Blood Diseases Category (1998 diseases)


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

# Family MCID Name MIFTS
1 GLN010 Glanzmann Thrombasthenia 68
2 c BTT014 Beta-Thalassemia 71
3 P BRN019 Bernard-Soulier Syndrome 61
4 GRY002 Gray Platelet Syndrome 58
5 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34
6 P ESS003 Essential Thrombocythemia 71
7 THR100 Thrombocytopenic Purpura, Autoimmune 65
8 PRT012 Prothrombin Deficiency 39
9 c PRT045 Prothrombin-Related Thrombophilia 21
10 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
11 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 59
12 HRD083 Hereditary Antithrombin Deficiency 28
13 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 33
14 P THR005 Thrombotic Thrombocytopenic Purpura 64
15 c ALP101 Alpha-Thalassemia 60
16 P SCK034 Sickle Beta Thalassemia 31
17 P HMG032 Hemoglobin H Disease 51
18 SCT005 Scott Syndrome 47
19 GHS005 Ghosal Hematodiaphyseal Dysplasia 29
20 THR009 Thrombocytopenia-Absent Radius Syndrome 59
21 BLD053 Blood Platelet Disease 53
22 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
23 HMT002 Hematologic Cancer 62
24 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 50
25 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65
26 SCK003 Sickle Cell Anemia 72
27 STR081 Stormorken Syndrome 52
28 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 50
29 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 20
30 QBC001 Quebec Platelet Disorder 41
31 ANT009 Antithrombin Iii Deficiency 58
32 FCT013 Factor V Leiden Thrombophilia 17
33 c THR092 Thrombophilia Due to Thrombin Defect 69
34 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 41
35 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 31
36 PRT129 Prothrombin Deficiency, Congenital 52
37 HMN035 Hemangioma-Thrombocytopenia Syndrome 41
38 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 26
39 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 23
40 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 22
41 PRT011 Protein C Deficiency 54
42 ALP013 Alpha-Thalassemia Myelodysplasia Syndrome 29
43 STR089 Storage Pool Platelet Disease 48
44 HRD164 Hereditary Antithrombin Deficiency Type I 6
45 HRD163 Hereditary Antithrombin Deficiency Type 2 5
46 HPR003 Heparin-Induced Thrombocytopenia 49
47 PLT004 Platelet Glycoprotein Iv Deficiency 44
48 THR101 Thrombocytopenia, Paris-Trousseau Type 24
49 P WSK001 Wiskott-Aldrich Syndrome 76
50 c THR090 Thrombocythemia 1 40
51 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 35
52 PRX008 Paroxysmal Cold Hemoglobinuria 31
53 c WSK002 Wiskott-Aldrich Syndrome 2 18
54 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 17
55 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 24
56 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 22
57 SCK020 Sickle Cell - Hemoglobin D Disease 14
58 THR016 Thrombophlebitis 52
59 P HML033 Hemolytic Uremic Syndrome, Atypical 1 66
60 c THR082 Thrombophilia Due to Activated Protein C Resistance 60
61 INT078 Intracranial Thrombosis 46
62 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
63 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
64 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
65 c HML036 Hemolytic Uremic Syndrome, Atypical 6 22
66 c HML035 Hemolytic Uremic Syndrome, Atypical 2 21
67 BLD141 Blood Group--Kell System 16
68 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 18
69 THR039 Thrombocytopenia Robin Sequence 12
70 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 5
71 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 39
72 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 26
73 c THR110 Thrombocytopenia 6 24
74 HMG005 Hemoglobinopathy 52
75 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 22
76 WTL002 Wt Limb-Blood Syndrome 20
