2022 c DMN048 Diamond-Blackfan Anemia 19 18
2023 DFF042 Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type 18
2024 c ATM111 Autoimmune Hepatitis Type 2 18
2025 c RRC001 Rare Cutaneous Lupus Erythematosus 17
2026 IMM235 Immunodeficiency 65 17
2027 c CNG542 Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization 16
2028 BLY008 B-Lymphoblastic Leukemia/lymphoma with Tcf3-Pbx1 16
2029 DNT050 Dentin Dysplasia with Sclerotic Bones 15
2030 THY010 Thymus Mucoepidermoid Carcinoma 14
2031 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 14
2032 c ACQ071 Acquired Hemophilia B 12
2033 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 12
2034 c RRH032 Rare Hemolytic Anemia 12
2035 c CNG266 Congenital Secondary Polycythemia 9
2036 c ACQ028 Acquired Secondary Polycythemia 9
2037 c SBC015 Subacute Monocytic Leukemia 8
2038 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
2039 LYM156 Lymph Node Benign Neoplasm 7
2040 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 7
2041 c RRC006 Rare Acquired Hemolytic Anemia 7
2042 THY012 Thymus Adenosquamous Carcinoma 7
2043 FRM010 Formaldehyde Allergic Contact Dermatitis 7
2044 INT057 Intra-Abdominal Lymph Node Mast Cell Malignancy 7
2045 WLD001 Waldeyer's Ring Cancer 6
2046 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
2047 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
2048 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 6
2049 c PLY005 Polycythemia Due to Hypoxia 6
2050 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 6
2051 c PRM296 Primary Autoimmune Enteropathy 5
2052 LYM108 Lymph Node Adenoid Cystic Carcinoma 5
2053 PRT137 Parthenolide Allergic Contact Dermatitis 5
2054 CRV076 Carvone Allergic Contact Dermatitis 5
2055 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 5
2056 MXD055 Mixed Phenotype Acute Leukemia with Bcr-Abl1 5
2057 c HML056 Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes 5
2058 c HML057 Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies 5
2059 RRL004 Rare Allergic Respiratory Disease 4
2060 PTS020 Potassium Dichromate Allergic Contact Dermatitis 4
2061 P BRS047 Breast Cancer 97
2062 SCK003 Sickle Cell Anemia 76
2063 P TMP003 Temporal Arteritis 69
2064 BRK010 Burkitt Lymphoma 67
2065 c HRD002 Hereditary Angioedema 66
2066 P HYP098 Hypereosinophilic Syndrome 66
2067 GRN037 Granulomatosis with Polyangiitis 65
2068 P GLL018 Gallbladder Cancer 65
2069 P DRM053 Dermatitis, Atopic 65
2070 OST017 Osteomyelitis 63
2071 c PSR021 Psoriasis 14, Pustular 62
2072 c ATM011 Autoimmune Hepatitis 62
2073 HNC001 Henoch-Schoenlein Purpura 61
2074 HSH003 Hashimoto Thyroiditis 59
2075 INC002 Inclusion Body Myositis 59
2076 c ANG070 Angioedema, Hereditary, 1 59
2077 c BNG091 Benign Chronic Pemphigus 58
2078 PLS011 Plasmacytoma 57
2079 ALL010 Allergic Contact Dermatitis 56
2080 ERY003 Erythema Multiforme 56
2081 P FML068 Familial Hypocalciuric Hypercalcemia 55
2082 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 55
2083 P ANG015 Angioedema 55
2084 CCT002 Cicatricial Pemphigoid 55
2085 IMM080 Immunodeficiency 23 54
2086 P LCH002 Lichen Planus 54
2087 c BRL011 Bare Lymphocyte Syndrome, Type I 53
2088 P HML001 Hemolytic-Uremic Syndrome 53
2089 IMM166 Immunodeficiency 27a 52
2090 IMM095 Immunodeficiency 35 52
2091 c HRD117 Hereditary Breast Cancer 52
2092 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 51
2093 c INF023 Inflammatory Breast Carcinoma 51
2094 PLS016 Plasma Cell Leukemia 50
2095 LMT001 Limited Scleroderma 50
2096 ANT039 Antisynthetase Syndrome 49
2097 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 49
2098 SPH001 Sapho Syndrome 49
2099 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 48
2100 IMM081 Immunodeficiency 19 48
2101 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 48
2102 c LYM107 Lymphoproliferative Syndrome 2 48
2103 IMM120 Immunodeficiency 40 48
2104 P PLM025 Pulmonary Venoocclusive Disease 48
2105 c BRS049 Breast Carcinoma in Situ 47
2106 c LYM106 Lymphoproliferative Syndrome 1 47
2107 CMP028 Complement Component 2 Deficiency 46
2108 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 46
2109 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 45
2110 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
2111 P PST059 Pustular Psoriasis 44
2112 GST027 Gastric Lymphoma 43
