Blood Diseases Category (2171 diseases)


Including: Blood, Hematological, Arythrocytes, Hemoglobin, Thalassemia, Clotting
See other categories (disease lists)

# Family MCID Name MIFTS
1 GLN010 Glanzmann Thrombasthenia 67
2 c BTT014 Beta-Thalassemia 72
3 P THL005 Thalassemia 65
4 P BRN019 Bernard-Soulier Syndrome 60
5 GRY002 Gray Platelet Syndrome 57
6 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 36
7 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 36
8 P ESS003 Essential Thrombocythemia 69
9 THR100 Thrombocytopenic Purpura, Autoimmune 67
10 c THR071 Thrombocytopenia 1 49
11 PRT012 Prothrombin Deficiency 39
12 c PRT045 Prothrombin-Related Thrombophilia 16
13 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
14 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 62
15 HRD083 Hereditary Antithrombin Deficiency 32
16 P THR005 Thrombotic Thrombocytopenic Purpura 62
17 c ALP101 Alpha-Thalassemia 60
18 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 53
19 P SCK034 Sickle Beta Thalassemia 33
20 P HMG032 Hemoglobin H Disease 53
21 SCT005 Scott Syndrome 48
22 GHS005 Ghosal Hematodiaphyseal Dysplasia 28
23 BLD053 Blood Platelet Disease 56
24 THR009 Thrombocytopenia-Absent Radius Syndrome 45
25 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
26 HMT002 Hematologic Cancer 64
27 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 61
28 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 49
29 SCK003 Sickle Cell Anemia 74
30 STR081 Stormorken Syndrome 51
31 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 22
32 QBC001 Quebec Platelet Disorder 35
33 ANT009 Antithrombin Iii Deficiency 58
34 FCT013 Factor V Leiden Thrombophilia 17
35 c THR092 Thrombophilia Due to Thrombin Defect 69
36 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 42
37 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 40
38 c BLD152 Bleeding Disorder, Platelet-Type, 16 37
39 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 33
40 c VNW008 Von Willebrand Disease, Type 3 50
41 c PSD048 Pseudo-Von Willebrand Disease 43
42 c BLD123 Bleeding Disorder, Platelet-Type, 13 24
43 c MYH004 Myh9 Related Thrombocytopenia 28
44 PRT129 Prothrombin Deficiency, Congenital 51
45 HMN035 Hemangioma-Thrombocytopenia Syndrome 41
46 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 27
47 c BLD125 Bleeding Disorder, Platelet-Type, 17 26
48 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 24
49 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 26
50 PRT011 Protein C Deficiency 49
51 c THR037 Thrombocytopenia 2 28
52 ALP013 Alpha-Thalassemia Myelodysplasia Syndrome 27
53 P BLD120 Bleeding Disorder, Platelet-Type, 8 27
54 STR089 Storage Pool Platelet Disease 47
55 THR101 Thrombocytopenia, Paris-Trousseau Type 24
56 c BLD121 Bleeding Disorder, Platelet-Type, 15 21
57 c BLD154 Bleeding Disorder, Platelet-Type, 12 22
58 HRD164 Hereditary Antithrombin Deficiency Type I 6
59 HRD163 Hereditary Antithrombin Deficiency Type 2 6
60 c BLD124 Bleeding Disorder, Platelet-Type, 11 58
61 HPR003 Heparin-Induced Thrombocytopenia 53
62 PLT004 Platelet Glycoprotein Iv Deficiency 44
63 c THR102 Thrombocytopenia 5 25
64 P WSK001 Wiskott-Aldrich Syndrome 76
65 c THR090 Thrombocythemia 1 38
66 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 35
67 PRX008 Paroxysmal Cold Hemoglobinuria 30
68 c WSK002 Wiskott-Aldrich Syndrome 2 26
69 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 16
70 SCK020 Sickle Cell - Hemoglobin D Disease 16
71 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 24
72 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 23
73 c BLD133 Bleeding Disorder, Platelet-Type, 20 21
74 THR016 Thrombophlebitis 54
75 c BLD127 Bleeding Disorder, Platelet-Type, 19 24
76 P HML033 Hemolytic Uremic Syndrome, Atypical 1 64
77 c THR082 Thrombophilia Due to Activated Protein C Resistance 61
78 INT078 Intracranial Thrombosis 48
79 c HML034 Hemolytic Uremic Syndrome, Atypical 3 24
80 c HML035 Hemolytic Uremic Syndrome, Atypical 2 24
81 c HML032 Hemolytic Uremic Syndrome, Atypical 4 24
82 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
83 c HML036 Hemolytic Uremic Syndrome, Atypical 6 23
84 BLD141 Blood Group--Kell System 23
85 P THR014 Thrombocytopenia 64
86 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 22
87 HMG005 Hemoglobinopathy 54
88 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 39
89 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 25
90 c THR110 Thrombocytopenia 6 22
91 c HYP595 Hypertension, Essential 81
92 P FML187 Familial Hypertension 42
93 c THR111 Thrombocytopenia 3 36
94 c MLG039 Malignant Essential Hypertension 29
95 c BNG021 Benign Essential Hypertension 26
96 c MLG080 Malignant Secondary Hypertension 25
97 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 22
98 c BLD126 Bleeding Disorder, Platelet-Type, 18 20
99 c THR048 Thrombocytopenia 4 19
100 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 17
101 c HYP452 Hypertension, Essential 6 11
102 BLD160 Blood Group, John Milton Hagen System 11
103 c HYP449 Hypertension, Essential 3 11
104 c HYP450 Hypertension, Essential 4 11
105 c HYP451 Hypertension, Essential 5 10
106 c HYP447 Hypertension, Essential 1 10
107 c HYP454 Hypertension, Essential 8 10
108 c HYP453 Hypertension, Essential 7 10
109 c HYP448 Hypertension, Essential 2 10
110 c BNG034 Benign Secondary Hypertension 7
111 THR024 Thrombosis 64
112 THR116 Thrombocytopenia, Cyclic 26
113 WTL002 Wt Limb-Blood Syndrome 23
114 c BLD157 Bleeding Disorder, Platelet-Type, 9 19
115 MND006 Mondor Disease 19
116 BLD146 Blood Group, P1pk System 18
117 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 18
118 THR039 Thrombocytopenia Robin Sequence 8
119 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 3
120 FCT007 Factor Vii Deficiency 60
121 THR004 Thrombocytosis 55
122 MTH064 Methemoglobinemia, Beta-Globin Type 37
123 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 34
124 c BLD156 Bleeding Disorder, Platelet-Type, 14 29
125 c THR086 Thrombocythemia 3 25
126 P VNW001 Von Willebrand's Disease 62
127 CNT010 Central Nervous System Hematologic Cancer 31
128 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 28
129 BLD167 Blood Group, Kidd System 25
130 PLM033 Pulmonary Embolism 64
131 P HMP007 Hemophilia 62
132 SCK005 Sickle Cell Disease 57
133 CYC010 Cyclic Neutropenia 54
134 P BLD051 Blood Coagulation Disease 52
135 CHR466 Chronic Thromboembolic Pulmonary Hypertension 44
136 c HMG001 Hemoglobin C Disease 43
137 SGT001 Sagittal Sinus Thrombosis 36
138 HPR006 Heparin Cofactor Ii Deficiency 30
139 CVR002 Cavernous Sinus Thrombosis 28
140 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 23
141 c BLD132 Bleeding Disorder, Platelet-Type, 21 22
142 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 22
143 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 21
144 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 17
145 MCR041 Macrothrombocytopenia Progressive Deafness 13
146 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 12
147 RPH001 Raph Blood Group System 10
148 FMR001 Femoral Vein Thrombophlebitis 10
149 PRM053 Primary Release Disorder of Platelets 10
150 WHT007 White Platelet Syndrome 9
151 P HMT005 Hematocrit/hemoglobin Quantitative Trait Locus 1 6
152 c HMT006 Hematocrit/hemoglobin Quantitative Trait Locus 2 6
153 c HMT007 Hematocrit/hemoglobin Quantitative Trait Locus 3 6
154 RTC002 Reticular Dysgenesis 53
155 BLD054 Blood Protein Disease 43
156 c HMG003 Hemoglobin E Disease 43
157 c SCP001 Sc Phocomelia Syndrome 38
158 c HMG029 Hemoglobin Se Disease 28
159 c DKP001 Dk Phocomelia Syndrome 23
160 P PHC014 Phocomelia 22
161 c THR023 Thrombophilia Due to Thrombomodulin Defect 19
162 c THR087 Thrombocythemia 2 17
163 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 16
164 c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 16
165 c HMP004 Hemophilia B 66
166 BRG013 Buerger Disease 60
167 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52
168 PRT018 Portal Vein Thrombosis 50
169 BLD165 Blood Group, Colton System 34
170 BLC004 Blackwater Fever 33
171 c BLD140 Blood Group, I System 29
172 BLD159 Blood Group, Junior System 28
173 BLD162 Blood Group, Vel System 23
174 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
175 BLD155 Blood Group, Cromer System 19
176 PRN017 Perianal Hematoma 19
177 BLD166 Blood Group, Diego System 9
178 BLD158 Blood Group, Chido/rodgers System 8
179 DFC004 Deficiency Anemia 66
180 FCT002 Factor Xi Deficiency 62
181 CRN017 Coronary Thrombosis 47
182 PRT014 Protein S Deficiency 46
183 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 40
184 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 36
185 QLT001 Qualitative Platelet Defect 33
186 HMG010 Hemoglobinemia 30
187 LTR002 Lateral Sinus Thrombosis 27
188 HMT001 Hematocele of Tunica Vaginalis Testis 25
189 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 25
190 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 24
191 SYS059 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 18
192 THR043 Thrombomodulin Anomalies, Familial 6
193 P MNP015 Mean Platelet Volume Quantitative Trait Locus 2 6
194 THR121 Thrombocythemia with Distal Limb Defects 6
195 BDD001 Budd-Chiari Syndrome 59
196 HMT018 Hematopoietic Stem Cell Transplantation 59
197 P HML001 Hemolytic-Uremic Syndrome 55
198 c HRM017 Hermansky-Pudlak Syndrome 2 51
199 PST095 Post-Thrombotic Syndrome 51
200 HMG002 Hemoglobinuria 51
201 LMR001 Lemierre's Syndrome 49
202 EVN001 Evans' Syndrome 47
203 ASP030 Aspirin Resistance 47
204 TNP004 Tn Polyagglutination Syndrome 36
205 RFR004 Refractory Hematologic Cancer 32
206 c HRM020 Hermansky-Pudlak Syndrome 10 30
207 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 23
208 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 21
209 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
210 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 13
211 HMG031 Hemoglobin, High Altitude Adaptation 12
212 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
213 P HRM001 Hermansky-Pudlak Syndrome 63
214 c AFB002 Afibrinogenemia, Congenital 60
215 CMR002 Coumarin Resistance 52
216 FCT006 Factor V Deficiency 49
217 BLD164 Blood Group, Gerbich System 31
218 STC016 Sticky Platelet Syndrome 29
219 RDN004 Radin Blood Group Antigen 28
220 BLD161 Blood Group, Globoside System 28
221 BLD163 Blood Group, Dombrock System 27
222 BLD151 Blood Group--Wright Antigen 26
223 BLD148 Blood Group, Langereis System 24
224 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23
225 BLD144 Blood Group System, Landsteiner-Wiener 21
226 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 20
227 THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 19
228 DSS009 Disseminated Intravascular Coagulation 58
229 P THR015 Thrombophilia 56
230 c ANM036 Anemia, Sideroblastic, 1 54
231 SBL008 Sea-Blue Histiocyte Disease 48
232 JCB001 Jacobsen Syndrome 48
233 P DYS026 Dysfibrinogenemia 47
234 THR035 Thrombasthenia 46
235 CTS005 Catastrophic Antiphospholipid Syndrome 45
236 P SDR003 Sideroblastic Anemia 43
237 PLT015 Platelet Aggregation, Spontaneous 42
238 c INH004 Inherited Blood Coagulation Disease 42
239 c ACQ005 Acquired Thrombocytopenia 41
240 SMH001 Sm-Ahnmd 31
241 c ATS210 Autosomal Recessive Sideroblastic Anemia 30
242 HMM001 Hemometra 29
243 IVC001 Ivic Syndrome 28
244 c HMG004 Hemoglobin D Disease 27
245 INT076 Intracranial Sinus Thrombosis 27
246 c ANM034 Anemia, Sideroblastic, 4 23
247 PLS032 Plasmodium Falciparum Blood Infection Level 20
248 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 17
249 c ANK019 Ankrd26-Related Thrombocytopenia 17
250 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 14
251 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 14
252 HMT019 Hematohidrosis 13
253 ACQ051 Acquired Prothrombin Deficiency 13
254 PRM285 Primitive Portal Vein Thrombosis 12
255 THR098 Thrombocythemia, X-Linked 10
256 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 10
257 FCT024 Factor V Excess with Spontaneous Thrombosis 9
258 ILC001 Iliac Vein Thrombophlebitis 9
259 BLD143 Blood Group--Lke 9
260 KTZ001 Kotzot-Richter Syndrome 8
261 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 7
262 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 7
263 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 6
264 MDC003 Medich Giant Platelet Syndrome 6
265 c MNP019 Mean Platelet Volume Quantitative Trait Locus 4 6
266 c MNP014 Mean Platelet Volume Quantitative Trait Locus 1 6
267 c MNP016 Mean Platelet Volume Quantitative Trait Locus 3 6
268 c MNP020 Mean Platelet Volume Quantitative Trait Locus 5 6
269 c MNP021 Mean Platelet Volume Quantitative Trait Locus 6 6
270 CYT021 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 6
