Blood Diseases Category (2165 diseases)


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

# Family MCID Name MIFTS
1 GLN010 Glanzmann Thrombasthenia 69
2 c BTT014 Beta-Thalassemia 73
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 P ESS003 Essential Thrombocythemia 70
8 THR100 Thrombocytopenic Purpura, Autoimmune 68
9 c THR071 Thrombocytopenia 1 50
10 PRT012 Prothrombin Deficiency 40
11 c PRT045 Prothrombin-Related Thrombophilia 18
12 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 40
13 HRD083 Hereditary Antithrombin Deficiency 28
14 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 32
15 P THR005 Thrombotic Thrombocytopenic Purpura 65
16 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 61
17 c ALP101 Alpha-Thalassemia 61
18 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 52
19 P SCK034 Sickle Beta Thalassemia 32
20 P HMG032 Hemoglobin H Disease 55
21 SCT005 Scott Syndrome 47
22 GHS005 Ghosal Hematodiaphyseal Dysplasia 29
23 BLD053 Blood Platelet Disease 56
24 THR009 Thrombocytopenia-Absent Radius Syndrome 46
25 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
26 HMT002 Hematologic Cancer 64
27 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 62
28 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 49
29 SCK003 Sickle Cell Anemia 75
30 STR081 Stormorken Syndrome 50
31 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 19
32 ANT009 Antithrombin Iii Deficiency 58
33 QBC001 Quebec Platelet Disorder 35
34 FCT013 Factor V Leiden Thrombophilia 27
35 c THR092 Thrombophilia Due to Thrombin Defect 70
36 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 43
37 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 38
38 c BLD152 Bleeding Disorder, Platelet-Type, 16 34
39 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 32
40 c VNW008 Von Willebrand Disease, Type 3 52
41 c PSD048 Pseudo-Von Willebrand Disease 43
42 c BLD123 Bleeding Disorder, Platelet-Type, 13 20
43 c MYH004 Myh9 Related Thrombocytopenia 28
44 PRT129 Prothrombin Deficiency, Congenital 50
45 HMN035 Hemangioma-Thrombocytopenia Syndrome 41
46 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 25
47 c BLD125 Bleeding Disorder, Platelet-Type, 17 24
48 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 23
49 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 23
50 PRT011 Protein C Deficiency 49
51 c THR037 Thrombocytopenia 2 28
52 ALP013 Alpha-Thalassemia Myelodysplasia Syndrome 28
53 P BLD120 Bleeding Disorder, Platelet-Type, 8 25
54 STR089 Storage Pool Platelet Disease 48
55 THR101 Thrombocytopenia, Paris-Trousseau Type 25
56 c BLD121 Bleeding Disorder, Platelet-Type, 15 20
57 c BLD154 Bleeding Disorder, Platelet-Type, 12 31
58 HRD163 Hereditary Antithrombin Deficiency Type 2 6
59 HRD164 Hereditary Antithrombin Deficiency Type I 6
60 c BLD124 Bleeding Disorder, Platelet-Type, 11 55
61 HPR003 Heparin-Induced Thrombocytopenia 49
62 PLT004 Platelet Glycoprotein Iv Deficiency 44
63 c THR102 Thrombocytopenia 5 24
64 P WSK001 Wiskott-Aldrich Syndrome 76
65 c THR090 Thrombocythemia 1 38
66 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 33
67 PRX008 Paroxysmal Cold Hemoglobinuria 31
68 c WSK002 Wiskott-Aldrich Syndrome 2 27
69 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 17
70 SCK020 Sickle Cell - Hemoglobin D Disease 17
71 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 23
72 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 22
73 c BLD133 Bleeding Disorder, Platelet-Type, 20 19
74 THR016 Thrombophlebitis 54
75 c BLD127 Bleeding Disorder, Platelet-Type, 19 24
76 P HML033 Hemolytic Uremic Syndrome, Atypical 1 65
77 c THR082 Thrombophilia Due to Activated Protein C Resistance 60
78 INT078 Intracranial Thrombosis 47
79 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
80 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
81 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
82 c HML036 Hemolytic Uremic Syndrome, Atypical 6 22
83 c HML035 Hemolytic Uremic Syndrome, Atypical 2 21
84 BLD141 Blood Group--Kell System 15
85 P THR014 Thrombocytopenia 65
86 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 19
87 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 40
88 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 26
89 c THR110 Thrombocytopenia 6 21
90 HMG005 Hemoglobinopathy 54
91 c THR111 Thrombocytopenia 3 34
92 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 20
93 WTL002 Wt Limb-Blood Syndrome 20
94 c BLD126 Bleeding Disorder, Platelet-Type, 18 19
95 c THR048 Thrombocytopenia 4 18
96 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 16
97 BLD160 Blood Group, John Milton Hagen System 10
98 c HYP595 Hypertension, Essential 77
99 THR024 Thrombosis 64
100 P FML187 Familial Hypertension 42
101 c MLG039 Malignant Essential Hypertension 28
102 c BNG021 Benign Essential Hypertension 25
103 THR116 Thrombocytopenia, Cyclic 24
104 c MLG080 Malignant Secondary Hypertension 23
105 c BLD157 Bleeding Disorder, Platelet-Type, 9 19
106 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 17
107 BLD146 Blood Group, P1pk System 16
108 c HYP452 Hypertension, Essential 6 11
109 c HYP449 Hypertension, Essential 3 11
110 c HYP450 Hypertension, Essential 4 11
111 c HYP451 Hypertension, Essential 5 10
112 c HYP448 Hypertension, Essential 2 10
113 c HYP447 Hypertension, Essential 1 10
114 c HYP453 Hypertension, Essential 7 10
115 c HYP454 Hypertension, Essential 8 10
116 THR039 Thrombocytopenia Robin Sequence 8
117 c BNG034 Benign Secondary Hypertension 7
118 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 4
119 THR004 Thrombocytosis 55
120 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 35
121 c BLD156 Bleeding Disorder, Platelet-Type, 14 29
122 c THR086 Thrombocythemia 3 21
123 P VNW001 Von Willebrand's Disease 63
124 CNT010 Central Nervous System Hematologic Cancer 29
125 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 24
126 BLD167 Blood Group, Kidd System 16
127 PLM033 Pulmonary Embolism 64
128 P HMP007 Hemophilia 62
129 SCK005 Sickle Cell Disease 57
130 CYC010 Cyclic Neutropenia 56
131 P BLD051 Blood Coagulation Disease 51
132 CHR466 Chronic Thromboembolic Pulmonary Hypertension 44
133 c HMG001 Hemoglobin C Disease 43
134 SGT001 Sagittal Sinus Thrombosis 35
135 HPR006 Heparin Cofactor Ii Deficiency 29
136 CVR002 Cavernous Sinus Thrombosis 28
137 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 22
138 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 22
139 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 21
140 c BLD132 Bleeding Disorder, Platelet-Type, 21 19
141 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 17
142 MCR041 Macrothrombocytopenia Progressive Deafness 13
143 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 12
144 PRM053 Primary Release Disorder of Platelets 11
145 RPH001 Raph Blood Group System 10
146 FMR001 Femoral Vein Thrombophlebitis 10
147 WHT007 White Platelet Syndrome 9
148 c HMT006 Hematocrit/hemoglobin Quantitative Trait Locus 2 6
149 c HMT007 Hematocrit/hemoglobin Quantitative Trait Locus 3 6
150 P HMT005 Hematocrit/hemoglobin Quantitative Trait Locus 1 6
151 BLD054 Blood Protein Disease 43
152 c HMG003 Hemoglobin E Disease 43
153 c SCP001 Sc Phocomelia Syndrome 39
154 c DKP001 Dk Phocomelia Syndrome 23
155 P PHC014 Phocomelia 22
156 c THR087 Thrombocythemia 2 17
157 c THR023 Thrombophilia Due to Thrombomodulin Defect 16
158 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 16
159 c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 15
160 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52
161 PRT018 Portal Vein Thrombosis 51
162 BLC004 Blackwater Fever 33
163 c BLD140 Blood Group, I System 26
164 BLD165 Blood Group, Colton System 23
165 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
166 BLD155 Blood Group, Cromer System 19
167 PRN017 Perianal Hematoma 18
168 BLD159 Blood Group, Junior System 17
169 BLD162 Blood Group, Vel System 14
170 BLD166 Blood Group, Diego System 11
171 BLD158 Blood Group, Chido/rodgers System 8
172 DFC004 Deficiency Anemia 65
173 CRN017 Coronary Thrombosis 47
174 PRT014 Protein S Deficiency 46
175 QLT001 Qualitative Platelet Defect 32
176 HMG010 Hemoglobinemia 30
177 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 28
178 LTR002 Lateral Sinus Thrombosis 26
179 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 25
180 HMT001 Hematocele of Tunica Vaginalis Testis 24
181 SYS059 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 22
182 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 21
183 THR121 Thrombocythemia with Distal Limb Defects 7
184 THR043 Thrombomodulin Anomalies, Familial 7
185 P MNP015 Mean Platelet Volume Quantitative Trait Locus 2 6
186 HMT018 Hematopoietic Stem Cell Transplantation 59
187 HMG002 Hemoglobinuria 51
188 PST095 Post-Thrombotic Syndrome 51
189 ASP030 Aspirin Resistance 46
190 RFR004 Refractory Hematologic Cancer 32
191 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 23
192 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
193 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 20
194 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 14
195 HMG031 Hemoglobin, High Altitude Adaptation 11
196 c AFB002 Afibrinogenemia, Congenital 61
197 FCT006 Factor V Deficiency 49
198 RDN004 Radin Blood Group Antigen 29
199 BLD161 Blood Group, Globoside System 29
200 STC016 Sticky Platelet Syndrome 28
201 BLD163 Blood Group, Dombrock System 23
202 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 22
203 BLD164 Blood Group, Gerbich System 21
204 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 18
205 THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 18
206 BLD151 Blood Group--Wright Antigen 15
207 BLD148 Blood Group, Langereis System 13
208 BLD144 Blood Group System, Landsteiner-Wiener 11
209 DSS009 Disseminated Intravascular Coagulation 58
210 P THR015 Thrombophilia 56
211 c ANM036 Anemia, Sideroblastic, 1 55
212 THR035 Thrombasthenia 46
213 P SDR003 Sideroblastic Anemia 43
214 PLT015 Platelet Aggregation, Spontaneous 42
215 c INH004 Inherited Blood Coagulation Disease 41
216 c ACQ005 Acquired Thrombocytopenia 40
217 TNP004 Tn Polyagglutination Syndrome 36
218 SMH001 Sm-Ahnmd 30
219 HMM001 Hemometra 28
220 INT076 Intracranial Sinus Thrombosis 25
221 c ATS210 Autosomal Recessive Sideroblastic Anemia 25
222 c HMG004 Hemoglobin D Disease 24
223 c ANM034 Anemia, Sideroblastic, 4 22
224 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 17
225 c ANK019 Ankrd26-Related Thrombocytopenia 16
226 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
227 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
228 ACQ051 Acquired Prothrombin Deficiency 13
229 PRM285 Primitive Portal Vein Thrombosis 13
230 THR098 Thrombocythemia, X-Linked 11
231 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
232 FCT024 Factor V Excess with Spontaneous Thrombosis 10
233 ILC001 Iliac Vein Thrombophlebitis 9
234 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 6
235 MDC003 Medich Giant Platelet Syndrome 6
236 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 6
237 c MNP020 Mean Platelet Volume Quantitative Trait Locus 5 6
238 c MNP021 Mean Platelet Volume Quantitative Trait Locus 6 6
239 c MNP016 Mean Platelet Volume Quantitative Trait Locus 3 6
240 CYT021 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 6
241 c MNP014 Mean Platelet Volume Quantitative Trait Locus 1 6
242 c MNP019 Mean Platelet Volume Quantitative Trait Locus 4 6
243 c SCK008 Sickle Delta Beta Thalassemia 6
244 HMG024 Hemoglobinopathy Toms River 6
245 BLD143 Blood Group--Lke 5
246 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 5
247 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
248 THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2
249 P HYP014 Hyperuricemia 56
250 c HRM005 Hermansky-Pudlak Syndrome 1 51
251 c HRM008 Hermansky-Pudlak Syndrome 5 51
252 c HRM007 Hermansky-Pudlak Syndrome 4 36
253 c HRM020 Hermansky-Pudlak Syndrome 10 29
254 c HRD048 Hereditary Hyperuricemia 18
255 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 15
256 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 14
257 RHN014 Rh-Null, Amorph Type 11
258 MLR004 Malaria 85
259 P MYC007 Myocardial Infarction 78
260 P NTR004 Neutropenia 61
261 c ACT075 Acute Myocardial Infarction 57
262 PNC001 Pancytopenia 53
263 LKC003 Leukocyte Disease 52
264 P HMC002 Homocystinuria 51
265 c HRM006 Hermansky-Pudlak Syndrome 3 50
266 VTM033 Vitamin K Deficiency Bleeding 47
267 c HRM009 Hermansky-Pudlak Syndrome 6 43
268 P CNG003 Congenital Dyserythropoietic Anemia 42
269 P HRD012 Hereditary Elliptocytosis 40
270 c HRM011 Hermansky-Pudlak Syndrome 8 39
271 MRN001 Marantic Endocarditis 39
