Blood Diseases Category (2395 diseases)


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

# Family MCID Name MIFTS
1 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
2 PRT012 Prothrombin Deficiency 37
3 PRT045 Prothrombin-Related Thrombophilia 31
4 HRD083 Hereditary Antithrombin Deficiency 30
5 GHS005 Ghosal Hematodiaphyseal Dysplasia 31
6 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 27
7 FCT013 Factor V Leiden Thrombophilia 22
8 c THR092 Thrombophilia Due to Thrombin Defect 74
9 MYH004 Myh9 Related Thrombocytopenia 21
10 c THR037 Thrombocytopenia 2 36
11 HRD163 Hereditary Antithrombin Deficiency Type 2 5
12 HRD164 Hereditary Antithrombin Deficiency Type I 5
13 c THR102 Thrombocytopenia 5 28
14 c THR090 Thrombocythemia 1 47
15 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 30
16 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 22
17 THR016 Thrombophlebitis 50
18 c THR082 Thrombophilia Due to Activated Protein C Resistance 61
19 INT078 Intracranial Thrombosis 48
20 c RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 21
21 c THR111 Thrombocytopenia 3 40
22 c THR048 Thrombocytopenia 4 31
23 BLD141 Blood Group--Kell System 21
24 BLD160 Blood Group, John Milton Hagen System 15
25 THR024 Thrombosis 58
26 THR116 Thrombocytopenia, Cyclic 25
27 c BLD146 Blood Group, P1pk System 21
28 THR039 Thrombocytopenia Robin Sequence 8
29 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 4
30 P ESS003 Essential Thrombocythemia 69
31 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 36
32 c THR086 Thrombocythemia 3 26
33 MND006 Mondor Disease 18
34 CHR466 Chronic Thromboembolic Pulmonary Hypertension 41
35 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 32
36 BLD167 Blood Group, Kidd System 21
37 BRG013 Buerger Disease 58
38 SGT001 Sagittal Sinus Thrombosis 33
39 HPR006 Heparin Cofactor Ii Deficiency 29
40 CVR002 Cavernous Sinus Thrombosis 29
41 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 28
42 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 27
43 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 25
44 c BLD132 Bleeding Disorder, Platelet-Type, 21 21
45 RPH001 Raph Blood Group System 13
46 PRM053 Primary Release Disorder of Platelets 10
47 c HMT005 Hematocrit/hemoglobin Quantitative Trait Locus 1 9
48 P HMT007 Hematocrit/hemoglobin Quantitative Trait Locus 3 8
49 c HMT006 Hematocrit/hemoglobin Quantitative Trait Locus 2 7
50 MCR041 Macrothrombocytopenia Progressive Deafness 4
51 OBS522 Obsolete: Hereditary Thrombocytopenia-Hematological Cancer Predisposition Syndrome 4
52 c SCP001 Sc Phocomelia Syndrome 41
53 P PHC014 Phocomelia 25
54 c DKP001 Dk Phocomelia Syndrome 23
55 c THR087 Thrombocythemia 2 21
56 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 18
57 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 58
58 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52
59 PRT018 Portal Vein Thrombosis 50
60 BLC004 Blackwater Fever 32
61 c BLD140 Blood Group, I System 29
62 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 25
63 BLD155 Blood Group, Cromer System 25
64 BLD165 Blood Group, Colton System 21
65 BLD159 Blood Group, Junior System 21
66 PRN017 Perianal Hematoma 20
67 BLD162 Blood Group, Vel System 17
68 BLD166 Blood Group, Diego System 16
69 BLD158 Blood Group, Chido/rodgers System 11
70 CRN017 Coronary Thrombosis 45
71 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 38
72 HMG010 Hemoglobinemia 29
73 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 27
74 HMT001 Hematocele of Tunica Vaginalis Testis 27
75 LTR002 Lateral Sinus Thrombosis 26
76 P MNP023 Mean Platelet Volume/count Quantitative Trait Locus 2 7
77 BDD001 Budd-Chiari Syndrome 62
78 HMT018 Hematopoietic Stem Cell Transplantation 54
79 P PST095 Post-Thrombotic Syndrome 50
80 ASP030 Aspirin Resistance 42
81 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 26
82 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 22
83 P RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 20
84 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 15
85 HMG031 Hemoglobin, High Altitude Adaptation 15
86 BLD161 Blood Group, Globoside System 32
87 IVC001 Ivic Syndrome 30
88 STC016 Sticky Platelet Syndrome 25
89 BLD163 Blood Group, Dombrock System 24
90 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 24
91 BLD164 Blood Group, Gerbich System 22
92 THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 21
93 RDN004 Radin Blood Group Antigen 19
94 BLD151 Blood Group--Wright Antigen 18
95 BLD148 Blood Group, Langereis System 18
96 BLD144 Blood Group System, Landsteiner-Wiener 15
97 ANR040 Aneurysm 60
98 P DYS026 Dysfibrinogenemia 42
99 THR035 Thrombasthenia 42
100 PLT015 Platelet Aggregation, Spontaneous 40
101 HMM001 Hemometra 35
102 PLS032 Plasmodium Falciparum Blood Infection Level 22
103 INT076 Intracranial Sinus Thrombosis 22
104 ANK019 Ankrd26-Related Thrombocytopenia 20
105 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 18
106 HMT019 Hematohidrosis 15
107 OBS269 Obsolete: Inherited Predisposition to Essential Thrombocythemia 11
108 THR098 Thrombocythemia, X-Linked 10
109 FCT024 Factor V Excess with Spontaneous Thrombosis 9
110 c BLD143 Blood Group--Lke 7
111 c MNP022 Mean Platelet Volume/count Quantitative Trait Locus 1 7
112 c MNP024 Mean Platelet Volume/count Quantitative Trait Locus 3 7
113 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 7
114 c MNP025 Mean Platelet Volume/count Quantitative Trait Locus 4 7
115 c MNP026 Mean Platelet Volume/count Quantitative Trait Locus 5 7
116 c MNP027 Mean Platelet Volume/count Quantitative Trait Locus 6 7
117 c SCK008 Sickle Delta Beta Thalassemia 5
118 P HRM001 Hermansky-Pudlak Syndrome 64
119 c HRM005 Hermansky-Pudlak Syndrome 1 54
120 HYP014 Hyperuricemia 52
121 c HRM008 Hermansky-Pudlak Syndrome 5 51
122 c HRM007 Hermansky-Pudlak Syndrome 4 38
123 c HRM020 Hermansky-Pudlak Syndrome 10 23
124 HMG009 Hemoglobin Zurich 22
125 RHN014 Rh-Null, Amorph Type 19
126 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 18
127 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 16
128 MLR004 Malaria 82
129 c HML033 Hemolytic Uremic Syndrome, Atypical 1 67
130 MLD001 Melioidosis 66
131 PRP001 Propionic Acidemia 63
132 c DNG003 Dengue Disease 61
133 P DNG005 Dengue Virus 57
134 ARG007 Argininemia 55
135 c HRM006 Hermansky-Pudlak Syndrome 3 50
136 ESN015 Eosinophilic Fasciitis 48
137 VTM033 Vitamin K Deficiency Bleeding 47
138 BBS001 Babesiosis 47
139 GLC011 Galactose Epimerase Deficiency 46
140 c HRM009 Hermansky-Pudlak Syndrome 6 43
141 PLS030 Plasminogen Deficiency, Type I 43
142 THR123 Thrombotic Microangiopathy 41
143 MRN001 Marantic Endocarditis 40
144 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 34
145 c HML035 Hemolytic Uremic Syndrome, Atypical 2 25
146 c HML034 Hemolytic Uremic Syndrome, Atypical 3 25
147 ATM012 Autoimmune Disease of Blood 24
148 c HML032 Hemolytic Uremic Syndrome, Atypical 4 23
149 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
150 c HML036 Hemolytic Uremic Syndrome, Atypical 6 23
151 THR007 Thrombophlebitis Migrans 19
152 BLD153 Blood Group--Swann System 17
153 SPN433 Spondyloepiphyseal Dysplasia, Kondo-Fu Type 17
154 c BLD168 Bleeding Disorder, Platelet-Type, 22 14
155 ACH007 Achenbach Syndrome 12
156 P ATY049 Atypical Hemolytic Uremic Syndrome with C3 Anomaly 10
157 c SYS001 Systemic Lupus Erythematosus 88
158 P TTR001 Tetralogy of Fallot 70
159 HYP056 Hypoglycemia 68
160 P DBT009 Diabetes Mellitus 66
161 GT001 Gout 63
162 P LPS004 Lupus Erythematosus 62
163 ISC004 Ischemia 62
164 P SHW006 Shwachman-Diamond Syndrome 1 61
165 P END033 Endocarditis 58
166 GST033 Gestational Diabetes 58
167 P VNS003 Venous Insufficiency 55
168 HMC014 Homocysteinemia 54
169 CRT016 Carotid Artery Disease 53
170 RTN003 Retinal Ischemia 52
171 c DMN023 Diamond-Blackfan Anemia 1 51
172 CLC001 Calciphylaxis 49
173 P AFB001 Afibrinogenemia 49
174 c CHR431 Chronic Venous Insufficiency 48
175 HPT025 Hepatic Lipase Deficiency 47
176 LPP002 Lipoprotein Glomerulopathy 44
177 ISC015 Ischemic Colitis 43
178 PYR040 Pyropoikilocytosis, Hereditary 39
179 c SYS043 Systemic Lupus Erythematosus 1 39
180 c PRM225 Primary Thrombocytopenia 39
181 c ACQ042 Acquired Hemophilia a 38
182 CRT004 Carotid Artery Thrombosis 37
183 c SYS061 Systemic Lupus Erythematosus 16 36
184 c SBC003 Subacute Bacterial Endocarditis 33
185 CRB132 Cerebral Sinovenous Thrombosis 33
186 CRN270 Coronary Artery Dissection, Spontaneous 33
187 c RRD013 Rare Diabetes Mellitus Type 2 32
188 HYP648 Hypertension and Brachydactyly Syndrome 30
189 c TYP027 Type 1 Diabetes Mellitus 10 29
190 c TYP032 Type 1 Diabetes Mellitus 6 29
191 PLT031 Platelet Membrane Fluidity 29
192 c TYP035 Type 1 Diabetes Mellitus 11 28
193 c TYP037 Type 1 Diabetes Mellitus 13 27
194 c TYP033 Type 1 Diabetes Mellitus 7 27
195 c TYP028 Type 1 Diabetes Mellitus 2 27
196 c TYP031 Type 1 Diabetes Mellitus 5 26
197 c CNG223 Congenital Methemoglobinemia 25
198 c SYS038 Systemic Lupus Erythematosus 2 25
199 c SHW007 Shwachman-Diamond Syndrome 2 24
200 c TYP036 Type 1 Diabetes Mellitus 12 23
201 c TYP034 Type 1 Diabetes Mellitus 8 22
202 DHY015 Dehydrated Hereditary Stomatocytosis 2 22
203 c SYS040 Systemic Lupus Erythematosus 10 22
204 c TYP038 Type 1 Diabetes Mellitus 15 22
205 c SYS046 Systemic Lupus Erythematosus 3 21
206 c TYP030 Type 1 Diabetes Mellitus 4 21
207 c TYP039 Type 1 Diabetes Mellitus 17 21
208 c SYS053 Systemic Lupus Erythematosus 5 21
209 c TYP040 Type 1 Diabetes Mellitus 18 21
210 c SYS069 Systemic Lupus Erythematosus 6 21
211 c SYS051 Systemic Lupus Erythematosus 4 20
212 c SYS041 Systemic Lupus Erythematosus 9 20
213 c TYP029 Type 1 Diabetes Mellitus 3 18
214 c SYS065 Systemic Lupus Erythematosus 11 18
215 PLT016 Platelet Adenylate Cyclase Activity 17
216 BLD137 Blood Group--Ahonen 17
217 c SYS055 Systemic Lupus Erythematosus 12 16
218 P PLT029 Platelet Groups--Ko System 16
219 c SYS048 Systemic Lupus Erythematosus 8 16
220 c SYS052 Systemic Lupus Erythematosus 13 16
221 BLD145 Blood Group--Newfoundland 16
222 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 15
223 OBS532 Obsolete: Ehlers-Danlos Syndrome, Fibronectinemic Type 15
224 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 15
225 WHT020 White Blood Cell Count Quantitative Trait Locus 1 15
226 c SYS047 Systemic Lupus Erythematosus 7 15
227 MTH081 Mthfr Gene Variant 14
228 c SYS045 Systemic Lupus Erythematosus 14 13
229 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13
230 c SYS067 Systemic Lupus Erythematosus 15 13
231 GNT148 Genetic Hemoglobinopathy 12
232 PLT028 Platelet Factor 3 Deficiency 12
233 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 11
234 P BLD150 Blood Group--Ul System 10
235 PLT034 Platelet Prostacyclin Receptor Defect 10
236 HMG030 Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain 9
237 c RRD012 Rare Diabetes Mellitus Type 1 9
238 YTB001 Yt Blood Group Antigen 9
239 PLT027 Platelet Disorder, Undefined 9
240 HMT020 Hematopoietic Stem Cell Kinetics, Control of 8
241 ATH014 Athrombia, Essential 8
242 PLT033 Platelet Signal Processing Defect 8
243 THL019 Thalassemia, Beta+, Silent Allele 8
244 OBS801 Obsolete: Platelet Storage Pool Disease 8
245 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 8
246 THR115 Thrombocyte B 7
247 c RRD067 Rare Diabetes Mellitus 7
248 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
249 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
250 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 7
251 TSY001 Tau Syndrome 7
252 PLS033 Plasma Clot Retraction Factor, Deficiency of 6
253 BLD136 Blood Group--Abh Antigen, Type 2 5
254 HML017 Hemolytic Uremic Syndrome, Atypical, Childhood 5
255 P BLD139 Blood Group--En 5
256 BLD147 Blood Group--Private Systems 4
257 BLD135 Blood Group--Abo Suppressor 3
258 c PLT030 Platelet Groups--Pl System 3
259 HMT021 Hematological Disease Associated with an Acquired Peripheral Neuropathy 3
260 RRG024 Rare Genetic Hematologic Disease 3
261 GNT137 Genetic Tumor of Hematopoietic and Lymphoid Tissues 3
262 OBS650 Obsolete: Platelet Function Disease Associated with Renal Insufficiency 3
263 GNT062 Genetic Thrombotic Microangiopathy 2
264 OBS295 Obsolete: Resistance to Acenocoumarol in Venous Thrombosis and Atrial Fibrillation 2