271 c SCK008 Sickle Delta Beta Thalassemia 6
272 HMG024 Hemoglobinopathy Toms River 6
273 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 6
274 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
275 THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2
276 c HMP029 Hemophilia a 70
277 HYP014 Hyperuricemia 55
278 c HRM005 Hermansky-Pudlak Syndrome 1 54
279 c HRM008 Hermansky-Pudlak Syndrome 5 52
280 CHR635 Chromosome 5q Deletion Syndrome 52
281 c ACQ017 Acquired Von Willebrand Syndrome 45
282 c HRM007 Hermansky-Pudlak Syndrome 4 38
283 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 34
284 HMG009 Hemoglobin Zurich 22
285 GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 15
286 RHN014 Rh-Null, Amorph Type 14
287 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 14
288 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 14
289 MLR004 Malaria 84
290 P MYC007 Myocardial Infarction 78
291 MLD001 Melioidosis 72
292 c DNG003 Dengue Disease 67
293 P DNG005 Dengue Virus 62
294 P NTR004 Neutropenia 60
295 PRP001 Propionic Acidemia 60
296 P HRD011 Hereditary Spherocytosis 58
297 c ACT075 Acute Myocardial Infarction 57
298 IRN001 Iron Deficiency Anemia 55
299 PNC001 Pancytopenia 53
300 ARG007 Argininemia 53
301 LKC003 Leukocyte Disease 52
302 P PRR002 Pure Red-Cell Aplasia 52
303 c HRM006 Hermansky-Pudlak Syndrome 3 51
304 P HMC002 Homocystinuria 51
305 VTM033 Vitamin K Deficiency Bleeding 47
306 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 46
307 c HRM009 Hermansky-Pudlak Syndrome 6 44
308 P CNG003 Congenital Dyserythropoietic Anemia 42
309 P HRD012 Hereditary Elliptocytosis 40
310 PLS030 Plasminogen Deficiency, Type I 40
311 MRN001 Marantic Endocarditis 40
312 c HRM011 Hermansky-Pudlak Syndrome 8 39
313 P HYP769 Hyperlysinemia, Type I 39
314 c SPH016 Spherocytosis, Type 4 39
315 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
316 c SPH015 Spherocytosis, Type 3 38
317 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
318 c HRM012 Hermansky-Pudlak Syndrome 9 37
319 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 37
320 c SPH017 Spherocytosis, Type 5 35
321 c HRM010 Hermansky-Pudlak Syndrome 7 35
322 ATM012 Autoimmune Disease of Blood 32
323 c HRD146 Hereditary Methemoglobinemia 32
324 c MYC058 Myocardial Infarction 2 31
325 c ELL005 Elliptocytosis 2 30
326 c ACQ047 Acquired Methemoglobinemia 28
327 c PST001 Posterior Myocardial Infarction 28
328 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 28
329 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
330 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 26
331 BLD153 Blood Group--Swann System 25
332 c ELL006 Elliptocytosis 3 24
333 c NTR045 Neutropenia, Chronic Familial 20
334 THR007 Thrombophlebitis Migrans 16
335 SPN433 Spondyloepiphyseal Dysplasia, Kondo-Fu Type 14
336 c MTH083 Methemoglobinemia, Beta Type 13
337 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
338 ACH007 Achenbach Syndrome 9
339 c MTH084 Methemoglobinemia, Alpha Type 9
340 c EPB003 Epb42-Related Hereditary Spherocytosis 7
341 c ELN001 Elane-Related Neutropenia 6
342 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
343 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
344 P CRN018 Coronary Artery Anomaly 75
345 P TTR001 Tetralogy of Fallot 70
346 P DMN001 Diamond-Blackfan Anemia 70
347 ANG054 Angina Pectoris 69
348 ISC004 Ischemia 67
349 P DBT009 Diabetes Mellitus 67
350 P HML002 Hemolytic Anemia 64
351 HYP056 Hypoglycemia 64
352 P PRT008 Proteus Syndrome 64
353 P SHW006 Shwachman-Diamond Syndrome 1 63
354 GST033 Gestational Diabetes 63
355 c PRC016 Pre-Eclampsia 61
356 P END033 Endocarditis 60
357 P PLY018 Polycythemia 60
358 P ECL001 Eclampsia 58
359 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58
360 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
361 CRT016 Carotid Artery Disease 58
362 c VNW010 Von Willebrand Disease, Type 2 57
363 c PRM012 Primary Polycythemia 56
364 c SVR005 Severe Pre-Eclampsia 55
365 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 55
366 P LDD007 Liddle Syndrome 1 55
367 P VNS003 Venous Insufficiency 54
368 MNC006 Monoclonal Gammopathy of Uncertain Significance 53
369 c DMN023 Diamond-Blackfan Anemia 1 53
370 HMC014 Homocysteinemia 53
371 FCT005 Factor Xiii Deficiency 53
372 c CNG027 Congenital Hemolytic Anemia 53
373 CLC001 Calciphylaxis 52
374 RYN005 Raynaud Phenomenon 52
375 c ACQ014 Acquired Hemophilia 51
376 BBS001 Babesiosis 51
377 FCT004 Factor Xii Deficiency 50
378 c CHR431 Chronic Venous Insufficiency 50
379 c VNW005 Von Willebrand Disease, Type 1 48
380 HPT025 Hepatic Lipase Deficiency 46
381 ISC015 Ischemic Colitis 46
382 P PRP034 Purpura Fulminans 45
383 c ACQ042 Acquired Hemophilia a 43
384 HYP003 Hypermethioninemia 40
385 c PRM225 Primary Thrombocytopenia 39
386 c ACQ010 Acquired Polycythemia 39
387 CRT004 Carotid Artery Thrombosis 38
388 c SBC003 Subacute Bacterial Endocarditis 36
389 CRB132 Cerebral Sinovenous Thrombosis 36
390 OVL001 Ovalocytosis, Southeast Asian 35
391 PLT031 Platelet Membrane Fluidity 34
392 PRK005 Prekallikrein Deficiency 31
393 c CNG223 Congenital Methemoglobinemia 30
394 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 30
395 c TYP035 Type 1 Diabetes Mellitus 11 29
396 P ATS208 Autosomal Dominant Macrothrombocytopenia 28
397 c TYP037 Type 1 Diabetes Mellitus 13 28
398 CRN270 Coronary Artery Dissection, Spontaneous 28
399 c TYP033 Type 1 Diabetes Mellitus 7 27
400 BLD052 Blood Group Incompatibility 26
401 c TYP028 Type 1 Diabetes Mellitus 2 26
402 c TYP031 Type 1 Diabetes Mellitus 5 26
403 MYH015 Myh-9 Related Disease 25
404 c TYP032 Type 1 Diabetes Mellitus 6 25
405 c TYP036 Type 1 Diabetes Mellitus 12 24
406 c DMN040 Diamond-Blackfan Anemia 16 24
407 BLD137 Blood Group--Ahonen 24
408 c TYP027 Type 1 Diabetes Mellitus 10 24
409 c TYP038 Type 1 Diabetes Mellitus 15 23
410 DHY015 Dehydrated Hereditary Stomatocytosis 2 23
411 c SHW007 Shwachman-Diamond Syndrome 2 23
412 c PRT063 Proteus-Like Syndrome 23
413 FRS010 Forsythe-Wakeling Syndrome 22
414 c TYP039 Type 1 Diabetes Mellitus 17 21
415 c ATS209 Autosomal Dominant Secondary Polycythemia 20
416 c CRN304 Coronary Artery Disease, Autosomal Dominant 2 20
417 c DMN039 Diamond-Blackfan Anemia 17 20
418 TFR002 Tafro Syndrome 20
419 c DMN030 Diamond-Blackfan Anemia 13 19
420 P BLD150 Blood Group--Ul System 19
421 c TYP040 Type 1 Diabetes Mellitus 18 18
422 VNS012 Venous Thoracic Outlet Syndrome 18
423 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 18
424 c DMN047 Diamond-Blackfan Anemia 18 18
425 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
426 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 17
427 c LDD008 Liddle Syndrome 2 17
428 c TYP029 Type 1 Diabetes Mellitus 3 17
429 c TYP030 Type 1 Diabetes Mellitus 4 16
430 c DMN045 Diamond-Blackfan Anemia-Like 16
431 c LDD009 Liddle Syndrome 3 16
432 c DMN048 Diamond-Blackfan Anemia 19 16
433 PLT016 Platelet Adenylate Cyclase Activity 15
434 c DMN049 Diamond-Blackfan Anemia 20 15
435 MTH081 Mthfr Gene Variant 15
436 c TYP034 Type 1 Diabetes Mellitus 8 15
437 P STM009 Stomatocytosis I 14
438 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 14
439 WHT020 White Blood Cell Count Quantitative Trait Locus 1 13
440 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13
441 PLT028 Platelet Factor 3 Deficiency 12
442 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 11
443 c ACQ039 Acquired Purpura Fulminans 11
444 P PLT029 Platelet Groups--Ko System 11
445 THR115 Thrombocyte B 10
446 FYP001 Faye-Petersen-Ward-Carey Syndrome 10
447 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
448 EHL040 Ehlers-Danlos Syndrome, Fibronectinemic Type 10
449 PLT027 Platelet Disorder, Undefined 9
450 PLT034 Platelet Prostacyclin Receptor Defect 9
451 PLS033 Plasma Clot Retraction Factor, Deficiency of 9
452 BLD145 Blood Group--Newfoundland 9
453 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
454 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
455 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
456 PLT033 Platelet Signal Processing Defect 8
457 ATH014 Athrombia, Essential 8
458 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 7
459 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
460 YTB001 Yt Blood Group Antigen 7
461 TRN013 Transient Neonatal Thrombocytopenia 7
462 HMG030 Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain 6
463 THL019 Thalassemia, Beta+, Silent Allele 6
464 c PLY005 Polycythemia Due to Hypoxia 6
465 UNS001 Unstable Hemoglobin Disease 6
466 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
467 HML017 Hemolytic Uremic Syndrome, Atypical, Childhood 5
468 BLD147 Blood Group--Private Systems 4
469 HMT020 Hematopoietic Stem Cell Kinetics, Control of 4
470 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4
471 BLD139 Blood Group--En 3
472 BLD135 Blood Group--Abo Suppressor 3
473 TSY001 Tau Syndrome 3
474 BLD136 Blood Group--Abh Antigen, Type 2 3
475 c PLT030 Platelet Groups--Pl System 3
476 SCK036 Sickle Cell Disease Associated with an Other Hemoglobin Anomaly 3
477 c STM013 Stomatocytosis Ii 3
478 MYL069 Myeloma, Multiple 85
479 P ATX030 Ataxia-Telangiectasia 82
480 c LKM061 Leukemia, Acute Myeloid 81
481 P FNC027 Fanconi Anemia, Complementation Group a 81
482 KPS004 Kaposi Sarcoma 77
483 PLY001 Polycythemia Vera 75
484 APL001 Aplastic Anemia 74
485 c LKM063 Leukemia, Chronic Myeloid 73
486 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 72
487 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
488 P AGM001 Agammaglobulinemia 71
489 ART016 Aortic Aneurysm 71
490 CRB039 Cerebrovascular Disease 70
491 MYL009 Myelodysplastic Syndrome 70
492 CNG034 Congestive Heart Failure 70
493 MYL005 Myelofibrosis 69
494 BRK010 Burkitt Lymphoma 69
495 P WLD002 Waldenstrom Macroglobulinemia 69
496 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 69
497 P LKM062 Leukemia, Acute Lymphoblastic 68
498 P HYP098 Hypereosinophilic Syndrome 67
499 P DYS007 Dyskeratosis Congenita 67
500 P PRD008 Periodontitis 66
501 TKY002 Takayasu Arteritis 66
502 P GCH001 Gaucher's Disease 66
503 c CHR417 Chronic Graft Versus Host Disease 66
504 c GLY008 Glycogen Storage Disease Ii 66
505 DNG002 Dengue Hemorrhagic Fever 66
506 c GCH015 Gaucher Disease, Type I 65
507 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
508 c MCL062 Mucolipidosis Ii Alpha/beta 64
509 HYP066 Hyperglycemia 64
510 P AMY004 Amyloidosis 64
511 c CNG411 Congenital Disorder of Glycosylation, Type in 64
512 c ART101 Aortic Valve Disease 2 63
513 c ACT074 Acute Lymphocytic Leukemia 63
514 PMS001 Poems Syndrome 62
515 c ADL017 Adult T-Cell Leukemia 62
516 LSC001 Lesch-Nyhan Syndrome 62
517 c SYS004 Systemic Mastocytosis 62
518 GT001 Gout 62
519 PLS011 Plasmacytoma 62
520 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
521 P GLY013 Glycogen Storage Disease 61
522 P CRN300 Coronary Heart Disease 1 61
523 HNC001 Henoch-Schoenlein Purpura 61
524 c GCH016 Gaucher Disease, Type Ii 61
525 P GLM007 Glomerulonephritis 61
526 HYP810 Hypereosinophilic Syndrome, Idiopathic 61
527 P HMN010 Hemangioma 61
528 P MST009 Mastocytosis 61
529 CHK001 Chikungunya 61
530 P HST010 Histiocytosis 60
531 ATH013 Atherosclerosis Susceptibility 60
532 P MLG056 Malignant Hyperthermia 60
533 P ERY058 Erythrocytosis, Familial, 1 60
534 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
535 PRP030 Purpura 60
536 c PRD040 Periodontitis, Chronic 59
537 NTH001 Netherton Syndrome 59
538 PTN001 Patent Foramen Ovale 59
539 P HMR003 Hemorrhagic Disease 59
540 ANG020 Angiosarcoma 59
541 c FNC042 Fanconi Anemia, Complementation Group D2 58
542 c MCL013 Mucolipidosis Iv 58
543 HRT012 Heart Valve Disease 58
544 P CTS001 Cutis Laxa 58
545 c GCH017 Gaucher Disease, Type Iii 58
546 c ACT135 Acute Graft Versus Host Disease 58
547 P ACT105 Acute Mountain Sickness 57
548 CTR172 Citrullinemia, Classic 57
549 PRP082 Porphyria, Congenital Erythropoietic 57
550 HLL004 Hellp Syndrome 57
551 INF034 Infective Endocarditis 56
552 FCT001 Factor Viii Deficiency 56
553 c PSD108 Pseudohypoparathyroidism, Type Ia 56
554 FCT003 Factor X Deficiency 56
555 c MCL046 Mucolipidosis Iii Alpha/beta 56
556 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
557 P HYP050 Hyperinsulinemic Hypoglycemia 55
558 HYP005 Hypokalemia 55
559 c AMY009 Amyloidosis Aa 55
560 P FNC044 Fanconi Anemia, Complementation Group C 54
561 FLT011 Felty Syndrome 54
562 c PSD066 Pseudohypoparathyroidism, Type Ib 53
563 RTN003 Retinal Ischemia 53
564 c OST163 Osteopetrosis, Autosomal Recessive 3 52
565 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 52
566 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
567 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
568 ESN015 Eosinophilic Fasciitis 52
569 P PSD015 Pseudohypoparathyroidism 51