272 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
273 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
274 c HRM012 Hermansky-Pudlak Syndrome 9 37
275 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 35
276 c HRM010 Hermansky-Pudlak Syndrome 7 34
277 ATM012 Autoimmune Disease of Blood 31
278 c MYC058 Myocardial Infarction 2 31
279 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 29
280 c PST001 Posterior Myocardial Infarction 27
281 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
282 BLD153 Blood Group--Swann System 25
283 c ELL005 Elliptocytosis 2 24
284 c NTR045 Neutropenia, Chronic Familial 20
285 c ELL006 Elliptocytosis 3 20
286 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 16
287 THR007 Thrombophlebitis Migrans 16
288 ACH007 Achenbach Syndrome 9
289 c ELN001 Elane-Related Neutropenia 7
290 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 3
291 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 3
292 CNG034 Congestive Heart Failure 71
293 P DMN001 Diamond-Blackfan Anemia 71
294 ISC004 Ischemia 67
295 P DBT009 Diabetes Mellitus 67
296 P HML002 Hemolytic Anemia 65
297 P SHW006 Shwachman-Diamond Syndrome 1 64
298 HYP056 Hypoglycemia 64
299 GST033 Gestational Diabetes 63
300 c PRC016 Pre-Eclampsia 61
301 P END033 Endocarditis 60
302 P PLY018 Polycythemia 60
303 P ECL001 Eclampsia 59
304 CRT016 Carotid Artery Disease 58
305 c PRM012 Primary Polycythemia 56
306 c VNW010 Von Willebrand Disease, Type 2 56
307 c SVR005 Severe Pre-Eclampsia 55
308 P VNS003 Venous Insufficiency 54
309 IRN001 Iron Deficiency Anemia 54
310 c DMN023 Diamond-Blackfan Anemia 1 53
311 HMC014 Homocysteinemia 52
312 c CNG027 Congenital Hemolytic Anemia 52
313 RYN005 Raynaud Phenomenon 52
314 c CHR431 Chronic Venous Insufficiency 50
315 c VNW005 Von Willebrand Disease, Type 1 49
316 ISC015 Ischemic Colitis 46
317 P PRP034 Purpura Fulminans 46
318 c ACQ010 Acquired Polycythemia 43
319 HYP003 Hypermethioninemia 39
320 CRT004 Carotid Artery Thrombosis 37
321 c PRM225 Primary Thrombocytopenia 37
322 c SBC003 Subacute Bacterial Endocarditis 36
323 CRB132 Cerebral Sinovenous Thrombosis 34
324 PLT031 Platelet Membrane Fluidity 34
325 OVL001 Ovalocytosis, Southeast Asian 33
326 c CNG223 Congenital Methemoglobinemia 30
327 PRK005 Prekallikrein Deficiency 30
328 c TYP035 Type 1 Diabetes Mellitus 11 28
329 c ACQ047 Acquired Methemoglobinemia 28
330 P ATS208 Autosomal Dominant Macrothrombocytopenia 28
331 c TYP037 Type 1 Diabetes Mellitus 13 27
332 c TYP033 Type 1 Diabetes Mellitus 7 26
333 BLD052 Blood Group Incompatibility 26
334 MYH015 Myh-9 Related Disease 25
335 c TYP031 Type 1 Diabetes Mellitus 5 25
336 c TYP032 Type 1 Diabetes Mellitus 6 25
337 c DMN040 Diamond-Blackfan Anemia 16 24
338 c TYP028 Type 1 Diabetes Mellitus 2 24
339 c TYP027 Type 1 Diabetes Mellitus 10 24
340 c TYP036 Type 1 Diabetes Mellitus 12 23
341 c TYP038 Type 1 Diabetes Mellitus 15 23
342 c SHW007 Shwachman-Diamond Syndrome 2 23
343 PLS032 Plasmodium Falciparum Blood Infection Level 22
344 BLD137 Blood Group--Ahonen 21
345 DHY015 Dehydrated Hereditary Stomatocytosis 2 21
346 TFR002 Tafro Syndrome 20
347 c ATS209 Autosomal Dominant Secondary Polycythemia 20
348 c TYP039 Type 1 Diabetes Mellitus 17 19
349 c TYP034 Type 1 Diabetes Mellitus 8 19
350 FRS010 Forsythe-Wakeling Syndrome 19
351 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
352 c DMN039 Diamond-Blackfan Anemia 17 19
353 P BLD150 Blood Group--Ul System 19
354 c TYP040 Type 1 Diabetes Mellitus 18 18
355 VNS012 Venous Thoracic Outlet Syndrome 18
356 c DMN030 Diamond-Blackfan Anemia 13 18
357 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
358 c TYP029 Type 1 Diabetes Mellitus 3 16
359 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 16
360 c TYP030 Type 1 Diabetes Mellitus 4 16
361 c DMN045 Diamond-Blackfan Anemia-Like 16
362 PLT016 Platelet Adenylate Cyclase Activity 15
363 c DMN047 Diamond-Blackfan Anemia 18 14
364 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13
365 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
366 c DMN049 Diamond-Blackfan Anemia 20 12
367 PLT028 Platelet Factor 3 Deficiency 12
368 THR115 Thrombocyte B 11
369 c ACQ039 Acquired Purpura Fulminans 10
370 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
371 c MTH084 Methemoglobinemia, Alpha Type 10
372 P PLT029 Platelet Groups--Ko System 10
373 PLT034 Platelet Prostacyclin Receptor Defect 9
374 c DMN048 Diamond-Blackfan Anemia 19 9
375 PLT027 Platelet Disorder, Undefined 9
376 PLS033 Plasma Clot Retraction Factor, Deficiency of 9
377 c MTH083 Methemoglobinemia, Beta Type 9
378 PLT033 Platelet Signal Processing Defect 9
379 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
380 WHT020 White Blood Cell Count Quantitative Trait Locus 1 8
381 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
382 BLD145 Blood Group--Newfoundland 8
383 ATH014 Athrombia, Essential 8
384 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
385 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
386 HMG030 Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain 7
387 YTB001 Yt Blood Group Antigen 7
388 THL019 Thalassemia, Beta+, Silent Allele 7
389 TRN013 Transient Neonatal Thrombocytopenia 7
390 UNS001 Unstable Hemoglobin Disease 6
391 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
392 c PLY005 Polycythemia Due to Hypoxia 6
393 HMT020 Hematopoietic Stem Cell Kinetics, Control of 4
394 BLD147 Blood Group--Private Systems 4
395 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4
396 BLD136 Blood Group--Abh Antigen, Type 2 3
397 BLD139 Blood Group--En 3
398 c PLT030 Platelet Groups--Pl System 3
399 BLD135 Blood Group--Abo Suppressor 3
400 SCK036 Sickle Cell Disease Associated with an Other Hemoglobin Anomaly 3
401 MYL069 Myeloma, Multiple 85
402 P ATX030 Ataxia-Telangiectasia 83
403 c LKM061 Leukemia, Acute Myeloid 83
404 P FNC027 Fanconi Anemia, Complementation Group a 81
405 KPS004 Kaposi Sarcoma 77
406 PLY001 Polycythemia Vera 76
407 APL001 Aplastic Anemia 75
408 P CRN018 Coronary Artery Anomaly 74
409 c LKM063 Leukemia, Chronic Myeloid 74
410 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 73
411 P AGM001 Agammaglobulinemia 72
412 c ATM006 Autoimmune Lymphoproliferative Syndrome 71
413 ART016 Aortic Aneurysm 71
414 MYL009 Myelodysplastic Syndrome 71
415 MYL005 Myelofibrosis 70
416 CRB039 Cerebrovascular Disease 70
417 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70
418 BRK010 Burkitt Lymphoma 69
419 P AMY004 Amyloidosis 69
420 P WLD002 Waldenstrom Macroglobulinemia 68
421 P MYL006 Myeloid Leukemia 68
422 P DYS007 Dyskeratosis Congenita 67
423 P HYP098 Hypereosinophilic Syndrome 67
424 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 67
425 P PRD008 Periodontitis 66
426 P GCH001 Gaucher's Disease 66
427 DNG002 Dengue Hemorrhagic Fever 66
428 c GCH015 Gaucher Disease, Type I 65
429 HYP066 Hyperglycemia 65
430 P LYM033 Lymphoproliferative Syndrome 63
431 PMS001 Poems Syndrome 63
432 LSC001 Lesch-Nyhan Syndrome 63
433 P HST010 Histiocytosis 63
434 c ADL017 Adult T-Cell Leukemia 63
435 c ACT074 Acute Lymphocytic Leukemia 62
436 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
437 P CTS001 Cutis Laxa 62
438 P CRN300 Coronary Heart Disease 1 62
439 GT001 Gout 62
440 PRP030 Purpura 62
441 HNC001 Henoch-Schoenlein Purpura 62
442 P HMN010 Hemangioma 61
443 c ANM038 Anemia, Autoimmune Hemolytic 61
444 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 61
445 ATH013 Atherosclerosis Susceptibility 61
446 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
447 c ALM001 Al Amyloidosis 60
448 c PRD040 Periodontitis, Chronic 60
449 HYP810 Hypereosinophilic Syndrome, Idiopathic 60
450 NTH001 Netherton Syndrome 60
451 P HMR003 Hemorrhagic Disease 59
452 ANG020 Angiosarcoma 59
453 c GCH016 Gaucher Disease, Type Ii 59
454 PRP082 Porphyria, Congenital Erythropoietic 58
455 P ACT105 Acute Mountain Sickness 58
456 P ERY058 Erythrocytosis, Familial, 1 58
457 c SVR003 Severe Congenital Neutropenia 58
458 c ACT020 Acute T Cell Leukemia 58
459 P GRS003 Griscelli Syndrome 57
460 HRT012 Heart Valve Disease 57
461 FCT003 Factor X Deficiency 56
462 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
463 HYP005 Hypokalemia 56
464 FCT001 Factor Viii Deficiency 56
465 c AMY009 Amyloidosis Aa 56
466 P HYP050 Hyperinsulinemic Hypoglycemia 55
467 c GCH017 Gaucher Disease, Type Iii 55
468 c FNC042 Fanconi Anemia, Complementation Group D2 54
469 c HMN021 Human T-Cell Leukemia Virus Type 1 53
470 P TCL004 T-Cell Leukemia 53
471 RTN003 Retinal Ischemia 53
472 P FNC044 Fanconi Anemia, Complementation Group C 52
473 FLT011 Felty Syndrome 52
474 BRT005 Barth Syndrome 52
475 HLL004 Hellp Syndrome 52
476 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 52
477 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
478 PRD004 Prediabetes Syndrome 51
479 HNN001 Hennekam Syndrome 51
480 PLY112 Polyarteritis Nodosa, Childhood-Onset 51
481 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
482 P PLM006 Pulmonary Alveolar Proteinosis 50
483 P ART018 Aortic Valve Insufficiency 50
484 P RTN014 Retinal Artery Occlusion 50
485 HYP006 Hypertensive Heart Disease 50
486 ORT008 Orotic Aciduria 49
487 c GRS014 Griscelli Syndrome, Type 2 49
488 RVS001 Revesz Syndrome 49
489 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
490 ESN002 Eosinophilia-Myalgia Syndrome 48
491 EXT010 Extramedullary Plasmacytoma 48
492 c HRD039 Hereditary Amyloidosis 48
493 P KRN004 Kernicterus 48
494 VTM002 Vitamin B12 Deficiency 48
495 P ANL018 Analbuminemia 48
496 c ERY048 Erythrocytosis, Familial, 2 48
497 c MLG054 Malignant Histiocytosis 48
498 PLM035 Pulmonary Eosinophilia 48
499 TRN022 Transcobalamin Ii Deficiency 48
500 P MTH007 Methemoglobinemia 47
501 c CHR546 Chronic Mountain Sickness 47
502 LPP002 Lipoprotein Glomerulopathy 47
503 MCR017 Macrocytic Anemia 46
504 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
505 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
506 HMP001 Hemopericardium 45
507 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
508 PRS127 Pearson Marrow-Pancreas Syndrome 44
509 c FNC045 Fanconi Anemia, Complementation Group F 44
510 c LYM107 Lymphoproliferative Syndrome 2 44
511 c FNC032 Fanconi Anemia, Complementation Group B 44
512 IND002 Indolent Systemic Mastocytosis 43
513 c LKM056 Leukemia, Chronic Lymphocytic 2 43
514 PKL001 Poikiloderma with Neutropenia 43
515 SPT002 Septicemic Plague 43
516 c HMN022 Human T-Cell Leukemia Virus Type 2 43
517 c FNC058 Fanconi Anemia, Complementation Group R 43
518 ANM001 Anemia of Prematurity 42
519 NNK001 Nonaka Myopathy 42
520 c SPH013 Spherocytosis, Type 1 42
521 c FNC023 Fanconi Anemia, Complementation Group N 42
522 TRC021 Tricuspid Valve Stenosis 42
523 c FNC057 Fanconi Anemia, Complementation Group U 42
524 MCR018 Microcytic Anemia 42
525 c FNC056 Fanconi Anemia, Complementation Group V 41
526 c PRC031 Preeclampsia/eclampsia 1 41
527 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 41
528 c FNC028 Fanconi Anemia, Complementation Group L 41
529 RFR010 Refractory Anemia 41
530 NTR018 Neutrophilia, Hereditary 41
531 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
532 c CNT028 Central Retinal Artery Occlusion 41
533 c FNC029 Fanconi Anemia, Complementation Group I 41
534 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 40
535 c GRS013 Griscelli Syndrome, Type 1 40
536 LCH001 Leech Infestation 40
537 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 40
538 c GRS012 Griscelli Syndrome, Type 3 40
539 c FNC046 Fanconi Anemia, Complementation Group P 39
540 LKS001 Leukostasis 39
541 c FNC025 Fanconi Anemia, Complementation Group J 39
542 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 39
543 c PRM038 Primary Agammaglobulinemia 39
544 LTT002 Letterer-Siwe Disease 39
545 ESN017 Eosinophilic Granuloma 39
546 c TRN009 Transient Hypogammaglobulinemia of Infancy 39
547 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
548 c LKM004 Leukemia, B-Cell, Chronic 38
549 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
550 TRS021 Triosephosphate Isomerase Deficiency 38
551 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 38
552 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
553 c PSD106 Pseudo-Torch Syndrome 1 38
554 P HVY001 Heavy Chain Disease 38
555 BLT003 Blue Toe Syndrome 37
556 P TRN016 Transient Hypogammaglobulinemia 37
557 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
558 c SPH014 Spherocytosis, Type 2 36
559 FNC030 Fanconi Anemia, Complementation Group G 36
560 GLY032 Glycosylphosphatidylinositol Deficiency 36
561 c SPH015 Spherocytosis, Type 3 36
562 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