265 OBS330 Obsolete: Warfarine Dose Selection in the Treatment of Venous Thrombosis and Atrial Fibrillation 2
266 OBS343 Obsolete: Resistance to Warfarine in Venous Thrombosis and Atrial Fibrillation 2
267 OBS347 Obsolete: Resistance to Phenprocoumon in Venous Thrombosis and Atrial Fibrillation 2
268 OBS350 Obsolete: Resistance to Fluindione in Venous Thrombosis and Atrial Fibrillation 2
269 c HYP595 Hypertension, Essential 87
270 c LKM061 Leukemia, Acute Myeloid 84
271 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 82
272 c FNC027 Fanconi Anemia, Complementation Group a 81
273 c LKM063 Leukemia, Chronic Myeloid 74
274 AGM019 Agammaglobulinemia, X-Linked 71
275 P DMN001 Diamond-Blackfan Anemia 69
276 BRK010 Burkitt Lymphoma 68
277 ATH013 Atherosclerosis Susceptibility 68
278 P HMP002 Hemophagocytic Lymphohistiocytosis 68
279 c ART101 Aortic Valve Disease 2 67
280 P PRD008 Periodontitis 66
281 MSM014 Mismatch Repair Cancer Syndrome 65
282 BLM001 Bloom Syndrome 65
283 c FNC043 Fanconi Anemia, Complementation Group E 64
284 P NTR004 Neutropenia 64
285 ACT119 Acute Promyelocytic Leukemia 63
286 P ACR001 Aicardi-Goutieres Syndrome 63
287 P MYL006 Myeloid Leukemia 61
288 CRT002 Cartilage-Hair Hypoplasia 60
289 P CRN300 Coronary Heart Disease 1 59
290 c ADL017 Adult T-Cell Leukemia 59
291 P HRD011 Hereditary Spherocytosis 59
292 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 59
293 DNG002 Dengue Hemorrhagic Fever 59
294 P THR005 Thrombotic Thrombocytopenic Purpura 59
295 P GLM007 Glomerulonephritis 58
296 PRP030 Purpura 56
297 c FNC042 Fanconi Anemia, Complementation Group D2 56
298 P FNC044 Fanconi Anemia, Complementation Group C 56
299 c PRD040 Periodontitis, Chronic 56
300 HRT012 Heart Valve Disease 56
301 CHK001 Chikungunya 55
302 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 55
303 HYP005 Hypokalemia 55
304 c ACT020 Acute T Cell Leukemia 54
305 FCT001 Factor Viii Deficiency 54
306 P HMR003 Hemorrhagic Disease 54
307 P ACT105 Acute Mountain Sickness 53
308 HLL004 Hellp Syndrome 53
309 c ACR116 Aicardi-Goutieres Syndrome 1 53
310 P SCK005 Sickle Cell Disease 53
311 c ACT135 Acute Graft Versus Host Disease 52
312 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 52
313 P ANL018 Analbuminemia 51
314 c FNC025 Fanconi Anemia, Complementation Group J 51
315 c FNC029 Fanconi Anemia, Complementation Group I 50
316 c HMN021 Human T-Cell Leukemia Virus Type 1 50
317 RFR010 Refractory Anemia 50
318 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 49
319 CVR006 Cavernous Hemangioma 49
320 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 49
321 c FNC024 Fanconi Anemia, Complementation Group D1 48
322 P TCL004 T-Cell Leukemia 48
323 c FNC045 Fanconi Anemia, Complementation Group F 48
324 P PRR002 Pure Red-Cell Aplasia 47
325 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47
326 P ART018 Aortic Valve Insufficiency 47
327 c FNC028 Fanconi Anemia, Complementation Group L 47
328 P MTH007 Methemoglobinemia 47
329 TRC012 Trichuriasis 47
330 c MLG069 Malignant Hypertension 46
331 MCR018 Microcytic Anemia 46
332 EXT010 Extramedullary Plasmacytoma 46
333 MCR225 Macrophage Activation Syndrome 45
334 c FNC032 Fanconi Anemia, Complementation Group B 45
335 c FNC030 Fanconi Anemia, Complementation Group G 45
336 CTS011 Cutis Marmorata Telangiectatica Congenita 45
337 PRT011 Protein C Deficiency 45
338 c FNC046 Fanconi Anemia, Complementation Group P 44
339 c FNC048 Fanconi Anemia, Complementation Group O 44
340 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 44
341 c CHR546 Chronic Mountain Sickness 43
342 LKS001 Leukostasis 43
343 ESN002 Eosinophilia-Myalgia Syndrome 43
344 P PRC031 Preeclampsia/eclampsia 1 42
345 P PRP034 Purpura Fulminans 42
346 LCN001 Lice Infestation 41
347 c FNC057 Fanconi Anemia, Complementation Group U 41
348 MCR017 Macrocytic Anemia 41
349 c FNC023 Fanconi Anemia, Complementation Group N 41
350 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 40
351 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 40
352 c FNC047 Fanconi Anemia, Complementation Group Q 39
353 c SPH013 Spherocytosis, Type 1 39
354 IND002 Indolent Systemic Mastocytosis 39
355 c PSD106 Pseudo-Torch Syndrome 1 39
356 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 39
357 BLR027 Blue Rubber Bleb Nevus 39
358 c SPH016 Spherocytosis, Type 4 39
359 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 39
360 ANM001 Anemia of Prematurity 38
361 c ACR092 Aicardi-Goutieres Syndrome 5 38
362 HYP001 Hypochromic Microcytic Anemia 38
363 c SPH014 Spherocytosis, Type 2 38
364 c HMN022 Human T-Cell Leukemia Virus Type 2 38
365 ESN017 Eosinophilic Granuloma 38
366 c ATM045 Autoimmune Glomerulonephritis 38
367 c ACR088 Aicardi-Goutieres Syndrome 3 37
368 c ACR090 Aicardi-Goutieres Syndrome 2 37
369 MYL074 Myelodysplastic Syndrome with Excess Blasts 37
370 c FNC052 Fanconi Anemia, Complementation Group T 37
371 c PRM304 Primary Hemophagocytic Lymphohistiocytosis 36
372 c SPH015 Spherocytosis, Type 3 36
373 HMP018 Hemophilic Arthropathy 35
374 c LKM004 Leukemia, B-Cell, Chronic 35
375 c LKM005 Leukemia, T-Cell, Chronic 35
376 c FNC058 Fanconi Anemia, Complementation Group R 35
377 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 35
378 c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 35
379 P FML187 Familial Hypertension 35
380 c ACR091 Aicardi-Goutieres Syndrome 4 34
381 CRY019 Cryohydrocytosis 34
382 c DMN021 Diamond-Blackfan Anemia 6 34
383 c FNC062 Fanconi Anemia, Complementation Group S 34
384 c FNC056 Fanconi Anemia, Complementation Group V 33
385 HMC016 Homocystinuria Due to Cbs Deficiency 33
386 c ACQ047 Acquired Methemoglobinemia 33
387 FSR001 Fusariosis 33
388 c SPH017 Spherocytosis, Type 5 33
389 c ACR081 Aicardi-Goutieres Syndrome 6 33
390 CNG017 Congenital Nonspherocytic Hemolytic Anemia 32
391 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 32
392 SML011 Smoldering Myeloma 32
393 CHL070 Cholesterol Embolism 32
394 c ELL010 Elliptocytosis 1 31
395 NNT011 Neonatal Anemia 31
396 RHS001 Rh Isoimmunization 31
397 GNT005 Giant Hemangioma 31
398 c MLG039 Malignant Essential Hypertension 31
399 PRP038 Properdin Deficiency, X-Linked 31
400 ANH003 Anhaptoglobinemia 30
401 NNS003 Non-Secretory Myeloma 30
402 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 30
403 c ACR084 Aicardi-Goutieres Syndrome 7 30
404 PLT001 Plethora of Newborn 30
405 c BNG021 Benign Essential Hypertension 29
406 NTR036 Neutropenia, Severe Congenital, X-Linked 29
407 c HRD146 Hereditary Methemoglobinemia 29
408 NTR011 Neutrophil-Specific Granule Deficiency 28
409 c DMN017 Diamond-Blackfan Anemia 10 28
410 MYL002 Myelophthisic Anemia 27
411 c CRN174 Coronary Heart Disease 2 27
412 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 27
413 c ACQ016 Acquired Pure Red Cell Aplasia 27
414 c ATS210 Autosomal Recessive Sideroblastic Anemia 27
415 HDG004 Hodgkin's Granuloma 27
416 ATM069 Autoimmune Hemolytic Anemia, Warm Type 26
417 c DMN006 Diamond-Blackfan Anemia 3 26
418 c PSD107 Pseudo-Torch Syndrome 2 26
419 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 26
420 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 25
421 c DMN022 Diamond-Blackfan Anemia 9 25
422 c CRN214 Coronary Heart Disease 5 25
423 c DMN018 Diamond-Blackfan Anemia 5 25
424 c DMN019 Diamond-Blackfan Anemia 4 25
425 c MLG080 Malignant Secondary Hypertension 25
426 c DMN024 Diamond-Blackfan Anemia 7 25
427 c PRC045 Preeclampsia/eclampsia 5 25
428 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 25
429 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 24
430 c DMN020 Diamond-Blackfan Anemia 8 24
431 c SBC010 Subacute Glomerulonephritis 24
432 PRT025 Protein-Deficiency Anemia 24
433 c DMN005 Diamond-Blackfan Anemia 2 24
434 c FNC061 Fanconi Anemia, Complementation Group W 24
435 c PRC034 Preeclampsia/eclampsia 4 24
436 P TRC034 Torch Syndrome 23
437 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
438 PLS037 Plasma Cell Tumor 23
439 LFF002 Loeffler Syndrome 23
440 FCT033 Factor Xiii, B Subunit, Deficiency of 23
441 HDG006 Hodgkin's Paragranuloma 23
442 ATR024 Atrial Fibrillation and Stroke 22
443 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 22
444 c DMN029 Diamond-Blackfan Anemia 11 22
445 ARG006 Aregenerative Anemia 22
446 P SLF001 Sulfhemoglobinemia 22
447 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
448 FBR023 Fibrinogen Deficiency, Congenital 21
449 c DMN028 Diamond-Blackfan Anemia 12 21
450 c RRH015 Rare Hemorrhagic Disorder 21
451 ATM106 Autoimmune Hemolytic Anemia, Cold Type 21
452 c ATS209 Autosomal Dominant Secondary Polycythemia 21
453 c DMN030 Diamond-Blackfan Anemia 13 20
454 c CRN177 Coronary Heart Disease 7 20
455 LFR008 L-Ferritin Deficiency 19
456 HYP018 Hyperglobulinemic Purpura 19
457 c DMN047 Diamond-Blackfan Anemia 18 19
458 HMC036 Homocystinuria Without Methylmalonic Aciduria 19
459 HVY003 Heavy Chain Deposition Disease 19
460 c CNG336 Congenital Analbuminemia 19
461 P RFR014 Refractory Anemia with Excess Blasts Type 2 19
462 c CRN172 Coronary Heart Disease 3 19
463 c DMN039 Diamond-Blackfan Anemia 17 18
464 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 18
465 c DMN040 Diamond-Blackfan Anemia 16 18
466 DND003 Dendritic Cell Thymoma 18
467 HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 18
468 c DMN045 Diamond-Blackfan Anemia-Like 18
469 c CRN178 Coronary Heart Disease 6 18
470 c ART159 Aortic Valve Disease 3 17
471 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 17
472 DCN001 Dic in Newborn 17
473 c DMN049 Diamond-Blackfan Anemia 20 17
474 c ACQ039 Acquired Purpura Fulminans 16
475 HYP765 Hyperbilirubinemia, Shunt, Primary 16
476 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 16
477 c MTH083 Methemoglobinemia, Beta Type 16
478 c SBC004 Subacute Myeloid Leukemia 15
479 c DMN048 Diamond-Blackfan Anemia 19 15
480 LCL017 Localized Pagetoid Reticulosis 15
481 NNT054 Neonatal Alloimmune Neutropenia 15
482 c CNG346 Congenital Aortic Valve Insufficiency 14
483 c CRN173 Coronary Heart Disease 8 14
484 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 14
485 SML040 Smoldering Systemic Mastocytosis 14
486 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 13
487 BLD072 Bleeding Disorder, East Texas Type 13
488 c CRN176 Coronary Heart Disease 9 13
489 ALG024 Alg6-Congenital Disorder of Glycosylation 13
490 CHR058 Chronic Congestive Splenomegaly 13
491 c CRN175 Coronary Heart Disease 4 13
492 c HMN023 Human T-Cell Leukemia Virus Type 3 12
493 c PRC032 Preeclampsia/eclampsia 2 12
494 c ATY051 Atypical Hemolytic Uremic Syndrome with I Factor Anomaly 12
495 LTH044 Lutheran Null 12
496 c PRC033 Preeclampsia/eclampsia 3 11
497 c HYP447 Hypertension, Essential 1 11
498 c HYP452 Hypertension, Essential 6 11
499 CGL001 Coagulation Protein Disease 11
500 c HYP448 Hypertension, Essential 2 10
501 c HYP449 Hypertension, Essential 3 10
502 c HYP450 Hypertension, Essential 4 10
503 c MTH084 Methemoglobinemia, Alpha Type 10
504 DSS003 Disseminated Eosinophilic Collagen Disease 10
505 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 9
506 CNS021 Constitutional Neutropenia 9
507 c HYP451 Hypertension, Essential 5 9
508 c HYP454 Hypertension, Essential 8 9
509 CVR003 Cavernous Hemangioma of Face 9
510 ALG025 Alg1-Congenital Disorder of Glycosylation 9
511 c HYP453 Hypertension, Essential 7 9
512 ATY050 Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly 9
513 P ATY047 Atypical Hemolytic Uremic Syndrome with B Factor Anomaly 9
514 PDT039 Pediatric Castleman Disease 9
515 c CNG266 Congenital Secondary Polycythemia 8
516 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 8
517 c SSC054 Susceptibility to Localized Juvenile Periodontitis 8
518 c RRH018 Rare Hemorrhagic Disorder Due to a Qualitative Platelet Defect 7
519 CHR062 Chronic Erythremia 7
520 c ACQ028 Acquired Secondary Polycythemia 7
521 c SLF013 Sulfhemoglobinemia, Congenital 7
522 c RRH028 Rare Hemorrhagic Disorder Due to a Constitutional Platelet Anomaly 7
523 c BNG034 Benign Secondary Hypertension 7
524 PHY001 Physiological Polycythemia 6
525 CVR005 Cavernous Hemangioma of Orbit 6
526 c RRH013 Rare Hemorrhagic Disorder Due to a Platelet Anomaly 6
527 c RRH016 Rare Hemorrhagic Disorder Due to an Acquired Platelet Anomaly 6