570 GRN017 Granulocytopenia 51
571 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
572 BRT005 Barth Syndrome 51
573 PRD004 Prediabetes Syndrome 51
574 EXT010 Extramedullary Plasmacytoma 51
575 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 51
576 c ACR116 Aicardi-Goutieres Syndrome 1 50
577 HNN001 Hennekam Syndrome 50
578 CNG028 Congenital Hypoplastic Anemia 50
579 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
580 P RTN014 Retinal Artery Occlusion 50
581 ESN002 Eosinophilia-Myalgia Syndrome 50
582 P AFB001 Afibrinogenemia 50
583 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
584 c MLG069 Malignant Hypertension 50
585 HYP006 Hypertensive Heart Disease 49
586 HYP081 Hypolipoproteinemia 49
587 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
588 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
589 ZKF001 Zika Fever 49
590 P ART018 Aortic Valve Insufficiency 49
591 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
592 HYP088 Hyper-Igd Syndrome 49
593 MCR225 Macrophage Activation Syndrome 49
594 CTS011 Cutis Marmorata Telangiectatica Congenita 49
595 ORT008 Orotic Aciduria 49
596 c GRS014 Griscelli Syndrome, Type 2 48
597 RVS001 Revesz Syndrome 48
598 VTM002 Vitamin B12 Deficiency 48
599 c FNC032 Fanconi Anemia, Complementation Group B 48
600 MYD002 Myd88 Deficiency 48
601 PLM035 Pulmonary Eosinophilia 47
602 c CHR546 Chronic Mountain Sickness 47
603 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 47
604 P MTH007 Methemoglobinemia 47
605 TRN022 Transcobalamin Ii Deficiency 47
606 c FNC028 Fanconi Anemia, Complementation Group L 46
607 MCR017 Macrocytic Anemia 46
608 c SPH013 Spherocytosis, Type 1 46
609 P PSD003 Pseudohypoaldosteronism 46
610 P MCL001 Mucolipidosis 45
611 PRS127 Pearson Marrow-Pancreas Syndrome 45
612 c FNC029 Fanconi Anemia, Complementation Group I 45
613 c FNC045 Fanconi Anemia, Complementation Group F 45
614 LPP002 Lipoprotein Glomerulopathy 45
615 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
616 HMP001 Hemopericardium 45
617 c FNC057 Fanconi Anemia, Complementation Group U 44
618 NTR018 Neutrophilia, Hereditary 44
619 MYL013 Myeloperoxidase Deficiency 44
620 P ANL018 Analbuminemia 44
621 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
622 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 43
623 ANM001 Anemia of Prematurity 43
624 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
625 NNK001 Nonaka Myopathy 43
626 c FNC025 Fanconi Anemia, Complementation Group J 43
627 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
628 PKL001 Poikiloderma with Neutropenia 43
629 SPT002 Septicemic Plague 42
630 IND002 Indolent Systemic Mastocytosis 42
631 c MCL016 Mucolipidosis Iii Gamma 42
632 c FNC023 Fanconi Anemia, Complementation Group N 42
633 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
634 MCR018 Microcytic Anemia 42
635 c SPH014 Spherocytosis, Type 2 42
636 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
637 TRC021 Tricuspid Valve Stenosis 42
638 P PST059 Pustular Psoriasis 42
639 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 42
640 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
641 c CNT028 Central Retinal Artery Occlusion 41
642 LCH001 Leech Infestation 41
643 BLR027 Blue Rubber Bleb Nevus 41
644 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
645 c GLY023 Glycogen Storage Disease Type 0 41
646 TRS021 Triosephosphate Isomerase Deficiency 41
647 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
648 c MLG147 Malignant Hyperthermia 1 41
649 c GLY098 Glycogen Storage Disease, Type Ixd 41
650 HYP801 Hyperferritinemia with or Without Cataract 41
651 c PRC031 Preeclampsia/eclampsia 1 41
652 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
653 ESN017 Eosinophilic Granuloma 40
654 c PSD117 Pseudohypoparathyroidism, Type Ic 40
655 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 40
656 HYP236 Hyperbilirubinemia, Rotor Type 40
657 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 39
658 LKS001 Leukostasis 39
659 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 39
660 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
661 OVR093 Overhydrated Hereditary Stomatocytosis 39
662 RFR010 Refractory Anemia 38
663 LTT002 Letterer-Siwe Disease 38
664 c TRN009 Transient Hypogammaglobulinemia of Infancy 38
665 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
666 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 38
667 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 38
668 BLT003 Blue Toe Syndrome 38
669 HMP018 Hemophilic Arthropathy 38
670 HNZ004 Heinz Body Anemias 38
671 PHS009 Phosphoglycerate Kinase Deficiency 38
672 P TRN016 Transient Hypogammaglobulinemia 38
673 c FNC048 Fanconi Anemia, Complementation Group O 38
674 c FNC062 Fanconi Anemia, Complementation Group S 38
675 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
676 HYP223 Hypoplastic Right Heart Syndrome 37
677 P HVY001 Heavy Chain Disease 37
678 c OST126 Osteopetrosis, Autosomal Recessive 1 37
679 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
680 c MNS014 Monosomy 22 37
681 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
682 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
683 c PSD106 Pseudo-Torch Syndrome 1 37
684 GLY032 Glycosylphosphatidylinositol Deficiency 37
685 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
686 AGM004 Agammaglobulinemia, Non-Bruton Type 37
687 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 37
688 c INF092 Inflammatory Bowel Disease 9 37
689 SHW001 Shwartzman Phenomenon 37
690 INT020 Intravenous Leiomyomatosis 37
691 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
692 FNC030 Fanconi Anemia, Complementation Group G 37
693 c PRM149 Primary Hypereosinophilic Syndrome 37
694 c GLY016 Glycogen Storage Disease Ib 37
695 CRY019 Cryohydrocytosis 36
696 PLT001 Plethora of Newborn 36
697 MYL002 Myelophthisic Anemia 36
698 NCT003 N-Acetylglutamate Synthase Deficiency 36
699 c CNG379 Congenital Disorder of Glycosylation, Type It 36
700 c ATM045 Autoimmune Glomerulonephritis 36
701 HYP001 Hypochromic Microcytic Anemia 36
702 OMS001 Omsk Hemorrhagic Fever 36
703 PYR040 Pyropoikilocytosis, Hereditary 36
704 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
705 c FNC047 Fanconi Anemia, Complementation Group Q 35
706 c INF087 Inflammatory Bowel Disease 4 35
707 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
708 TKN001 Takenouchi-Kosaki Syndrome 35
709 c FNC058 Fanconi Anemia, Complementation Group R 35
710 LCN001 Lice Infestation 35
711 PRC051 Paracetamol Poisoning 35
712 c TRC078 Trichohepatoenteric Syndrome 2 35
713 P HYP111 Hyperprolinemia 35
714 CNG017 Congenital Nonspherocytic Hemolytic Anemia 34
715 c FNC052 Fanconi Anemia, Complementation Group T 34
716 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
717 CMP040 Complement Component 4, Partial Deficiency of 34
718 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
719 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
720 FLT009 Folate Malabsorption, Hereditary 34
721 c PSD104 Pseudohypoparathyroidism, Type Ii 34
722 NNT011 Neonatal Anemia 34
723 GNT005 Giant Hemangioma 34
724 NNS003 Non-Secretory Myeloma 34
725 KLL014 Kelley-Seegmiller Syndrome 34
726 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
727 c GLY057 Glycogen Storage Disease X 33
728 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 33
729 c FNC056 Fanconi Anemia, Complementation Group V 33
730 FSR001 Fusariosis 33
731 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 33
732 c DMN021 Diamond-Blackfan Anemia 6 33
733 c CNG020 Congenital Hypogammaglobulinemia 33
734 CHL070 Cholesterol Embolism 33
735 FLL042 Folliculotropic Mycosis Fungoides 33
736 PHS014 Phosphoglycerate Kinase 1 Deficiency 33
737 SML011 Smoldering Myeloma 33
738 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
739 MYL074 Myelodysplastic Syndrome with Excess Blasts 32
740 RTN072 Retinohepatoendocrinologic Syndrome 32
741 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
742 FLC001 Folic Acid Deficiency Anemia 32
743 c GCH013 Gaucher Disease, Type Iiic 32
744 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
745 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
746 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
747 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 31
748 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
749 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
750 c CNG188 Congenital Disorder of Glycosylation, Type if 31
751 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
752 c PSD090 Pseudohypoaldosteronism, Type Iia 31
753 c ACQ027 Acquired Cutis Laxa 31
754 c ACR081 Aicardi-Goutieres Syndrome 6 31
755 c INF086 Inflammatory Bowel Disease 3 31
756 PRP038 Properdin Deficiency, X-Linked 31
757 c INF089 Inflammatory Bowel Disease 6 30
758 RHS001 Rh Isoimmunization 30
759 PLM049 Plummer Vinson Syndrome 30
760 ACD001 Acidophil Adenoma 30
761 HDG004 Hodgkin's Granuloma 30
762 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
763 CYN002 Cyanosis, Transient Neonatal 30
764 CRT005 Cortical Thymoma 30
765 BMB001 Bombay Phenotype 30
766 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
767 c GLY017 Glycogen Storage Disease Ic 30
768 c OST120 Osteopetrosis, Autosomal Recessive 5 30
769 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
770 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
771 ANH003 Anhaptoglobinemia 29
772 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
773 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 29
774 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
775 c HYP248 Hyperprolinemia, Type I 29
776 GLT005 Glutamate Formiminotransferase Deficiency 29
777 PLM007 Pulmonary Aspergilloma 29
778 c INF088 Inflammatory Bowel Disease 5 28
779 c GLY043 Glycogen Storage Disease Xii 28
780 HGH020 High Molecular Weight Kininogen Deficiency 28
781 NTR011 Neutrophil-Specific Granule Deficiency 28
782 c ELL010 Elliptocytosis 1 28
783 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
784 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
785 c DMN017 Diamond-Blackfan Anemia 10 28
786 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 28
787 c MLG144 Malignant Hemangioma 28
788 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
789 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
790 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
791 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
792 c NPH102 Nephrotic Syndrome, Type 14 27
793 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
794 c INF075 Inflammatory Bowel Disease 16 26
795 c PSD107 Pseudo-Torch Syndrome 2 26
796 HMP028 Hemophagocytic Syndrome Associated with an Infection 26
797 RFR007 Refractory Anemia with Excess Blasts in Transformation 26
798 c DMN022 Diamond-Blackfan Anemia 9 26
799 HYP648 Hypertension and Brachydactyly Syndrome 26
800 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 26
801 c PSD093 Pseudohypoaldosteronism, Type Iid 25
802 DND003 Dendritic Cell Thymoma 25
803 c DMN019 Diamond-Blackfan Anemia 4 25
804 c CRN174 Coronary Heart Disease 2 25
805 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
806 c INF078 Inflammatory Bowel Disease 2 25
807 LFF002 Loeffler Syndrome 25
808 HSH001 Hashimoto-Pritzker Syndrome 25
809 P PLM064 Pulmonary Sequestration 25
810 CMP041 Complement Factor D Deficiency 24
811 NTR036 Neutropenia, Severe Congenital, X-Linked 24
812 HMC016 Homocystinuria Due to Cbs Deficiency 24
813 IND003 Indolent Myeloma 24
814 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
815 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
816 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
817 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
818 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 24
819 c DMN024 Diamond-Blackfan Anemia 7 24
820 FCT032 Factor Xiii, a Subunit, Deficiency of 24
821 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
822 c ACQ016 Acquired Pure Red Cell Aplasia 24
823 TMP008 Tempi Syndrome 23
824 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 23
825 c GLY001 Glycogen Storage Disease Ix 23
826 c HYP597 Hyperprolinemia, Type Ii 23
827 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 23
828 c FNC061 Fanconi Anemia, Complementation Group W 23
829 c CRN214 Coronary Heart Disease 5 23
830 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 23
831 c MNS008 Monosomy 21 23
832 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 23
833 c DMN006 Diamond-Blackfan Anemia 3 23
834 c DMN020 Diamond-Blackfan Anemia 8 23
835 c DMN005 Diamond-Blackfan Anemia 2 22
836 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
837 c DMN018 Diamond-Blackfan Anemia 5 22