563 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
564 MYL002 Myelophthisic Anemia 36
565 HYP001 Hypochromic Microcytic Anemia 36
566 OVR093 Overhydrated Hereditary Stomatocytosis 36
567 c FNC048 Fanconi Anemia, Complementation Group O 36
568 c PRM149 Primary Hypereosinophilic Syndrome 36
569 c FNC062 Fanconi Anemia, Complementation Group S 35
570 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 35
571 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 35
572 PRC051 Paracetamol Poisoning 35
573 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
574 CMP040 Complement Component 4, Partial Deficiency of 35
575 FLT009 Folate Malabsorption, Hereditary 34
576 PLT001 Plethora of Newborn 34
577 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
578 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
579 LCN001 Lice Infestation 34
580 c SPH016 Spherocytosis, Type 4 34
581 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
582 NNT011 Neonatal Anemia 34
583 CNG017 Congenital Nonspherocytic Hemolytic Anemia 33
584 c FNC052 Fanconi Anemia, Complementation Group T 33
585 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
586 FSR001 Fusariosis 33
587 KLL014 Kelley-Seegmiller Syndrome 33
588 GNT005 Giant Hemangioma 33
589 CHL070 Cholesterol Embolism 33
590 c DMN021 Diamond-Blackfan Anemia 6 33
591 FLL042 Folliculotropic Mycosis Fungoides 33
592 c FNC047 Fanconi Anemia, Complementation Group Q 33
593 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
594 SML011 Smoldering Myeloma 32
595 c HRD146 Hereditary Methemoglobinemia 32
596 c SPH017 Spherocytosis, Type 5 31
597 c LKM005 Leukemia, T-Cell, Chronic 31
598 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
599 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 31
600 c LYM106 Lymphoproliferative Syndrome 1 31
601 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
602 PLM007 Pulmonary Aspergilloma 30
603 FLC001 Folic Acid Deficiency Anemia 30
604 CRY019 Cryohydrocytosis 30
605 HDG004 Hodgkin's Granuloma 30
606 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 30
607 c ACQ027 Acquired Cutis Laxa 30
608 PHS014 Phosphoglycerate Kinase 1 Deficiency 30
609 BMB001 Bombay Phenotype 30
610 NNS003 Non-Secretory Myeloma 30
611 c CNG020 Congenital Hypogammaglobulinemia 30
612 TKN001 Takenouchi-Kosaki Syndrome 30
613 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
614 GLT005 Glutamate Formiminotransferase Deficiency 29
615 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
616 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
617 RHS001 Rh Isoimmunization 29
618 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
619 ACD001 Acidophil Adenoma 29
620 c GCH013 Gaucher Disease, Type Iiic 29
621 CRT005 Cortical Thymoma 29
622 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
623 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 28
624 c MLG144 Malignant Hemangioma 28
625 PYR009 Pyridoxine Deficiency Anemia 28
626 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 28
627 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 28
628 ANH003 Anhaptoglobinemia 27
629 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
630 c PSD107 Pseudo-Torch Syndrome 2 27
631 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
632 c ERY065 Erythrocytosis, Familial, 7 26
633 c DMN017 Diamond-Blackfan Anemia 10 26
634 HMP028 Hemophagocytic Syndrome Associated with an Infection 26
635 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
636 RFR007 Refractory Anemia with Excess Blasts in Transformation 26
637 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
638 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
639 c LYM151 Lymphoproliferative Syndrome 3 25
640 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 25
641 CYN002 Cyanosis, Transient Neonatal 25
642 c DMN022 Diamond-Blackfan Anemia 9 25
643 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 25
644 c SBC004 Subacute Myeloid Leukemia 24
645 c ELL010 Elliptocytosis 1 24
646 DND003 Dendritic Cell Thymoma 24
647 c CRN214 Coronary Heart Disease 5 24
648 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
649 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
650 IND003 Indolent Myeloma 24
651 c DMN019 Diamond-Blackfan Anemia 4 23
652 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
653 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
654 c DMN024 Diamond-Blackfan Anemia 7 23
655 CMP041 Complement Factor D Deficiency 23
656 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
657 c DMN018 Diamond-Blackfan Anemia 5 23
658 c MCR161 Macroglobulinemia, Waldenstrom 1 23
659 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 23
660 HDG006 Hodgkin's Paragranuloma 22
661 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 22
662 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 22
663 c FNC061 Fanconi Anemia, Complementation Group W 22
664 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
665 c DMN029 Diamond-Blackfan Anemia 11 22
666 P TRC034 Torch Syndrome 22
667 c DMN006 Diamond-Blackfan Anemia 3 22
668 c DMN005 Diamond-Blackfan Anemia 2 22
669 P SLF001 Sulfhemoglobinemia 22
670 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
671 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 22
672 RFM002 Roifman-Chitayat Syndrome 22
673 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
674 c ATP003 Atp6v0a2-Related Cutis Laxa 21
675 c ERY067 Erythrocytosis, Familial, 8 21
676 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
677 LFF002 Loeffler Syndrome 21
678 c DMN020 Diamond-Blackfan Anemia 8 21
679 FCT032 Factor Xiii, a Subunit, Deficiency of 21
680 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
681 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 21
682 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
683 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 21
684 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 21
685 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
686 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
687 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 21
688 ATM069 Autoimmune Hemolytic Anemia, Warm Type 20
689 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
690 c DMN028 Diamond-Blackfan Anemia 12 20
691 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 20
692 FCT033 Factor Xiii, B Subunit, Deficiency of 20
693 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 20
694 P PRC045 Preeclampsia/eclampsia 5 20
695 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 20
696 c ACQ004 Acquired Hemangioma 20
697 c PRM150 Primary Localized Amyloidosis 19
698 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 19
699 HVY003 Heavy Chain Deposition Disease 19
700 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 19
701 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 19
702 PRT025 Protein-Deficiency Anemia 19
703 c CRN304 Coronary Artery Disease, Autosomal Dominant 2 19
704 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 18
705 LGH014 Light and Heavy Chain Deposition Disease 18
706 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
707 DSS003 Disseminated Eosinophilic Collagen Disease 18
708 c ERY031 Erythrocytosis, Familial, 3 18
709 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 18
710 c PRC034 Preeclampsia/eclampsia 4 18
711 c LKM050 Leukemia, Chronic Lymphocytic 1 18
712 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
713 TLN012 Telangiectasia Macularis Eruptiva Perstans 17
714 CTR107 Cataract 13 with Adult I Phenotype 17
715 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 17
716 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 17
717 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 17
718 c LKM051 Leukemia, Chronic Lymphocytic 3 17
719 CGL001 Coagulation Protein Disease 17
720 c CNG121 Congenital Pulmonary Alveolar Proteinosis 17
721 c CRN174 Coronary Heart Disease 2 17
722 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 17
723 c ERY032 Erythrocytosis, Familial, 4 17
724 c AHM002 Ah Amyloidosis 17
725 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 16
726 c SCN051 Secondary Pulmonary Alveolar Proteinosis 16
727 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 16
728 c ERY063 Erythrocytosis, Familial, 5 16
729 ISL085 Isolated Agammaglobulinemia 16
730 c LKM052 Leukemia, Chronic Lymphocytic 5 16
731 c LTB003 Ltbp4-Related Cutis Laxa 16
732 ARG006 Aregenerative Anemia 16
733 HYP765 Hyperbilirubinemia, Shunt, Primary 16
734 STR007 Stress Polycythemia 15
735 c PTN012 Patent Ductus Arteriosus 3 15
736 LFR008 L-Ferritin Deficiency 15
737 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 15
738 HYP018 Hyperglobulinemic Purpura 15
739 NNT054 Neonatal Alloimmune Neutropenia 15
740 c PTN013 Patent Ductus Arteriosus 2 15
741 c CNG336 Congenital Analbuminemia 15
742 TRN017 Transient Neonatal Neutropenia 14
743 c RFR015 Refractory Anemia with Excess Blasts Type 1 14
744 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 14
745 c EFM001 Efemp2-Related Cutis Laxa 14
746 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 14
747 c PSD023 Pseudo-Gaucher Disease 14
748 ISL033 Isolated Delta-Storage Pool Disease 14
749 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
750 P RFR014 Refractory Anemia with Excess Blasts Type 2 13
751 LCL017 Localized Pagetoid Reticulosis 13
752 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
753 c ERY064 Erythrocytosis, Familial, 6 12
754 c CRN177 Coronary Heart Disease 7 12
755 c MCR162 Macroglobulinemia, Waldenstrom 2 12
756 LTH044 Lutheran Null 12
757 c LKM053 Leukemia, Chronic Lymphocytic 4 12
758 BLD072 Bleeding Disorder, East Texas Type 11
759 c CRN178 Coronary Heart Disease 6 11
760 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
761 c CRN173 Coronary Heart Disease 8 10
762 c CRN175 Coronary Heart Disease 4 10
763 c SCN042 Secondary Hypereosinophilic Syndrome 10
764 c PRC033 Preeclampsia/eclampsia 3 10
765 c PRC032 Preeclampsia/eclampsia 2 10
766 c HMN023 Human T-Cell Leukemia Virus Type 3 10
767 SML030 Smouldering Systemic Mastocytosis 10
768 c CNG346 Congenital Aortic Valve Insufficiency 10
769 CVR003 Cavernous Hemangioma of Face 10
770 c CRN176 Coronary Heart Disease 9 9
771 c CRN172 Coronary Heart Disease 3 9
772 c KRN003 Kernicterus Due to Isoimmunization 9
773 DCN001 Dic in Newborn 9
774 c SLF013 Sulfhemoglobinemia, Congenital 9
775 c FBL003 Fbln5-Related Cutis Laxa 8
776 SMP006 Simple Cryoglobulinemia 8
777 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 8
778 NDL018 Nodular Urticaria Pigmentosa 8
779 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
780 CHR058 Chronic Congestive Splenomegaly 7
781 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 7
782 PDT039 Pediatric Castleman Disease 7
783 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 7
784 CVR005 Cavernous Hemangioma of Orbit 7
785 c EPB003 Epb42-Related Hereditary Spherocytosis 6
786 SLT002 Solitary Plasmacytoma of Chest Wall 6
787 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
788 c SSC054 Susceptibility to Localized Juvenile Periodontitis 6
789 PLY128 Polyclonal Hyperviscosity Syndrome 6
790 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 6
791 PLQ001 Plaque-Form Urticaria Pigmentosa 6
792 TYP022 Typical Urticaria Pigmentosa 6
793 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 6
794 CHR062 Chronic Erythremia 5
795 UNC008 Unclassified Myelodysplastic Syndrome 5
796 EXT049 Extramedullary Soft Tissue Plasmacytoma 5
797 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 4
798 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 4
799 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 4
800 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 4
801 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 4
802 PRT104 Protein S Acquired Deficiency 4
803 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 4
804 PHY001 Physiological Polycythemia 4
805 DHY001 Dehydration Polycythemia 3
806 MND006 Mondor Disease 19
807 FCT007 Factor Vii Deficiency 61
808 MTH064 Methemoglobinemia, Beta-Globin Type 35
809 c NNS007 Nonsyndromic Deafness 49
810 c DFN200 Deafness, Autosomal Dominant 17 42
811 c DFN141 Deafness, Autosomal Recessive 12 42
812 c DFN107 Deafness, Autosomal Dominant 10 42
813 c DFN351 Deafness, Autosomal Dominant 6 41
814 c DFN250 Deafness, Autosomal Recessive 2 40
815 c DFN197 Deafness, Autosomal Recessive 37 40
816 c DFN203 Deafness, Autosomal Recessive 30 40
817 c DFN251 Deafness, Autosomal Dominant 11 39
818 c DFN202 Deafness, Autosomal Dominant 48 39
819 c DFN196 Deafness, Autosomal Dominant 22 39
820 c DFN117 Deafness, Autosomal Dominant 15 39
821 c DFN136 Deafness, Autosomal Dominant 9 38