77 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 16
78 BLD160 Blood Group, John Milton Hagen System 10
79 THR024 Thrombosis 63
80 THR116 Thrombocytopenia, Cyclic 24
81 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 18
82 BLD146 Blood Group, P1pk System 16
83 THR004 Thrombocytosis 53
84 c THR086 Thrombocythemia 3 21
85 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 21
86 CNT010 Central Nervous System Hematologic Cancer 33
87 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 21
88 BLD167 Blood Group, Kidd System 16
89 PLM033 Pulmonary Embolism 63
90 CYC010 Cyclic Neutropenia 60
91 SCK005 Sickle Cell Disease 57
92 P BLD051 Blood Coagulation Disease 47
93 CHR466 Chronic Thromboembolic Pulmonary Hypertension 43
94 c HMG003 Hemoglobin E Disease 42
95 c HMG001 Hemoglobin C Disease 42
96 HPR006 Heparin Cofactor Ii Deficiency 35
97 SGT001 Sagittal Sinus Thrombosis 34
98 CVR002 Cavernous Sinus Thrombosis 28
99 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 23
100 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 23
101 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 22
102 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 17
103 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 13
104 PRM053 Primary Release Disorder of Platelets 11
105 FMR001 Femoral Vein Thrombophlebitis 10
106 WHT007 White Platelet Syndrome 10
107 RPH001 Raph Blood Group System 9
108 P HMT005 Hematocrit/hemoglobin Quantitative Trait Locus 1 6
109 c HMT006 Hematocrit/hemoglobin Quantitative Trait Locus 2 6
110 c HMT007 Hematocrit/hemoglobin Quantitative Trait Locus 3 6
111 MCR041 Macrothrombocytopenia Progressive Deafness 5
112 c SCP001 Sc Phocomelia Syndrome 40
113 BLD054 Blood Protein Disease 37
114 c DKP001 Dk Phocomelia Syndrome 24
115 P PHC014 Phocomelia 22
116 c THR087 Thrombocythemia 2 17
117 c THR023 Thrombophilia Due to Thrombomodulin Defect 17
118 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 16
119 c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 15
120 PRT018 Portal Vein Thrombosis 50
121 BLC004 Blackwater Fever 34
122 c BLD140 Blood Group, I System 30
123 BLD165 Blood Group, Colton System 27
124 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
125 BLD155 Blood Group, Cromer System 19
126 BLD159 Blood Group, Junior System 19
127 PRN017 Perianal Hematoma 16
128 BLD162 Blood Group, Vel System 14
129 BLD166 Blood Group, Diego System 12
130 BLD158 Blood Group, Chido/rodgers System 8
131 DFC004 Deficiency Anemia 66
132 P HML001 Hemolytic-Uremic Syndrome 53
133 HMG002 Hemoglobinuria 51
134 CRN017 Coronary Thrombosis 48
135 PRT014 Protein S Deficiency 47
136 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 35
137 HMG010 Hemoglobinemia 29
138 QLT001 Qualitative Platelet Defect 28
139 LTR002 Lateral Sinus Thrombosis 28
140 HMT001 Hematocele of Tunica Vaginalis Testis 26
141 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 25
142 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 22
143 SYS059 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 20
144 THR121 Thrombocythemia with Distal Limb Defects 7
145 THR043 Thrombomodulin Anomalies, Familial 7
146 P MNP015 Mean Platelet Volume Quantitative Trait Locus 2 6
147 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
148 HMT018 Hematopoietic Stem Cell Transplantation 58
149 PST095 Post-Thrombotic Syndrome 51
150 ASP030 Aspirin Resistance 47
151 RFR004 Refractory Hematologic Cancer 29
152 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 24
153 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
154 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 20
155 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 14
156 HMG031 Hemoglobin, High Altitude Adaptation 11
157 c HYP595 Hypertension, Essential 78