838 HDG006 Hodgkin's Paragranuloma 22
839 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 22
840 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
841 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 22
842 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 22
843 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 22
844 BRR004 Baroreflex Failure 22
845 c MLG151 Malignant Hyperthermia 5 22
846 c DMN029 Diamond-Blackfan Anemia 11 22
847 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 22
848 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 22
849 P TRC034 Torch Syndrome 22
850 P SLF001 Sulfhemoglobinemia 22
851 c MLG148 Malignant Hyperthermia 2 22
852 c ATP003 Atp6v0a2-Related Cutis Laxa 22
853 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 22
854 c INF072 Inflammatory Bowel Disease 11 21
855 P MNS011 Monosomy 9q22.3 21
856 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 21
857 c MLG149 Malignant Hyperthermia 3 21
858 RFM002 Roifman-Chitayat Syndrome 21
859 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 21
860 c INF162 Inflammatory Bowel Disease 25 21
861 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 21
862 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 21
863 c SBC010 Subacute Glomerulonephritis 21
864 c PSD094 Pseudohypoaldosteronism, Type Iib 21
865 c MLG150 Malignant Hyperthermia 4 21
866 c INF090 Inflammatory Bowel Disease 7 21
867 FCT033 Factor Xiii, B Subunit, Deficiency of 20
868 ACT176 Acute Panmyelosis with Myelofibrosis 20
869 FBR023 Fibrinogen Deficiency, Congenital 20
870 EPS038 Episodic Angioedema with Eosinophilia 20
871 HMC036 Homocystinuria Without Methylmalonic Aciduria 20
872 c DMN028 Diamond-Blackfan Anemia 12 20
873 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 20
874 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 20
875 ATM069 Autoimmune Hemolytic Anemia, Warm Type 20
876 c PRM150 Primary Localized Amyloidosis 20
877 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 19
878 HVY003 Heavy Chain Deposition Disease 19
879 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 19
880 c ACQ004 Acquired Hemangioma 19
881 c PSD068 Pseudohypoaldosteronism, Type Iic 19
882 HHV001 Hhv-6 Encephalitis 19
883 P PRC045 Preeclampsia/eclampsia 5 19
884 c GLY093 Glycogen Storage Disease Ixa 19
885 c TRN053 Transient Pseudohypoaldosteronism 19
886 DSS003 Disseminated Eosinophilic Collagen Disease 19
887 c INF079 Inflammatory Bowel Disease 20 19
888 PRT025 Protein-Deficiency Anemia 19
889 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
890 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 18
891 CTR107 Cataract 13 with Adult I Phenotype 18
892 c PSR022 Psoriasis 15, Pustular 18
893 c EFM001 Efemp2-Related Cutis Laxa 18
894 c PRC034 Preeclampsia/eclampsia 4 18
895 c CNG336 Congenital Analbuminemia 17
896 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
897 TLN012 Telangiectasia Macularis Eruptiva Perstans 17
898 ARG006 Aregenerative Anemia 17
899 c LTB003 Ltbp4-Related Cutis Laxa 17
900 c MLG152 Malignant Hyperthermia 6 17
901 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 17
902 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 17
903 LFR008 L-Ferritin Deficiency 17
904 CGL001 Coagulation Protein Disease 17
905 c CNG121 Congenital Pulmonary Alveolar Proteinosis 17
906 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 17
907 c SCN051 Secondary Pulmonary Alveolar Proteinosis 16
908 c AHM002 Ah Amyloidosis 16
909 c PTN012 Patent Ductus Arteriosus 3 16
910 MNC020 Monoclonal Mast Cell Activation Syndrome 16
911 c PTN013 Patent Ductus Arteriosus 2 16
912 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 16
913 HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 16
914 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 16
915 c INF073 Inflammatory Bowel Disease 12 16
916 c INF080 Inflammatory Bowel Disease 21 15
917 ISL085 Isolated Agammaglobulinemia 15
918 HYP018 Hyperglobulinemic Purpura 15
919 HYP765 Hyperbilirubinemia, Shunt, Primary 15
920 NNT054 Neonatal Alloimmune Neutropenia 15
921 c INF091 Inflammatory Bowel Disease 8 15
922 c INF161 Inflammatory Bowel Disease 28 14
923 TRN017 Transient Neonatal Neutropenia 14
924 c CRN178 Coronary Heart Disease 6 14
925 LGH014 Light and Heavy Chain Deposition Disease 14
926 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
927 c INF076 Inflammatory Bowel Disease 18 14
928 STR007 Stress Polycythemia 14
929 c PSD023 Pseudo-Gaucher Disease 14
930 ISL033 Isolated Delta-Storage Pool Disease 14
931 c INF083 Inflammatory Bowel Disease 24 13
932 c INF084 Inflammatory Bowel Disease 26 13
933 c INF082 Inflammatory Bowel Disease 23 13
934 c INF085 Inflammatory Bowel Disease 27 13
935 c INF074 Inflammatory Bowel Disease 15 13
936 c INF081 Inflammatory Bowel Disease 22 13
937 P RFR014 Refractory Anemia with Excess Blasts Type 2 13
938 c CRN177 Coronary Heart Disease 7 13
939 LCL017 Localized Pagetoid Reticulosis 13
940 BLL014 Bullous Diffuse Cutaneous Mastocytosis 12
941 c MCR162 Macroglobulinemia, Waldenstrom 2 12
942 BLD072 Bleeding Disorder, East Texas Type 11
943 LTH044 Lutheran Null 11
944 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 11
945 c SCN042 Secondary Hypereosinophilic Syndrome 11
946 c CNG257 Congenital Pulmonary Sequestration 10
947 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 10
948 c CRN175 Coronary Heart Disease 4 10
949 c CRN173 Coronary Heart Disease 8 10
950 c MYL070 Myeloproliferative Disease, Autosomal Recessive 10
951 c PRC033 Preeclampsia/eclampsia 3 10
952 c PRC032 Preeclampsia/eclampsia 2 10
953 CVR003 Cavernous Hemangioma of Face 10
954 c CNG346 Congenital Aortic Valve Insufficiency 10
955 SML030 Smouldering Systemic Mastocytosis 9
956 c CRN176 Coronary Heart Disease 9 9
957 c CRN172 Coronary Heart Disease 3 9
958 c FBL003 Fbln5-Related Cutis Laxa 9
959 DCN001 Dic in Newborn 9
960 SMP006 Simple Cryoglobulinemia 8
961 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 8
962 NDL018 Nodular Urticaria Pigmentosa 8
963 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
964 c SLF013 Sulfhemoglobinemia, Congenital 8
965 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 8
966 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 7
967 PDT039 Pediatric Castleman Disease 7
968 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 7
969 CHR058 Chronic Congestive Splenomegaly 7
970 CVR005 Cavernous Hemangioma of Orbit 7
971 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 7
972 c RFR015 Refractory Anemia with Excess Blasts Type 1 6
973 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
974 SLT002 Solitary Plasmacytoma of Chest Wall 6
975 c SSC054 Susceptibility to Localized Juvenile Periodontitis 6
976 PLY128 Polyclonal Hyperviscosity Syndrome 6
977 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 6
978 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 6
979 TYP022 Typical Urticaria Pigmentosa 6
980 PLQ001 Plaque-Form Urticaria Pigmentosa 6
981 CHR062 Chronic Erythremia 5
982 EXT049 Extramedullary Soft Tissue Plasmacytoma 5
983 UNC008 Unclassified Myelodysplastic Syndrome 5
984 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 5
985 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 4
986 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 4
987 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 4
988 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 4
989 PRT104 Protein S Acquired Deficiency 4
990 PHY001 Physiological Polycythemia 4
991 ANT036 Anti-Hla Hyperimmunization 3
992 DHY001 Dehydration Polycythemia 3
993 c DFN141 Deafness, Autosomal Recessive 12 44
994 c DFN107 Deafness, Autosomal Dominant 10 44
995 c DFN200 Deafness, Autosomal Dominant 17 43
996 c DFN097 Deafness, Autosomal Recessive 1a 43
997 c DFN250 Deafness, Autosomal Recessive 2 42
998 c DFN354 Deafness, Autosomal Dominant 20 42
999 c NNS007 Nonsyndromic Deafness 42
1000 c DFN203 Deafness, Autosomal Recessive 30 41
1001 c DFN202 Deafness, Autosomal Dominant 48 41
1002 c DFN196 Deafness, Autosomal Dominant 22 41
1003 c DFN117 Deafness, Autosomal Dominant 15 41
1004 c DFN351 Deafness, Autosomal Dominant 6 41
1005 c DFN251 Deafness, Autosomal Dominant 11 40
1006 c DFN197 Deafness, Autosomal Recessive 37 40
1007 c DFN136 Deafness, Autosomal Dominant 9 39
1008 c DFN092 Deafness, Autosomal Recessive 49 39
1009 c DFN353 Deafness, Autosomal Dominant 12 38
1010 c DFN130 Deafness, Autosomal Recessive 21 38
1011 c DFN168 Deafness, Autosomal Recessive 26 38
1012 c DFN124 Deafness, Autosomal Recessive 6 37
1013 c DFN120 Deafness, Autosomal Recessive 39 37
1014 c DFN201 Deafness, Autosomal Recessive 3 37
1015 c DFN093 Deafness, Autosomal Recessive 23 37
1016 c DFN131 Deafness, Autosomal Dominant 1 37
1017 c DFN137 Deafness, Autosomal Dominant 13 36
1018 c DFN133 Deafness, Autosomal Recessive 9 36
1019 c DFN252 Deafness, Autosomal Recessive 24 35
1020 c DFN094 Deafness, Autosomal Dominant 28 35
1021 c DFN330 Deafness, Autosomal Recessive 97 35
1022 c DFN192 Deafness, Autosomal Dominant 23 35
1023 c DFN128 Deafness, Autosomal Dominant 36 34
1024 c DFN249 Deafness, Autosomal Recessive 93 34
1025 c DFN352 Deafness, Autosomal Recessive 8 34
1026 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
1027 c DFN190 Deafness, Autosomal Dominant 2a 34
1028 c DFN189 Deafness, Autosomal Dominant 25 34
1029 c DFN114 Deafness, Autosomal Recessive 67 33
1030 c DFN121 Deafness, Autosomal Recessive 28 33
1031 c DFN095 Deafness, Autosomal Recessive 25 33
1032 c DFN148 Deafness, Autosomal Dominant 16 33
1033 c DFN151 Deafness, Autosomal Dominant 24 33
1034 c DFN260 Deafness, Autosomal Recessive 89 32
1035 c DFN184 Deafness, Autosomal Recessive 85 32
1036 c DFN098 Deafness, Autosomal Dominant 3a 32
1037 c DFN123 Deafness, Autosomal Recessive 79 32
1038 c DFN139 Deafness, Autosomal Recessive 29 32
1039 c DFN183 Deafness, Autosomal Recessive 83 31
1040 c DFN269 Deafness, Autosomal Recessive 98 31
1041 c DFN029 Deafness, Autosomal Recessive 51 31
1042 c DFN360 Deafness, Autosomal Dominant 69 30
1043 c DFN127 Deafness, Autosomal Recessive 7 30
1044 c DFN118 Deafness, Autosomal Dominant 44 30
1045 c DFN258 Deafness, Autosomal Recessive 48 30
1046 c DFN159 Deafness, Autosomal Dominant 5 30
1047 c DFN171 Deafness, Autosomal Recessive 33 30
1048 c DFN240 Deafness, Autosomal Recessive 96 30
1049 c DFN116 Deafness, Autosomal Recessive 74 29
1050 c DFN119 Deafness, Autosomal Dominant 50 29
1051 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
1052 c DFN150 Deafness, Autosomal Dominant 21 29
1053 c DFN262 Deafness, Autosomal Recessive 15 29
1054 c DFN111 Deafness, Autosomal Recessive 35 29
1055 c DFN143 Deafness, Autosomal Recessive 16 29
1056 c DFN178 Deafness, Autosomal Recessive 59 29
1057 c DFN160 Deafness, Autosomal Dominant 52 29
1058 c DFN246 Deafness, Autosomal Dominant 51 28
1059 c DFN244 Deafness, Autosomal Recessive 42 28
1060 c DFN181 Deafness, Autosomal Recessive 66 28
1061 c DFN108 Deafness, Autosomal Recessive 77 28
1062 c DFN112 Deafness, Autosomal Recessive 63 28
1063 c DFN154 Deafness, Autosomal Dominant 31 28
1064 c DFN170 Deafness, Autosomal Recessive 31 27
1065 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
1066 c DFN280 Deafness, Autosomal Recessive 26
1067 c DFN103 Deafness, Autosomal Recessive 1b 26
1068 c DFN284 Deafness, Autosomal Dominant 67 26
1069 c DFN248 Deafness, Autosomal Recessive 18b 26
1070 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
1071 c DFN357 Deafness, Autosomal Recessive 47 26
1072 c DFN163 Deafness, Autosomal Dominant 7 26
1073 c DFN155 Deafness, Autosomal Dominant 41 25
1074 c DFN138 Deafness, Autosomal Recessive 53 25
1075 c DFN272 Deafness, Autosomal Dominant 54 25
1076 c DFN263 Deafness, Autosomal Recessive 68 25
1077 c DFN253 Deafness, Autosomal Recessive 84a 24
1078 c DFN247 Deafness, Autosomal Recessive 18a 24
1079 c DFN166 Deafness, Autosomal Recessive 17 24
1080 c DFN266 Deafness, Autosomal Dominant 4b 24
1081 c DFN267 Deafness, Autosomal Dominant 4a 24
1082 c DFN158 Deafness, Autosomal Dominant 49 24
1083 c DFN364 Deafness, Autosomal Recessive 57 24
1084 c DFN177 Deafness, Autosomal Recessive 5 23
1085 c DFN164 Deafness, Autosomal Recessive 13 23
1086 c DFN161 Deafness, Autosomal Dominant 53 23
1087 c DFN259 Deafness, Autosomal Recessive 86 23
1088 c DFN173 Deafness, Autosomal Recessive 40 23
1089 c DFN243 Deafness, Autosomal Recessive 88 22
1090 c DFN156 Deafness, Autosomal Dominant 43 22
1091 c DFN167 Deafness, Autosomal Recessive 20 22
1092 c DFN149 Deafness, Autosomal Dominant 18 22
1093 c DFN261 Deafness, Autosomal Recessive 46 22
1094 c DFN132 Deafness, Autosomal Recessive 22 22
1095 c DFN188 Deafness, Autosomal Recessive 61 22
1096 c DFN180 Deafness, Autosomal Recessive 65 22