822 c DFN354 Deafness, Autosomal Dominant 20 38
823 c DFN130 Deafness, Autosomal Recessive 21 37
824 c DFN097 Deafness, Autosomal Recessive 1a 37
825 c DFN168 Deafness, Autosomal Recessive 26 37
826 c DFN353 Deafness, Autosomal Dominant 12 37
827 c DFN092 Deafness, Autosomal Recessive 49 37
828 c DFN143 Deafness, Autosomal Recessive 16 36
829 c DFN137 Deafness, Autosomal Dominant 13 36
830 c DFN201 Deafness, Autosomal Recessive 3 35
831 c DFN124 Deafness, Autosomal Recessive 6 35
832 c DFN131 Deafness, Autosomal Dominant 1 35
833 c DFN094 Deafness, Autosomal Dominant 28 34
834 c DFN120 Deafness, Autosomal Recessive 39 34
835 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
836 c DFN252 Deafness, Autosomal Recessive 24 34
837 c DFN190 Deafness, Autosomal Dominant 2a 34
838 c DFN189 Deafness, Autosomal Dominant 25 34
839 c DFN093 Deafness, Autosomal Recessive 23 33
840 c DFN192 Deafness, Autosomal Dominant 23 33
841 c DFN330 Deafness, Autosomal Recessive 97 33
842 c DFN360 Deafness, Autosomal Dominant 69 33
843 c DFN184 Deafness, Autosomal Recessive 85 33
844 c DFN133 Deafness, Autosomal Recessive 9 32
845 c DFN249 Deafness, Autosomal Recessive 93 32
846 c DFN128 Deafness, Autosomal Dominant 36 32
847 c DFN095 Deafness, Autosomal Recessive 25 32
848 c DFN114 Deafness, Autosomal Recessive 67 32
849 c DFN183 Deafness, Autosomal Recessive 83 31
850 c DFN121 Deafness, Autosomal Recessive 28 31
851 c DFN260 Deafness, Autosomal Recessive 89 31
852 c DFN148 Deafness, Autosomal Dominant 16 31
853 c DFN151 Deafness, Autosomal Dominant 24 31
854 c DFN352 Deafness, Autosomal Recessive 8 31
855 c DFN029 Deafness, Autosomal Recessive 51 31
856 c DFN123 Deafness, Autosomal Recessive 79 30
857 c DFN269 Deafness, Autosomal Recessive 98 30
858 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
859 c DFN240 Deafness, Autosomal Recessive 96 29
860 c DFN171 Deafness, Autosomal Recessive 33 29
861 c DFN258 Deafness, Autosomal Recessive 48 29
862 c DFN127 Deafness, Autosomal Recessive 7 29
863 c DFN118 Deafness, Autosomal Dominant 44 29
864 c DFN139 Deafness, Autosomal Recessive 29 29
865 c DFN159 Deafness, Autosomal Dominant 5 29
866 c DFN116 Deafness, Autosomal Recessive 74 28
867 c DFN244 Deafness, Autosomal Recessive 42 28
868 c DFN160 Deafness, Autosomal Dominant 52 28
869 c DFN246 Deafness, Autosomal Dominant 51 28
870 c DFN098 Deafness, Autosomal Dominant 3a 28
871 c DFN119 Deafness, Autosomal Dominant 50 27
872 c DFN150 Deafness, Autosomal Dominant 21 27
873 c DFN154 Deafness, Autosomal Dominant 31 27
874 c DFN178 Deafness, Autosomal Recessive 59 27
875 c DFN262 Deafness, Autosomal Recessive 15 27
876 c DFN181 Deafness, Autosomal Recessive 66 27
877 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
878 c DFN111 Deafness, Autosomal Recessive 35 27
879 c DFN108 Deafness, Autosomal Recessive 77 26
880 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
881 c DFN112 Deafness, Autosomal Recessive 63 26
882 c DFN248 Deafness, Autosomal Recessive 18b 26
883 c DFN280 Deafness, Autosomal Recessive 25
884 c DFN170 Deafness, Autosomal Recessive 31 25
885 c DFN284 Deafness, Autosomal Dominant 67 25
886 c DFN253 Deafness, Autosomal Recessive 84a 25
887 c DFN272 Deafness, Autosomal Dominant 54 24
888 c DFN357 Deafness, Autosomal Recessive 47 24
889 c DFN138 Deafness, Autosomal Recessive 53 24
890 c DFN103 Deafness, Autosomal Recessive 1b 24
891 c DFN263 Deafness, Autosomal Recessive 68 24
892 c DFN155 Deafness, Autosomal Dominant 41 24
893 c DFN247 Deafness, Autosomal Recessive 18a 23
894 c DFN177 Deafness, Autosomal Recessive 5 23
895 c DFN266 Deafness, Autosomal Dominant 4b 23
896 c DFN163 Deafness, Autosomal Dominant 7 22
897 c DFN156 Deafness, Autosomal Dominant 43 22
898 c DFN243 Deafness, Autosomal Recessive 88 22
899 c DFN173 Deafness, Autosomal Recessive 40 22
900 c DFN161 Deafness, Autosomal Dominant 53 22
901 c DFN167 Deafness, Autosomal Recessive 20 22
902 c DFN158 Deafness, Autosomal Dominant 49 22
903 c DFN259 Deafness, Autosomal Recessive 86 22
904 c DFN166 Deafness, Autosomal Recessive 17 22
905 c DFN261 Deafness, Autosomal Recessive 46 21
906 c DFN180 Deafness, Autosomal Recessive 65 21
907 c DFN271 Deafness, Autosomal Dominant 58 21
908 c DFN257 Deafness, Autosomal Dominant 33 21
909 c DFN164 Deafness, Autosomal Recessive 13 21
910 c DFN162 Deafness, Autosomal Dominant 59 21
911 c DFN281 Deafness, Autosomal Recessive 103 21
912 c DFN099 Deafness, Autosomal Dominant 2b 21
913 c DFN255 Deafness, Autosomal Dominant 64 21
914 c DFN267 Deafness, Autosomal Dominant 4a 20
915 c DFN254 Deafness, Autosomal Recessive 84b 20
916 c DFN169 Deafness, Autosomal Recessive 27 20
917 c DFN149 Deafness, Autosomal Dominant 18 20
918 c DFN172 Deafness, Autosomal Recessive 38 20
919 c DFN188 Deafness, Autosomal Recessive 61 20
920 c DFN132 Deafness, Autosomal Recessive 22 20
921 c DFN364 Deafness, Autosomal Recessive 57 20
922 c DFN333 Deafness, Autosomal Dominant 73 20
923 c DFN265 Deafness, Autosomal Recessive 76 20
924 c DFN328 Deafness, Autosomal Dominant 72 20
925 c DFN367 Deafness, Autosomal Recessive 110 20
926 c DFN329 Deafness, Autosomal Dominant 66 19
927 c DFN273 Deafness, Autosomal Recessive 101 19
928 c DFN165 Deafness, Autosomal Recessive 14 19
929 c DFN277 Deafness, Autosomal Recessive 102 19
930 c DFN179 Deafness, Autosomal Recessive 62 19
931 c DFN182 Deafness, Autosomal Recessive 71 19
932 c DFN157 Deafness, Autosomal Dominant 47 19
933 c DFN153 Deafness, Autosomal Dominant 30 19
934 c DFN242 Deafness, Autosomal Recessive 70 19
935 c DFN283 Deafness, Autosomal Recessive 104 19
936 c DFN030 Deafness, Autosomal Recessive 55 19
937 c DFN134 Deafness, Autosomal Dominant 40 19
938 c DFN174 Deafness, Autosomal Recessive 44 19
939 c DFN325 Deafness, Autosomal Recessive 108 19
940 c DFN135 Deafness, Autosomal Recessive 91 19
941 c DFN175 Deafness, Autosomal Recessive 45 19
942 c DFN274 Deafness, Autosomal Dominant 56 19
943 c DFN361 Deafness, Autosomal Recessive 106 19
944 c DFN327 Deafness, Autosomal Dominant 70 19
945 c DFN152 Deafness, Autosomal Dominant 27 19
946 c DFN278 Deafness, Autosomal Dominant 65 19
947 c DFN102 Deafness, Autosomal Dominant 3b 18
948 c DFN365 Deafness, Autosomal Recessive 109 18
949 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 18
950 c DFN335 Deafness, Autosomal Dominant 71 18
951 c DFN369 Deafness, Autosomal Recessive 111 17
952 P FML056 Familial Deafness 17
953 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 17
954 c DFN337 Deafness, Autosomal Recessive 107 17
955 c DFN336 Deafness, Autosomal Dominant 68 17
956 c DFN368 Deafness, Autosomal Dominant 74 17
957 c OTF001 Otof-Related Deafness 15
958 c DFN371 Deafness, Autosomal Recessive 112 15
959 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 9
960 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 9
961 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 9
962 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 9
963 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 9
964 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 9
965 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 9
966 RTC002 Reticular Dysgenesis 54
967 c HMG029 Hemoglobin Se Disease 24
968 c HMP004 Hemophilia B 67
969 BRG013 Buerger Disease 61
970 FCT002 Factor Xi Deficiency 63
971 MCL009 Mcleod Syndrome 48
972 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 41
973 BDD001 Budd-Chiari Syndrome 60
974 P HML001 Hemolytic-Uremic Syndrome 55
975 c HRM017 Hermansky-Pudlak Syndrome 2 52
976 LMR001 Lemierre's Syndrome 49
977 EVN001 Evans' Syndrome 48
978 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
979 P HRM001 Hermansky-Pudlak Syndrome 64
980 CMR002 Coumarin Resistance 48
981 GLT018 Glut1 Deficiency Syndrome 1 39
982 STR067 Stroke, Ischemic 84
983 MYL031 Myeloproliferative Neoplasm 64
984 P ANT006 Antiphospholipid Syndrome 60
985 URN003 Urinary Schistosomiasis 50
986 SBL008 Sea-Blue Histiocyte Disease 49
987 JCB001 Jacobsen Syndrome 49
988 P DYS026 Dysfibrinogenemia 47
989 IVC001 Ivic Syndrome 29
990 c ANT041 Antiphospholipid Syndrome, Familial 26
991 HMT019 Hematohidrosis 13
992 KTZ001 Kotzot-Richter Syndrome 8
993 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 8
994 P PLM037 Pulmonary Hypertension 77
995 c HMP029 Hemophilia a 70
996 VRC005 Varicose Veins 67
997 CHR635 Chromosome 5q Deletion Syndrome 53
998 CRB138 Core Binding Factor Acute Myeloid Leukemia 48
999 c ACQ017 Acquired Von Willebrand Syndrome 45
1000 CTS005 Catastrophic Antiphospholipid Syndrome 45
1001 CYT019 Cytogenetically Normal Acute Myeloid Leukemia 35
1002 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 32
1003 c PLM127 Pulmonary Hypertension, Primary, 3 26
1004 c PLM121 Pulmonary Hypertension, Primary, 4 25
1005 c PLM128 Pulmonary Hypertension, Primary, 2 24
1006 HMG009 Hemoglobin Zurich 21
1007 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 14
1008 c DNG003 Dengue Disease 67
1009 P DNG005 Dengue Virus 64
1010 PRP001 Propionic Acidemia 61
1011 P HRD011 Hereditary Spherocytosis 58
1012 P PRR002 Pure Red-Cell Aplasia 52
1013 ARG007 Argininemia 52
1014 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 46
1015 VSC008 Vascular Hemostatic Disease 45
1016 CLP006 Clopidogrel Resistance 45
1017 PLS030 Plasminogen Deficiency, Type I 39
1018 c DYS165 Dysfibrinogenemia, Congenital 37
1019 P HYP769 Hyperlysinemia, Type I 36
1020 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 22
1021 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
1022 c CHR089 Chronic Kidney Failure 73
1023 PRP027 Peripheral Vascular Disease 72
1024 P TTR001 Tetralogy of Fallot 71
1025 ANG054 Angina Pectoris 70
1026 LNG099 Lung Disease 70
1027 P CRD119 Cardiac Arrest 66
1028 P PRT008 Proteus Syndrome 65
1029 HYP020 Hyperprolactinemia 64
1030 LKC009 Leukocyte Adhesion Deficiency, Type I 61
1031 IRN002 Iron Metabolism Disease 60
1032 P INT030 Intracranial Aneurysm 60
1033 PYR041 Pyruvate Kinase Deficiency of Red Cells 59
1034 TRN015 Transient Cerebral Ischemia 59
1035 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58
1036 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 58
1037 LYM027 Lymphopenia 57
1038 P CRD246 Cardiovascular System Disease 57
1039 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
1040 P LDD007 Liddle Syndrome 1 55
1041 c ACT071 Acute Kidney Failure 54
1042 MNC006 Monoclonal Gammopathy of Uncertain Significance 54
1043 c FML001 Familial Atrial Fibrillation 53
1044 CLC001 Calciphylaxis 53
1045 c ACQ014 Acquired Hemophilia 52
1046 CVR006 Cavernous Hemangioma 52
1047 BBS001 Babesiosis 52
1048 FCT004 Factor Xii Deficiency 51
1049 CRY004 Cryoglobulinemia 50
1050 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 49
1051 FCT005 Factor Xiii Deficiency 49
1052 HPT025 Hepatic Lipase Deficiency 47
1053 c ACQ042 Acquired Hemophilia a 44
1054 c PST106 Post-Cardiac Arrest Syndrome 33
1055 CRN270 Coronary Artery Dissection, Spontaneous 27
1056 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
1057 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 25
1058 c PRT063 Proteus-Like Syndrome 25
1059 c ATR026 Atrial Fibrillation, Familial, 1 21
1060 PRT112 Portal Hypertension, Noncirrhotic 21
1061 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 20
1062 c ATR072 Atrial Fibrillation, Familial, 13 20
1063 c ATR039 Atrial Fibrillation, Familial, 4 19
1064 c ATM013 Autoimmune Disease of Cardiovascular System 19
1065 MTH081 Mthfr Gene Variant 19
1066 c ATR035 Atrial Fibrillation, Familial, 6 19
1067 c ATR061 Atrial Fibrillation, Familial, 10 19
1068 c ATR059 Atrial Fibrillation, Familial, 11 19
1069 c ATR069 Atrial Fibrillation, Familial, 12 19
1070 c ATR037 Atrial Fibrillation, Familial, 7 18
1071 c ATR068 Atrial Fibrillation, Familial, 14 18
1072 c ATR038 Atrial Fibrillation, Familial, 3 17
1073 ANG063 Angiolipomatosis, Familial 16
1074 c ATR070 Atrial Fibrillation, Familial, 9 16
1075 c ATR027 Atrial Fibrillation, Familial, 5 15
1076 c ATR025 Atrial Fibrillation, Familial, 2 14
1077 P STM009 Stomatocytosis I 13
1078 c LDD009 Liddle Syndrome 3 13
1079 c LDD008 Liddle Syndrome 2 13
1080 c ATR028 Atrial Fibrillation, Familial, 8 13
1081 c RNL016 Renal Infectious Disease 11
1082 FYP001 Faye-Petersen-Ward-Carey Syndrome 9
1083 c RNR002 Ren-Related Kidney Disease 9
1084 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
1085 HML017 Hemolytic Uremic Syndrome, Atypical, Childhood 6
1086 TSY001 Tau Syndrome 4
1087 c STM013 Stomatocytosis Ii 3
1088 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 3
1089 P RHM011 Rheumatoid Arthritis 82
1090 ULC004 Ulcerative Colitis 80
1091 P LVR013 Liver Disease 77
1092 c JVN010 Juvenile Rheumatoid Arthritis 72
1093 P GRF003 Graft-Versus-Host Disease 72