158 c AFB002 Afibrinogenemia, Congenital 59
159 FCT006 Factor V Deficiency 55
160 c MLG069 Malignant Hypertension 50
161 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 46
162 P FML187 Familial Hypertension 42
163 c MLG039 Malignant Essential Hypertension 30
164 STC016 Sticky Platelet Syndrome 30
165 BLD161 Blood Group, Globoside System 30
166 c MLG080 Malignant Secondary Hypertension 26
167 c BNG021 Benign Essential Hypertension 26
168 BLD163 Blood Group, Dombrock System 26
169 BLD164 Blood Group, Gerbich System 22
170 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 22
171 RDN004 Radin Blood Group Antigen 19
172 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 18
173 BLD151 Blood Group--Wright Antigen 15
174 THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 15
175 BLD148 Blood Group, Langereis System 13
176 c HYP452 Hypertension, Essential 6 11
177 c HYP450 Hypertension, Essential 4 11
178 c HYP449 Hypertension, Essential 3 11
179 BLD144 Blood Group System, Landsteiner-Wiener 11
180 c HYP451 Hypertension, Essential 5 10
181 c HYP453 Hypertension, Essential 7 10
182 c HYP448 Hypertension, Essential 2 10
183 c HYP454 Hypertension, Essential 8 10
184 c HYP447 Hypertension, Essential 1 10
185 c BNG034 Benign Secondary Hypertension 6
186 DSS009 Disseminated Intravascular Coagulation 56
187 P THR015 Thrombophilia 55
188 THR035 Thrombasthenia 46
189 P SDR003 Sideroblastic Anemia 44
190 PLT015 Platelet Aggregation, Spontaneous 42
191 TNP004 Tn Polyagglutination Syndrome 38
192 c INH004 Inherited Blood Coagulation Disease 36
193 HMM001 Hemometra 31
194 c HMG004 Hemoglobin D Disease 25
195 c ANM034 Anemia, Sideroblastic, 4 20
196 INT076 Intracranial Sinus Thrombosis 20
197 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 17
198 MND006 Mondor Disease 16
199 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
200 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
201 ACQ051 Acquired Prothrombin Deficiency 13
202 PRM285 Primitive Portal Vein Thrombosis 13
203 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
204 THR098 Thrombocythemia, X-Linked 11
205 FCT024 Factor V Excess with Spontaneous Thrombosis 10
206 ILC001 Iliac Vein Thrombophlebitis 9
207 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 6
208 MDC003 Medich Giant Platelet Syndrome 6
209 CYT021 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 6
210 c MNP014 Mean Platelet Volume Quantitative Trait Locus 1 6
211 c MNP016 Mean Platelet Volume Quantitative Trait Locus 3 6
212 c MNP019 Mean Platelet Volume Quantitative Trait Locus 4 6
213 c MNP021 Mean Platelet Volume Quantitative Trait Locus 6 6
214 c MNP020 Mean Platelet Volume Quantitative Trait Locus 5 6
215 c SCK008 Sickle Delta Beta Thalassemia 6
216 HMG024 Hemoglobinopathy Toms River 6
217 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 6
218 BLD143 Blood Group--Lke 5
219 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
220 THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2
221 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
222 P HYP014 Hyperuricemia 56
223 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
224 c HRD048 Hereditary Hyperuricemia 15
225 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 15
226 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 15
227 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 14
228 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 14
229 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 12
230 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
231 RHN014 Rh-Null, Amorph Type 11
232 MLR004 Malaria 85
233 P MYC007 Myocardial Infarction 77
234 c ACT075 Acute Myocardial Infarction 56
235 IRN001 Iron Deficiency Anemia 55
236 P HMC002 Homocystinuria 52
237 PNC001 Pancytopenia 51