2113 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
2114 c SPR009 Sporadic Breast Cancer 42
2115 PRP038 Properdin Deficiency, X-Linked 41
2116 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 40
2117 IMM138 Immunodeficiency 32b 40
2118 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 39
2119 c SVR110 Severe Congenital Neutropenia 4 39
2120 IMM181 Immunodeficiency 29 39
2121 c HRD206 Hereditary Lymphedema Ii 38
2122 IMM077 Immunodeficiency 20 38
2123 MLT075 Multifocal Motor Neuropathy 38
2124 c GMM003 Gamma Heavy Chain Disease 37
2125 IMM225 Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia 37
2126 SPL011 Spleen Cancer 36
2127 c PRM149 Primary Hypereosinophilic Syndrome 36
2128 IMM219 Immunodeficiency 57 with Autoinflammation 36
2129 P BNL002 Bone Lymphoma 35
2130 BRS001 Breast Lymphoma 34
2131 SML008 Small Intestine Lymphoma 33
2132 PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 30
2133 BLN004 Balantidiasis 30
2134 IMM239 Immunodeficiency 79 29
2135 c EYL003 Eye Lymphoma 28
2136 IMM194 Immunodeficiency 59 and Hypoglycemia 26
2137 c JVN019 Juvenile Temporal Arteritis 26
2138 LNR001 Leiner Disease 25
2139 c BLY009 B-Lymphoblastic Leukemia/lymphoma, Bcr-Abl1-Like 24
2140 c ANG072 Angioedema, Hereditary, 4 23
2141 c GLL050 Gallbladder Carcinoma in Situ 22
2142 P ATM076 Autoimmune Retinopathy 22
2143 P THY005 Thymus Large Cell Carcinoma 22
2144 c ANG073 Angioedema, Hereditary, 5 20
2145 c ANG074 Angioedema, Hereditary, 6 20
2146 c PSR022 Psoriasis 15, Pustular 20
2147 c ANG076 Angioedema, Hereditary, 8 19
2148 c ANG075 Angioedema, Hereditary, 7 17
2149 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 17
2150 c SCN042 Secondary Hypereosinophilic Syndrome 15
2151 c NDP001 Ndp-Related Retinopathies 13
2152 c RRL001 Rare Lichen Planus 12
2153 c LCH017 Lichen Planus, Familial 12
2154 ALL005 Allergic Contact Dermatitis of Eyelid 7
2155 ANS007 Anus Lymphoma 7
2156 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
2157 ABD004 Abdominal Tuberculosis 41
2158 P FML018 Familial Mediterranean Fever 75
2159 LYM143 Lymphoma, Non-Hodgkin, Familial 74
2160 LKC009 Leukocyte Adhesion Deficiency, Type I 71
2161 OMN001 Omenn Syndrome 67
2162 MNT001 Mantle Cell Lymphoma 67
2163 P THY023 Thymoma 65
2164 PSR001 Psoriatic Arthritis 63
2165 P PLY017 Polyarteritis Nodosa 62
2166 P BCL017 B-Cell Lymphoma 61
2167 ADL030 Adult-Onset Still's Disease 59
2168 CHR063 Chronic Mucocutaneous Candidiasis 59
2169 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
2170 LG4001 Lig4 Syndrome 57
2171 OCL009 Ocular Cancer 57
2172 HYP074 Hypersensitivity Vasculitis 56
2173 CD4003 Cd40 Ligand Deficiency 56
2174 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 56
2175 ANS011 Anus Cancer 55
2176 LKC005 Leukocyte Adhesion Deficiency, Type Iii 55
2177 HRY003 Hairy Cell Leukemia 55
2178 ORT008 Orotic Aciduria 54
2179 SRM004 Serum Amyloid a Amyloidosis 54
2180 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
2181 PRM373 Primary Cutaneous T-Cell Non-Hodgkin Lymphoma 52
2182 SND002 Sneddon Syndrome 50
2183 IGG007 Igg4-Related Disease 50
2184 ACT095 Acute Biphenotypic Leukemia 50
2185 MCR088 Microscopic Polyangiitis 49
2186 IMM184 Immunodeficiency 17 49
2187 PLS025 Plasmablastic Lymphoma 48
2188 IMM275 Immunodeficiency 104 47
2189 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 45
2190 TST004 Testicular Lymphoma 43
2191 IMM071 Immunodeficiency 12 43
2192 IMM190 Immunodeficiency 55 39
2193 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
2194 c SYS066 Systemic Polyarteritis Nodosa 28
2195 c FML344 Familial Mediterranean Fever, Autosomal Dominant 26
2196 c PRM222 Primary Polyarteritis Nodosa 14
2197 c SCN055 Secondary Polyarteritis Nodosa 12
2198 c BTT014 Beta-Thalassemia 70
2199 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 68
2200 c CNG411 Congenital Disorder of Glycosylation, Type in 67
2201 CNC002 Cinca Syndrome 66
2202 P LYM118 Lymphoma 65
2203 MYC006 Mycosis Fungoides 65
2204 CHR001 Churg-Strauss Syndrome 61
2205 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
2206 P DRM010 Dermatomyositis 61
2207 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
2208 c MLG084 Malignant Fibrous Histiocytoma 57
2209 THY025 Thymus Cancer 57
2210 RLP001 Relapsing Polychondritis 54
2211 FLT011 Felty Syndrome 53