528 c RRH017 Rare Hemorrhagic Disorder Due to a Constitutional Thrombocytopenia 6
529 EXT049 Extramedullary Soft Tissue Plasmacytoma 6
530 c PLY005 Polycythemia Due to Hypoxia 6
531 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 6
532 c CNS018 Constitutional Hemolytic Anemia Due to Acanthocytosis 5
533 c RRH002 Rare Hemorrhagic Disorder Due to an Acquired Coagulation Factor Defect 5
534 c RRH014 Rare Hemorrhagic Disorder Due to a Coagulation Factors Defect 5
535 c RRH029 Rare Hemorrhagic Disorder Due to a Constitutional Coagulation Factors Defect 5
536 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
537 PLQ001 Plaque-Form Urticaria Pigmentosa 5
538 c SCK049 Sickle Cell Disease and Related Diseases 5
539 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 5
540 FNC063 Functional Neutrophil Defect 4
541 ATS435 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency 4
542 ATS436 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency 4
543 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 4
544 DNS011 Dense Granule Disease 4
545 DHY001 Dehydration Polycythemia 4
546 VTM034 Vitamin B12- and Folate-Independent Constitutional Megaloblastic Anemia 4
547 CNS010 Constitutional Dyserythropoietic Anemia 4
548 PRT104 Protein S Acquired Deficiency 3
549 CNS019 Constitutional Sideroblastic Anemia 3
550 CNG561 Congenital Vitamin K-Dependent Coagulation Factors Deficiency 3
551 MCR375 Macrophage or Histiocytic Tumor 2
552 QNT001 Quantitative and/or Qualitative Congenital Phagocyte Defect 2
553 FMR001 Femoral Vein Thrombophlebitis 15
554 PLM033 Pulmonary Embolism 60
555 STR067 Stroke, Ischemic 82
556 CMR002 Coumarin Resistance 56
557 LMR001 Lemierre's Syndrome 47
558 GLT018 Glut1 Deficiency Syndrome 1 42
559 P ANT006 Antiphospholipid Syndrome 56
560 URN003 Urinary Schistosomiasis 45
561 P THP004 Thiopurines, Poor Metabolism of, 1 44
562 c ANT041 Antiphospholipid Syndrome, Familial 22
563 c THP005 Thiopurines, Poor Metabolism of, 2 17
564 PRM285 Primitive Portal Vein Thrombosis 15
565 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
566 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 9
567 KTZ001 Kotzot-Richter Syndrome 8
568 ILC001 Iliac Vein Thrombophlebitis 8
569 SCH028 Schlegelberger Grote Syndrome 7
570 P PLM037 Pulmonary Hypertension 69
571 GTL001 Gitelman Syndrome 62
572 VRC005 Varicose Veins 61
573 CHR105 Choreoacanthocytosis 51
574 CRB138 Core Binding Factor Acute Myeloid Leukemia 43
575 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 41
576 P HYP769 Hyperlysinemia, Type I 38
577 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36
578 c PLM127 Pulmonary Hypertension, Primary, 3 33
579 CYT019 Cytogenetically Normal Acute Myeloid Leukemia 33
580 c PLM128 Pulmonary Hypertension, Primary, 2 29
581 c PLM121 Pulmonary Hypertension, Primary, 4 28
582 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 11
583 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 9
584 c RRP017 Rare Pulmonary Hypertension 6
585 CNN003 Conn's Syndrome 78
586 P HYP724 Hyperlipoproteinemia, Type Iii 74
587 P LVR013 Liver Disease 71
588 c CHR684 Chronic Kidney Disease 68
589 P VSC011 Vasculitis 64
590 P HYP370 Hypokalemic Periodic Paralysis, Type 1 62
591 c ACT071 Acute Kidney Failure 60
592 P LDD007 Liddle Syndrome 1 58
593 c ACT134 Acute Liver Failure 53
594 c HYP740 Hyperlipoproteinemia, Type V 53
595 c HYP739 Hyperlipoproteinemia, Type Iv 50
596 c INF145 Infantile Liver Failure Syndrome 1 50
597 c HYP768 Hyperlipoproteinemia, Type I 50
598 CLP006 Clopidogrel Resistance 41
599 c HYP606 Hypokalemic Periodic Paralysis, Type 2 35
600 c ATM104 Autoimmune Vasculitis 33
601 c LVR030 Liver Failure, Infantile, Transient 33
602 c INF138 Infantile Liver Failure Syndrome 2 25
603 c HYP819 Hyperlipoproteinemia, Type Id 22
604 c LDD008 Liddle Syndrome 2 20
605 c LDD009 Liddle Syndrome 3 18
606 c SCN082 Secondary Vasculitis 16
607 c RNL016 Renal Infectious Disease 12
608 c MCL042 Macular Degeneration, Age-Related, 1 88
609 c ART115 Aortic Valve Disease 1 76
610 PRP027 Peripheral Vascular Disease 72
611 P CRD119 Cardiac Arrest 71
612 c FML001 Familial Atrial Fibrillation 67
613 P ATR011 Atrial Fibrillation 67
614 NPH091 Nephrolithiasis, Calcium Oxalate 66
615 ANG054 Angina Pectoris 66
616 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 65
617 HYP020 Hyperprolactinemia 62
618 LNG099 Lung Disease 62
619 TRN015 Transient Cerebral Ischemia 62
620 c ART138 Aortic Aneurysm, Familial Abdominal, 1 62
621 c TYR012 Tyrosinemia, Type I 61
622 PRT058 Pure Autonomic Failure 60
623 LGG001 Legg-Calve-Perthes Disease 60
624 IRN002 Iron Metabolism Disease 58
625 TRG002 Trigeminal Neuralgia 58
626 BLR008 Bilirubin Metabolic Disorder 58
627 INT030 Intracranial Aneurysm 57
628 c NPH055 Nephrotic Syndrome, Type 1 56
629 P HYP024 Hypoparathyroidism 56
630 SHG001 Shigellosis 54
631 P TYR004 Tyrosinemia 54
632 c GLY005 Glycogen Storage Disease Vi 52
633 HYP074 Hypersensitivity Vasculitis 52
634 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
635 P PLG001 Pelger-Huet Anomaly 49
636 PRP009 Peripartum Cardiomyopathy 47
637 CRY004 Cryoglobulinemia 47
638 c NPH049 Nephrotic Syndrome, Type 2 45
639 PYR037 Pyruvate Carboxylase Deficiency 44
640 CRT046 Corticosteroid-Binding Globulin Deficiency 43
641 HYP003 Hypermethioninemia 42
642 c NPH054 Nephrotic Syndrome, Type 3 42
643 c TYR011 Tyrosinemia, Type Iii 41
644 c FML015 Familial Nephrotic Syndrome 40
645 c NPH070 Nephrotic Syndrome, Type 6 39
646 c MCL043 Macular Degeneration, Age-Related, 2 34
647 c NPH047 Nephrotic Syndrome, Type 4 32
648 c PST106 Post-Cardiac Arrest Syndrome 31
649 PRT112 Portal Hypertension, Noncirrhotic 31
650 c ATM068 Autoimmune Hypoparathyroidism 31
651 c NPH096 Nephrotic Syndrome, Type 12 28
652 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 28
653 c MCL078 Macular Degeneration, Age-Related, 14 28
654 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 27
655 c NPH076 Nephrotic Syndrome, Type 10 27
656 MYT019 May-Thurner Syndrome 27
657 c ATR038 Atrial Fibrillation, Familial, 3 26
658 c NPH102 Nephrotic Syndrome, Type 14 26
659 c MCL038 Macular Degeneration, Age-Related, 4 25
660 c NPH074 Nephrotic Syndrome, Type 9 25
661 c NPH073 Nephrotic Syndrome, Type 8 24
662 c ATR059 Atrial Fibrillation, Familial, 11 24
663 P MCL058 Macular Degeneration, Early-Onset 24
664 c MCL052 Macular Degeneration, Age-Related, 13 24
665 c ATR035 Atrial Fibrillation, Familial, 6 24
666 c ATR061 Atrial Fibrillation, Familial, 10 24
667 c MCL051 Macular Degeneration, Age-Related, 12 24
668 c NPH103 Nephrotic Syndrome, Type 15 24
669 c NPH095 Nephrotic Syndrome, Type 11 24
670 c NPH105 Nephrotic Syndrome, Type 17 24
671 c ATR037 Atrial Fibrillation, Familial, 7 23
672 c ATR072 Atrial Fibrillation, Familial, 13 23
673 c MCL077 Macular Degeneration, Age-Related, 5 22
674 c MCL030 Macular Degeneration, Age-Related, 10 22
675 c NPH106 Nephrotic Syndrome, Type 18 21
676 c ATR026 Atrial Fibrillation, Familial, 1 21
677 c ATR068 Atrial Fibrillation, Familial, 14 21
678 c ATR069 Atrial Fibrillation, Familial, 12 21
679 c MCL039 Macular Degeneration, Age-Related, 8 21
680 c NPH104 Nephrotic Syndrome, Type 16 20
681 P FML305 Familial Abdominal Aortic Aneurysm 20
682 c NPH107 Nephrotic Syndrome, Type 19 20
683 c MCL036 Macular Degeneration, Age-Related, 6 20
684 c ATR039 Atrial Fibrillation, Familial, 4 20
685 c MCL041 Macular Degeneration, Age-Related, 7 19
686 c MCL044 Macular Degeneration, Age-Related, 9 19
687 c NPH093 Nephrotic Syndrome, Type 13 19
688 c ATR070 Atrial Fibrillation, Familial, 9 18
689 ANG063 Angiolipomatosis, Familial 18
690 VNS012 Venous Thoracic Outlet Syndrome 18
691 c MCL032 Macular Degeneration, Age-Related, 11 18
692 FRS010 Forsythe-Wakeling Syndrome 17
693 c MCL065 Macular Degeneration, Age-Related, 15 17
694 c ATR027 Atrial Fibrillation, Familial, 5 15
695 c NPH108 Nephrotic Syndrome, Type 20 15
696 c ART151 Aortic Aneurysm, Familial Abdominal, 2 15
697 c ART152 Aortic Aneurysm, Familial Abdominal, 3 14
698 c PSD024 Pseudo Pelger-Huet Anomaly 14
699 c ATR025 Atrial Fibrillation, Familial, 2 13
700 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
701 c ATR028 Atrial Fibrillation, Familial, 8 13
702 c CNG590 Congenital and Infantile Nephrotic Syndrome 12
703 FYP001 Faye-Petersen-Ward-Carey Syndrome 7
704 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
705 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
706 c RRH010 Rare Hypoparathyroidism 6
707 HMT022 Hematological Disorder with Renal Involvement 3
708 NNR013 Non-Rare Hematologic Disease 3
709 RRD031 Rare Disorder Potentially Indicated for Hematopoietic Stem Cell Transplant 3
710 MYL069 Myeloma, Multiple 85
711 P ATX030 Ataxia-Telangiectasia 83
712 P APL001 Aplastic Anemia 76
713 KPS004 Kaposi Sarcoma 75
714 c HYP836 Hypercholesterolemia, Familial, 1 74
715 c ATM006 Autoimmune Lymphoproliferative Syndrome 73
716 c BTT014 Beta-Thalassemia 73
717 MYL009 Myelodysplastic Syndrome 72
718 P GRF003 Graft-Versus-Host Disease 71
719 ART016 Aortic Aneurysm 71
720 P BRG001 Brugada Syndrome 70
721 MNT001 Mantle Cell Lymphoma 69
722 CNG034 Congestive Heart Failure 69
723 c HMP029 Hemophilia a 69
724 CMM004 Common Variable Immunodeficiency 69
725 P LNG028 Long Qt Syndrome 68
726 c GLY008 Glycogen Storage Disease Ii 68
727 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 67
728 P BLD124 Bleeding Disorder, Platelet-Type, 11 66
729 c HMP004 Hemophilia B 66
730 OMN001 Omenn Syndrome 66
731 c LNG044 Long Qt Syndrome 1 66
732 FML089 Familial Thoracic Aortic Aneurysm and Dissection 65
733 c GCH015 Gaucher Disease, Type I 65
734 P HML002 Hemolytic Anemia 64
735 APN008 Apnea, Obstructive Sleep 64
736 P GCH001 Gaucher's Disease 63
737 c GLY060 Glycogen Storage Disease Ia 63
738 c SYS004 Systemic Mastocytosis 63
739 HYP066 Hyperglycemia 63
740 P MST009 Mastocytosis 62
741 P HMN010 Hemangioma 62
742 c GLY003 Glycogen Storage Disease Iii 62
743 DGR001 Digeorge Syndrome 61
744 ACQ007 Acquired Immunodeficiency Syndrome 61
745 P TXP001 Toxoplasmosis 61
746 DPH001 Diphtheria 61
747 c ANM038 Anemia, Autoimmune Hemolytic 61
748 DBT084 Diabetes Mellitus, Ketosis-Prone 60
749 HYP458 Hyper Ige Syndrome 60
750 c GLY004 Glycogen Storage Disease V 60
751 P MLG056 Malignant Hyperthermia 60
752 P ERY058 Erythrocytosis, Familial, 1 60
753 P GLY013 Glycogen Storage Disease 59
754 CHR063 Chronic Mucocutaneous Candidiasis 59
755 c GCH016 Gaucher Disease, Type Ii 59
756 CYC010 Cyclic Neutropenia 58
757 CYT008 Cytomegalovirus Infection 58
758 P HMP007 Hemophilia 58
759 RTN209 Retinoschisis 1, X-Linked, Juvenile 57
760 c LNG047 Long Qt Syndrome 2 57
761 FCT003 Factor X Deficiency 57
762 HMG005 Hemoglobinopathy 57
763 ACT200 Acute Monoblastic Leukemia 56
764 c ANM036 Anemia, Sideroblastic, 1 56
765 c CHR417 Chronic Graft Versus Host Disease 56
766 c GLY011 Glycogen Storage Disease Vii 55
767 CHL028 Childhood Type Dermatomyositis 55
768 c GCH017 Gaucher Disease, Type Iii 54
769 c GLY007 Glycogen Storage Disease Iv 54
770 CHR081 Choroideremia 54
771 P LYM025 Lymphedema 54
772 c HRM017 Hermansky-Pudlak Syndrome 2 54
773 PNC001 Pancytopenia 54
774 P MGL001 Megaloblastic Anemia 54
775 P SLM003 Salmonellosis 54
776 c FML191 Familial Long Qt Syndrome 54
777 NTR018 Neutrophilia, Hereditary 53
778 PRP036 Peripheral T-Cell Lymphoma 53
779 c ERY048 Erythrocytosis, Familial, 2 53
780 CMB003 Combined T Cell and B Cell Immunodeficiency 53
781 FCT006 Factor V Deficiency 53
782 P ATN002 Autonomic Nervous System Disease 52
783 FDL002 Food Allergy 52
784 PRT129 Prothrombin Deficiency, Congenital 52
785 P MNC007 Monocytic Leukemia 52
786 THR004 Thrombocytosis 52
787 P CTN015 Cutaneous T Cell Lymphoma 52
788 c PRM012 Primary Polycythemia 52
789 c CNG021 Congenital Toxoplasmosis 52
790 HYP063 Hypersplenism 51
791 P HRD012 Hereditary Elliptocytosis 50
792 BLD044 Bladder Disease 50
793 P ESN008 Eosinophilic Pneumonia 50
794 c BRG005 Brugada Syndrome 1 50
795 TRN022 Transcobalamin Ii Deficiency 50
796 c LNG048 Long Qt Syndrome 3 50
797 CRD137 Cardiogenic Shock 50
798 c VNW008 Von Willebrand Disease, Type 3 49
799 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
800 HYP006 Hypertensive Heart Disease 49
801 ANG046 Angioimmunoblastic T-Cell Lymphoma 49
802 c MGL018 Megaloblastic Anemia 1 49