238 P HRD012 Hereditary Elliptocytosis 43
239 MRN001 Marantic Endocarditis 42
240 ATM012 Autoimmune Disease of Blood 29
241 c PST001 Posterior Myocardial Infarction 28
242 c MYC058 Myocardial Infarction 2 26
243 BLD153 Blood Group--Swann System 25
244 c ELL005 Elliptocytosis 2 21
245 c ELL006 Elliptocytosis 3 19
246 THR007 Thrombophlebitis Migrans 17
247 ACH007 Achenbach Syndrome 9
248 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
249 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
250 P CRN018 Coronary Artery Anomaly 75
251 P DBT009 Diabetes Mellitus 67
252 ISC004 Ischemia 66
253 P HML002 Hemolytic Anemia 63
254 HYP056 Hypoglycemia 63
255 P SHW006 Shwachman-Diamond Syndrome 1 62
256 GST033 Gestational Diabetes 62
257 P END033 Endocarditis 60
258 c PRC016 Pre-Eclampsia 60
259 P PLY018 Polycythemia 60
260 P ECL001 Eclampsia 57
261 CRT016 Carotid Artery Disease 57
262 c SVR005 Severe Pre-Eclampsia 56
263 HMC014 Homocysteinemia 54
264 c PRM012 Primary Polycythemia 52
265 RYN005 Raynaud Phenomenon 51
266 CRY004 Cryoglobulinemia 50
267 c DMN023 Diamond-Blackfan Anemia 1 50
268 ISC015 Ischemic Colitis 48
269 P PRP034 Purpura Fulminans 45
270 c ACQ010 Acquired Polycythemia 43
271 HYP003 Hypermethioninemia 39
272 CRT004 Carotid Artery Thrombosis 38
273 c SBC003 Subacute Bacterial Endocarditis 35
274 CRB132 Cerebral Sinovenous Thrombosis 35
275 PLT031 Platelet Membrane Fluidity 34
276 OVL001 Ovalocytosis, Southeast Asian 33
277 c ACQ047 Acquired Methemoglobinemia 31
278 c TYP035 Type 1 Diabetes Mellitus 11 29
279 c TYP037 Type 1 Diabetes Mellitus 13 29
280 SMH001 Sm-Ahnmd 29
281 c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 28
282 c TYP032 Type 1 Diabetes Mellitus 6 28
283 P ATS208 Autosomal Dominant Macrothrombocytopenia 28
284 PRK005 Prekallikrein Deficiency 27
285 c TYP033 Type 1 Diabetes Mellitus 7 27
286 c CNG223 Congenital Methemoglobinemia 27
287 BLD052 Blood Group Incompatibility 27
288 c TYP028 Type 1 Diabetes Mellitus 2 26
289 c TYP036 Type 1 Diabetes Mellitus 12 25
290 c TYP031 Type 1 Diabetes Mellitus 5 25
291 BLD137 Blood Group--Ahonen 24
292 c TYP027 Type 1 Diabetes Mellitus 10 24
293 c TYP038 Type 1 Diabetes Mellitus 15 24
294 MYH015 Myh-9 Related Disease 23
295 c TYP039 Type 1 Diabetes Mellitus 17 21
296 c SHW007 Shwachman-Diamond Syndrome 2 21
297 c ATS209 Autosomal Dominant Secondary Polycythemia 20
298 TFR002 Tafro Syndrome 20
299 c TYP040 Type 1 Diabetes Mellitus 18 20
300 c TYP034 Type 1 Diabetes Mellitus 8 20
301 FRS010 Forsythe-Wakeling Syndrome 19
302 c TYP030 Type 1 Diabetes Mellitus 4 19
303 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
304 c CRN304 Coronary Artery Disease, Autosomal Dominant 2 19
305 DHY015 Dehydrated Hereditary Stomatocytosis 2 19
306 P BLD150 Blood Group--Ul System 19
307 VNS012 Venous Thoracic Outlet Syndrome 18
308 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 18
309 PLS032 Plasmodium Falciparum Blood Infection Level 17
310 c TYP029 Type 1 Diabetes Mellitus 3 17
311 PLT016 Platelet Adenylate Cyclase Activity 16
312 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
313 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13
314 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
315 PLT028 Platelet Factor 3 Deficiency 12
316 THR115 Thrombocyte B 11
317 c ACQ039 Acquired Purpura Fulminans 11
318 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 11
319 c MTH084 Methemoglobinemia, Alpha Type 10
320 P PLT029 Platelet Groups--Ko System 10
321 PLT034 Platelet Prostacyclin Receptor Defect 9
322 PLT027 Platelet Disorder, Undefined 9
323 PLS033 Plasma Clot Retraction Factor, Deficiency of 9
324 c MTH083 Methemoglobinemia, Beta Type 9
325 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
326 PLT033 Platelet Signal Processing Defect 9