2212 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
2213 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
2214 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
2215 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
2216 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
2217 TCL002 T-Cell Large Granular Lymphocyte Leukemia 49
2218 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
2219 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
2220 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
2221 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
2222 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
2223 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
2224 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
2225 IMM104 Immunodeficiency with Hyper-Igm, Type 2 46
2226 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
2227 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
2228 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
2229 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
2230 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
2231 P FBR003 Fibrous Histiocytoma 43
2232 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
2233 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
2234 c CNG379 Congenital Disorder of Glycosylation, Type It 42
2235 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
2236 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
2237 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
2238 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
2239 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
2240 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
2241 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38
2242 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
2243 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
2244 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
2245 c CNG188 Congenital Disorder of Glycosylation, Type if 35
2246 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
2247 c PRM039 Primary Angiitis of the Central Nervous System 34
2248 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
2249 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 29
2250 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
2251 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
2252 c MLG167 Malignant Inflammatory Fibrous Histiocytoma 26
2253 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
2254 SPN026 Spinal Cord Lymphoma 26
2255 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
2256 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
2257 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
2258 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
2259 c CNG628 Congenital Disorder of Glycosylation Iw 9
2260 P DSR041 Disorder of Multiple Glycosylation 6
2261 P BNG037 Benign Angiitis of the Central Nervous System 6
2262 P GST053 Gastric Cancer 83
2263 P WSK001 Wiskott-Aldrich Syndrome 72
2264 c PNC108 Pancreatitis, Hereditary 70
2265 MST024 Mastocytosis, Cutaneous 65
2266 CHL028 Childhood Type Dermatomyositis 61
2267 c ACT027 Acute Pancreatitis 59
2268 PMP006 Pemphigus Vulgaris, Familial 59
2269 P PNC044 Pancreatitis 57
2270 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 55
2271 NRM019 Neuraminidase Deficiency 53
2272 INT054 Intraocular Lymphoma 49
2273 c ATM024 Autoimmune Pancreatitis 48
2274 CRY008 Cryopyrin-Associated Periodic Syndrome 48
2275 MLK003 Melkersson-Rosenthal Syndrome 46
2276 IMM177 Immunodeficiency 54 44
2277 VBR001 Vibratory Urticaria 40
2278 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 37
2279 c PRS050 Prss1-Related Hereditary Pancreatitis 30
2280 c ATM063 Autoimmune Pancreatitis Type 2 18
2281 c HRD215 Hereditary Gastric Cancer 16
2282 c WSK004 Wiskott-Aldrich Syndrome, Autosomal Dominant 16
2283 c PRD013 Periodic Fever, Familial, Autosomal Dominant 68
2284 IMM078 Immunodeficiency 21 59
2285 IMM140 Immunodeficiency 47 59
2286 IMM179 Immunodeficiency 31c 46
2287 P BCL021 B-Cell Prolymphocytic Leukemia 44
2288 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 42
2289 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 35
2290 P HRD214 Hereditary Periodic Fever Syndrome 30



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