803 PRD004 Prediabetes Syndrome 49
804 HPR003 Heparin-Induced Thrombocytopenia 49
805 SPL018 Splenomegaly 48
806 SPL012 Splenic Disease 48
807 ATN005 Autonomic Dysfunction 48
808 c GRS014 Griscelli Syndrome, Type 2 48
809 P BLD051 Blood Coagulation Disease 48
810 VTM002 Vitamin B12 Deficiency 48
811 HYP801 Hyperferritinemia with or Without Cataract 48
812 VCS001 Vici Syndrome 48
813 LPD004 Lipoid Nephrosis 48
814 RYN001 Raynaud Disease 48
815 PLM035 Pulmonary Eosinophilia 47
816 CMP042 Complement Factor H Deficiency 47
817 P CNG003 Congenital Dyserythropoietic Anemia 47
818 MYL013 Myeloperoxidase Deficiency 47
819 RCH001 Richter's Syndrome 47
820 c ACQ014 Acquired Hemophilia 47
821 CLD007 Cold Agglutinin Disease 47
822 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 47
823 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 47
824 P SDR003 Sideroblastic Anemia 47
825 GRN017 Granulocytopenia 46
826 c CHR037 Chronic Eosinophilic Pneumonia 46
827 SHH001 Sheehan Syndrome 46
828 c LNG051 Long Qt Syndrome 6 45
829 PLT004 Platelet Glycoprotein Iv Deficiency 45
830 PKL001 Poikiloderma with Neutropenia 45
831 ATN011 Autoinflammation with Infantile Enterocolitis 45
832 c LNG050 Long Qt Syndrome 5 45
833 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 45
834 P ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 45
835 CYN002 Cyanosis, Transient Neonatal 45
836 RDC006 Red Cell Aplasia 45
837 SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 44
838 AMB001 Amebiasis 44
839 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 44
840 c PSD048 Pseudo-Von Willebrand Disease 44
841 ART035 Arterial Calcification of Infancy 44
842 HMP001 Hemopericardium 44
843 PRS127 Pearson Marrow-Pancreas Syndrome 44
844 c CHR064 Chronic Monocytic Leukemia 43
845 AGG002 Aggressive Systemic Mastocytosis 43
846 c MLG147 Malignant Hyperthermia 1 43
847 c GMM003 Gamma Heavy Chain Disease 43
848 c GLY098 Glycogen Storage Disease, Type Ixd 42
849 SPT002 Septicemic Plague 41
850 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41
851 c LNG053 Long Qt Syndrome 9 41
852 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
853 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 41
854 c GRS013 Griscelli Syndrome, Type 1 41
855 P DYS021 Dysautonomia 41
856 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 41
857 P PRM293 Primary Mediastinal B-Cell Lymphoma 41
858 MST004 Mast Cell Neoplasm 40
859 HST016 Histiocytic Sarcoma 40
860 BLD054 Blood Protein Disease 40
861 c HMG029 Hemoglobin Se Disease 40
862 LCH001 Leech Infestation 40
863 QBC001 Quebec Platelet Disorder 39
864 ALD013 Aldosterone-Producing Adenoma 39
865 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 39
866 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 39
867 c LNG056 Long Qt Syndrome 12 39
868 c PRM327 Primary Lymphedema 39
869 RTN072 Retinohepatoendocrinologic Syndrome 39
870 c GLY044 Glycogen Storage Disease Ixc 38
871 c GLY016 Glycogen Storage Disease Ib 38
872 c LNG096 Long Qt Syndrome 15 38
873 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 38
874 P BCL004 B-Cell Non-Hodgkin Lymphoma 38
875 c BRG007 Brugada Syndrome 5 38
876 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 38
877 c GRS012 Griscelli Syndrome, Type 3 38
878 c HRD007 Hereditary Lymphedema 38
879 FTL004 Fetal Erythroblastosis 37
880 c TCL024 T-Cell Non-Hodgkin Lymphoma 37
881 CHR276 Chronic Active Epstein-Barr Virus Infection 37
882 MTH064 Methemoglobinemia, Beta-Globin Type 37
883 c LNG057 Long Qt Syndrome 13 37
884 MST001 Mast-Cell Sarcoma 37
885 c BLD152 Bleeding Disorder, Platelet-Type, 16 36
886 INT221 Intravascular Large B-Cell Lymphoma 36
887 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 36
888 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 36
889 AGM004 Agammaglobulinemia, Non-Bruton Type 36
890 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 36
891 IND016 Indolent B-Cell Non-Hodgkin Lymphoma 36
892 BLT003 Blue Toe Syndrome 36
893 c PRM299 Primary Cutaneous B-Cell Lymphoma 36
894 CVR010 Cavernous Malformation 36
895 c PRM149 Primary Hypereosinophilic Syndrome 35
896 c ELL005 Elliptocytosis 2 35
897 ACT177 Acute Basophilic Leukemia 35
898 KLL014 Kelley-Seegmiller Syndrome 35
899 c PRM301 Primary Cutaneous T-Cell Lymphoma 35
900 OST008 Osteosclerotic Myeloma 35
901 WLD007 Waldenstroem's Macroglobulinemia 35
902 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 35
903 MDS019 Mediastinal Malignant Lymphoma 35
904 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 35
905 PHS009 Phosphoglycerate Kinase Deficiency 35
906 GLT005 Glutamate Formiminotransferase Deficiency 35
907 INT038 Interdigitating Dendritic Cell Sarcoma 35
908 PDT001 Pediatric Lymphoma 35
909 NDL020 Nodal Marginal Zone B-Cell Lymphoma 34
910 OMS001 Omsk Hemorrhagic Fever 34
911 VRS001 Virus Associated Hemophagocytic Syndrome 34
912 FLC001 Folic Acid Deficiency Anemia 34
913 ATY012 Atypical Mycobacteriosis, Familial 34
914 MYL067 Myeloproliferative Disorder, Chronic, with Eosinophilia 34
915 c ELL006 Elliptocytosis 3 34
916 PLM007 Pulmonary Aspergilloma 33
917 c GLY097 Glycogen Storage Disease Ixb 33
918 c CNG439 Congenital Lymphedema 33
919 CMP001 Composite Lymphoma 33
920 IMM065 Immunodeficiency 10 33
921 HRD218 Hereditary Stomatocytosis 33
922 c HRD206 Hereditary Lymphedema Ii 32
923 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 32
924 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 32
925 c ERY065 Erythrocytosis, Familial, 7 32
926 TRC021 Tricuspid Valve Stenosis 32
927 c BRG006 Brugada Syndrome 2 32
928 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 32
929 c GCH013 Gaucher Disease, Type Iiic 32
930 RFR009 Refractory Cytopenia with Multilineage Dysplasia 32
931 RFR002 Refractory Hairy Cell Leukemia 32
932 BMB001 Bombay Phenotype 32
933 IMM212 Immunodeficiency by Defective Expression of Mhc Class I 31
934 ALK003 Aleukemic Leukemia Cutis 31
935 PRC051 Paracetamol Poisoning 31
936 c GLY057 Glycogen Storage Disease X 31
937 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 30
938 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 30
939 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 30
940 NTR006 Neutrophil Immunodeficiency Syndrome 30
941 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 30
942 BLD052 Blood Group Incompatibility 30
943 LFF001 Loeffler Endocarditis 30
944 FLL042 Folliculotropic Mycosis Fungoides 30
945 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
946 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 30
947 c BLD156 Bleeding Disorder, Platelet-Type, 14 29
948 c LNG098 Long Qt Syndrome 14 29
949 P SCK034 Sickle Beta Thalassemia 29
950 IMM066 Immunodeficiency 9 29
951 c GLY009 Glycogen Storage Disease Xv 29
952 c ADL001 Adult Lymphoma 29
953 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 29
954 PLM049 Plummer Vinson Syndrome 29
955 IMM095 Immunodeficiency 35 29
956 c GLY017 Glycogen Storage Disease Ic 29
957 ALP013 Alpha-Thalassemia Myelodysplasia Syndrome 29
958 c MLG151 Malignant Hyperthermia 5 28
959 QLT001 Qualitative Platelet Defect 28
960 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
961 c BRG003 Brugada Syndrome 3 28
962 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 28
963 SMH001 Sm-Ahnmd 28
964 c BLD154 Bleeding Disorder, Platelet-Type, 12 28
965 c ATR092 Atrial Fibrillation, Familial, 15 28
966 IMM071 Immunodeficiency 12 27
967 RFR007 Refractory Anemia with Excess Blasts in Transformation 27
968 c BRG010 Brugada Syndrome 8 27
969 c GLY023 Glycogen Storage Disease Type 0 27
970 c BRG004 Brugada Syndrome 4 27
971 IMM191 Immunodeficiency 56 27
972 PLS003 Plasmacytic Leukemia 26
973 c HRD202 Hereditary Lymphedema I 26
974 c GLY001 Glycogen Storage Disease Ix 26
975 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 26
976 CTN001 Cutaneous Solitary Mastocytoma 26
977 c BRG009 Brugada Syndrome 7 26
978 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 26
979 FCT032 Factor Xiii, a Subunit, Deficiency of 26
980 c LNG045 Long Qt Syndrome 10 25
981 7Q1002 7q11.23 Duplication Syndrome 25
982 FCL083 Ficolin 3 Deficiency 25
983 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 25
984 c GLY059 Glycogen Storage Disease Xiii 25
985 HMP028 Hemophagocytic Syndrome Associated with an Infection 25
986 c BLD125 Bleeding Disorder, Platelet-Type, 17 25
987 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 25
988 IMM077 Immunodeficiency 20 25
989 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
990 HSH001 Hashimoto-Pritzker Syndrome 25
991 c BRG012 Brugada Syndrome 9 24
992 IMM190 Immunodeficiency 55 24
993 c MLG148 Malignant Hyperthermia 2 24
994 IND003 Indolent Myeloma 24
995 RRD019 Rare Deficiency Anemia 24
996 CMP041 Complement Factor D Deficiency 24
997 IMM134 Immunodeficiency, Common Variable, 13 24
998 c LNG046 Long Qt Syndrome 11 23
999 c BLD127 Bleeding Disorder, Platelet-Type, 19 23
1000 MNC020 Monoclonal Mast Cell Activation Syndrome 23
1001 c ERY031 Erythrocytosis, Familial, 3 23
1002 c LNG052 Long Qt Syndrome 8 23
1003 NSL004 Nasal Cavity Lymphoma 23
1004 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23
1005 c THR023 Thrombophilia Due to Thrombomodulin Defect 23
1006 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 23
1007 c GLY006 Glycogen Storage Disease Viii 23
1008 CRT005 Cortical Thymoma 23
1009 CRB087 Cerebral Arteriosclerosis 23
1010 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 23
1011 CTR107 Cataract 13 with Adult I Phenotype 23
1012 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 23
1013 c ANM034 Anemia, Sideroblastic, 4 23
1014 ESN023 Eosinophilia, Familial 22
1015 c ERY064 Erythrocytosis, Familial, 6 22
1016 IMM150 Immunodeficiency 52 22
1017 TCL022 T-Cell Receptor-Alpha/beta Deficiency 22
1018 c BRG008 Brugada Syndrome 6 22
1019 c ERY067 Erythrocytosis, Familial, 8 22
1020 c BLD123 Bleeding Disorder, Platelet-Type, 13 22
1021 c MLG149 Malignant Hyperthermia 3 21
1022 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 21
1023 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 21
1024 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 21
1025 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 21
1026 GLL013 Gallbladder Lymphoma 21
1027 c MLG150 Malignant Hyperthermia 4 21
1028 c ATR085 Atrial Fibrillation, Familial, 18 21
1029 c BLD121 Bleeding Disorder, Platelet-Type, 15 21
1030 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1031 c GLY093 Glycogen Storage Disease Ixa 21
1032 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 21
1033 c NTR045 Neutropenia, Chronic Familial 20
1034 c ERY032 Erythrocytosis, Familial, 4 20
1035 c ADL093 Adult Acute Monocytic Leukemia 20
1036 IMM204 Immuno-Osseous Dysplasia 20
1037 MDS006 Mediastinal Gray Zone Lymphoma 20
1038 BSP001 Basophil Adenoma 20
1039 ALK017 Alk-Positive Large B-Cell Lymphoma 20
1040 IMM135 Immunodeficiency 46 20
1041 MNS002 Mini Stroke 20
1042 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 20
1043 LCH010 Lichtenstein Syndrome 20
1044 c MLG152 Malignant Hyperthermia 6 19
1045 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 19
1046 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 19
1047 c RRH032 Rare Hemolytic Anemia 19
1048 NKD001 Nik Deficiency 19
1049 SBL003 Subleukemic Leukemia 19
1050 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 19
1051 BND002 B- and T-Cell Mixed Leukemia 19
1052 EPS038 Episodic Angioedema with Eosinophilia 19
1053 THY006 Thymus Lymphoma 19
1054 IMM079 Immunodeficiency, Common Variable, 11 19
1055 STR007 Stress Polycythemia 18
1056 c ERY063 Erythrocytosis, Familial, 5 18
1057 PRM314 Primary Cutaneous Lymphoma 18
1058 HHV001 Hhv-6 Encephalitis 18
1059 TRC018 Tracheal Lymphoma 18
1060 TLN012 Telangiectasia Macularis Eruptiva Perstans 18
1061 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 18
1062 LNP001 Loin Pain Hematuria Syndrome 18
1063 ISL085 Isolated Agammaglobulinemia 17
1064 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 17
1065 CMB095 Combined T and B Cell Immunodeficiency 17
1066 TRN017 Transient Neonatal Neutropenia 16
1067 HYD045 Hydroa Vacciniforme-Like Lymphoma 16
1068 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 16
1069 c RFR015 Refractory Anemia with Excess Blasts Type 1 16