327 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 9
328 BLD145 Blood Group--Newfoundland 9
329 ATH014 Athrombia, Essential 8
330 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
331 WHT020 White Blood Cell Count Quantitative Trait Locus 1 8
332 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
333 HMG030 Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain 7
334 YTB001 Yt Blood Group Antigen 7
335 TRN013 Transient Neonatal Thrombocytopenia 7
336 THL019 Thalassemia, Beta+, Silent Allele 7
337 UNS001 Unstable Hemoglobin Disease 6
338 c PLY005 Polycythemia Due to Hypoxia 6
339 BLD147 Blood Group--Private Systems 4
340 HMT020 Hematopoietic Stem Cell Kinetics, Control of 4
341 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4
342 BLD136 Blood Group--Abh Antigen, Type 2 3
343 BLD139 Blood Group--En 3
344 c PLT030 Platelet Groups--Pl System 3
345 BLD135 Blood Group--Abo Suppressor 3
346 SCK036 Sickle Cell Disease Associated with an Other Hemoglobin Anomaly 3
347 MYL069 Myeloma, Multiple 85
348 P ATX030 Ataxia-Telangiectasia 84
349 c LKM061 Leukemia, Acute Myeloid 83
350 P FNC027 Fanconi Anemia, Complementation Group a 82
351 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 77
352 PLY001 Polycythemia Vera 76
353 KPS004 Kaposi Sarcoma 76
354 APL001 Aplastic Anemia 74
355 c LKM063 Leukemia, Chronic Myeloid 74
356 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
357 P DMN001 Diamond-Blackfan Anemia 71
358 P AGM001 Agammaglobulinemia 71
359 ART016 Aortic Aneurysm 70
360 MYL009 Myelodysplastic Syndrome 70
361 MYL005 Myelofibrosis 69
362 P HMP002 Hemophagocytic Lymphohistiocytosis 69
363 P AMY004 Amyloidosis 68
364 CNG034 Congestive Heart Failure 68
365 P DYS007 Dyskeratosis Congenita 68
366 P LKM062 Leukemia, Acute Lymphoblastic 68
367 BRK010 Burkitt Lymphoma 68
368 P WLD002 Waldenstrom Macroglobulinemia 68
369 CRB039 Cerebrovascular Disease 67
370 P PRD008 Periodontitis 66
371 ATH013 Atherosclerosis Susceptibility 66
372 c GLY008 Glycogen Storage Disease Ii 66
373 DNG002 Dengue Hemorrhagic Fever 65
374 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65
375 P THL005 Thalassemia 65
376 HYP066 Hyperglycemia 64
377 P GCH001 Gaucher's Disease 64
378 c ADL017 Adult T-Cell Leukemia 63
379 c ACT074 Acute Lymphocytic Leukemia 63
380 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 62
381 LSC001 Lesch-Nyhan Syndrome 62
382 P HST010 Histiocytosis 61
383 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
384 PRP030 Purpura 61
385 c GCH015 Gaucher Disease, Type I 61
386 GT001 Gout 60
387 P GLY013 Glycogen Storage Disease 60
388 P HMN010 Hemangioma 60
389 P NTR004 Neutropenia 60
390 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
391 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 60
392 NTH001 Netherton Syndrome 59
393 c PRD040 Periodontitis, Chronic 59
394 ANG020 Angiosarcoma 58
395 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 58
396 FCT003 Factor X Deficiency 57
397 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 57
398 HYP810 Hypereosinophilic Syndrome, Idiopathic 57
399 P ACT105 Acute Mountain Sickness 56
400 P ERY058 Erythrocytosis, Familial, 1 56
401 c ANM036 Anemia, Sideroblastic, 1 56
402 P HMR003 Hemorrhagic Disease 56
403 c OST163 Osteopetrosis, Autosomal Recessive 3 55
404 FCT001 Factor Viii Deficiency 55
405 HYP005 Hypokalemia 55
406 P HYP050 Hyperinsulinemic Hypoglycemia 55
407 c GCH016 Gaucher Disease, Type Ii 54
408 P VNS003 Venous Insufficiency 54
409 HRT012 Heart Valve Disease 54
410 P GRS003 Griscelli Syndrome 53
411 TRS021 Triosephosphate Isomerase Deficiency 52
412 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 52
413 RTN003 Retinal Ischemia 52
414 c FNC042 Fanconi Anemia, Complementation Group D2 52
415 PRP082 Porphyria, Congenital Erythropoietic 52