1097 c DFN162 Deafness, Autosomal Dominant 59 21
1098 c DFN271 Deafness, Autosomal Dominant 58 21
1099 c DFN281 Deafness, Autosomal Recessive 103 21
1100 c DFN367 Deafness, Autosomal Recessive 110 21
1101 c DFN099 Deafness, Autosomal Dominant 2b 21
1102 c DFN328 Deafness, Autosomal Dominant 72 21
1103 c DFN255 Deafness, Autosomal Dominant 64 21
1104 c DFN030 Deafness, Autosomal Recessive 55 21
1105 c DFN169 Deafness, Autosomal Recessive 27 21
1106 c DFN254 Deafness, Autosomal Recessive 84b 21
1107 c DFN333 Deafness, Autosomal Dominant 73 20
1108 c DFN369 Deafness, Autosomal Recessive 111 20
1109 c DFN172 Deafness, Autosomal Recessive 38 20
1110 c DFN153 Deafness, Autosomal Dominant 30 20
1111 c DFN257 Deafness, Autosomal Dominant 33 20
1112 c DFN174 Deafness, Autosomal Recessive 44 20
1113 c DFN361 Deafness, Autosomal Recessive 106 20
1114 c DFN157 Deafness, Autosomal Dominant 47 20
1115 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 20
1116 c DFN325 Deafness, Autosomal Recessive 108 20
1117 c DFN368 Deafness, Autosomal Dominant 74 20
1118 c DFN265 Deafness, Autosomal Recessive 76 20
1119 c DFN273 Deafness, Autosomal Recessive 101 20
1120 c DFN165 Deafness, Autosomal Recessive 14 20
1121 c DFN329 Deafness, Autosomal Dominant 66 20
1122 c DFN278 Deafness, Autosomal Dominant 65 20
1123 c DFN277 Deafness, Autosomal Recessive 102 20
1124 c DFN371 Deafness, Autosomal Recessive 112 20
1125 c DFN179 Deafness, Autosomal Recessive 62 20
1126 c DFN182 Deafness, Autosomal Recessive 71 20
1127 c DFN175 Deafness, Autosomal Recessive 45 20
1128 c DFN242 Deafness, Autosomal Recessive 70 19
1129 c DFN283 Deafness, Autosomal Recessive 104 19
1130 c DFN335 Deafness, Autosomal Dominant 71 19
1131 c DFN135 Deafness, Autosomal Recessive 91 19
1132 c DFN134 Deafness, Autosomal Dominant 40 19
1133 c DFN102 Deafness, Autosomal Dominant 3b 19
1134 c DFN152 Deafness, Autosomal Dominant 27 19
1135 c DFN274 Deafness, Autosomal Dominant 56 19
1136 c DFN365 Deafness, Autosomal Recessive 109 19
1137 c DFN327 Deafness, Autosomal Dominant 70 19
1138 c DFN337 Deafness, Autosomal Recessive 107 19
1139 c DFN336 Deafness, Autosomal Dominant 68 18
1140 P FML056 Familial Deafness 18
1141 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 17
1142 c DFN373 Deafness, Autosomal Recessive 113 15
1143 c OTF001 Otof-Related Deafness 14
1144 c DFN374 Deafness, Autosomal Recessive 100 14
1145 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 8
1146 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 8
1147 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 8
1148 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 8
1149 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 8
1150 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 8
1151 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 8
1152 ACT119 Acute Promyelocytic Leukemia 59
1153 MCL009 Mcleod Syndrome 48
1154 TWN001 Twin-to-Twin Transfusion Syndrome 50
1155 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 35
1156 MGK001 Megakaryocytic Leukemia 64
1157 GLT018 Glut1 Deficiency Syndrome 1 38
1158 STR067 Stroke, Ischemic 82
1159 MYL031 Myeloproliferative Neoplasm 64
1160 P ANT006 Antiphospholipid Syndrome 60
1161 URN003 Urinary Schistosomiasis 50
1162 c ANT041 Antiphospholipid Syndrome, Familial 26
1163 c ERY067 Erythrocytosis, Familial, 8 21
1164 c ERY032 Erythrocytosis, Familial, 4 18
1165 SCH028 Schlegelberger Grote Syndrome 6
1166 P PLM037 Pulmonary Hypertension 77
1167 VRC005 Varicose Veins 66
1168 MST024 Mastocytosis, Cutaneous 62
1169 THR013 Thoracic Outlet Syndrome 56
1170 LKC005 Leukocyte Adhesion Deficiency, Type Iii 55
1171 CRB138 Core Binding Factor Acute Myeloid Leukemia 49
1172 c PLM127 Pulmonary Hypertension, Primary, 3 35
1173 CYT019 Cytogenetically Normal Acute Myeloid Leukemia 35
1174 c PLM128 Pulmonary Hypertension, Primary, 2 30
1175 c PLM121 Pulmonary Hypertension, Primary, 4 28
1176 c ERY063 Erythrocytosis, Familial, 5 17
1177 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 14
1178 CNN003 Conn's Syndrome 70
1179 c ART138 Aortic Aneurysm, Familial Abdominal, 1 66
1180 P VSC011 Vasculitis 66
1181 GTL001 Gitelman Syndrome 62
1182 MYL004 Myelodysplastic Myeloproliferative Cancer 54
1183 ATR002 Atransferrinemia 50
1184 c ERY048 Erythrocytosis, Familial, 2 50
1185 CHR105 Choreoacanthocytosis 49
1186 CLP006 Clopidogrel Resistance 45
1187 VSC008 Vascular Hemostatic Disease 43
1188 IRN004 Iron-Refractory Iron Deficiency Anemia 42
1189 c DYS165 Dysfibrinogenemia, Congenital 40
1190 c ATM104 Autoimmune Vasculitis 36
1191 P FML305 Familial Abdominal Aortic Aneurysm 24
1192 c ART151 Aortic Aneurysm, Familial Abdominal, 2 12
1193 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
1194 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1195 P HYP607 Hypercholesterolemia, Familial 81
1196 c CHR089 Chronic Kidney Failure 73
1197 PRP027 Peripheral Vascular Disease 72
1198 c JVN004 Juvenile Myelomonocytic Leukemia 70
1199 LNG099 Lung Disease 70
1200 c ART115 Aortic Valve Disease 1 69
1201 P CRD119 Cardiac Arrest 66
1202 PRT058 Pure Autonomic Failure 65
1203 HYP020 Hyperprolactinemia 63
1204 P EHL001 Ehlers-Danlos Syndrome 63
1205 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 61
1206 P CRG003 Crigler-Najjar Syndrome, Type I 61
1207 LKC009 Leukocyte Adhesion Deficiency, Type I 60
1208 IRN002 Iron Metabolism Disease 60
1209 TRG002 Trigeminal Neuralgia 60
1210 INT030 Intracranial Aneurysm 59
1211 c ANM038 Anemia, Autoimmune Hemolytic 59
1212 TRN015 Transient Cerebral Ischemia 59
1213 SHG001 Shigellosis 59
1214 LYM027 Lymphopenia 57
1215 c TYR012 Tyrosinemia, Type I 55
1216 RBR001 Roberts Syndrome 55
1217 P HYP024 Hypoparathyroidism 55
1218 CVR006 Cavernous Hemangioma 55
1219 HYP074 Hypersensitivity Vasculitis 54
1220 c ACT071 Acute Kidney Failure 54
1221 c CRG004 Crigler-Najjar Syndrome, Type Ii 54
1222 NRL004 Neuroleptic Malignant Syndrome 52
1223 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 52
1224 PRP009 Peripartum Cardiomyopathy 51
1225 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 50
1226 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 50
1227 CRY004 Cryoglobulinemia 50
1228 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 49
1229 GLC011 Galactose Epimerase Deficiency 49
1230 P TYR004 Tyrosinemia 48
1231 c HYP396 Hypercholesterolemia, Autosomal Recessive 47
1232 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
1233 c TYR011 Tyrosinemia, Type Iii 43
1234 PYR037 Pyruvate Carboxylase Deficiency 40
1235 c FML001 Familial Atrial Fibrillation 40
1236 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 36
1237 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 35
1238 c PST106 Post-Cardiac Arrest Syndrome 33
1239 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
1240 MYT019 May-Thurner Syndrome 29
1241 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
1242 c ATM068 Autoimmune Hypoparathyroidism 26
1243 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 25
1244 c EHL065 Ehlers-Danlos Syndrome, Type V 24
1245 PRT112 Portal Hypertension, Noncirrhotic 22
1246 c EHL091 Ehlers-Danlos Syndrome Type 7a 22
1247 c ATR061 Atrial Fibrillation, Familial, 10 21
1248 c ATR038 Atrial Fibrillation, Familial, 3 21
1249 c ATR035 Atrial Fibrillation, Familial, 6 21
1250 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 21
1251 c ATR059 Atrial Fibrillation, Familial, 11 20
1252 c ATR026 Atrial Fibrillation, Familial, 1 20
1253 c ATR072 Atrial Fibrillation, Familial, 13 20
1254 c ERY031 Erythrocytosis, Familial, 3 20
1255 c ATR037 Atrial Fibrillation, Familial, 7 19
1256 c ATR039 Atrial Fibrillation, Familial, 4 19
1257 c ATR069 Atrial Fibrillation, Familial, 12 19
1258 c ATR068 Atrial Fibrillation, Familial, 14 18
1259 c TYP003 Type I Ehlers-Danlos Syndrome 16
1260 c ATR070 Atrial Fibrillation, Familial, 9 16
1261 ANG063 Angiolipomatosis, Familial 15
1262 c EHL088 Ehlers-Danlos Syndrome Type 2 14
1263 c ATR027 Atrial Fibrillation, Familial, 5 14
1264 c ATR025 Atrial Fibrillation, Familial, 2 13
1265 c ATR028 Atrial Fibrillation, Familial, 8 13
1266 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 11
1267 c RNL016 Renal Infectious Disease 11
1268 c RNR002 Ren-Related Kidney Disease 10
1269 c EHL090 Ehlers-Danlos Syndrome Type 7b 10
1270 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 10
1271 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
1272 P RHM011 Rheumatoid Arthritis 81
1273 ULC004 Ulcerative Colitis 80
1274 P LVR013 Liver Disease 76
1275 MNT001 Mantle Cell Lymphoma 73
1276 P FML018 Familial Mediterranean Fever 73
1277 P GRF003 Graft-Versus-Host Disease 71
1278 P KDN018 Kidney Disease 71
1279 AGM019 Agammaglobulinemia, X-Linked 70
1280 c JVN010 Juvenile Rheumatoid Arthritis 70
1281 P PLM036 Pulmonary Fibrosis 70
1282 P ATR011 Atrial Fibrillation 69
1283 P CHR012 Chronic Granulomatous Disease 69
1284 P FLL037 Follicular Lymphoma 67
1285 OST003 Osteonecrosis 67
1286 P LNG028 Long Qt Syndrome 66
1287 P TXP001 Toxoplasmosis 66
1288 P ACR001 Aicardi-Goutieres Syndrome 65
1289 CHR063 Chronic Mucocutaneous Candidiasis 65
1290 INT066 Interstitial Lung Disease 65
1291 c LNG044 Long Qt Syndrome 1 64
1292 P CHR285 Chronic Myelomonocytic Leukemia 64
1293 SVR066 Severe Combined Immunodeficiency, X-Linked 64
1294 P CND004 Candidiasis 63
1295 P NPH012 Nephrotic Syndrome 63
1296 P OST001 Osteopetrosis 63
1297 DPH001 Diphtheria 63
1298 LGG001 Legg-Calve-Perthes Disease 62
1299 CYT008 Cytomegalovirus Infection 62
1300 IMM174 Immunodeficiency with Hyper-Igm, Type 1 62
1301 P PLY014 Polycystic Kidney Disease 62
1302 SPT004 Septic Arthritis 61
1303 c GLY003 Glycogen Storage Disease Iii 61
1304 P BRL012 Bare Lymphocyte Syndrome, Type Ii 61
1305 P BRG001 Brugada Syndrome 61
1306 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1307 DGR001 Digeorge Syndrome 61
1308 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 61
1309 DBT084 Diabetes Mellitus, Ketosis-Prone 60
1310 P ANP001 Anaplastic Large Cell Lymphoma 60
1311 c INF071 Inflammatory Bowel Disease 1 60
1312 P WLF004 Wolfram Syndrome 60
1313 DBT010 Diabetic Neuropathy 60
1314 NTR005 Nutritional Deficiency Disease 59
1315 ART001 Arterial Tortuosity Syndrome 59
1316 CHL028 Childhood Type Dermatomyositis 59
1317 PST046 Post-Transplant Lymphoproliferative Disease 59
1318 P MNC007 Monocytic Leukemia 58
1319 MRG003 Marginal Zone B-Cell Lymphoma 58
1320 PRM042 Primary Effusion Lymphoma 58
1321 BLD044 Bladder Disease 57
1322 PLC005 Placental Insufficiency 57
1323 c GLY005 Glycogen Storage Disease Vi 57
1324 c LKM070 Leukemia, Acute Monocytic 57
1325 P INF037 Inflammatory Bowel Disease 56
1326 PRP036 Peripheral T-Cell Lymphoma 56
1327 c GLY004 Glycogen Storage Disease V 56
1328 c CNG021 Congenital Toxoplasmosis 56
1329 P CTN015 Cutaneous T Cell Lymphoma 56
1330 ATN002 Autonomic Nervous System Disease 56
1331 P FNC043 Fanconi Anemia, Complementation Group E 56
1332 c LNG047 Long Qt Syndrome 2 56
1333 c WLF013 Wolfram Syndrome 1 55
1334 P ESN008 Eosinophilic Pneumonia 55
1335 RTC009 Reticulum Cell Sarcoma 55
1336 P LYM025 Lymphedema 54
1337 PPL049 Papillon-Lefevre Syndrome 54
1338 CHR081 Choroideremia 54
1339 c GLY007 Glycogen Storage Disease Iv 54
1340 HYP052 Hyperkalemic Periodic Paralysis 54
1341 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1342 NPH091 Nephrolithiasis, Calcium Oxalate 54
1343 VRC001 Varicocele 54
1344 BLR008 Bilirubin Metabolic Disorder 54
1345 CTS003 Coats Disease 54
1346 ATY042 Atypical Chronic Myeloid Leukemia 53
1347 PLS025 Plasmablastic Lymphoma 53
1348 LG4001 Lig4 Syndrome 53
1349 MYL003 Myeloid Sarcoma 53
1350 P FML052 Familial Cold Autoinflammatory Syndrome 53
1351 P TCL004 T-Cell Leukemia 53
1352 c ACT134 Acute Liver Failure 53
1353 CHR563 Chronic Eosinophilic Leukemia 53
1354 SPR004 Supravalvular Aortic Stenosis 52
1355 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 52
1356 c GLY011 Glycogen Storage Disease Vii 52
1357 RCH001 Richter's Syndrome 52
1358 P PLG001 Pelger-Huet Anomaly 52
1359 c CHR418 Chronic Leukemia 52
1360 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1361 ANG046 Angioimmunoblastic T-Cell Lymphoma 52
1362 LPD004 Lipoid Nephrosis 51
1363 P RNL007 Renal Tubular Acidosis 51
1364 INT054 Intraocular Lymphoma 51
1365 P MGL001 Megaloblastic Anemia 51
1366 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 51
1367 SPL012 Splenic Disease 50
1368 SPL004 Splenic Marginal Zone Lymphoma 50
1369 GYR004 Gyrate Atrophy of Choroid and Retina 50
1370 P PLY017 Polyarteritis Nodosa 50
1371 c FNC024 Fanconi Anemia, Complementation Group D1 50
1372 INT017 Intestinal Schistosomiasis 50
1373 CLD007 Cold Agglutinin Disease 50
1374 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 50
1375 LYM051 Lymphomatoid Granulomatosis 50