1070 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 16
1071 PRN002 Paranasal Sinus Lymphoma 15
1072 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 15
1073 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 14
1074 c ACQ053 Acquired Neutropenia 14
1075 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 14
1076 NNS057 Non-Severe Combined Immunodeficiency 14
1077 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 14
1078 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 13
1079 c SBC006 Subacute Leukemia 13
1080 CCM002 Cecum Lymphoma 13
1081 STR014 Sternum Lymphoma 13
1082 UNC008 Unclassified Myelodysplastic Syndrome 12
1083 MYL077 Myeloid Hemopathy 12
1084 c DYS194 Dysautonomia-Like Disorder 12
1085 c PSD023 Pseudo-Gaucher Disease 12
1086 URT017 Ureteral Lymphoma 11
1087 c SCN042 Secondary Hypereosinophilic Syndrome 11
1088 ALK014 Aleukemic Mast Cell Leukemia 11
1089 ISL033 Isolated Delta-Storage Pool Disease 11
1090 LYM117 Lymphocytic Hypereosinophilic Syndrome 11
1091 c HRD203 Hereditary Lymphedema Id 11
1092 TRN013 Transient Neonatal Thrombocytopenia 10
1093 c SBC015 Subacute Monocytic Leukemia 10
1094 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 10
1095 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 10
1096 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 9
1097 ALP049 Alopecia Antibody Deficiency 9
1098 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 9
1099 SVR074 Severe Combined Immunodeficiency Due to Ikk2 Deficiency 9
1100 c RRC006 Rare Acquired Hemolytic Anemia 9
1101 LYM152 Lymphoid Hemopathy 9
1102 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 9
1103 NTR053 Neutropenia-Monocytopenia-Deafness Syndrome 8
1104 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 8
1105 IMM215 Immunodeficiency-Associated Lymphoproliferative Disease 8
1106 SLT002 Solitary Plasmacytoma of Chest Wall 8
1107 PLY128 Polyclonal Hyperviscosity Syndrome 8
1108 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 8
1109 NDL018 Nodular Urticaria Pigmentosa 8
1110 PRM142 Primary Oculocerebral Lymphoma 8
1111 PRM148 Primary Lymphoma of the Conjunctiva 7
1112 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 7
1113 c RRF001 Rare Form of Salmonellosis 7
1114 c HRD100 Hereditary Lymphedema Ic 7
1115 c HRD204 Hereditary Lymphedema Ia 7
1116 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 7
1117 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 7
1118 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 7
1119 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1120 INT057 Intra-Abdominal Lymph Node Mast Cell Malignancy 6
1121 ANT036 Anti-Hla Hyperimmunization 6
1122 MYC091 Mycosis Fungoides and Variants 6
1123 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
1124 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
1125 c HRD205 Hereditary Lymphedema Ib 6
1126 ISL138 Isolated Hereditary Giant Platelet Disorder 6
1127 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
1128 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 6
1129 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1130 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
1131 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
1132 IMM217 Immunodeficiency Predominantly Affecting Antibody Production 5
1133 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 5
1134 c RRT016 Rare Autonomic Nervous System Disorder 5
1135 c RRC002 Rare Acquired Aplastic Anemia 5
1136 c HML056 Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes 5
1137 c HML057 Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies 5
1138 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 5
1139 TYP022 Typical Urticaria Pigmentosa 5
1140 PRM165 Primary Plasmacytoma of the Bone 5
1141 ATS434 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency 4
1142 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 4
1143 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 4
1144 SPC020 Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells 4
1145 DNR008 Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies 4
1146 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 4
1147 IMM052 Immunodeficiency Due to Absence of Thymus 4
1148 c RRD027 Rare Disease with Malignant Hyperthermia 4
1149 RRC023 Rare Constitutional Aplastic Anemia 4
1150 LYM154 Lymphoproliferative Disease Associated with Primary Immune Disease 4
1151 MTH001 Methotrexate-Associated Lymphoproliferation 4
1152 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 4
1153 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 4
1154 SYN115 Syndromic Agammaglobulinemia 4
1155 IMM203 Immune Dysregulation Disease with Immunodeficiency 3
1156 PRM300 Primary Immunodeficiency Due to a Defect in Adaptive Immunity 3
1157 IMM207 Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells 3
1158 OTH016 Other Immunodeficiency Syndrome with Predominantly Antibody Defects 3
1159 IMM208 Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells 3
1160 SVR102 Severe Combined Immunodeficiency Due to Carmil2 Deficiency 3
1161 IMM216 Immunodeficiency Due to a Complement Cascade Protein Anomaly 3
1162 GNT055 Genetic Susceptibility to Infections Due to Particular Pathogens 3
1163 ALP108 Alpha Granule Disease 3
1164 IMM205 Immunodeficiency Syndrome with Autoimmunity 3
1165 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
1166 RRC008 Rare Acquired Deficiency Anemia 3
1167 PRM313 Primary Organ-Specific Lymphoma 3
1168 OTH017 Other Immunodeficiency Syndromes Due to Defects in Innate Immunity 3
1169 ATN020 Autoinflammatory Syndrome with Immune Deficiency 3
1170 IMM210 Immunodeficiency Due to a Complement Cascade Component Deficiency 3
1171 IMM211 Immunodeficiency Due to a Complement Regulatory Deficiency 3
1172 PRM338 Primary Immunodeficiency Due to a Defect in Innate Immunity 3
1173 CNS014 Constitutional Deficiency Anemia 2
1174 HST023 Histiocytic and Dendritic Cell Tumor 2
1175 VSC006 Vascular Cancer 52
1176 c DLT002 Dilated Cardiomyopathy 81
1177 P VSC007 Vascular Disease 65
1178 c CRD099 Cardiomyopathy, Dilated, 1e 56
1179 THR013 Thoracic Outlet Syndrome 49
1180 c CRD097 Cardiomyopathy, Dilated, 1d 46
1181 c CRD187 Cardiomyopathy, Dilated, 3b 45
1182 P RRC004 Rare Cardiomyopathy 43
1183 c CRD093 Cardiomyopathy, Dilated, 1a 43
1184 c CRD233 Cardiomyopathy, Dilated, 1b 43
1185 c CRD105 Cardiomyopathy, Dilated, 1o 39
1186 c CRD104 Cardiomyopathy, Dilated, 1p 33
1187 c CRD155 Cardiomyopathy, Dilated, 1kk 32
1188 c CRD102 Cardiomyopathy, Dilated, 1j 32
1189 c CRD069 Cardiomyopathy, Dilated, 1h 31
1190 c CRD080 Cardiomyopathy, Dilated, 1g 29
1191 c CRD107 Cardiomyopathy, Dilated, 1r 28
1192 c ATM102 Autoimmune Cardiomyopathy 27
1193 c CRD091 Cardiomyopathy, Dilated, 1dd 26
1194 c CRD159 Cardiomyopathy, Dilated, 1hh 25
1195 c CRD149 Cardiomyopathy, Dilated, 1jj 24
1196 c CRD101 Cardiomyopathy, Dilated, 1x 24
1197 c CRD090 Cardiomyopathy, Dilated, 1l 24
1198 c CRD092 Cardiomyopathy, Dilated, 1w 24
1199 c CRD114 Cardiomyopathy, Dilated, 1m 24
1200 c CRD115 Cardiomyopathy, Dilated, 1cc 23
1201 c CRD162 Cardiomyopathy, Dilated, 1ii 23
1202 c CRD153 Cardiomyopathy, Dilated, 2b 22
1203 c CRD082 Cardiomyopathy, Dilated, 1gg 22
1204 c CRD063 Cardiomyopathy, Dilated, 2a 22
1205 c CRD111 Cardiomyopathy, Dilated, 1i 21
1206 c CRD173 Cardiomyopathy, Dilated, 1nn 21
1207 c CRD060 Cardiomyopathy, Dilated, 1z 21
1208 c CRD096 Cardiomyopathy, Dilated, 1ee 21
1209 c CRD112 Cardiomyopathy, Dilated, 1u 21
1210 c CRD113 Cardiomyopathy, Dilated, 1v 20
1211 c CRD108 Cardiomyopathy, Dilated, 1bb 20
1212 c CRD244 Cardiomyopathy, Dilated, 2c 19
1213 c CRD064 Cardiomyopathy, Dilated, 1ff 19
1214 c RRV009 Rare Vascular Disease 16
1215 c DLT017 Dilated Cardiomyopathy 1t 14
1216 c CRD070 Cardiomyopathy, Dilated, 1k 13
1217 c CRD071 Cardiomyopathy, Dilated, 1q 13
1218 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 12
1219 c CRD027 Cardiomyopathy Due to Anthracyclines 6
1220 P BLD134 Bladder Cancer 79
1221 PLM134 Pulmonary Fibrosis, Idiopathic 77
1222 c BLD008 Bladder Carcinoma in Situ 34
1223 P GST053 Gastric Cancer 85
1224 c PLM164 Pulmonary Hypertension, Primary, 1 79
1225 P RSP003 Respiratory Failure 75
1226 P ART005 Arteriovenous Malformation 63
1227 P CRG003 Crigler-Najjar Syndrome, Type I 61
1228 P PTN014 Patent Ductus Arteriosus 1 60
1229 HYP780 Hypoadrenocorticism, Familial 60
1230 HYP052 Hyperkalemic Periodic Paralysis 59
1231 ERY029 Erythermalgia, Primary 58
1232 c SVR001 Severe Acute Respiratory Syndrome 56
1233 P RST002 Restrictive Cardiomyopathy 55
1234 P LFT003 Left Ventricular Noncompaction 55
1235 GYR004 Gyrate Atrophy of Choroid and Retina 52
1236 FRC011 Fructose Intolerance, Hereditary 52
1237 HST006 Histidinemia 49
1238 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
1239 P HYP111 Hyperprolinemia 39
1240 c LFT021 Left Ventricular Noncompaction 1 35
1241 c HYP248 Hyperprolinemia, Type I 31
1242 c HYP597 Hyperprolinemia, Type Ii 31
1243 c CRD176 Cardiomyopathy, Familial Restrictive, 1 29
1244 c LFT017 Left Ventricular Noncompaction 8 28
1245 BNM005 Bone Marrow Necrosis 26
1246 c LFT018 Left Ventricular Noncompaction 10 25
1247 c CRD098 Cardiomyopathy, Familial Restrictive, 3 25
1248 c HRD215 Hereditary Gastric Cancer 23
1249 c LFT020 Left Ventricular Noncompaction 7 21
1250 c LFT011 Left Ventricular Noncompaction 2 17
1251 c CRD057 Cardiomyopathy, Familial Restrictive, 2 15
1252 c RRR004 Rare Arteriovenous Malformation 10
1253 IMM167 Immune Deficiency Disease 79
1254 DFC004 Deficiency Anemia 77
1255 SVR004 Severe Combined Immunodeficiency 74
1256 SCK003 Sickle Cell Anemia 74
1257 ACR006 Aceruloplasminemia 74
1258 P KDN018 Kidney Disease 73
1259 CRB039 Cerebrovascular Disease 71
1260 MLT157 Multiple System Atrophy 1 71
1261 P NJM001 Nijmegen Breakage Syndrome 70
1262 PLY001 Polycythemia Vera 70
1263 P CHR012 Chronic Granulomatous Disease 69
1264 MYL005 Myelofibrosis 69
1265 P LKM062 Leukemia, Acute Lymphoblastic 68
1266 P HYP098 Hypereosinophilic Syndrome 67
1267 c FML021 Familial Hypercholesterolemia 67
1268 P FLL037 Follicular Lymphoma 67
1269 P THR014 Thrombocytopenia 67
1270 MYC006 Mycosis Fungoides 67
1271 P AGM001 Agammaglobulinemia 66
1272 P PLM036 Pulmonary Fibrosis 66
1273 P NPH012 Nephrotic Syndrome 65
1274 FCT007 Factor Vii Deficiency 65
1275 P DYS007 Dyskeratosis Congenita 64
1276 P VNW001 Von Willebrand's Disease 64
1277 c ALP101 Alpha-Thalassemia 63
1278 SVR066 Severe Combined Immunodeficiency, X-Linked 62
1279 OST003 Osteonecrosis 62
1280 P THL005 Thalassemia 62
1281 INT066 Interstitial Lung Disease 61
1282 P BCL017 B-Cell Lymphoma 61
1283 P ADL010 Adult Respiratory Distress Syndrome 61
1284 IMM174 Immunodeficiency with Hyper-Igm, Type 1 60
1285 LNG108 Langerhans Cell Histiocytosis 60
1286 HYP810 Hypereosinophilic Syndrome, Idiopathic 60
1287 c ACT073 Acute Leukemia 59
1288 FCT002 Factor Xi Deficiency 59
1289 c ACT210 Acute Respiratory Distress Syndrome 59
1290 P WLF004 Wolfram Syndrome 58
1291 c VNW010 Von Willebrand Disease, Type 2 58
1292 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 58
1293 LYM027 Lymphopenia 58
1294 ERY051 Erythroleukemia, Familial 58
1295 c LKM060 Leukemia, Acute Lymphoblastic 3 57
1296 PLS011 Plasmacytoma 57
1297 PTN001 Patent Foramen Ovale 57
1298 PMS001 Poems Syndrome 57
1299 P LYM031 Lymphocytic Leukemia 56
1300 P PLY018 Polycythemia 56
1301 c WLF013 Wolfram Syndrome 1 56
1302 HNC001 Henoch-Schoenlein Purpura 56
1303 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55
1304 CYS010 Cystinosis 55
1305 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 55
1306 LG4001 Lig4 Syndrome 55
1307 PLC005 Placental Insufficiency 55
1308 c LKM070 Leukemia, Acute Monocytic 55
1309 PST046 Post-Transplant Lymphoproliferative Disease 55
1310 PRM042 Primary Effusion Lymphoma 55
1311 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 55
1312 P HML001 Hemolytic-Uremic Syndrome 54
1313 INF034 Infective Endocarditis 53
1314 CTS003 Coats Disease 53
1315 P CNT005 Central Nervous System Lymphoma 52
1316 P HMG032 Hemoglobin H Disease 52
1317 c CHR418 Chronic Leukemia 52
1318 ORT008 Orotic Aciduria 51
1319 P THR015 Thrombophilia 51
1320 FLT011 Felty Syndrome 51
1321 VRC001 Varicocele 51
1322 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 51
1323 BLD053 Blood Platelet Disease 51