416 HLL004 Hellp Syndrome 51
417 BRT005 Barth Syndrome 51
418 FLT011 Felty Syndrome 51
419 HNN001 Hennekam Syndrome 51
420 GLC009 Glucosephosphate Dehydrogenase Deficiency 51
421 ORT008 Orotic Aciduria 50
422 HYP006 Hypertensive Heart Disease 50
423 c GCH017 Gaucher Disease, Type Iii 49
424 RVS001 Revesz Syndrome 49
425 PLY112 Polyarteritis Nodosa, Childhood-Onset 49
426 c GRS014 Griscelli Syndrome, Type 2 49
427 EXT010 Extramedullary Plasmacytoma 49
428 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
429 c VNW008 Von Willebrand Disease, Type 3 49
430 P FNC044 Fanconi Anemia, Complementation Group C 49
431 P ANL018 Analbuminemia 48
432 c CHR431 Chronic Venous Insufficiency 48
433 PRD004 Prediabetes Syndrome 48
434 VTM002 Vitamin B12 Deficiency 48
435 TRN022 Transcobalamin Ii Deficiency 48
436 ESN002 Eosinophilia-Myalgia Syndrome 48
437 P RTN014 Retinal Artery Occlusion 48
438 P MTH007 Methemoglobinemia 48
439 P ART018 Aortic Valve Insufficiency 47
440 LPP002 Lipoprotein Glomerulopathy 47
441 c CHR546 Chronic Mountain Sickness 47
442 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
443 VTM001 Vitamin K Deficiency Hemorrhagic Disease 46
444 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 46
445 c SPH013 Spherocytosis, Type 1 46
446 c GLY023 Glycogen Storage Disease Type 0 45
447 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
448 PLM035 Pulmonary Eosinophilia 45
449 c FNC047 Fanconi Anemia, Complementation Group Q 44
450 RFR010 Refractory Anemia 44
451 PKL001 Poikiloderma with Neutropenia 44
452 PRS127 Pearson Marrow-Pancreas Syndrome 44
453 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
454 c ACR116 Aicardi-Goutieres Syndrome 1 44
455 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 44
456 c FNC058 Fanconi Anemia, Complementation Group R 44
457 HMP001 Hemopericardium 43
458 NTR018 Neutrophilia, Hereditary 43
459 LKS001 Leukostasis 43
460 ANM001 Anemia of Prematurity 43
461 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 43
462 MCR018 Microcytic Anemia 43
463 TRC021 Tricuspid Valve Stenosis 43
464 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 42
465 ESN017 Eosinophilic Granuloma 42
466 c FNC056 Fanconi Anemia, Complementation Group V 42
467 IND002 Indolent Systemic Mastocytosis 42
468 c FNC052 Fanconi Anemia, Complementation Group T 42
469 MCR017 Macrocytic Anemia 42
470 c GLY098 Glycogen Storage Disease, Type Ixd 42
471 c FNC025 Fanconi Anemia, Complementation Group J 41
472 c FNC045 Fanconi Anemia, Complementation Group F 41
473 c FNC029 Fanconi Anemia, Complementation Group I 41
474 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
475 SPT002 Septicemic Plague 41
476 c FNC057 Fanconi Anemia, Complementation Group U 41
477 P CNG003 Congenital Dyserythropoietic Anemia 41
478 c CNT028 Central Retinal Artery Occlusion 41
479 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
480 c FNC032 Fanconi Anemia, Complementation Group B 40
481 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
482 c TRN009 Transient Hypogammaglobulinemia of Infancy 40
483 NNK001 Nonaka Myopathy 40
484 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
485 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
486 OVR093 Overhydrated Hereditary Stomatocytosis 39
487 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
488 P TRN016 Transient Hypogammaglobulinemia 39
489 c MNS014 Monosomy 22 38
490 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
491 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
492 c FNC023 Fanconi Anemia, Complementation Group N 38
493 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
494 c OST126 Osteopetrosis, Autosomal Recessive 1 38
495 c PSD106 Pseudo-Torch Syndrome 1 38
496 c FNC028 Fanconi Anemia, Complementation Group L 37