1094 P KDN018 Kidney Disease 71
1095 P FLL037 Follicular Lymphoma 71
1096 c ART115 Aortic Valve Disease 1 70
1097 P PLM036 Pulmonary Fibrosis 70
1098 P ATR011 Atrial Fibrillation 69
1099 c ART101 Aortic Valve Disease 2 68
1100 OST003 Osteonecrosis 67
1101 TKY002 Takayasu Arteritis 67
1102 c CHR417 Chronic Graft Versus Host Disease 67
1103 c GLY008 Glycogen Storage Disease Ii 67
1104 c MCL062 Mucolipidosis Ii Alpha/beta 65
1105 P TXP001 Toxoplasmosis 65
1106 c CNG411 Congenital Disorder of Glycosylation, Type in 65
1107 c GLY060 Glycogen Storage Disease Ia 62
1108 PLS011 Plasmacytoma 62
1109 P BRG001 Brugada Syndrome 62
1110 c GLY003 Glycogen Storage Disease Iii 62
1111 DBT084 Diabetes Mellitus, Ketosis-Prone 62
1112 P GLM007 Glomerulonephritis 62
1113 P GLY013 Glycogen Storage Disease 62
1114 CYT008 Cytomegalovirus Infection 61
1115 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 61
1116 CHK001 Chikungunya 61
1117 P MLG056 Malignant Hyperthermia 60
1118 P WLF004 Wolfram Syndrome 60
1119 DBT010 Diabetic Neuropathy 60
1120 NTR005 Nutritional Deficiency Disease 60
1121 PTN001 Patent Foramen Ovale 59
1122 c MCL013 Mucolipidosis Iv 59
1123 P NPH012 Nephrotic Syndrome 59
1124 PLC005 Placental Insufficiency 58
1125 c ACT135 Acute Graft Versus Host Disease 58
1126 BLD044 Bladder Disease 57
1127 c LKM070 Leukemia, Acute Monocytic 57
1128 INF034 Infective Endocarditis 57
1129 c PSD108 Pseudohypoparathyroidism, Type Ia 57
1130 P MNC007 Monocytic Leukemia 57
1131 c GLY005 Glycogen Storage Disease Vi 57
1132 c CNG021 Congenital Toxoplasmosis 57
1133 c MCL046 Mucolipidosis Iii Alpha/beta 56
1134 P CTN015 Cutaneous T Cell Lymphoma 56
1135 RTC009 Reticulum Cell Sarcoma 55
1136 CTR172 Citrullinemia, Classic 55
1137 c GLY004 Glycogen Storage Disease V 55
1138 P LYM025 Lymphedema 55
1139 NPH091 Nephrolithiasis, Calcium Oxalate 54
1140 c WLF013 Wolfram Syndrome 1 54
1141 c PSD066 Pseudohypoparathyroidism, Type Ib 54
1142 FDL002 Food Allergy 54
1143 ATN002 Autonomic Nervous System Disease 54
1144 ATY042 Atypical Chronic Myeloid Leukemia 53
1145 BLR008 Bilirubin Metabolic Disorder 53
1146 c ACT134 Acute Liver Failure 53
1147 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1148 CHR563 Chronic Eosinophilic Leukemia 53
1149 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 53
1150 ESN015 Eosinophilic Fasciitis 53
1151 c GLY007 Glycogen Storage Disease Iv 52
1152 LG4001 Lig4 Syndrome 52
1153 P MGL001 Megaloblastic Anemia 52
1154 c CHR418 Chronic Leukemia 52
1155 GRN017 Granulocytopenia 52
1156 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 52
1157 P PSD015 Pseudohypoparathyroidism 51
1158 CNG028 Congenital Hypoplastic Anemia 51
1159 INT017 Intestinal Schistosomiasis 50
1160 SPL004 Splenic Marginal Zone Lymphoma 50
1161 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
1162 OBS037 Obesity-Hypoventilation Syndrome 50
1163 P AFB001 Afibrinogenemia 50
1164 CTS011 Cutis Marmorata Telangiectatica Congenita 50
1165 HYP088 Hyper-Igd Syndrome 49
1166 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 49
1167 PRL017 Prolymphocytic Leukemia 49
1168 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 49
1169 HYP063 Hypersplenism 49
1170 HYP081 Hypolipoproteinemia 49
1171 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 49
1172 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
1173 P DYS021 Dysautonomia 49
1174 MYD002 Myd88 Deficiency 48
1175 INT054 Intraocular Lymphoma 48
1176 SPL012 Splenic Disease 48
1177 c INF145 Infantile Liver Failure Syndrome 1 48
1178 MCR225 Macrophage Activation Syndrome 48
1179 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1180 c NPH055 Nephrotic Syndrome, Type 1 47
1181 RDD003 Riddle Syndrome 47
1182 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1183 PRP056 Porphyria, Acute Hepatic 47
1184 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 47
1185 AGG002 Aggressive Systemic Mastocytosis 47
1186 P PSD003 Pseudohypoaldosteronism 46
1187 c MGL018 Megaloblastic Anemia 1 46
1188 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 46
1189 FLL013 Follicular Dendritic Cell Sarcoma 46
1190 P MCL001 Mucolipidosis 46
1191 MST002 Mast-Cell Leukemia 46
1192 c FNC024 Fanconi Anemia, Complementation Group D1 45
1193 RTN021 Retinal Vascular Occlusion 45
1194 c FLL041 Follicular Lymphoma 1 45
1195 ZKF001 Zika Fever 45
1196 CMP004 Complement Factor I Deficiency 44
1197 INT038 Interdigitating Dendritic Cell Sarcoma 43
1198 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 43
1199 THY009 Thyroid Lymphoma 43
1200 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
1201 ATN011 Autoinflammation with Infantile Enterocolitis 43
1202 NDL024 Nodal Marginal Zone Lymphoma 43
1203 IMM184 Immunodeficiency 17 43
1204 MST004 Mast Cell Neoplasm 42
1205 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 42
1206 c FML015 Familial Nephrotic Syndrome 42
1207 P PRM293 Primary Mediastinal B-Cell Lymphoma 42
1208 BCL002 B Cell Deficiency 42
1209 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
1210 BLR027 Blue Rubber Bleb Nevus 42
1211 EXT007 Extracutaneous Mastocytoma 41
1212 CRD137 Cardiogenic Shock 41
1213 c BRG005 Brugada Syndrome 1 41
1214 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
1215 MYL013 Myeloperoxidase Deficiency 41
1216 ALD013 Aldosterone-Producing Adenoma 41
1217 GDS001 Good Syndrome 41
1218 c MCL016 Mucolipidosis Iii Gamma 41
1219 c PSD117 Pseudohypoparathyroidism, Type Ic 41
1220 HYP801 Hyperferritinemia with or Without Cataract 41
1221 HYP236 Hyperbilirubinemia, Rotor Type 41
1222 SLT001 Solitary Osseous Plasmacytoma 40
1223 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 40
1224 c GLY098 Glycogen Storage Disease, Type Ixd 40
1225 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 40
1226 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
1227 CVR010 Cavernous Malformation 40
1228 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 40
1229 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
1230 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
1231 CMP042 Complement Factor H Deficiency 40
1232 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
1233 SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 40
1234 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
1235 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 40
1236 c HRD007 Hereditary Lymphedema 39
1237 c CNG439 Congenital Lymphedema 39
1238 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
1239 c MLG147 Malignant Hyperthermia 1 39
1240 c GLY023 Glycogen Storage Disease Type 0 39
1241 FTL004 Fetal Erythroblastosis 39
1242 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
1243 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 38
1244 PHS009 Phosphoglycerate Kinase Deficiency 38
1245 HMP018 Hemophilic Arthropathy 38
1246 HNZ004 Heinz Body Anemias 38
1247 c NPH049 Nephrotic Syndrome, Type 2 38
1248 MST001 Mast-Cell Sarcoma 38
1249 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 38
1250 c ATM045 Autoimmune Glomerulonephritis 38
1251 c MNS014 Monosomy 22 38
1252 INT221 Intravascular Large B-Cell Lymphoma 38
1253 c GLY044 Glycogen Storage Disease Ixc 38
1254 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
1255 HYP223 Hypoplastic Right Heart Syndrome 37
1256 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
1257 SHW001 Shwartzman Phenomenon 37
1258 PDT001 Pediatric Lymphoma 37
1259 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
1260 c GLY016 Glycogen Storage Disease Ib 36
1261 c NPH070 Nephrotic Syndrome, Type 6 36
1262 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 36
1263 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1264 MDS019 Mediastinal Malignant Lymphoma 36
1265 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 36
1266 OST008 Osteosclerotic Myeloma 36
1267 c ADL001 Adult Lymphoma 36
1268 INT020 Intravenous Leiomyomatosis 36
1269 PYR040 Pyropoikilocytosis, Hereditary 36
1270 AGM004 Agammaglobulinemia, Non-Bruton Type 36
1271 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
1272 NCT003 N-Acetylglutamate Synthase Deficiency 35
1273 WLD007 Waldenstroem's Macroglobulinemia 35
1274 c NPH054 Nephrotic Syndrome, Type 3 35
1275 OMS001 Omsk Hemorrhagic Fever 35
1276 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 35
1277 c WLF009 Wolfram Syndrome 2 35
1278 P HYP111 Hyperprolinemia 35
1279 c CHR064 Chronic Monocytic Leukemia 34
1280 RFR002 Refractory Hairy Cell Leukemia 34
1281 IMM070 Immunodeficiency 13 34
1282 c HRD202 Hereditary Lymphedema I 34
1283 CMP001 Composite Lymphoma 34
1284 CTN001 Cutaneous Solitary Mastocytoma 34
1285 RTN072 Retinohepatoendocrinologic Syndrome 33
1286 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 33
1287 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1288 c CNG379 Congenital Disorder of Glycosylation, Type It 33
1289 MYL074 Myelodysplastic Syndrome with Excess Blasts 33
1290 c PSD090 Pseudohypoaldosteronism, Type Iia 33
1291 LYM014 Lymphangitis 32
1292 ASP026 Asplenia, Isolated Congenital 32
1293 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
1294 MDS006 Mediastinal Gray Zone Lymphoma 32
1295 c HRD206 Hereditary Lymphedema Ii 32
1296 ALK003 Aleukemic Leukemia Cutis 32
1297 c BRG007 Brugada Syndrome 5 32
1298 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 32
1299 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 32
1300 LFF001 Loeffler Endocarditis 31
1301 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
1302 PRP038 Properdin Deficiency, X-Linked 31
1303 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 31
1304 ACT177 Acute Basophilic Leukemia 31
1305 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
1306 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 31
1307 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
1308 c EYL003 Eye Lymphoma 30
1309 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
1310 PLM049 Plummer Vinson Syndrome 30
1311 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 30
1312 c CNG188 Congenital Disorder of Glycosylation, Type if 30
1313 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
1314 NDL020 Nodal Marginal Zone B-Cell Lymphoma 30
1315 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
1316 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
1317 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
1318 NNT007 Neonatal Leukemia 29
1319 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1320 c GLY097 Glycogen Storage Disease Ixb 29
1321 c GLY017 Glycogen Storage Disease Ic 29
1322 c GLY009 Glycogen Storage Disease Xv 29
1323 HGH020 High Molecular Weight Kininogen Deficiency 28
1324 c GLY043 Glycogen Storage Disease Xii 28
1325 NTR011 Neutrophil-Specific Granule Deficiency 28
1326 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 28
1327 c GLY057 Glycogen Storage Disease X 28
1328 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
1329 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
1330 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 28
1331 c HYP248 Hyperprolinemia, Type I 27
1332 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 27
1333 c LVR030 Liver Failure, Infantile, Transient 27
1334 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
1335 c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 27
1336 MYL067 Myeloproliferative Disorder, Chronic, with Eosinophilia 27
1337 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
1338 HST008 Histiocytic and Dendritic Cell Cancer 27
1339 EPT007 Epithelial Malignant Thymoma 27
1340 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 27
1341 PRD001 Predominantly Cortical Thymoma 26
1342 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
1343 c GLY006 Glycogen Storage Disease Viii 26
1344 HST016 Histiocytic Sarcoma 26
1345 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 26
1346 c BRG006 Brugada Syndrome 2 26
1347 HSH001 Hashimoto-Pritzker Syndrome 26
1348 c PSD093 Pseudohypoaldosteronism, Type Iid 26
1349 IMM062 Immunodeficiency 11 26
1350 HYP648 Hypertension and Brachydactyly Syndrome 26
1351 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
1352 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
1353 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
1354 c NPH047 Nephrotic Syndrome, Type 4 25
1355 PRS002 Prostate Lymphoma 25
1356 CD8002 Cd8 Deficiency, Familial 25
1357 MNS002 Mini Stroke 25
1358 c NPH102 Nephrotic Syndrome, Type 14 25
1359 CLS052 Classic Hairy Cell Leukemia 25
1360 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1361 TMP008 Tempi Syndrome 25
1362 P PLM064 Pulmonary Sequestration 25
1363 NTR006 Neutrophil Immunodeficiency Syndrome 25
1364 IMM095 Immunodeficiency 35 24
1365 FCL083 Ficolin 3 Deficiency 24