1324 c TCL005 T-Cell Prolymphocytic Leukemia 50
1325 P PLM006 Pulmonary Alveolar Proteinosis 50
1326 CHL152 Childhood Acute Lymphocytic Leukemia 50
1327 c FLL041 Follicular Lymphoma 1 50
1328 c THR071 Thrombocytopenia 1 50
1329 c PRM226 Primary Central Nervous System Lymphoma 50
1330 c LKM056 Leukemia, Chronic Lymphocytic 2 49
1331 c VNW005 Von Willebrand Disease, Type 1 49
1332 CHL061 Childhood Leukemia 49
1333 P RNL007 Renal Tubular Acidosis 49
1334 TRC062 Tricuspid Atresia 49
1335 JCB001 Jacobsen Syndrome 48
1336 c CNG027 Congenital Hemolytic Anemia 48
1337 c HYP837 Hypercholesterolemia, Familial, 2 48
1338 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 48
1339 ACT113 Acute Myeloblastic Leukemia with Maturation 48
1340 LYM051 Lymphomatoid Granulomatosis 47
1341 ZKF001 Zika Fever 46
1342 c HYP840 Hypercholesterolemia, Familial, 4 46
1343 CNG028 Congenital Hypoplastic Anemia 46
1344 TWN001 Twin-to-Twin Transfusion Syndrome 46
1345 OBS037 Obesity-Hypoventilation Syndrome 46
1346 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 46
1347 P RTN014 Retinal Artery Occlusion 46
1348 PRL017 Prolymphocytic Leukemia 45
1349 SBC012 Subcorneal Pustular Dermatosis 45
1350 c PRM038 Primary Agammaglobulinemia 45
1351 STR089 Storage Pool Platelet Disease 45
1352 RTC009 Reticulum Cell Sarcoma 45
1353 CTS005 Catastrophic Antiphospholipid Syndrome 44
1354 c HYP272 Hypercholesterolemia, Familial, 3 44
1355 NTR003 Natural Killer Cell Leukemia 44
1356 CLL014 Cll/sll 44
1357 BCL002 B Cell Deficiency 44
1358 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 44
1359 THY009 Thyroid Lymphoma 43
1360 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 43
1361 c HMG003 Hemoglobin E Disease 43
1362 LKC003 Leukocyte Disease 43
1363 LYM052 Lymphomatoid Papulosis 43
1364 c HMG001 Hemoglobin C Disease 43
1365 c ACQ010 Acquired Polycythemia 43
1366 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 43
1367 LGH004 Light Chain Deposition Disease 43
1368 c ACQ017 Acquired Von Willebrand Syndrome 42
1369 c ADL052 Adult Acute Lymphocytic Leukemia 42
1370 RTR011 Retroperitoneal Fibrosis 41
1371 GLY015 Glycine N-Methyltransferase Deficiency 41
1372 P FML156 Familial Hyperaldosteronism 41
1373 PLS016 Plasma Cell Leukemia 41
1374 DND018 Dendritic Cell Tumor 41
1375 c LYM107 Lymphoproliferative Syndrome 2 41
1376 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 41
1377 TNP004 Tn Polyagglutination Syndrome 41
1378 c CNG002 Congenital Bile Acid Synthesis Defect 40
1379 c CNT028 Central Retinal Artery Occlusion 40
1380 c DYS165 Dysfibrinogenemia, Congenital 40
1381 HMN035 Hemangioma-Thrombocytopenia Syndrome 40
1382 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 39
1383 HNZ004 Heinz Body Anemias 39
1384 LVD003 Livedoid Vasculitis 39
1385 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 39
1386 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 38
1387 WGN003 Wagner Syndrome 38
1388 LNG013 Lung Lymphoma 38
1389 P HVY001 Heavy Chain Disease 38
1390 NDL024 Nodal Marginal Zone Lymphoma 37
1391 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 37
1392 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 37
1393 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 37
1394 GRH001 Gorham's Disease 36
1395 c WLF009 Wolfram Syndrome 2 36
1396 c LYM106 Lymphoproliferative Syndrome 1 36
1397 SLT001 Solitary Osseous Plasmacytoma 36
1398 CNT018 Central Nervous System Leukemia 36
1399 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1400 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 36
1401 P TRN016 Transient Hypogammaglobulinemia 36
1402 LTT002 Letterer-Siwe Disease 36
1403 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 36
1404 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 36
1405 TRN030 Transient Erythroblastopenia of Childhood 35
1406 MTR008 Mature B-Cell Neoplasm 35
1407 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 35
1408 INT020 Intravenous Leiomyomatosis 35
1409 c ACQ005 Acquired Thrombocytopenia 34
1410 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 34
1411 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 34
1412 HMC038 Hemochromatosis, Neonatal 34
1413 OVL001 Ovalocytosis, Southeast Asian 34
1414 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
1415 CMP040 Complement Component 4, Partial Deficiency of 34
1416 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 34
1417 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 34
1418 c HMG004 Hemoglobin D Disease 34
1419 P BNL002 Bone Lymphoma 33
1420 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 33
1421 c MNS014 Monosomy 22 33
1422 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 33
1423 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1424 BCL008 B-Cell Childhood Acute Lymphoblastic Leukemia 33
1425 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 33
1426 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1427 BLD028 Bladder Lymphoma 32
1428 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 32
1429 IMM070 Immunodeficiency 13 32
1430 CLN005 Colon Lymphoma 32
1431 c TRN009 Transient Hypogammaglobulinemia of Infancy 31
1432 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
1433 CNG134 Congenitally Corrected Transposition of the Great Arteries 31
1434 TKN001 Takenouchi-Kosaki Syndrome 31
1435 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
1436 HGH020 High Molecular Weight Kininogen Deficiency 31
1437 c INH004 Inherited Blood Coagulation Disease 31
1438 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 31
1439 IMM143 Immunodeficiency 48 30
1440 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1441 PRK005 Prekallikrein Deficiency 30
1442 c LYM151 Lymphoproliferative Syndrome 3 30
1443 CD8002 Cd8 Deficiency, Familial 30
1444 NNT007 Neonatal Leukemia 30
1445 c CNG020 Congenital Hypogammaglobulinemia 30
1446 IMM068 Immunodeficiency 8 30
1447 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
1448 PRS002 Prostate Lymphoma 29
1449 c THR110 Thrombocytopenia 6 29
1450 ACD001 Acidophil Adenoma 29
1451 PRX008 Paroxysmal Cold Hemoglobinuria 29
1452 HST008 Histiocytic and Dendritic Cell Cancer 28
1453 CLS052 Classic Hairy Cell Leukemia 28
1454 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 28
1455 ATS208 Autosomal Dominant Macrothrombocytopenia 28
1456 c BLD120 Bleeding Disorder, Platelet-Type, 8 27
1457 GRN032 Granulomatous Slack Skin Disease 27
1458 IMM180 Immunodeficiency 28 27
1459 SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 27
1460 RFR004 Refractory Hematologic Cancer 27
1461 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 27
1462 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 27
1463 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
1464 EPT007 Epithelial Malignant Thymoma 27
1465 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 27
1466 c MLG144 Malignant Hemangioma 26
1467 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 26
1468 c PTN012 Patent Ductus Arteriosus 3 26
1469 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 26
1470 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 26
1471 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 26
1472 UNC014 Unicentric Castleman Disease 26
1473 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 26
1474 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 26
1475 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 26
1476 IMM183 Immunodeficiency 32a 26
1477 TBS010 T-B- Severe Combined Immunodeficiency 25
1478 c MNS008 Monosomy 21 25
1479 IMM075 Immunodeficiency 22 25
1480 BRR004 Baroreflex Failure 25
1481 IMM176 Immunodeficiency with Hyper-Igm, Type 5 25
1482 c BLD157 Bleeding Disorder, Platelet-Type, 9 25
1483 IMM181 Immunodeficiency 29 25
1484 IMM142 Immunodeficiency 50 24
1485 P ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 24
1486 c PLM044 Pulmonary Fibrosis, Familial 24
1487 MSP001 Masp2 Deficiency 24
1488 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 24
1489 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 24
1490 c ATS420 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations 24
1491 ACT176 Acute Panmyelosis with Myelofibrosis 24
1492 IMM076 Immunodeficiency 24 24
1493 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 24
1494 c ADL080 Adult Acute Respiratory Distress Syndrome 24
1495 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 23
1496 P PLM064 Pulmonary Sequestration 23
1497 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 23
1498 c BNM032 Bone Marrow Failure Syndrome 4 23
1499 IMM099 Immunodeficiency 33 23
1500 IMM186 Immunodeficiency 27b 23
1501 IMM118 Immunodeficiency 42 23
1502 AGG011 Aggressive B-Cell Non-Hodgkin Lymphoma 23
1503 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 23
1504 c SCN051 Secondary Pulmonary Alveolar Proteinosis 23
1505 TMP008 Tempi Syndrome 22
1506 SPC022 Specific Antibody Deficiency 22
1507 c BNM011 Bone Marrow Failure Syndrome 2 22
1508 c CNG578 Congenital Hemangioma 22
1509 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1510 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 22
1511 c PTN013 Patent Ductus Arteriosus 2 22
1512 c TCL008 T-Cell Lymphoma 1a 22
1513 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 21
1514 P FML048 Familial Avascular Necrosis of the Femoral Head 21
1515 c BNM033 Bone Marrow Failure Syndrome 5 21
1516 SLC003 Selective Igm Deficiency Disease 21
1517 WRM004 Warm Antibody Hemolytic Anemia 20
1518 RFM002 Roifman-Chitayat Syndrome 20
1519 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 20
1520 c BLD133 Bleeding Disorder, Platelet-Type, 20 20
1521 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 20
1522 c PRM151 Primary Bone Lymphoma 20
1523 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 20
1524 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 20
1525 P DSR081 Disorder of Bile Acid Synthesis 19
1526 c ACQ004 Acquired Hemangioma 19
1527 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 19
1528 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 19
1529 c CNG121 Congenital Pulmonary Alveolar Proteinosis 19
1530 MLY011 Maleylacetoacetate Isomerase Deficiency 19
1531 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 19
1532 TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 18
1533 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 18
1534 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 18
1535 KPS005 Kaposiform Lymphangiomatosis 18
1536 P ATS469 Autosomal Monosomy 18
1537 c MNS011 Monosomy 9q22.3 17
1538 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
1539 MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 17
1540 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 17
1541 c LKM055 Leukemia, Acute Lymphoblastic 2 17
1542 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 16
1543 IMM130 Immunoneurologic Disorder, X-Linked 16
1544 RRC033 Rare Coagulation Disorder 16
1545 ERY007 Erythropoietin Polycythemia 16
1546 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 16
1547 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
1548 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 15
1549 APP002 Appendix Lymphoma 15
1550 c ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 15
1551 c RNL117 Renal Tubular Acidosis Iii 14
1552 LGH014 Light and Heavy Chain Deposition Disease 14
1553 ACT179 Acute Myeloid Leukemia with 11q23 Abnormalities 14
1554 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 14
1555 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 13
1556 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
1557 c LKM052 Leukemia, Chronic Lymphocytic 5 13
1558 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 13
1559 ACQ051 Acquired Prothrombin Deficiency 13
1560 PNC007 Pancreas Lymphoma 12
1561 RCT002 Rectum Lymphoma 12
1562 c LKM053 Leukemia, Chronic Lymphocytic 4 12
1563 WHT007 White Platelet Syndrome 12
1564 ISL032 Isolated Bone Marrow Mastocytosis 12
1565 c LKM051 Leukemia, Chronic Lymphocytic 3 11
1566 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 11
1567 HMG024 Hemoglobinopathy Toms River 11
1568 c PRM152 Primary Renal Tubular Acidosis 11
1569 RFR001 Refractory Plasma Cell Neoplasm 11
1570 ALK002 Aleukemic Monocytic Leukemia Cutis 11
1571 BLL014 Bullous Diffuse Cutaneous Mastocytosis 11