1376 HRP009 Herpes Simplex Encephalitis 50
1377 c GLY060 Glycogen Storage Disease Ia 50
1378 P PLM006 Pulmonary Alveolar Proteinosis 50
1379 OBS037 Obesity-Hypoventilation Syndrome 50
1380 c LNG048 Long Qt Syndrome 3 50
1381 c NPH055 Nephrotic Syndrome, Type 1 50
1382 SHH001 Sheehan Syndrome 50
1383 URC002 Urea Cycle Disorder 49
1384 IMM102 Immunodeficiency 14 49
1385 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 49
1386 c CHR037 Chronic Eosinophilic Pneumonia 49
1387 PRL017 Prolymphocytic Leukemia 49
1388 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 49
1389 ACT200 Acute Monoblastic Leukemia 49
1390 MST002 Mast-Cell Leukemia 49
1391 FML026 Familial Lipoprotein Lipase Deficiency 49
1392 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 49
1393 HYP063 Hypersplenism 49
1394 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 49
1395 RDD003 Riddle Syndrome 48
1396 c MYL058 Myeloproliferative Syndrome, Transient 48
1397 c HRD039 Hereditary Amyloidosis 48
1398 IRK001 Irak4 Deficiency 48
1399 FML089 Familial Thoracic Aortic Aneurysm and Dissection 48
1400 AMB001 Amebiasis 48
1401 P KRN004 Kernicterus 48
1402 c GMM003 Gamma Heavy Chain Disease 48
1403 IMM104 Immunodeficiency with Hyper-Igm, Type 2 48
1404 SPL018 Splenomegaly 47
1405 c MGL018 Megaloblastic Anemia 1 47
1406 c INF145 Infantile Liver Failure Syndrome 1 47
1407 c PSR021 Psoriasis 14, Pustular 47
1408 P MTH008 Methylmalonic Acidemia 47
1409 SBC012 Subcorneal Pustular Dermatosis 47
1410 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1411 PRP056 Porphyria, Acute Hepatic 47
1412 c ATS282 Autosomal Recessive Malignant Osteopetrosis 46
1413 AGG002 Aggressive Systemic Mastocytosis 46
1414 FLL013 Follicular Dendritic Cell Sarcoma 46
1415 LVD003 Livedoid Vasculitis 46
1416 PLM068 Pulmonary Vein Stenosis 46
1417 c FLL041 Follicular Lymphoma 1 46
1418 DPM001 Dopamine Beta-Hydroxylase Deficiency 45
1419 P DYS021 Dysautonomia 45
1420 RTN021 Retinal Vascular Occlusion 45
1421 CRT046 Corticosteroid-Binding Globulin Deficiency 45
1422 CMP004 Complement Factor I Deficiency 45
1423 c BRG005 Brugada Syndrome 1 45
1424 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 45
1425 LYM052 Lymphomatoid Papulosis 44
1426 P BCL005 B Cell Prolymphocytic Leukemia 44
1427 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 44
1428 c LNG050 Long Qt Syndrome 5 44
1429 P PLM085 Pulmonary Hemosiderosis 44
1430 CHR276 Chronic Active Epstein-Barr Virus Infection 44
1431 FDL002 Food Allergy 44
1432 IMM184 Immunodeficiency 17 44
1433 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1434 SLT001 Solitary Osseous Plasmacytoma 44
1435 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 44
1436 THY009 Thyroid Lymphoma 43
1437 PLS016 Plasma Cell Leukemia 43
1438 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 43
1439 c LNG051 Long Qt Syndrome 6 43
1440 INT038 Interdigitating Dendritic Cell Sarcoma 43
1441 NDL024 Nodal Marginal Zone Lymphoma 43
1442 c FML015 Familial Nephrotic Syndrome 43
1443 ACT113 Acute Myeloblastic Leukemia with Maturation 43
1444 P PRM293 Primary Mediastinal B-Cell Lymphoma 43
1445 IMM015 Immune Defect Due to Absence of Thymus 43
1446 IMM105 Immunodeficiency with Hyper-Igm, Type 3 42
1447 CRD137 Cardiogenic Shock 42
1448 MST004 Mast Cell Neoplasm 42
1449 CHL149 Childhood Acute Myeloid Leukemia 42
1450 GLY015 Glycine N-Methyltransferase Deficiency 42
1451 BCL002 B Cell Deficiency 42
1452 c NPH049 Nephrotic Syndrome, Type 2 42
1453 EXT007 Extracutaneous Mastocytoma 41
1454 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1455 c PRM038 Primary Agammaglobulinemia 41
1456 ALD013 Aldosterone-Producing Adenoma 41
1457 GDS001 Good Syndrome 41
1458 c HRD007 Hereditary Lymphedema 41
1459 c LNG053 Long Qt Syndrome 9 41
1460 CMP042 Complement Factor H Deficiency 41
1461 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 40
1462 SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 40
1463 CVR010 Cavernous Malformation 40
1464 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 40
1465 MTH021 Methylmalonic Acidemia with Homocystinuria 40
1466 c CNG439 Congenital Lymphedema 40
1467 c GLY044 Glycogen Storage Disease Ixc 40
1468 FTL004 Fetal Erythroblastosis 40
1469 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 40
1470 c LNG057 Long Qt Syndrome 13 40
1471 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 39
1472 GRH001 Gorham's Disease 39
1473 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39
1474 IMM131 Immunodeficiency with Hyper-Igm, Type 4 39
1475 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 39
1476 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1477 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1478 HST016 Histiocytic Sarcoma 38
1479 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 38
1480 CHR286 Chronic Neutrophilic Leukemia 38
1481 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 38
1482 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 38
1483 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 38
1484 c LNG096 Long Qt Syndrome 15 38
1485 INT221 Intravascular Large B-Cell Lymphoma 38
1486 MDS019 Mediastinal Malignant Lymphoma 38
1487 c ADL001 Adult Lymphoma 38
1488 VRS001 Virus Associated Hemophagocytic Syndrome 38
1489 MST001 Mast-Cell Sarcoma 37
1490 TRN030 Transient Erythroblastopenia of Childhood 37
1491 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 37
1492 PRK003 Parkes Weber Syndrome 37
1493 HMC038 Hemochromatosis, Neonatal 37
1494 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
1495 c NPH070 Nephrotic Syndrome, Type 6 37
1496 OST008 Osteosclerotic Myeloma 37
1497 WLD007 Waldenstroem's Macroglobulinemia 36
1498 c NPH054 Nephrotic Syndrome, Type 3 36
1499 c CHR064 Chronic Monocytic Leukemia 36
1500 c HRD202 Hereditary Lymphedema I 36
1501 c ACR092 Aicardi-Goutieres Syndrome 5 36
1502 PDT001 Pediatric Lymphoma 36
1503 CTN001 Cutaneous Solitary Mastocytoma 36
1504 c LNG056 Long Qt Syndrome 12 35
1505 c WLF009 Wolfram Syndrome 2 35
1506 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 35
1507 IMM070 Immunodeficiency 13 34
1508 RFR002 Refractory Hairy Cell Leukemia 34
1509 ATN011 Autoinflammation with Infantile Enterocolitis 34
1510 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 34
1511 MDS006 Mediastinal Gray Zone Lymphoma 34
1512 CMP001 Composite Lymphoma 34
1513 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
1514 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 34
1515 LNG004 Langerhans Cell Sarcoma 34
1516 GRY001 Gray Zone Lymphoma 33
1517 LFF001 Loeffler Endocarditis 33
1518 c ACR091 Aicardi-Goutieres Syndrome 4 33
1519 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 33
1520 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 33
1521 ALK003 Aleukemic Leukemia Cutis 32
1522 ACT114 Acute Myeloblastic Leukemia Without Maturation 32
1523 LYM014 Lymphangitis 32
1524 c HRD206 Hereditary Lymphedema Ii 32
1525 GRN032 Granulomatous Slack Skin Disease 32
1526 c ACR090 Aicardi-Goutieres Syndrome 2 32
1527 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1528 NNT007 Neonatal Leukemia 32
1529 RFM001 Roifman Syndrome 32
1530 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 32
1531 UNC014 Unicentric Castleman Disease 32
1532 ACT177 Acute Basophilic Leukemia 31
1533 c BRG007 Brugada Syndrome 5 31
1534 c LKM005 Leukemia, T-Cell, Chronic 31
1535 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1536 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 31
1537 c ERY065 Erythrocytosis, Familial, 7 31
1538 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
1539 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 30
1540 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 30
1541 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1542 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 30
1543 c GLY009 Glycogen Storage Disease Xv 30
1544 NDL020 Nodal Marginal Zone B-Cell Lymphoma 30
1545 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 30
1546 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 30
1547 PRD001 Predominantly Cortical Thymoma 29
1548 IMM065 Immunodeficiency 10 29
1549 c GLY097 Glycogen Storage Disease Ixb 29
1550 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 29
1551 c ACR084 Aicardi-Goutieres Syndrome 7 29
1552 c OST125 Osteopetrosis, Autosomal Dominant 1 29
1553 c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 28
1554 EPT007 Epithelial Malignant Thymoma 28
1555 HST008 Histiocytic and Dendritic Cell Cancer 28
1556 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 28
1557 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 28
1558 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 28
1559 MYL067 Myeloproliferative Disorder, Chronic, with Eosinophilia 27
1560 c SNG011 Singleton-Merten Syndrome 1 27
1561 c LNG098 Long Qt Syndrome 14 27
1562 c LVR030 Liver Failure, Infantile, Transient 27
1563 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 27
1564 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 27
1565 IMM062 Immunodeficiency 11 27
1566 CTN027 Cutaneous Mastocytoma 27
1567 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 27
1568 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 27
1569 c GLY006 Glycogen Storage Disease Viii 27
1570 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
1571 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 26
1572 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 26
1573 MNS002 Mini Stroke 25
1574 IMM066 Immunodeficiency 9 25
1575 NTR006 Neutrophil Immunodeficiency Syndrome 25
1576 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
1577 c BRG006 Brugada Syndrome 2 25
1578 IMM143 Immunodeficiency 48 25
1579 c OST106 Osteopetrosis, Autosomal Recessive 8 25
1580 PRS002 Prostate Lymphoma 25
1581 CLS052 Classic Hairy Cell Leukemia 25
1582 c CND036 Candidiasis, Familial, 4 25
1583 c NPH047 Nephrotic Syndrome, Type 4 25
1584 FCL083 Ficolin 3 Deficiency 25
1585 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 25
1586 c SBC004 Subacute Myeloid Leukemia 24
1587 IMM117 Immunodeficiency by Defective Expression of Hla Class 1 24
1588 IMM068 Immunodeficiency 8 24
1589 CD8002 Cd8 Deficiency, Familial 24
1590 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 24
1591 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 24
1592 c NPH073 Nephrotic Syndrome, Type 8 24
1593 IMM095 Immunodeficiency 35 24
1594 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 24
1595 IMM120 Immunodeficiency 40 24
1596 c GLY059 Glycogen Storage Disease Xiii 24
1597 IMM176 Immunodeficiency with Hyper-Igm, Type 5 24
1598 NSL004 Nasal Cavity Lymphoma 24
1599 PLS003 Plasmacytic Leukemia 24
1600 c FML334 Familial Candidiasis 23
1601 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23
1602 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 23
1603 c INF160 Inflammatory Bowel Disease 17 23
1604 IMM142 Immunodeficiency 50 23
1605 IMM077 Immunodeficiency 20 23
1606 ESN023 Eosinophilia, Familial 23
1607 c NPH095 Nephrotic Syndrome, Type 11 23
1608 IMM180 Immunodeficiency 28 23
1609 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 23
1610 c INF077 Inflammatory Bowel Disease 19 23
1611 WRM004 Warm Antibody Hemolytic Anemia 22
1612 c NPH074 Nephrotic Syndrome, Type 9 22
1613 c NPH103 Nephrotic Syndrome, Type 15 22
1614 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1615 IMM190 Immunodeficiency 55 22
1616 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 22
1617 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1618 c CND025 Candidiasis, Familial, 8 22
1619 c ADL093 Adult Acute Monocytic Leukemia 22
1620 c MCR161 Macroglobulinemia, Waldenstrom 1 22
1621 c FML344 Familial Mediterranean Fever, Autosomal Dominant 22
1622 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 22
1623 c BRG012 Brugada Syndrome 9 22
1624 TRC018 Tracheal Lymphoma 22
1625 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1626 SLC003 Selective Igm Deficiency Disease 22
1627 CRB087 Cerebral Arteriosclerosis 22
1628 IMM191 Immunodeficiency 56 22
1629 c INF138 Infantile Liver Failure Syndrome 2 22
1630 c LNG045 Long Qt Syndrome 10 22
1631 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 22
1632 SPC022 Specific Antibody Deficiency 22
1633 c BRG009 Brugada Syndrome 7 21
1634 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1635 IMM134 Immunodeficiency, Common Variable, 13 21
1636 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1637 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 21
1638 IMM071 Immunodeficiency 12 21
1639 IMM183 Immunodeficiency 32a 21
1640 IND009 Indeterminate Cell Histiocytosis 21
1641 MSP001 Masp2 Deficiency 21
1642 GLL013 Gallbladder Lymphoma 21
1643 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 21