1366 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
1367 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
1368 IMM120 Immunodeficiency 40 24
1369 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 24
1370 c ACQ016 Acquired Pure Red Cell Aplasia 24
1371 NSL004 Nasal Cavity Lymphoma 24
1372 PLS003 Plasmacytic Leukemia 24
1373 IMM143 Immunodeficiency 48 24
1374 HMC016 Homocystinuria Due to Cbs Deficiency 24
1375 c HYP597 Hyperprolinemia, Type Ii 23
1376 NTR036 Neutropenia, Severe Congenital, X-Linked 23
1377 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 23
1378 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 23
1379 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 23
1380 c NPH073 Nephrotic Syndrome, Type 8 23
1381 c GLY001 Glycogen Storage Disease Ix 23
1382 FBR023 Fibrinogen Deficiency, Congenital 22
1383 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 22
1384 c GLY059 Glycogen Storage Disease Xiii 22
1385 BRR004 Baroreflex Failure 22
1386 IMM068 Immunodeficiency 8 22
1387 c NPH074 Nephrotic Syndrome, Type 9 22
1388 c NPH103 Nephrotic Syndrome, Type 15 22
1389 P MNS011 Monosomy 9q22.3 22
1390 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
1391 c MLG148 Malignant Hyperthermia 2 22
1392 IMM190 Immunodeficiency 55 22
1393 c ADL093 Adult Acute Monocytic Leukemia 22
1394 IMM077 Immunodeficiency 20 22
1395 c NPH095 Nephrotic Syndrome, Type 11 22
1396 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1397 IMM117 Immunodeficiency by Defective Expression of Hla Class 1 22
1398 c MLG149 Malignant Hyperthermia 3 22
1399 c MNS008 Monosomy 21 21
1400 IMM191 Immunodeficiency 56 21
1401 IMM180 Immunodeficiency 28 21
1402 CRB087 Cerebral Arteriosclerosis 21
1403 c SBC010 Subacute Glomerulonephritis 21
1404 c INF138 Infantile Liver Failure Syndrome 2 21
1405 c BRG003 Brugada Syndrome 3 21
1406 TRC018 Tracheal Lymphoma 21
1407 IND009 Indeterminate Cell Histiocytosis 21
1408 c BRG012 Brugada Syndrome 9 21
1409 IMM142 Immunodeficiency 50 21
1410 IMM183 Immunodeficiency 32a 21
1411 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 21
1412 GLL013 Gallbladder Lymphoma 21
1413 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1414 EPS038 Episodic Angioedema with Eosinophilia 21
1415 c MLG150 Malignant Hyperthermia 4 21
1416 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1417 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 20
1418 c NPH096 Nephrotic Syndrome, Type 12 20
1419 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1420 IMM075 Immunodeficiency 22 20
1421 IMM134 Immunodeficiency, Common Variable, 13 20
1422 ACT176 Acute Panmyelosis with Myelofibrosis 20
1423 c BRG009 Brugada Syndrome 7 20
1424 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 20
1425 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 20
1426 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 20
1427 IMM071 Immunodeficiency 12 20
1428 c MLG151 Malignant Hyperthermia 5 20
1429 IMM079 Immunodeficiency, Common Variable, 11 20
1430 BSP001 Basophil Adenoma 20
1431 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 20
1432 ALK017 Alk-Positive Large B-Cell Lymphoma 20
1433 HHV001 Hhv-6 Encephalitis 20
1434 IMM150 Immunodeficiency 52 20
1435 MSP001 Masp2 Deficiency 19
1436 TCL022 T-Cell Receptor-Alpha/beta Deficiency 19
1437 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 19
1438 c NPH076 Nephrotic Syndrome, Type 10 19
1439 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 19
1440 c TRN053 Transient Pseudohypoaldosteronism 19
1441 IMM118 Immunodeficiency 42 19
1442 c BRG004 Brugada Syndrome 4 19
1443 IMM076 Immunodeficiency 24 19
1444 c PSD068 Pseudohypoaldosteronism, Type Iic 19
1445 c NPH104 Nephrotic Syndrome, Type 16 18
1446 IMM135 Immunodeficiency 46 18
1447 IMM186 Immunodeficiency 27b 18
1448 c PSD094 Pseudohypoaldosteronism, Type Iib 18
1449 c BRG010 Brugada Syndrome 8 18
1450 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
1451 c ATR092 Atrial Fibrillation, Familial, 15 18
1452 IMM181 Immunodeficiency 29 18
1453 c NPH093 Nephrotic Syndrome, Type 13 18
1454 IMM182 Immunodeficiency 31a 18
1455 c ATS229 Autosomal Recessive Lymphoproliferative Disease 18
1456 BND002 B- and T-Cell Mixed Leukemia 18
1457 P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 17
1458 THY006 Thymus Lymphoma 17
1459 c BRG008 Brugada Syndrome 6 17
1460 c ATR085 Atrial Fibrillation, Familial, 18 17
1461 c NPH105 Nephrotic Syndrome, Type 17 17
1462 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
1463 c NPH107 Nephrotic Syndrome, Type 19 17
1464 c NPH106 Nephrotic Syndrome, Type 18 16
1465 c GLY093 Glycogen Storage Disease Ixa 16
1466 c MLG152 Malignant Hyperthermia 6 16
1467 MNC020 Monoclonal Mast Cell Activation Syndrome 16
1468 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 16
1469 HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 16
1470 c PLM044 Pulmonary Fibrosis, Familial 16
1471 PRM133 Primary Pulmonary Lymphoma 16
1472 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1473 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 15
1474 HYD045 Hydroa Vacciniforme-Like Lymphoma 15
1475 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1476 c DYS194 Dysautonomia-Like Disorder 14
1477 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 13
1478 STR014 Sternum Lymphoma 13
1479 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 12
1480 ALK014 Aleukemic Mast Cell Leukemia 12
1481 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12
1482 APP002 Appendix Lymphoma 12
1483 RFR001 Refractory Plasma Cell Neoplasm 12
1484 ALP049 Alopecia Antibody Deficiency 12
1485 c SBC006 Subacute Leukemia 11
1486 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 11
1487 c SBC015 Subacute Monocytic Leukemia 11
1488 PRN002 Paranasal Sinus Lymphoma 11
1489 RCT002 Rectum Lymphoma 11
1490 c CNG257 Congenital Pulmonary Sequestration 10
1491 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 10
1492 CVR004 Cavernous Hemangioma of Colon 10
1493 ALK002 Aleukemic Monocytic Leukemia Cutis 10
1494 ACT179 Acute Myeloid Leukemia with 11q23 Abnormalities 10
1495 NKD001 Nik Deficiency 9
1496 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 9
1497 URT017 Ureteral Lymphoma 9
1498 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1499 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 8
1500 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 8
1501 CCM002 Cecum Lymphoma 8
1502 LYM117 Lymphocytic Hypereosinophilic Syndrome 8
1503 c HRD205 Hereditary Lymphedema Ib 8
1504 INT035 Intrapelvic Lymph Node Leukemic Reticuloendotheliosis 8
1505 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
1506 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1507 c HRD100 Hereditary Lymphedema Ic 7
1508 c HRD203 Hereditary Lymphedema Id 7
1509 c HRD204 Hereditary Lymphedema Ia 7
1510 c LCL003 Localized Pulmonary Fibrosis 6
1511 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 6
1512 SVR074 Severe Combined Immunodeficiency Due to Ikk2 Deficiency 6
1513 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1514 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
1515 ANS007 Anus Lymphoma 6
1516 PRM165 Primary Plasmacytoma of the Bone 6
1517 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 6
1518 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
1519 PRM142 Primary Oculocerebral Lymphoma 5
1520 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 5
1521 PRM148 Primary Lymphoma of the Conjunctiva 5
1522 CLS019 Classic Mast Cell Leukemia 5
1523 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
1524 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 5
1525 IMM197 Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome 4
1526 MTH001 Methotrexate-Associated Lymphoproliferation 4
1527 c FML317 Familial Monosomy 7 Syndrome 4
1528 ANT036 Anti-Hla Hyperimmunization 3
1529 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
1530 VSC006 Vascular Cancer 49
1531 HYD038 Hydrops Fetalis, Nonimmune 50
1532 ACT119 Acute Promyelocytic Leukemia 61
1533 TWN001 Twin-to-Twin Transfusion Syndrome 51
1534 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 35
1535 VSC007 Vascular Disease 72
1536 MGK001 Megakaryocytic Leukemia 64
1537 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 31
1538 SCH028 Schlegelberger Grote Syndrome 7
1539 MST024 Mastocytosis, Cutaneous 64
1540 THR013 Thoracic Outlet Syndrome 57
1541 LKC005 Leukocyte Adhesion Deficiency, Type Iii 54
1542 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
1543 CNN003 Conn's Syndrome 73
1544 P LYM118 Lymphoma 69
1545 P VSC011 Vasculitis 67
1546 c ART138 Aortic Aneurysm, Familial Abdominal, 1 66
1547 GTL001 Gitelman Syndrome 62
1548 MYL004 Myelodysplastic Myeloproliferative Cancer 54
1549 ATR002 Atransferrinemia 51
1550 CHR105 Choreoacanthocytosis 48
1551 IRN004 Iron-Refractory Iron Deficiency Anemia 42
1552 c ATM104 Autoimmune Vasculitis 35
1553 P FML305 Familial Abdominal Aortic Aneurysm 23
1554 c ART151 Aortic Aneurysm, Familial Abdominal, 2 12
1555 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
1556 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1557 P LNG032 Lung Cancer 99
1558 P HYP607 Hypercholesterolemia, Familial 82
1559 MLD001 Melioidosis 73
1560 P LKM002 Leukemia 72
1561 P RSP003 Respiratory Failure 72
1562 P BLD134 Bladder Cancer 71
1563 c JVN004 Juvenile Myelomonocytic Leukemia 70
1564 ART005 Arteriovenous Malformation 66
1565 PRT058 Pure Autonomic Failure 66
1566 P EHL001 Ehlers-Danlos Syndrome 62
1567 P CRG003 Crigler-Najjar Syndrome, Type I 60
1568 c SVR001 Severe Acute Respiratory Syndrome 60
1569 TRG002 Trigeminal Neuralgia 60
1570 SHG001 Shigellosis 59
1571 c TYR012 Tyrosinemia, Type I 56
1572 P HYP024 Hypoparathyroidism 56
1573 RBR001 Roberts Syndrome 56
1574 HYP074 Hypersensitivity Vasculitis 55
1575 c CRG004 Crigler-Najjar Syndrome, Type Ii 53
1576 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 53
1577 PRP009 Peripartum Cardiomyopathy 51
1578 NRL004 Neuroleptic Malignant Syndrome 51
1579 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 49
1580 P TYR004 Tyrosinemia 49
1581 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 48
1582 GLC011 Galactose Epimerase Deficiency 48
1583 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44
1584 c TYR011 Tyrosinemia, Type Iii 44
1585 PYR037 Pyruvate Carboxylase Deficiency 40
1586 c HYP396 Hypercholesterolemia, Autosomal Recessive 40
1587 c BLD008 Bladder Carcinoma in Situ 37
1588 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 34
1589 c ATM068 Autoimmune Hypoparathyroidism 30
1590 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 29
1591 MYT019 May-Thurner Syndrome 29
1592 BNM005 Bone Marrow Necrosis 28
1593 c EHL065 Ehlers-Danlos Syndrome, Type V 24
1594 c EHL090 Ehlers-Danlos Syndrome Type 7b 20
1595 c TYP003 Type I Ehlers-Danlos Syndrome 15
1596 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 12
1597 c LNG003 Lung Carcinoma in Situ 9
1598 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
1599 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
1600 P CLR023 Colorectal Cancer 99
1601 MNT001 Mantle Cell Lymphoma 75
1602 P FML018 Familial Mediterranean Fever 74
1603 LYM143 Lymphoma, Non-Hodgkin, Familial 74
1604 P AGM019 Agammaglobulinemia, X-Linked 73
1605 P LKM062 Leukemia, Acute Lymphoblastic 70
1606 P CHR012 Chronic Granulomatous Disease 70
1607 c SYS004 Systemic Mastocytosis 67
1608 CHR063 Chronic Mucocutaneous Candidiasis 66
1609 c ACT210 Acute Respiratory Distress Syndrome 66
1610 P LNG028 Long Qt Syndrome 65
1611 INT066 Interstitial Lung Disease 65
1612 P CHR285 Chronic Myelomonocytic Leukemia 65
1613 P ADL010 Adult Respiratory Distress Syndrome 64
1614 P MST009 Mastocytosis 64
1615 c LNG044 Long Qt Syndrome 1 64
1616 DPH001 Diphtheria 63
1617 P ACR001 Aicardi-Goutieres Syndrome 63
1618 SVR066 Severe Combined Immunodeficiency, X-Linked 63
1619 P PLY014 Polycystic Kidney Disease 63
1620 IMM174 Immunodeficiency with Hyper-Igm, Type 1 63
1621 LGG001 Legg-Calve-Perthes Disease 62
1622 c ACT073 Acute Leukemia 62
1623 DGR001 Digeorge Syndrome 62
1624 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
1625 P LYM031 Lymphocytic Leukemia 61
1626 RSC001 Rosacea 61
1627 P HYP370 Hypokalemic Periodic Paralysis, Type 1 61
1628 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1629 P ANP001 Anaplastic Large Cell Lymphoma 60
1630 P BRL012 Bare Lymphocyte Syndrome, Type Ii 60
1631 SPT004 Septic Arthritis 60
1632 CHL028 Childhood Type Dermatomyositis 59
1633 ART001 Arterial Tortuosity Syndrome 59
1634 PST046 Post-Transplant Lymphoproliferative Disease 59
1635 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
1636 PRM042 Primary Effusion Lymphoma 58