1572 c LKM050 Leukemia, Chronic Lymphocytic 1 11
1573 c CNG257 Congenital Pulmonary Sequestration 10
1574 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 10
1575 c FML317 Familial Monosomy 7 Syndrome 10
1576 c LCL003 Localized Pulmonary Fibrosis 10
1577 c RRP004 Rare Primary Hyperaldosteronism 10
1578 CVR004 Cavernous Hemangioma of Colon 9
1579 TMR024 Tumor of Hematopoietic and Lymphoid Tissues 9
1580 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 9
1581 UNS001 Unstable Hemoglobin Disease 9
1582 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 9
1583 MDC003 Medich Giant Platelet Syndrome 8
1584 BTT010 Beta-Thalassemia Associated with Another Hemoglobin Anomaly 8
1585 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
1586 c ALP107 Alpha-Thalassemia and Related Diseases 7
1587 c RRH022 Rare Hereditary Thrombophilia 7
1588 ANS007 Anus Lymphoma 6
1589 SCK036 Sickle Cell Disease Associated with an Other Hemoglobin Anomaly 6
1590 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 6
1591 c FML158 Familial Hemangioma 6
1592 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 6
1593 c ATY048 Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 6
1594 c BTT015 Beta-Thalassemia and Related Diseases 5
1595 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 5
1596 P RRH027 Rare Hypercholesterolemia 5
1597 c ATS423 Autosomal Dominant Wolfram Syndrome 5
1598 ISL142 Isolated Constitutional Thrombocytopenia 5
1599 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 5
1600 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 5
1601 P CNS016 Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder 5
1602 c RRC031 Rare Constitutional Hemolytic Anemia Due to an Enzyme Disorder 5
1603 IMM197 Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome 5
1604 c TTL014 Total Autosomal Monosomy 4
1605 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
1606 CNG172 Congenital Vascular Cavernous Malformations 4
1607 VSC022 Vascular Erectile Tumor 4
1608 P RRC007 Rare Constitutional Hemolytic Anemia 4
1609 CLS019 Classic Mast Cell Leukemia 4
1610 MYL076 Myeloid/lymphoid Neoplasms Associated with Eosinophilia and Abnormality of Pdgfra, Pdgfrb or Fgfr1 4
1611 c CNS020 Constitutional Anemia Due to Iron Metabolism Disorder 4
1612 c RRT008 Rare Thrombotic Disorder Due to an Acquired Coagulation Factors Defect 3
1613 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 3
1614 BTT008 Beta-Thalassemia with Other Manifestations 3
1615 SYN123 Syndromic Constitutional Thrombocytopenia 3
1616 c CNS017 Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder 3
1617 P RRC005 Rare Constitutional Anemia 3
1618 RRT004 Rare Thrombotic Disease of Hematologic Origin 3
1619 PRM326 Primary Immunodeficiency with Predisposition to Severe Viral Infection 3
1620 IMM213 Immune Dysregulation with Inflammatory Bowel Disease 3
1621 CNS015 Constitutional Neutropenia with Extra-Hematopoietic Manifestations 3
1622 c RRC032 Rare Constitutional Hemolytic Anemia Due to a Red Cell Membrane Anomaly 3
1623 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
1624 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 24
1625 P PHC003 Pheochromocytoma 71
1626 P HYP061 Hypertrophic Cardiomyopathy 68
1627 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68
1628 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 54
1629 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 48
1630 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 43
1631 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 42
1632 c MLG157 Malignant Pheochromocytoma 40
1633 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 39
1634 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 37
1635 c SPR094 Sporadic Pheochromocytoma 33
1636 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 32
1637 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 30
1638 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 29
1639 c CRD219 Cardiomyopathy, Infantile Hypertrophic 29
1640 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 29
1641 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 28
1642 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 28
1643 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 28
1644 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 27
1645 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 27
1646 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 27
1647 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 26
1648 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 26
1649 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 26
1650 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 25
1651 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 24
1652 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
1653 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
1654 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 5
1655 P CLR023 Colorectal Cancer 100
1656 P WSK001 Wiskott-Aldrich Syndrome 71
1657 P FML018 Familial Mediterranean Fever 70
1658 c WLM013 Wilms Tumor 1 69
1659 c EXD008 Exudative Vitreoretinopathy 1 69
1660 LYM007 Lymphangioleiomyomatosis 67
1661 P BRL012 Bare Lymphocyte Syndrome, Type Ii 66
1662 GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64
1663 HMT002 Hematologic Cancer 64
1664 CNC002 Cinca Syndrome 63
1665 c WLM018 Wilms Tumor 5 63
1666 PPL049 Papillon-Lefevre Syndrome 63
1667 LYM012 Lymphoplasmacytic Lymphoma 62
1668 c AFB002 Afibrinogenemia, Congenital 62
1669 P LYM033 Lymphoproliferative Syndrome 62
1670 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
1671 c PSD108 Pseudohypoparathyroidism, Type Ia 61
1672 TKY002 Takayasu Arteritis 61
1673 P BRN019 Bernard-Soulier Syndrome 60
1674 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1675 P CTS001 Cutis Laxa 60
1676 STF001 Stiff-Person Syndrome 60
1677 ANG020 Angiosarcoma 59
1678 SZR001 Sezary's Disease 59
1679 c SVR003 Severe Congenital Neutropenia 59
1680 GRY002 Gray Platelet Syndrome 59
1681 IRN001 Iron Deficiency Anemia 59
1682 DSS009 Disseminated Intravascular Coagulation 58
1683 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
1684 STR081 Stormorken Syndrome 58
1685 CHN016 Cohen Syndrome 57
1686 ANT009 Antithrombin Iii Deficiency 57
1687 P EXD001 Exudative Vitreoretinopathy 56
1688 DBT010 Diabetic Neuropathy 56
1689 WHM001 Whim Syndrome 55
1690 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 55
1691 PRP082 Porphyria, Congenital Erythropoietic 55
1692 MRG003 Marginal Zone B-Cell Lymphoma 55
1693 P PSD015 Pseudohypoparathyroidism 54
1694 P HST010 Histiocytosis 54
1695 FCT004 Factor Xii Deficiency 54
1696 P HYP050 Hyperinsulinemic Hypoglycemia 54
1697 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54
1698 P MYS079 Miyoshi Muscular Dystrophy 53
1699 SPR004 Supravalvular Aortic Stenosis 52
1700 BRT005 Barth Syndrome 52
1701 c MYS033 Miyoshi Muscular Dystrophy 1 52
1702 RVS001 Revesz Syndrome 52
1703 c MLG054 Malignant Histiocytosis 51
1704 HYP088 Hyper-Igd Syndrome 51
1705 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 51
1706 HYP081 Hypolipoproteinemia 51
1707 IRK001 Irak4 Deficiency 51
1708 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
1709 URC002 Urea Cycle Disorder 51
1710 IMM064 Immunodeficiency, Common Variable, 10 51
1711 c PSD066 Pseudohypoparathyroidism, Type Ib 51
1712 MYD002 Myd88 Deficiency 50
1713 FCT005 Factor Xiii Deficiency 50
1714 CSP005 Caspase 8 Deficiency 50
1715 PRT014 Protein S Deficiency 50
1716 ATY042 Atypical Chronic Myeloid Leukemia 50
1717 HMG002 Hemoglobinuria 49
1718 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 49
1719 INT017 Intestinal Schistosomiasis 49
1720 MST002 Mast-Cell Leukemia 49
1721 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
1722 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 49
1723 CRY008 Cryopyrin-Associated Periodic Syndrome 48
1724 SPL004 Splenic Marginal Zone Lymphoma 48
1725 CHR001 Churg-Strauss Syndrome 48
1726 PLS025 Plasmablastic Lymphoma 48
1727 c FML053 Familial Colorectal Cancer 48
1728 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 48
1729 P KRN004 Kernicterus 47
1730 HRP009 Herpes Simplex Encephalitis 47
1731 HNN001 Hennekam Syndrome 47
1732 TTR005 Tetrahydrobiopterin Deficiency 47
1733 RDD003 Riddle Syndrome 46
1734 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 46
1735 CMP004 Complement Factor I Deficiency 46
1736 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 46
1737 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 45
1738 NNK001 Nonaka Myopathy 45
1739 MYH015 Myh-9 Related Disease 45
1740 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 45
1741 ASP026 Asplenia, Isolated Congenital 45
1742 c CTS045 Cutis Laxa, Autosomal Dominant 1 44
1743 EVN001 Evans' Syndrome 44
1744 TRS021 Triosephosphate Isomerase Deficiency 44
1745 c BRL011 Bare Lymphocyte Syndrome, Type I 44
1746 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 43
1747 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 43
1748 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 43
1749 c MYS014 Miyoshi Muscular Dystrophy 3 43
1750 IMM105 Immunodeficiency with Hyper-Igm, Type 3 43
1751 NCT003 N-Acetylglutamate Synthase Deficiency 42
1752 IMM015 Immune Defect Due to Absence of Thymus 42
1753 RTN021 Retinal Vascular Occlusion 42
1754 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
1755 FLL013 Follicular Dendritic Cell Sarcoma 42
1756 GST020 Gastric Antral Vascular Ectasia 42
1757 P 8P1002 8p11 Myeloproliferative Syndrome 41
1758 c FML253 Familial Cold Autoinflammatory Syndrome 3 41
1759 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 41
1760 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 40
1761 PLM068 Pulmonary Vein Stenosis 40
1762 FML330 Familial Lcat Deficiency 40
1763 c CLR085 Colorectal Cancer 1 40
1764 GDS001 Good Syndrome 40
1765 P BCL005 B Cell Prolymphocytic Leukemia 40
1766 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 40
1767 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
1768 c MYL058 Myeloproliferative Syndrome, Transient 39
1769 IMM104 Immunodeficiency with Hyper-Igm, Type 2 39
1770 c HRM011 Hermansky-Pudlak Syndrome 8 39
1771 EXT007 Extracutaneous Mastocytoma 39
1772 IMM166 Immunodeficiency 27a 39
1773 HYP223 Hypoplastic Right Heart Syndrome 38
1774 MJD001 Majeed Syndrome 38
1775 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 38
1776 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 38
1777 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1778 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1779 c WLM011 Wilms Tumor 6 38
1780 SML008 Small Intestine Lymphoma 37
1781 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 37
1782 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1783 CHR286 Chronic Neutrophilic Leukemia 36
1784 c FML311 Familial Colorectal Cancer Type X 36
1785 GLY032 Glycosylphosphatidylinositol Deficiency 36
1786 c CLR087 Colorectal Cancer 12 35
1787 c HRM010 Hermansky-Pudlak Syndrome 7 35
1788 IMM131 Immunodeficiency with Hyper-Igm, Type 4 35
1789 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1790 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1791 ACT114 Acute Myeloblastic Leukemia Without Maturation 34
1792 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 34
1793 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 33
1794 c CLR077 Colorectal Cancer 10 33
1795 LYM014 Lymphangitis 32
1796 IMM178 Immunodeficiency 31b 32
1797 IMM100 Immunoglobulin Kappa Light Chain Deficiency 32
1798 CMB011 Combined Malonic and Methylmalonic Aciduria 32
1799 c CLR075 Colorectal Cancer 3 32
1800 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 32
1801 GRY001 Gray Zone Lymphoma 31
1802 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1803 IMM062 Immunodeficiency 11 31
1804 IMM096 Immunodeficiency 30 31
1805 c CLR080 Colorectal Cancer 5 31
1806 c EXD004 Exudative Vitreoretinopathy 4 31
1807 c SNG011 Singleton-Merten Syndrome 1 31
1808 PHS014 Phosphoglycerate Kinase 1 Deficiency 31
1809 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 31
1810 c GLY043 Glycogen Storage Disease Xii 30
1811 P SNG014 Singleton-Merten Syndrome 30
1812 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 30
1813 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 29