1644 IMM150 Immunodeficiency 52 21
1645 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 21
1646 c CND033 Candidiasis, Familial, 1 21
1647 c NPH096 Nephrotic Syndrome, Type 12 21
1648 IMM075 Immunodeficiency 22 20
1649 c INF067 Inflammatory Bowel Disease 10 20
1650 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1651 IMM079 Immunodeficiency, Common Variable, 11 20
1652 SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 20
1653 IMM186 Immunodeficiency 27b 20
1654 IMM182 Immunodeficiency 31a 20
1655 SBL003 Subleukemic Leukemia 20
1656 IMM181 Immunodeficiency 29 20
1657 CMB092 Combined Immunodeficiency Due to Cd27 Deficiency 20
1658 ALK017 Alk-Positive Large B-Cell Lymphoma 20
1659 BSP001 Basophil Adenoma 20
1660 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 20
1661 c SNG012 Singleton-Merten Syndrome 2 19
1662 c CND031 Candidiasis, Familial, 9 19
1663 c BRG003 Brugada Syndrome 3 19
1664 IMM118 Immunodeficiency 42 19
1665 c ATR092 Atrial Fibrillation, Familial, 15 19
1666 TCL022 T-Cell Receptor-Alpha/beta Deficiency 19
1667 c BRG010 Brugada Syndrome 8 19
1668 BND002 B- and T-Cell Mixed Leukemia 19
1669 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 19
1670 c NPH076 Nephrotic Syndrome, Type 10 19
1671 c ERY064 Erythrocytosis, Familial, 6 19
1672 c NPH105 Nephrotic Syndrome, Type 17 19
1673 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 19
1674 IMM076 Immunodeficiency 24 19
1675 c NPH107 Nephrotic Syndrome, Type 19 19
1676 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 19
1677 c NPH104 Nephrotic Syndrome, Type 16 19
1678 c BRG004 Brugada Syndrome 4 18
1679 IMM135 Immunodeficiency 46 18
1680 c NPH106 Nephrotic Syndrome, Type 18 18
1681 P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 18
1682 KPS005 Kaposiform Lymphangiomatosis 18
1683 c LNG046 Long Qt Syndrome 11 18
1684 c INF093 Inflammatory Bowel Disease 14 18
1685 c PLY141 Polycystic Kidney Disease 5 18
1686 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 18
1687 c ATR085 Atrial Fibrillation, Familial, 18 18
1688 THY006 Thymus Lymphoma 17
1689 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
1690 c SYS066 Systemic Polyarteritis Nodosa 17
1691 c INF170 Inflammatory Bowel Disease 29 17
1692 c INF068 Inflammatory Bowel Disease 13 17
1693 c BRG008 Brugada Syndrome 6 17
1694 c TCL008 T-Cell Lymphoma 1a 17
1695 IMM130 Immunoneurologic Disorder, X-Linked 17
1696 c CND027 Candidiasis, Familial, 3 17
1697 c NPH093 Nephrotic Syndrome, Type 13 17
1698 c PLM044 Pulmonary Fibrosis, Familial 16
1699 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 16
1700 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1701 PRM133 Primary Pulmonary Lymphoma 15
1702 HYD045 Hydroa Vacciniforme-Like Lymphoma 15
1703 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 15
1704 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 15
1705 LNP001 Loin Pain Hematuria Syndrome 15
1706 LCH010 Lichtenstein Syndrome 15
1707 c RNL117 Renal Tubular Acidosis Iii 14
1708 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 14
1709 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1710 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 14
1711 c PSD024 Pseudo Pelger-Huet Anomaly 14
1712 ALK014 Aleukemic Mast Cell Leukemia 13
1713 c DYS194 Dysautonomia-Like Disorder 13
1714 STR014 Sternum Lymphoma 13
1715 c SBC006 Subacute Leukemia 12
1716 APP002 Appendix Lymphoma 12
1717 c PRM222 Primary Polyarteritis Nodosa 12
1718 c ANP011 Anaplastic Small Cell Lymphoma 12
1719 RFR001 Refractory Plasma Cell Neoplasm 12
1720 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 11
1721 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 11
1722 c SBC015 Subacute Monocytic Leukemia 11
1723 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 11
1724 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 11
1725 PRN002 Paranasal Sinus Lymphoma 11
1726 RCT002 Rectum Lymphoma 11
1727 ALP049 Alopecia Antibody Deficiency 11
1728 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 10
1729 CVR004 Cavernous Hemangioma of Colon 10
1730 c CLC009 Clcn7-Related Osteopetrosis 10
1731 ALK002 Aleukemic Monocytic Leukemia Cutis 10
1732 NTR010 Neutropenia Monocytopenia Deafness 10
1733 ACT179 Acute Myeloid Leukemia with 11q23 Abnormalities 10
1734 c SCN047 Secondary Pulmonary Hemosiderosis 10
1735 NKD001 Nik Deficiency 9
1736 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 9
1737 URT017 Ureteral Lymphoma 9
1738 c PLY176 Polycystic Kidney Disease 4 8
1739 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1740 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 8
1741 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 8
1742 CCM002 Cecum Lymphoma 8
1743 c HRD205 Hereditary Lymphedema Ib 8
1744 LYM117 Lymphocytic Hypereosinophilic Syndrome 8
1745 c SCN055 Secondary Polyarteritis Nodosa 8
1746 c LCL003 Localized Pulmonary Fibrosis 7
1747 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
1748 c KRN003 Kernicterus Due to Isoimmunization 7
1749 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1750 c HRD203 Hereditary Lymphedema Id 7
1751 c HRD100 Hereditary Lymphedema Ic 7
1752 c HRD204 Hereditary Lymphedema Ia 7
1753 SVR074 Severe Combined Immunodeficiency Due to Ikk2 Deficiency 6
1754 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 6
1755 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1756 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 6
1757 PRM165 Primary Plasmacytoma of the Bone 6
1758 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
1759 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
1760 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 6
1761 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 6
1762 ANS007 Anus Lymphoma 6
1763 PRM142 Primary Oculocerebral Lymphoma 5
1764 IMM197 Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome 5
1765 c FML317 Familial Monosomy 7 Syndrome 5
1766 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 5
1767 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 5
1768 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
1769 CLS019 Classic Mast Cell Leukemia 5
1770 PRM148 Primary Lymphoma of the Conjunctiva 5
1771 MTH001 Methotrexate-Associated Lymphoproliferation 4
1772 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
1773 VSC006 Vascular Cancer 50
1774 HYD038 Hydrops Fetalis, Nonimmune 51
1775 VSC007 Vascular Disease 72
1776 c LKM071 Leukemia, Chronic Lymphocytic 78
1777 P LYM031 Lymphocytic Leukemia 61
1778 c ADL052 Adult Acute Lymphocytic Leukemia 45
1779 c LKM056 Leukemia, Chronic Lymphocytic 2 43
1780 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 33
1781 c LKM050 Leukemia, Chronic Lymphocytic 1 18
1782 c LKM051 Leukemia, Chronic Lymphocytic 3 18
1783 c LKM052 Leukemia, Chronic Lymphocytic 5 17
1784 c LKM053 Leukemia, Chronic Lymphocytic 4 12
1785 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
1786 P DLT002 Dilated Cardiomyopathy 75
1787 P LYM118 Lymphoma 69
1788 c CRD099 Cardiomyopathy, Dilated, 1e 56
1789 P EXD001 Exudative Vitreoretinopathy 50
1790 c CRD187 Cardiomyopathy, Dilated, 3b 48
1791 c CRD233 Cardiomyopathy, Dilated, 1b 44
1792 c CRD093 Cardiomyopathy, Dilated, 1a 44
1793 c CRD097 Cardiomyopathy, Dilated, 1d 43
1794 c CRD105 Cardiomyopathy, Dilated, 1o 35
1795 c CRD069 Cardiomyopathy, Dilated, 1h 33
1796 c EYL003 Eye Lymphoma 33
1797 c ATM102 Autoimmune Cardiomyopathy 30
1798 c CRD104 Cardiomyopathy, Dilated, 1p 30
1799 c CRD102 Cardiomyopathy, Dilated, 1j 29
1800 c EXD004 Exudative Vitreoretinopathy 4 26
1801 c CRD155 Cardiomyopathy, Dilated, 1kk 24
1802 c CRD107 Cardiomyopathy, Dilated, 1r 23
1803 c EXD010 Exudative Vitreoretinopathy 6 22
1804 c CRD101 Cardiomyopathy, Dilated, 1x 22
1805 c EXD007 Exudative Vitreoretinopathy 3 22
1806 c EXD006 Exudative Vitreoretinopathy 5 22
1807 c CRD113 Cardiomyopathy, Dilated, 1v 22
1808 c CRD063 Cardiomyopathy, Dilated, 2a 21
1809 c CRD091 Cardiomyopathy, Dilated, 1dd 21
1810 c CRD244 Cardiomyopathy, Dilated, 2c 20
1811 c CRD162 Cardiomyopathy, Dilated, 1ii 20
1812 c EXD012 Exudative Vitreoretinopathy 7 20
1813 c CRD153 Cardiomyopathy, Dilated, 2b 20
1814 c CRD114 Cardiomyopathy, Dilated, 1m 20
1815 c CRD159 Cardiomyopathy, Dilated, 1hh 20
1816 c CRD149 Cardiomyopathy, Dilated, 1jj 19
1817 c CRD173 Cardiomyopathy, Dilated, 1nn 19
1818 c CRD112 Cardiomyopathy, Dilated, 1u 19
1819 c CRD090 Cardiomyopathy, Dilated, 1l 19
1820 c CRD080 Cardiomyopathy, Dilated, 1g 19
1821 c CRD082 Cardiomyopathy, Dilated, 1gg 19
1822 c CRD115 Cardiomyopathy, Dilated, 1cc 19
1823 c CRD108 Cardiomyopathy, Dilated, 1bb 19
1824 c CRD092 Cardiomyopathy, Dilated, 1w 18
1825 c CRD111 Cardiomyopathy, Dilated, 1i 18
1826 c CRD060 Cardiomyopathy, Dilated, 1z 18
1827 c CRD096 Cardiomyopathy, Dilated, 1ee 18
1828 c CRD064 Cardiomyopathy, Dilated, 1ff 17
1829 c CRD070 Cardiomyopathy, Dilated, 1k 15
1830 c CRD071 Cardiomyopathy, Dilated, 1q 15
1831 c DLT017 Dilated Cardiomyopathy 1t 14
1832 c LMN001 Lmna-Related Dilated Cardiomyopathy 11
1833 c CRD027 Cardiomyopathy Due to Anthracyclines 9
1834 P LNG032 Lung Cancer 99
1835 GST053 Gastric Cancer 78
1836 PLM134 Pulmonary Fibrosis, Idiopathic 73
1837 LYM133 Lymphoma, Hodgkin, Classic 72
1838 P PHC003 Pheochromocytoma 72
1839 P LKM002 Leukemia 72
1840 P RSP003 Respiratory Failure 72
1841 P BLD134 Bladder Cancer 70
1842 c PLM164 Pulmonary Hypertension, Primary, 1 70
1843 CHD001 Chediak-Higashi Syndrome 67
1844 P HMP002 Hemophagocytic Lymphohistiocytosis 66
1845 ART005 Arteriovenous Malformation 66
1846 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 66
1847 HYP780 Hypoadrenocorticism, Familial 62
1848 HRY003 Hairy Cell Leukemia 60
1849 c SVR001 Severe Acute Respiratory Syndrome 60
1850 P HYP061 Hypertrophic Cardiomyopathy 59
1851 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 58
1852 LRG008 Large Granular Lymphocyte Leukemia 49
1853 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 48
1854 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 47
1855 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 47
1856 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47
1857 HST006 Histidinemia 44
1858 c BLD008 Bladder Carcinoma in Situ 40
1859 BLS007 Blastic Plasmacytoid Dendritic Cell 39
1860 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 39
1861 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 38
1862 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 38
1863 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 36
1864 c SPR094 Sporadic Pheochromocytoma 36
1865 c MLG157 Malignant Pheochromocytoma 35
1866 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 34
1867 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
1868 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 30
1869 BNM005 Bone Marrow Necrosis 27
1870 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 26
1871 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 26
1872 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 25
1873 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 24
1874 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 23
1875 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 23
1876 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 23
1877 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 23
1878 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 23
1879 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 22
1880 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 22
1881 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 21
1882 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 21
1883 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 21
1884 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 21
1885 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 20
1886 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 20
1887 c LNG003 Lung Carcinoma in Situ 9
1888 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
1889 P CLR023 Colorectal Cancer 99
1890 LYM143 Lymphoma, Non-Hodgkin, Familial 73
1891 MYC006 Mycosis Fungoides 73
1892 MLT157 Multiple System Atrophy 1 72
1893 c EXD008 Exudative Vitreoretinopathy 1 72
1894 CMM004 Common Variable Immunodeficiency 71
1895 P CLC063 Celiac Disease 1 71
1896 P NJM001 Nijmegen Breakage Syndrome 69
1897 P MYL006 Myeloid Leukemia 67
1898 P MYC084 Mycobacterium Tuberculosis 1 67
1899 ABT001 Abetalipoproteinemia 67
1900 SZR001 Sezary's Disease 66
1901 c ACT210 Acute Respiratory Distress Syndrome 66
1902 CNT097 Central Hypoventilation Syndrome, Congenital 65
1903 CNC002 Cinca Syndrome 64
1904 P ADL010 Adult Respiratory Distress Syndrome 64
1905 P PLY011 Polycystic Ovary Syndrome 64
1906 P BCL006 B-Cell Lymphomas 64
1907 PRD013 Periodic Fever, Familial, Autosomal Dominant 63