1637 ERY029 Erythermalgia, Primary 58
1638 MRG003 Marginal Zone B-Cell Lymphoma 58
1639 P CNT005 Central Nervous System Lymphoma 57
1640 PRP036 Peripheral T-Cell Lymphoma 57
1641 HYP052 Hyperkalemic Periodic Paralysis 55
1642 P ESN008 Eosinophilic Pneumonia 55
1643 PPL049 Papillon-Lefevre Syndrome 55
1644 CHR081 Choroideremia 55
1645 P FNC043 Fanconi Anemia, Complementation Group E 54
1646 CTS003 Coats Disease 54
1647 P PLG001 Pelger-Huet Anomaly 54
1648 PLS025 Plasmablastic Lymphoma 54
1649 MYL003 Myeloid Sarcoma 53
1650 SPR004 Supravalvular Aortic Stenosis 53
1651 FML026 Familial Lipoprotein Lipase Deficiency 53
1652 P FML052 Familial Cold Autoinflammatory Syndrome 53
1653 c LKM060 Leukemia, Acute Lymphoblastic 3 52
1654 ANG046 Angioimmunoblastic T-Cell Lymphoma 52
1655 FML089 Familial Thoracic Aortic Aneurysm and Dissection 52
1656 c LNG047 Long Qt Syndrome 2 52
1657 c PRM226 Primary Central Nervous System Lymphoma 52
1658 c GLY011 Glycogen Storage Disease Vii 52
1659 P RST002 Restrictive Cardiomyopathy 52
1660 LPD004 Lipoid Nephrosis 51
1661 CLD007 Cold Agglutinin Disease 51
1662 P RNL007 Renal Tubular Acidosis 51
1663 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 51
1664 CHL061 Childhood Leukemia 51
1665 RCH001 Richter's Syndrome 51
1666 GYR004 Gyrate Atrophy of Choroid and Retina 51
1667 SHH001 Sheehan Syndrome 51
1668 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
1669 CHR001 Churg-Strauss Syndrome 51
1670 HRP009 Herpes Simplex Encephalitis 50
1671 P PLY017 Polyarteritis Nodosa 50
1672 LYM051 Lymphomatoid Granulomatosis 50
1673 URC002 Urea Cycle Disorder 50
1674 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 50
1675 c CHR037 Chronic Eosinophilic Pneumonia 49
1676 IMM102 Immunodeficiency 14 49
1677 c LNG048 Long Qt Syndrome 3 49
1678 c GMM003 Gamma Heavy Chain Disease 49
1679 c ACR116 Aicardi-Goutieres Syndrome 1 48
1680 ACT200 Acute Monoblastic Leukemia 48
1681 AMB001 Amebiasis 48
1682 c PSR021 Psoriasis 14, Pustular 48
1683 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 48
1684 SPL018 Splenomegaly 48
1685 SBC012 Subcorneal Pustular Dermatosis 48
1686 TCL002 T-Cell Large Granular Lymphocyte Leukemia 48
1687 IMM104 Immunodeficiency with Hyper-Igm, Type 2 47
1688 P MTH008 Methylmalonic Acidemia 47
1689 IRK001 Irak4 Deficiency 47
1690 c MYL058 Myeloproliferative Syndrome, Transient 47
1691 CLL014 Cll/sll 46
1692 c ADL052 Adult Acute Lymphocytic Leukemia 46
1693 SML008 Small Intestine Lymphoma 45
1694 DPM001 Dopamine Beta-Hydroxylase Deficiency 45
1695 P PLM085 Pulmonary Hemosiderosis 45
1696 PLM068 Pulmonary Vein Stenosis 44
1697 LYM052 Lymphomatoid Papulosis 44
1698 CHR276 Chronic Active Epstein-Barr Virus Infection 44
1699 ERY051 Erythroleukemia, Familial 44
1700 P BCL005 B Cell Prolymphocytic Leukemia 44
1701 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 44
1702 c LNG050 Long Qt Syndrome 5 43
1703 ACT113 Acute Myeloblastic Leukemia with Maturation 43
1704 CRT046 Corticosteroid-Binding Globulin Deficiency 43
1705 PLS016 Plasma Cell Leukemia 43
1706 LVD003 Livedoid Vasculitis 43
1707 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 43
1708 GLY015 Glycine N-Methyltransferase Deficiency 42
1709 c FML053 Familial Colorectal Cancer 42
1710 LNG013 Lung Lymphoma 42
1711 IMM105 Immunodeficiency with Hyper-Igm, Type 3 42
1712 P PST059 Pustular Psoriasis 41
1713 c LNG051 Long Qt Syndrome 6 41
1714 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 41
1715 c BRL011 Bare Lymphocyte Syndrome, Type I 41
1716 P 8P1002 8p11 Myeloproliferative Syndrome 40
1717 IMM131 Immunodeficiency with Hyper-Igm, Type 4 40
1718 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 40
1719 GRH001 Gorham's Disease 40
1720 c LNG053 Long Qt Syndrome 9 40
1721 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 39
1722 c LNG057 Long Qt Syndrome 13 39
1723 MTH021 Methylmalonic Acidemia with Homocystinuria 39
1724 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1725 CHR286 Chronic Neutrophilic Leukemia 38
1726 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 38
1727 HMC038 Hemochromatosis, Neonatal 38
1728 PRK003 Parkes Weber Syndrome 38
1729 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 38
1730 VRS001 Virus Associated Hemophagocytic Syndrome 38
1731 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 37
1732 TRN030 Transient Erythroblastopenia of Childhood 37
1733 c LNG096 Long Qt Syndrome 15 37
1734 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
1735 MTR008 Mature B-Cell Neoplasm 37
1736 c CLR085 Colorectal Cancer 1 36
1737 HPT070 Hepatosplenic T-Cell Lymphoma 36
1738 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 35
1739 IMM015 Immune Defect Due to Absence of Thymus 35
1740 c ACR092 Aicardi-Goutieres Syndrome 5 35
1741 P THP004 Thiopurines, Poor Metabolism of, 1 35
1742 BCL008 B-Cell Childhood Acute Lymphoblastic Leukemia 35
1743 c LNG056 Long Qt Syndrome 12 35
1744 CNT018 Central Nervous System Leukemia 35
1745 c FML117 Familial Cold Autoinflammatory Syndrome 2 35
1746 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
1747 P INH011 Inherited Bone Marrow Failure Syndromes 34
1748 LNG004 Langerhans Cell Sarcoma 34
1749 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 33
1750 GRY001 Gray Zone Lymphoma 33
1751 CLN005 Colon Lymphoma 33
1752 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 33
1753 IMM064 Immunodeficiency, Common Variable, 10 33
1754 ACT114 Acute Myeloblastic Leukemia Without Maturation 33
1755 CNG016 Congenital Intrinsic Factor Deficiency 33
1756 GRN032 Granulomatous Slack Skin Disease 33
1757 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 33
1758 UNC014 Unicentric Castleman Disease 32
1759 c ACR091 Aicardi-Goutieres Syndrome 4 32
1760 RFM001 Roifman Syndrome 32
1761 c ACR090 Aicardi-Goutieres Syndrome 2 32
1762 P BNL002 Bone Lymphoma 32
1763 c FML311 Familial Colorectal Cancer Type X 31
1764 BLD028 Bladder Lymphoma 31
1765 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
1766 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 31
1767 c CLR077 Colorectal Cancer 10 30
1768 c ALP087 Alpha-Heavy Chain Disease 30
1769 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1770 NLL001 Null-Cell Leukemia 30
1771 c ACR081 Aicardi-Goutieres Syndrome 6 30
1772 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 30
1773 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30
1774 c NPH072 Nephrotic Syndrome, Type 7 29
1775 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1776 IMM080 Immunodeficiency 23 29
1777 c FML253 Familial Cold Autoinflammatory Syndrome 3 29
1778 CTN027 Cutaneous Mastocytoma 28
1779 IMM065 Immunodeficiency 10 28
1780 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 28
1781 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
1782 IMM166 Immunodeficiency 27a 27
1783 c LNG098 Long Qt Syndrome 14 27
1784 c ACR084 Aicardi-Goutieres Syndrome 7 26
1785 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 26
1786 c CLR080 Colorectal Cancer 5 26
1787 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 26
1788 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 26
1789 IMM100 Immunoglobulin Kappa Light Chain Deficiency 25
1790 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 25
1791 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
1792 c CLR079 Colorectal Cancer 2 24
1793 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 24
1794 IMM066 Immunodeficiency 9 24
1795 IMM178 Immunodeficiency 31b 24
1796 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
1797 ESN023 Eosinophilia, Familial 23
1798 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 23
1799 WRM004 Warm Antibody Hemolytic Anemia 23
1800 IMM176 Immunodeficiency with Hyper-Igm, Type 5 23
1801 c CLR087 Colorectal Cancer 12 23
1802 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 22
1803 c CRD176 Cardiomyopathy, Familial Restrictive, 1 22
1804 IMM096 Immunodeficiency 30 22
1805 c CLR075 Colorectal Cancer 3 22
1806 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 22
1807 c BNM013 Bone Marrow Failure Syndrome 3 22
1808 IMM074 Immunodeficiency 16 22
1809 SPC022 Specific Antibody Deficiency 22
1810 TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 21
1811 SLC003 Selective Igm Deficiency Disease 21
1812 c BNM011 Bone Marrow Failure Syndrome 2 21
1813 c CLR081 Colorectal Cancer 6 21
1814 IMM099 Immunodeficiency 33 21
1815 c LNG045 Long Qt Syndrome 10 21
1816 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 21
1817 c AGM018 Agammaglobulinemia, X-Linked, Type 2 20
1818 c FML270 Familial Cold Autoinflammatory Syndrome 4 20
1819 c PRM151 Primary Bone Lymphoma 20
1820 SBL003 Subleukemic Leukemia 19
1821 c FML344 Familial Mediterranean Fever, Autosomal Dominant 19
1822 c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 19
1823 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1824 c LKM055 Leukemia, Acute Lymphoblastic 2 18
1825 c PLY141 Polycystic Kidney Disease 5 18
1826 IMM130 Immunoneurologic Disorder, X-Linked 18
1827 c SYS066 Systemic Polyarteritis Nodosa 18
1828 c BNM032 Bone Marrow Failure Syndrome 4 18
1829 c LNG046 Long Qt Syndrome 11 18
1830 ERY007 Erythropoietin Polycythemia 18
1831 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1832 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 17
1833 c PSR022 Psoriasis 15, Pustular 17
1834 IMM172 Immunodeficiency 34 17
1835 MLY011 Maleylacetoacetate Isomerase Deficiency 16
1836 c CRD098 Cardiomyopathy, Familial Restrictive, 3 16
1837 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 16
1838 LNP001 Loin Pain Hematuria Syndrome 16
1839 c BNM033 Bone Marrow Failure Syndrome 5 16
1840 LCH010 Lichtenstein Syndrome 16
1841 c RNL117 Renal Tubular Acidosis Iii 15
1842 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
1843 c CLR083 Colorectal Cancer 8 14
1844 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
1845 c CLR082 Colorectal Cancer 7 14
1846 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
1847 c THP005 Thiopurines, Poor Metabolism of, 2 13
1848 c PRM222 Primary Polyarteritis Nodosa 13
1849 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 12
1850 c ANP011 Anaplastic Small Cell Lymphoma 12
1851 ISL032 Isolated Bone Marrow Mastocytosis 12
1852 c CLR084 Colorectal Cancer 9 12
1853 c CLR078 Colorectal Cancer 11 12
1854 c ADL080 Adult Acute Respiratory Distress Syndrome 11
1855 c PSD024 Pseudo Pelger-Huet Anomaly 11
1856 NTR010 Neutropenia Monocytopenia Deafness 11
1857 c MYL070 Myeloproliferative Disease, Autosomal Recessive 11
1858 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 11
1859 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 11
1860 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
1861 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 10
1862 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
1863 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 10
1864 c SCN047 Secondary Pulmonary Hemosiderosis 9
1865 c PLY176 Polycystic Kidney Disease 4 8
1866 c SCN055 Secondary Polyarteritis Nodosa 8
1867 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 8
1868 PNC007 Pancreas Lymphoma 8
1869 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
1870 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
1871 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7
1872 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
1873 c FML158 Familial Hemangioma 6
1874 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 6
1875 CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 6
1876 PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5
1877 VSC022 Vascular Erectile Tumor 5
1878 CNG172 Congenital Vascular Cavernous Malformations 5
1879 c LKM071 Leukemia, Chronic Lymphocytic 78
1880 P DLT002 Dilated Cardiomyopathy 74
1881 c CRD099 Cardiomyopathy, Dilated, 1e 52
1882 c CRD233 Cardiomyopathy, Dilated, 1b 50
1883 P EXD001 Exudative Vitreoretinopathy 50
1884 c CRD187 Cardiomyopathy, Dilated, 3b 48
1885 c CRD093 Cardiomyopathy, Dilated, 1a 41
1886 c CRD097 Cardiomyopathy, Dilated, 1d 40
1887 c CRD105 Cardiomyopathy, Dilated, 1o 35
1888 c CRD069 Cardiomyopathy, Dilated, 1h 33
1889 c ATM102 Autoimmune Cardiomyopathy 29
1890 c CRD102 Cardiomyopathy, Dilated, 1j 28
1891 c CRD104 Cardiomyopathy, Dilated, 1p 28
1892 c EXD004 Exudative Vitreoretinopathy 4 23
1893 c CRD155 Cardiomyopathy, Dilated, 1kk 23
1894 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 22
1895 c CRD107 Cardiomyopathy, Dilated, 1r 21
1896 c CRD101 Cardiomyopathy, Dilated, 1x 21
1897 c CRD113 Cardiomyopathy, Dilated, 1v 20
1898 c EXD010 Exudative Vitreoretinopathy 6 20
1899 c EXD012 Exudative Vitreoretinopathy 7 20
1900 c CRD153 Cardiomyopathy, Dilated, 2b 20
1901 c CRD091 Cardiomyopathy, Dilated, 1dd 20