1814 NLL001 Null-Cell Leukemia 29
1815 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 29
1816 c CLR079 Colorectal Cancer 2 29
1817 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 28
1818 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 28
1819 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
1820 GRW003 Growth Hormone Insensitivity with Immunodeficiency 28
1821 SPN125 Spondyloenchondrodysplasia 28
1822 c ALP087 Alpha-Heavy Chain Disease 27
1823 c WLM005 Wilms Tumor 2 27
1824 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 27
1825 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 27
1826 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
1827 CTN027 Cutaneous Mastocytoma 27
1828 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 27
1829 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
1830 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
1831 P HRD009 Hereditary Wilms' Tumor 26
1832 CNT010 Central Nervous System Hematologic Cancer 26
1833 c ACQ027 Acquired Cutis Laxa 26
1834 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 25
1835 IMM074 Immunodeficiency 16 25
1836 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 25
1837 THR101 Thrombocytopenia, Paris-Trousseau Type 25
1838 SYS059 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 25
1839 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 25
1840 SPN026 Spinal Cord Lymphoma 25
1841 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 24
1842 c FML344 Familial Mediterranean Fever, Autosomal Dominant 24
1843 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 24
1844 IMM182 Immunodeficiency 31a 24
1845 c WSK002 Wiskott-Aldrich Syndrome 2 23
1846 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 23
1847 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 23
1848 c EXD006 Exudative Vitreoretinopathy 5 23
1849 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 23
1850 c BLD126 Bleeding Disorder, Platelet-Type, 18 22
1851 c CLR082 Colorectal Cancer 7 22
1852 CMB047 Combined Oxidative Phosphorylation Deficiency 18 22
1853 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 22
1854 c CLR081 Colorectal Cancer 6 22
1855 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
1856 c MYS019 Miyoshi Muscular Dystrophy 2 21
1857 IND009 Indeterminate Cell Histiocytosis 21
1858 c EXD010 Exudative Vitreoretinopathy 6 21
1859 c EXD007 Exudative Vitreoretinopathy 3 21
1860 c CLR083 Colorectal Cancer 8 20
1861 c SNG012 Singleton-Merten Syndrome 2 20
1862 c EXD012 Exudative Vitreoretinopathy 7 20
1863 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1864 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 19
1865 IMM172 Immunodeficiency 34 19
1866 PRM133 Primary Pulmonary Lymphoma 18
1867 c WLM015 Wilms Tumor 3 18
1868 c WLM017 Wilms Tumor 4 18
1869 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 17
1870 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 17
1871 SCK020 Sickle Cell - Hemoglobin D Disease 16
1872 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1873 c CLR084 Colorectal Cancer 9 16
1874 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
1875 c CLR078 Colorectal Cancer 11 15
1876 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 15
1877 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
1878 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 15
1879 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1880 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 13
1881 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 12
1882 c MYL070 Myeloproliferative Disease, Autosomal Recessive 10
1883 ATY044 Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly 10
1884 c FML094 Familial Wilms Tumor 2 9
1885 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 8
1886 SMP006 Simple Cryoglobulinemia 8
1887 c KRN003 Kernicterus Due to Isoimmunization 8
1888 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 8
1889 21Q001 21q22.11q22.12 Microdeletion Syndrome 7
1890 THR043 Thrombomodulin Anomalies, Familial 6
1891 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
1892 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
1893 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
1894 CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 5
1895 PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5
1896 c RRT005 Rare Thrombotic Disorder Due to an Acquired Platelet Anomaly 3
1897 c RRT006 Rare Thrombotic Disorder Due to a Constitutional Platelet Anomaly 3
1898 c RRT007 Rare Thrombotic Disorder Due to a Platelet Anomaly 3
1899 c RRT009 Rare Thrombotic Disorder Due to a Constitutional Coagulation Factors Defect 3
1900 c RRT010 Rare Thrombotic Disorder Due to a Coagulation Factors Defect 3
1901 c LKM071 Leukemia, Chronic Lymphocytic 81
1902 LYM143 Lymphoma, Non-Hodgkin, Familial 74
1903 P AMY004 Amyloidosis 71
1904 LYM133 Lymphoma, Hodgkin, Classic 70
1905 c JVN004 Juvenile Myelomonocytic Leukemia 68
1906 CHD001 Chediak-Higashi Syndrome 68
1907 c MCL062 Mucolipidosis Ii Alpha/beta 67
1908 c PRD013 Periodic Fever, Familial, Autosomal Dominant 67
1909 c CNG411 Congenital Disorder of Glycosylation, Type in 66
1910 GLN010 Glanzmann Thrombasthenia 66
1911 MYL031 Myeloproliferative Neoplasm 66
1912 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65
1913 MGK001 Megakaryocytic Leukemia 65
1914 LKC009 Leukocyte Adhesion Deficiency, Type I 64
1915 P ANP001 Anaplastic Large Cell Lymphoma 62
1916 P CND004 Candidiasis 61
1917 c MCL013 Mucolipidosis Iv 60
1918 P EPD083 Epidermodysplasia Verruciformis 1 59
1919 NTH001 Netherton Syndrome 59
1920 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 58
1921 c MCL046 Mucolipidosis Iii Alpha/beta 58
1922 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 57
1923 DFF005 Diffuse Large B-Cell Lymphoma 56
1924 CRN295 Carnitine Palmitoyltransferase I Deficiency 55
1925 HYD038 Hydrops Fetalis, Nonimmune 55
1926 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
1927 SPT004 Septic Arthritis 55
1928 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1929 LYM040 Lymphoblastic Lymphoma 54
1930 IMM102 Immunodeficiency 14 54
1931 PLM017 Pulmonary Alveolar Microlithiasis 54
1932 P PRS049 Persistent Mullerian Duct Syndrome 53
1933 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1934 RTC002 Reticular Dysgenesis 52
1935 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 51
1936 c NNS007 Nonsyndromic Deafness 51
1937 c ALM001 Al Amyloidosis 50
1938 MNC006 Monoclonal Gammopathy of Uncertain Significance 50
1939 c AMY009 Amyloidosis Aa 50
1940 MYL075 Myelodysplastic/myeloproliferative Neoplasm 50
1941 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 50
1942 P MTH008 Methylmalonic Acidemia 50
1943 c PSR021 Psoriasis 14, Pustular 50
1944 HYD012 Hydrops Fetalis 49
1945 DPM001 Dopamine Beta-Hydroxylase Deficiency 49
1946 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
1947 IMM184 Immunodeficiency 17 48
1948 SCT005 Scott Syndrome 48
1949 HYR002 Hoyeraal Hreidarsson Syndrome 48
1950 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
1951 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1952 GLY014 Glycerol Kinase Deficiency 47
1953 MCL009 Mcleod Syndrome 47
1954 P MCL001 Mucolipidosis 46
1955 TCL002 T-Cell Large Granular Lymphocyte Leukemia 46
1956 c HRD039 Hereditary Amyloidosis 46
1957 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 46
1958 P PRN026 Porencephaly 46
1959 HYP236 Hyperbilirubinemia, Rotor Type 46
1960 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 45
1961 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
1962 c PSD092 Pseudohypoaldosteronism, Type Iie 45
1963 c DFN097 Deafness, Autosomal Recessive 1a 45
1964 LRG008 Large Granular Lymphocyte Leukemia 45
1965 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 45
1966 c TYR013 Tyrosinemia, Type Ii 45
1967 c DFN250 Deafness, Autosomal Recessive 2 45
1968 THR009 Thrombocytopenia-Absent Radius Syndrome 44
1969 FML075 Familial Isolated Hyperparathyroidism 44
1970 P ERY008 Erythromelalgia 44
1971 c MCL016 Mucolipidosis Iii Gamma 44
1972 P PLM085 Pulmonary Hemosiderosis 43
1973 c DFN354 Deafness, Autosomal Dominant 20 42
1974 c DFN196 Deafness, Autosomal Dominant 22 42
1975 c DFN351 Deafness, Autosomal Dominant 6 42
1976 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
1977 P PLM025 Pulmonary Venoocclusive Disease 42
1978 c DFN107 Deafness, Autosomal Dominant 10 42
1979 c DFN131 Deafness, Autosomal Dominant 1 41
1980 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 41
1981 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
1982 IMM078 Immunodeficiency 21 41
1983 c DFN251 Deafness, Autosomal Dominant 11 41
1984 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
1985 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
1986 c DFN141 Deafness, Autosomal Recessive 12 40
1987 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1988 c DFN203 Deafness, Autosomal Recessive 30 40
1989 c DFN197 Deafness, Autosomal Recessive 37 40
1990 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
1991 OVR093 Overhydrated Hereditary Stomatocytosis 40
1992 c DFN200 Deafness, Autosomal Dominant 17 40
1993 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
1994 P PST059 Pustular Psoriasis 39
1995 c DFN117 Deafness, Autosomal Dominant 15 39
1996 c HRM012 Hermansky-Pudlak Syndrome 9 39
1997 HPT070 Hepatosplenic T-Cell Lymphoma 39
1998 LYM042 Lymphocytic Colitis 39
1999 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
2000 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 38
2001 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
2002 c DFN133 Deafness, Autosomal Recessive 9 38
2003 c DFN202 Deafness, Autosomal Dominant 48 38
2004 c DFN190 Deafness, Autosomal Dominant 2a 38
2005 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
2006 FLT009 Folate Malabsorption, Hereditary 38
2007 c DFN136 Deafness, Autosomal Dominant 9 38
2008 c DFN093 Deafness, Autosomal Recessive 23 37
2009 c DFN124 Deafness, Autosomal Recessive 6 37
2010 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
2011 c DFN360 Deafness, Autosomal Dominant 69 37
2012 MLN011 Malonyl-Coa Decarboxylase Deficiency 37
2013 c DFN137 Deafness, Autosomal Dominant 13 37
2014 c DFN168 Deafness, Autosomal Recessive 26 37
2015 c DFN201 Deafness, Autosomal Recessive 3 36
2016 c DFN092 Deafness, Autosomal Recessive 49 36
2017 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
2018 c DFN252 Deafness, Autosomal Recessive 24 36
2019 LYM094 Lymphedema, Primary, with Myelodysplasia 36
2020 c DFN128 Deafness, Autosomal Dominant 36 36
2021 c CNG379 Congenital Disorder of Glycosylation, Type It 36
2022 c DFN353 Deafness, Autosomal Dominant 12 36
2023 c DFN143 Deafness, Autosomal Recessive 16 36
2024 CRD017 Cardiac Valvular Dysplasia, X-Linked 36
2025 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
2026 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 35
2027 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
2028 c DFN114 Deafness, Autosomal Recessive 67 35
2029 DLF001 Dieulafoy Lesion 35
2030 c DFN121 Deafness, Autosomal Recessive 28 34
2031 c DFN330 Deafness, Autosomal Recessive 97 34
2032 P INH011 Inherited Bone Marrow Failure Syndromes 34
2033 c DFN189 Deafness, Autosomal Dominant 25 34
2034 c HYP716 Hypermanganesemia with Dystonia 1 34
2035 P HRD214 Hereditary Periodic Fever Syndrome 34
2036 c CND034 Candidiasis, Familial, 2 34
2037 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
2038 c DFN095 Deafness, Autosomal Recessive 25 34
2039 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
2040 c DFN120 Deafness, Autosomal Recessive 39 34
2041 c DFN352 Deafness, Autosomal Recessive 8 34
2042 c DFN130 Deafness, Autosomal Recessive 21 33
2043 LNG004 Langerhans Cell Sarcoma 33
2044 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
2045 c DFN098 Deafness, Autosomal Dominant 3a 33
2046 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
2047 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
2048 c FML084 Familial Porencephaly 33
2049 c DFN094 Deafness, Autosomal Dominant 28 33
2050 c DFN127 Deafness, Autosomal Recessive 7 32
2051 c NPH072 Nephrotic Syndrome, Type 7 32
2052 c DFN139 Deafness, Autosomal Recessive 29 32
2053 c DFN192 Deafness, Autosomal Dominant 23 32
2054 c PLM167 Pulmonary Ven