1908 P LYM033 Lymphoproliferative Syndrome 63
1909 BLM001 Bloom Syndrome 63
1910 c ACT073 Acute Leukemia 62
1911 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 62
1912 RSC001 Rosacea 61
1913 P PTN014 Patent Ductus Arteriosus 1 61
1914 P HYP370 Hypokalemic Periodic Paralysis, Type 1 60
1915 FRC011 Fructose Intolerance, Hereditary 60
1916 HYP190 Hypoalphalipoproteinemia, Primary 60
1917 RRR001 Rere-Related Disorders 59
1918 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
1919 c SVR003 Severe Congenital Neutropenia 58
1920 DFF005 Diffuse Large B-Cell Lymphoma 58
1921 GLB001 Gilbert Syndrome 57
1922 ERY029 Erythermalgia, Primary 57
1923 LYM040 Lymphoblastic Lymphoma 57
1924 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 57
1925 c ACT020 Acute T Cell Leukemia 57
1926 HDR002 Hidradenitis Suppurativa 57
1927 P CNT005 Central Nervous System Lymphoma 57
1928 c HYP731 Hyperaldosteronism, Familial, Type I 56
1929 c OST131 Osteopetrosis, Autosomal Dominant 2 55
1930 P LFT003 Left Ventricular Noncompaction 55
1931 WHM001 Whim Syndrome 55
1932 ACT103 Acute Lymphoblastic Leukemia, Childhood 55
1933 c ALB009 Albinism, Oculocutaneous, Type Ia 54
1934 P OCL002 Oculocutaneous Albinism 54
1935 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
1936 c HMN021 Human T-Cell Leukemia Virus Type 1 53
1937 P BRT004 Bartter Disease 53
1938 c LKM060 Leukemia, Acute Lymphoblastic 3 53
1939 c ALB021 Albinism, Oculocutaneous, Type Ii 53
1940 c TCL005 T-Cell Prolymphocytic Leukemia 52
1941 P RST002 Restrictive Cardiomyopathy 52
1942 c PRM226 Primary Central Nervous System Lymphoma 52
1943 CHL061 Childhood Leukemia 52
1944 c MLG054 Malignant Histiocytosis 51
1945 c ALB020 Albinism, Oculocutaneous, Type Iii 51
1946 CHR001 Churg-Strauss Syndrome 50
1947 NTR003 Natural Killer Cell Leukemia 49
1948 SCH016 Schimke Immunoosseous Dysplasia 49
1949 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1950 TTR005 Tetrahydrobiopterin Deficiency 48
1951 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 48
1952 ENC055 Encephalopathy, Ethylmalonic 48
1953 P ERY008 Erythromelalgia 48
1954 TCL002 T-Cell Large Granular Lymphocyte Leukemia 47
1955 LGH004 Light Chain Deposition Disease 47
1956 c ALB010 Albinism, Oculocutaneous, Type Ib 47
1957 c ALB019 Albinism, Oculocutaneous, Type Iv 47
1958 CLL014 Cll/sll 47
1959 GLY014 Glycerol Kinase Deficiency 47
1960 c TYR013 Tyrosinemia, Type Ii 46
1961 c OST129 Osteopetrosis, Autosomal Recessive 2 46
1962 c ALB015 Albinism, Oculocutaneous, Type V 46
1963 SML008 Small Intestine Lymphoma 46
1964 GLT007 Glutathione Synthetase Deficiency 45
1965 ERY051 Erythroleukemia, Familial 45
1966 FML075 Familial Isolated Hyperparathyroidism 45
1967 c OST136 Osteopetrosis, Autosomal Recessive 7 45
1968 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 44
1969 CSP005 Caspase 8 Deficiency 44
1970 c LYM107 Lymphoproliferative Syndrome 2 44
1971 c BRT042 Bartter Syndrome, Type 3 44
1972 c HMN022 Human T-Cell Leukemia Virus Type 2 43
1973 c FNC046 Fanconi Anemia, Complementation Group P 43
1974 c FML053 Familial Colorectal Cancer 43
1975 LNG013 Lung Lymphoma 42
1976 c PLY105 Polycystic Ovary Syndrome 1 42
1977 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 42
1978 c ALB016 Albinism, Oculocutaneous, Type Vii 41
1979 c BRL011 Bare Lymphocyte Syndrome, Type I 41
1980 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 41
1981 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 41
1982 P 8P1002 8p11 Myeloproliferative Syndrome 40
1983 c CLR085 Colorectal Cancer 1 40
1984 c GRS012 Griscelli Syndrome, Type 3 40
1985 ENT008 Enteropathy-Associated T-Cell Lymphoma 39
1986 IMM078 Immunodeficiency 21 39
1987 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 39
1988 GST020 Gastric Antral Vascular Ectasia 39
1989 LYM042 Lymphocytic Colitis 39
1990 MTR008 Mature B-Cell Neoplasm 38
1991 c LKM004 Leukemia, B-Cell, Chronic 38
1992 c FML311 Familial Colorectal Cancer Type X 38
1993 P THP004 Thiopurines, Poor Metabolism of, 1 38
1994 P FML156 Familial Hyperaldosteronism 37
1995 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
1996 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
1997 c ACR088 Aicardi-Goutieres Syndrome 3 37
1998 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 36
1999 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 36
2000 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 36
2001 HPT070 Hepatosplenic T-Cell Lymphoma 35
2002 IMM064 Immunodeficiency, Common Variable, 10 35
2003 c HYP600 Hyperaldosteronism, Familial, Type Ii 35
2004 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 35
2005 BCL008 B-Cell Childhood Acute Lymphoblastic Leukemia 35
2006 CNG016 Congenital Intrinsic Factor Deficiency 35
2007 CNT018 Central Nervous System Leukemia 35
2008 CLN005 Colon Lymphoma 35
2009 ASP026 Asplenia, Isolated Congenital 35
2010 SPL011 Spleen Cancer 34
2011 P INH011 Inherited Bone Marrow Failure Syndromes 34
2012 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
2013 MJD001 Majeed Syndrome 33
2014 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 33
2015 BLD028 Bladder Lymphoma 33
2016 P BNL002 Bone Lymphoma 32
2017 c HYP606 Hypokalemic Periodic Paralysis, Type 2 32
2018 c LYM106 Lymphoproliferative Syndrome 1 32
2019 c OST134 Osteopetrosis, Autosomal Recessive 6 32
2020 NLL001 Null-Cell Leukemia 32
2021 IMM080 Immunodeficiency 23 31
2022 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 31
2023 P SNG014 Singleton-Merten Syndrome 31
2024 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
2025 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30
2026 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 30
2027 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 30
2028 c CLR077 Colorectal Cancer 10 30
2029 c NPH072 Nephrotic Syndrome, Type 7 30
2030 c LFT021 Left Ventricular Noncompaction 1 30
2031 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
2032 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 29
2033 c ALP087 Alpha-Heavy Chain Disease 29
2034 c LYM151 Lymphoproliferative Syndrome 3 29
2035 c FML253 Familial Cold Autoinflammatory Syndrome 3 29
2036 c OST137 Osteopetrosis, Autosomal Recessive 4 29
2037 c CLR080 Colorectal Cancer 5 28
2038 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 28
2039 c ALB017 Albinism, Oculocutaneous, Type Vi 28
2040 c CRD176 Cardiomyopathy, Familial Restrictive, 1 26
2041 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 26
2042 IMM100 Immunoglobulin Kappa Light Chain Deficiency 25
2043 DLF001 Dieulafoy Lesion 25
2044 c BNM013 Bone Marrow Failure Syndrome 3 25
2045 IMM166 Immunodeficiency 27a 25
2046 c EPD085 Epidermodysplasia Verruciformis 3 25
2047 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 24
2048 c CLR087 Colorectal Cancer 12 24
2049 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
2050 IMM096 Immunodeficiency 30 23
2051 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 23
2052 IMM178 Immunodeficiency 31b 23
2053 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 23
2054 c BNM011 Bone Marrow Failure Syndrome 2 22
2055 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 22
2056 c BNM032 Bone Marrow Failure Syndrome 4 22
2057 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
2058 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 22
2059 c LFT017 Left Ventricular Noncompaction 8 22
2060 IMM099 Immunodeficiency 33 21
2061 c EPD086 Epidermodysplasia Verruciformis 4 21
2062 TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 21
2063 c LFT018 Left Ventricular Noncompaction 10 21
2064 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
2065 IMM074 Immunodeficiency 16 21
2066 c BRT024 Bartter Syndrome Type 4 21
2067 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 21
2068 c CLC048 Celiac Disease 3 21
2069 c CLR075 Colorectal Cancer 3 21
2070 c PRM151 Primary Bone Lymphoma 20
2071 c CLR079 Colorectal Cancer 2 20
2072 c LKM055 Leukemia, Acute Lymphoblastic 2 19
2073 c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 19
2074 c BNM033 Bone Marrow Failure Syndrome 5 19
2075 c CND037 Candidiasis, Familial, 6 19
2076 c HYP708 Hyperaldosteronism, Familial, Type Iv 19
2077 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 18
2078 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 18
2079 c CRD098 Cardiomyopathy, Familial Restrictive, 3 18
2080 IMM172 Immunodeficiency 34 18
2081 c CLC037 Celiac Disease 4 18
2082 ERY007 Erythropoietin Polycythemia 17
2083 MLY011 Maleylacetoacetate Isomerase Deficiency 17
2084 c LFT020 Left Ventricular Noncompaction 7 16
2085 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 16
2086 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
2087 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
2088 c CLC039 Celiac Disease 13 15
2089 c THP005 Thiopurines, Poor Metabolism of, 2 15
2090 c CLC046 Celiac Disease 5 14
2091 c CLR083 Colorectal Cancer 8 14
2092 c CLC045 Celiac Disease 2 14
2093 c CLC038 Celiac Disease 10 14
2094 c CLR082 Colorectal Cancer 7 14
2095 c CLR081 Colorectal Cancer 6 14
2096 c CLC040 Celiac Disease 6 14
2097 c CLC047 Celiac Disease 8 13
2098 c CLC044 Celiac Disease 12 13
2099 c CLC042 Celiac Disease 9 13
2100 c CLC043 Celiac Disease 11 13
2101 c CLC041 Celiac Disease 7 13
2102 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
2103 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 13
2104 c LFT011 Left Ventricular Noncompaction 2 13
2105 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
2106 c SCN066 Secondary Erythromelalgia 12
2107 ISL032 Isolated Bone Marrow Mastocytosis 12
2108 c MYC055 Mycobacterium Tuberculosis 3 12
2109 c CLR084 Colorectal Cancer 9 11
2110 c CLR078 Colorectal Cancer 11 11
2111 c ADL080 Adult Acute Respiratory Distress Syndrome 11
2112 c HMN023 Human T-Cell Leukemia Virus Type 3 11
2113 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
2114 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 10
2115 c MYC054 Mycobacterium Tuberculosis 2 9
2116 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 8
2117 PNC007 Pancreas Lymphoma 7
2118 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
2119 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
2120 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
2121 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 6
2122 c FML158 Familial Hemangioma 6
2123 CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 6
2124 CNG172 Congenital Vascular Cavernous Malformations 5
2125 VSC022 Vascular Erectile Tumor 5
2126 PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5
2127 c SCN010 Scn9a-Related Inherited Erythromelalgia 3
2128 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 23
2129 BNM001 Bone Marrow Cancer 60
2130 WLS001 Wilson Disease 70
2131 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 69
2132 LYM007 Lymphangioleiomyomatosis 67
2133 OMN001 Omenn Syndrome 66
2134 STF001 Stiff-Person Syndrome 64
2135 P JVN014 Juvenile Polyposis Syndrome 62
2136 RTH001 Rothmund-Thomson Syndrome 61
2137 P TRC086 Trichohepatoenteric Syndrome 1 60
2138 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
2139 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2140 P GRS003 Griscelli Syndrome 56
2141 CHR003 Cherubism 56
2142 c ALM001 Al Amyloidosis 55
2143 P EPD083 Epidermodysplasia Verruciformis 1 54
2144 PRN001 Purine Nucleoside Phosphorylase Deficiency 52
2145 HYD012 Hydrops Fetalis 51
2146 VCS001 Vici Syndrome 45
2147 c GRS013 Griscelli Syndrome, Type 1 39
2148 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 38
2149 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 37
2150 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
2151 IMM179 Immunodeficiency 31c 32
2152 LYM094 Lymphedema, Primary, with Myelodysplasia 31
2153 c CND034 Candidiasis, Familial, 2 30
2154 c JVN034 Juvenile Polyposis of Infancy 27
2155 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
2156 c BNM010 Bone Marrow Failure Syndrome 1 27
2157 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 24
2158 IMM177 Immunodeficiency 54 24
2159 SPN026 Spinal Cord Lymphoma 21
2160 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 16
2161 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 15
2162 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 8
2163 ACR006 Aceruloplasminemia 73
2164 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
2165 MSM014 Mismatch Repair Cancer Syndrome 64
2166 MCK007 Muckle-Wells Syndrome 63
2167 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 37
2168 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
2169 c EPD087 Epidermodysplasia Verruciformis 5 16
2170 c EPD084 Epidermodysplasia Verruciformis 2 15
2171 PYR009 Pyridoxine Deficiency Anemia 37



Content
Loading form....