1902 c CRD173 Cardiomyopathy, Dilated, 1nn 19
1903 c EXD007 Exudative Vitreoretinopathy 3 19
1904 c CRD112 Cardiomyopathy, Dilated, 1u 19
1905 c EXD006 Exudative Vitreoretinopathy 5 19
1906 c CRD149 Cardiomyopathy, Dilated, 1jj 19
1907 c CRD114 Cardiomyopathy, Dilated, 1m 19
1908 c CRD162 Cardiomyopathy, Dilated, 1ii 19
1909 c CRD063 Cardiomyopathy, Dilated, 2a 19
1910 c CRD159 Cardiomyopathy, Dilated, 1hh 19
1911 c CRD090 Cardiomyopathy, Dilated, 1l 18
1912 c CRD111 Cardiomyopathy, Dilated, 1i 18
1913 c CRD115 Cardiomyopathy, Dilated, 1cc 18
1914 c CRD108 Cardiomyopathy, Dilated, 1bb 18
1915 c CRD080 Cardiomyopathy, Dilated, 1g 17
1916 c CRD244 Cardiomyopathy, Dilated, 2c 17
1917 c CRD060 Cardiomyopathy, Dilated, 1z 17
1918 c CRD092 Cardiomyopathy, Dilated, 1w 17
1919 c CRD082 Cardiomyopathy, Dilated, 1gg 17
1920 c CRD096 Cardiomyopathy, Dilated, 1ee 17
1921 c CRD064 Cardiomyopathy, Dilated, 1ff 17
1922 c CRD070 Cardiomyopathy, Dilated, 1k 15
1923 c CRD071 Cardiomyopathy, Dilated, 1q 15
1924 c DLT017 Dilated Cardiomyopathy 1t 13
1925 c LMN001 Lmna-Related Dilated Cardiomyopathy 12
1926 c CRD027 Cardiomyopathy Due to Anthracyclines 8
1927 GST053 Gastric Cancer 78
1928 PLM134 Pulmonary Fibrosis, Idiopathic 74
1929 LYM133 Lymphoma, Hodgkin, Classic 73
1930 c PLM164 Pulmonary Hypertension, Primary, 1 71
1931 P HMP002 Hemophagocytic Lymphohistiocytosis 68
1932 CHD001 Chediak-Higashi Syndrome 67
1933 HYP780 Hypoadrenocorticism, Familial 64
1934 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 61
1935 HRY003 Hairy Cell Leukemia 60
1936 BNM001 Bone Marrow Cancer 60
1937 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 59
1938 P HYP061 Hypertrophic Cardiomyopathy 59
1939 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 50
1940 BLS007 Blastic Plasmacytoid Dendritic Cell 48
1941 LRG008 Large Granular Lymphocyte Leukemia 48
1942 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 46
1943 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 45
1944 HST006 Histidinemia 45
1945 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 41
1946 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 37
1947 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 36
1948 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 36
1949 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 33
1950 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 33
1951 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
1952 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 27
1953 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 23
1954 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 23
1955 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 22
1956 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 22
1957 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 21
1958 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 21
1959 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 21
1960 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
1961 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 20
1962 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 20
1963 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 20
1964 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 19
1965 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 19
1966 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 19
1967 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 19
1968 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 18
1969 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 18
1970 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
1971 MYC006 Mycosis Fungoides 74
1972 MLT157 Multiple System Atrophy 1 73
1973 c EXD008 Exudative Vitreoretinopathy 1 73
1974 P CLC063 Celiac Disease 1 72
1975 CMM004 Common Variable Immunodeficiency 71
1976 WLS001 Wilson Disease 71
1977 P NJM001 Nijmegen Breakage Syndrome 70
1978 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 70
1979 P MYC084 Mycobacterium Tuberculosis 1 68
1980 LYM007 Lymphangioleiomyomatosis 68
1981 ABT001 Abetalipoproteinemia 67
1982 SZR001 Sezary's Disease 67
1983 CNT097 Central Hypoventilation Syndrome, Congenital 67
1984 P BCL006 B-Cell Lymphomas 66
1985 CNC002 Cinca Syndrome 65
1986 STF001 Stiff-Person Syndrome 64
1987 P PLY011 Polycystic Ovary Syndrome 64
1988 PRD013 Periodic Fever, Familial, Autosomal Dominant 64
1989 BLM001 Bloom Syndrome 63
1990 P OST001 Osteopetrosis 63
1991 RTH001 Rothmund-Thomson Syndrome 62
1992 P PTN014 Patent Ductus Arteriosus 1 62
1993 FRC011 Fructose Intolerance, Hereditary 60
1994 HYP190 Hypoalphalipoproteinemia, Primary 59
1995 GLB001 Gilbert Syndrome 59
1996 P OCL002 Oculocutaneous Albinism 58
1997 DFF005 Diffuse Large B-Cell Lymphoma 58
1998 LYM040 Lymphoblastic Lymphoma 58
1999 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 58
2000 HDR002 Hidradenitis Suppurativa 57
2001 c INF071 Inflammatory Bowel Disease 1 57
2002 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2003 c HYP731 Hyperaldosteronism, Familial, Type I 56
2004 P INF037 Inflammatory Bowel Disease 56
2005 ACT103 Acute Lymphoblastic Leukemia, Childhood 55
2006 WHM001 Whim Syndrome 55
2007 P LFT003 Left Ventricular Noncompaction 55
2008 P BRT004 Bartter Disease 54
2009 c ALB009 Albinism, Oculocutaneous, Type Ia 54
2010 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
2011 c OST131 Osteopetrosis, Autosomal Dominant 2 53
2012 PRN001 Purine Nucleoside Phosphorylase Deficiency 53
2013 c ALB021 Albinism, Oculocutaneous, Type Ii 53
2014 c TCL005 T-Cell Prolymphocytic Leukemia 53
2015 P EPD083 Epidermodysplasia Verruciformis 1 52
2016 c OST163 Osteopetrosis, Autosomal Recessive 3 51
2017 c ALB020 Albinism, Oculocutaneous, Type Iii 50
2018 NTR003 Natural Killer Cell Leukemia 50
2019 SCH016 Schimke Immunoosseous Dysplasia 49
2020 c ALB019 Albinism, Oculocutaneous, Type Iv 47
2021 LGH004 Light Chain Deposition Disease 47
2022 GLY014 Glycerol Kinase Deficiency 47
2023 ENC055 Encephalopathy, Ethylmalonic 47
2024 c ATS282 Autosomal Recessive Malignant Osteopetrosis 47
2025 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 47
2026 c TYR013 Tyrosinemia, Type Ii 47
2027 RYN003 Reynolds Syndrome 47
2028 P ERY008 Erythromelalgia 47
2029 c OST129 Osteopetrosis, Autosomal Recessive 2 46
2030 CSP005 Caspase 8 Deficiency 46
2031 GLT007 Glutathione Synthetase Deficiency 46
2032 c ALB015 Albinism, Oculocutaneous, Type V 46
2033 VCS001 Vici Syndrome 46
2034 c ALB010 Albinism, Oculocutaneous, Type Ib 45
2035 FML075 Familial Isolated Hyperparathyroidism 45
2036 c BRT042 Bartter Syndrome, Type 3 44
2037 c OST136 Osteopetrosis, Autosomal Recessive 7 43
2038 c PLY105 Polycystic Ovary Syndrome 1 43
2039 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 42
2040 c ALB016 Albinism, Oculocutaneous, Type Vii 41
2041 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 40
2042 IMM078 Immunodeficiency 21 40
2043 GST020 Gastric Antral Vascular Ectasia 39
2044 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 39
2045 ENT008 Enteropathy-Associated T-Cell Lymphoma 39
2046 LYM042 Lymphocytic Colitis 39
2047 c OST126 Osteopetrosis, Autosomal Recessive 1 38
2048 P FML156 Familial Hyperaldosteronism 36
2049 c HYP600 Hyperaldosteronism, Familial, Type Ii 36
2050 c ACR088 Aicardi-Goutieres Syndrome 3 36
2051 c INF092 Inflammatory Bowel Disease 9 35
2052 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
2053 MJD001 Majeed Syndrome 34
2054 c INF087 Inflammatory Bowel Disease 4 33
2055 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
2056 TTR005 Tetrahydrobiopterin Deficiency 33
2057 LYM094 Lymphedema, Primary, with Myelodysplasia 32
2058 c OST134 Osteopetrosis, Autosomal Recessive 6 31
2059 P SNG014 Singleton-Merten Syndrome 31
2060 c LFT021 Left Ventricular Noncompaction 1 30
2061 c INF086 Inflammatory Bowel Disease 3 30
2062 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 29
2063 IMM179 Immunodeficiency 31c 29
2064 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
2065 c INF089 Inflammatory Bowel Disease 6 27
2066 c BNM010 Bone Marrow Failure Syndrome 1 26
2067 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
2068 c SNG011 Singleton-Merten Syndrome 1 26
2069 c OST125 Osteopetrosis, Autosomal Dominant 1 26
2070 c OST137 Osteopetrosis, Autosomal Recessive 4 26
2071 c OST120 Osteopetrosis, Autosomal Recessive 5 26
2072 c ALB017 Albinism, Oculocutaneous, Type Vi 26
2073 DLF001 Dieulafoy Lesion 25
2074 c INF088 Inflammatory Bowel Disease 5 25
2075 c INF075 Inflammatory Bowel Disease 16 25
2076 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 24
2077 c INF078 Inflammatory Bowel Disease 2 24
2078 c OST106 Osteopetrosis, Autosomal Recessive 8 23
2079 IMM177 Immunodeficiency 54 22
2080 SPN026 Spinal Cord Lymphoma 21
2081 c INF072 Inflammatory Bowel Disease 11 21
2082 c BRT024 Bartter Syndrome Type 4 21
2083 c INF077 Inflammatory Bowel Disease 19 21
2084 c LFT017 Left Ventricular Noncompaction 8 20
2085 GRW003 Growth Hormone Insensitivity with Immunodeficiency 20
2086 c INF162 Inflammatory Bowel Disease 25 20
2087 c OST171 Osteopetrosis, Autosomal Dominant 3 20
2088 c INF090 Inflammatory Bowel Disease 7 20
2089 c INF160 Inflammatory Bowel Disease 17 19
2090 c LFT018 Left Ventricular Noncompaction 10 18
2091 c SNG012 Singleton-Merten Syndrome 2 18
2092 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
2093 c INF079 Inflammatory Bowel Disease 20 18
2094 c EPD085 Epidermodysplasia Verruciformis 3 17
2095 c INF067 Inflammatory Bowel Disease 10 17
2096 c INF068 Inflammatory Bowel Disease 13 17
2097 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 17
2098 c LFT020 Left Ventricular Noncompaction 7 16
2099 c INF093 Inflammatory Bowel Disease 14 16
2100 c TCL008 T-Cell Lymphoma 1a 15
2101 c INF073 Inflammatory Bowel Disease 12 15
2102 c EPD086 Epidermodysplasia Verruciformis 4 15
2103 c INF080 Inflammatory Bowel Disease 21 15
2104 c CLC048 Celiac Disease 3 15
2105 c CLC037 Celiac Disease 4 15
2106 c CLC039 Celiac Disease 13 15
2107 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
2108 c INF170 Inflammatory Bowel Disease 29 14
2109 c CLC046 Celiac Disease 5 14
2110 c EPD087 Epidermodysplasia Verruciformis 5 14
2111 c CLC038 Celiac Disease 10 14
2112 c CLC045 Celiac Disease 2 14
2113 c INF091 Inflammatory Bowel Disease 8 14
2114 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
2115 c CLC040 Celiac Disease 6 14
2116 c CLC044 Celiac Disease 12 13
2117 c CLC041 Celiac Disease 7 13
2118 c CLC043 Celiac Disease 11 13
2119 c CLC042 Celiac Disease 9 13
2120 c CLC047 Celiac Disease 8 13
2121 c LFT011 Left Ventricular Noncompaction 2 13
2122 c INF076 Inflammatory Bowel Disease 18 13
2123 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
2124 c INF081 Inflammatory Bowel Disease 22 12
2125 c INF074 Inflammatory Bowel Disease 15 12
2126 c INF084 Inflammatory Bowel Disease 26 12
2127 c INF083 Inflammatory Bowel Disease 24 12
2128 c INF082 Inflammatory Bowel Disease 23 12
2129 c INF085 Inflammatory Bowel Disease 27 12
2130 c SCN066 Secondary Erythromelalgia 12
2131 c INF161 Inflammatory Bowel Disease 28 11
2132 c MYC055 Mycobacterium Tuberculosis 3 11
2133 c EPD084 Epidermodysplasia Verruciformis 2 11
2134 c MYC054 Mycobacterium Tuberculosis 2 9
2135 c CLC009 Clcn7-Related Osteopetrosis 9
2136 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 8
2137 c SCN010 Scn9a-Related Inherited Erythromelalgia 5
2138 P PHC003 Pheochromocytoma 73
2139 c SPR094 Sporadic Pheochromocytoma 35
2140 c MLG157 Malignant Pheochromocytoma 35
2141 OMN001 Omenn Syndrome 67
2142 P CND004 Candidiasis 63
2143 P TRC086 Trichohepatoenteric Syndrome 1 61
2144 P JVN014 Juvenile Polyposis Syndrome 61
2145 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
2146 CHR003 Cherubism 56
2147 HYD012 Hydrops Fetalis 52
2148 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 38
2149 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 37
2150 c TRC078 Trichohepatoenteric Syndrome 2 35
2151 c CND034 Candidiasis, Familial, 2 30
2152 c CND036 Candidiasis, Familial, 4 25
2153 c FML334 Familial Candidiasis 23
2154 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
2155 c CND025 Candidiasis, Familial, 8 22
2156 c CND033 Candidiasis, Familial, 1 21
2157 c JVN034 Juvenile Polyposis of Infancy 21
2158 c CND031 Candidiasis, Familial, 9 19
2159 c CND037 Candidiasis, Familial, 6 19
2160 c CND027 Candidiasis, Familial, 3 16
2161 ACR006 Aceruloplasminemia 72
2162 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
2163 MSM014 Mismatch Repair Cancer Syndrome 64
2164 MCK007 Muckle-Wells Syndrome 64
2165 c HYP564 Hypocalcemia, Autosomal Dominant 2 19



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