497 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
498 GLY032 Glycosylphosphatidylinositol Deficiency 37
499 c INF086 Inflammatory Bowel Disease 3 37
500 LTT002 Letterer-Siwe Disease 37
501 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
502 FNC030 Fanconi Anemia, Complementation Group G 37
503 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
504 c SPH016 Spherocytosis, Type 4 37
505 c CNG188 Congenital Disorder of Glycosylation, Type if 36
506 c INF087 Inflammatory Bowel Disease 4 36
507 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
508 FLT009 Folate Malabsorption, Hereditary 36
509 BLT003 Blue Toe Syndrome 35
510 MYL002 Myelophthisic Anemia 35
511 c PRM149 Primary Hypereosinophilic Syndrome 35
512 LCH001 Leech Infestation 35
513 c CNG379 Congenital Disorder of Glycosylation, Type It 35
514 ACQ031 Acquired Idiopathic Sideroblastic Anemia 35
515 c SPH014 Spherocytosis, Type 2 35
516 c SPH015 Spherocytosis, Type 3 35
517 HYP001 Hypochromic Microcytic Anemia 35
518 P HVY001 Heavy Chain Disease 35
519 c FNC048 Fanconi Anemia, Complementation Group O 35
520 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 34
521 PRC051 Paracetamol Poisoning 34
522 GNT005 Giant Hemangioma 34
523 c PRC031 Preeclampsia/eclampsia 1 34
524 PLT001 Plethora of Newborn 34
525 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
526 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
527 KLL014 Kelley-Seegmiller Syndrome 33
528 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
529 NNT011 Neonatal Anemia 33
530 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
531 CHL070 Cholesterol Embolism 33
532 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 33
533 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
534 c INF092 Inflammatory Bowel Disease 9 32
535 CMP040 Complement Component 4, Partial Deficiency of 32
536 LCN001 Lice Infestation 32
537 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 32
538 FLL042 Folliculotropic Mycosis Fungoides 32
539 c DMN021 Diamond-Blackfan Anemia 6 32
540 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
541 c CNG020 Congenital Hypogammaglobulinemia 32
542 NNS003 Non-Secretory Myeloma 32
543 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
544 FSR001 Fusariosis 31
545 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
546 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
547 SML011 Smoldering Myeloma 31
548 FLC001 Folic Acid Deficiency Anemia 31
549 CRY019 Cryohydrocytosis 31
550 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
551 TKN001 Takenouchi-Kosaki Syndrome 31
552 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
553 RHS001 Rh Isoimmunization 30
554 c GLY057 Glycogen Storage Disease X 30
555 GLT005 Glutamate Formiminotransferase Deficiency 30
556 PLM007 Pulmonary Aspergilloma 30
557 c ACR081 Aicardi-Goutieres Syndrome 6 30
558 CNG017 Congenital Nonspherocytic Hemolytic Anemia 29
559 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 29
560 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 29
561 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
562 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
563 c GLY017 Glycogen Storage Disease Ic 29
564 c NPH102 Nephrotic Syndrome, Type 14 29
565 c MLG144 Malignant Hemangioma 29
566 BMB001 Bombay Phenotype 29
567 c GCH013 Gaucher Disease, Type Iiic 28
568 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
569 CRT005 Cortical Thymoma 28
570 c INF089 Inflammatory Bowel Disease 6 28
571 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
572 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
573 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
574 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
575 c INF078 Inflammatory Bowel Disease 2 28
576 c FNC062 Fanconi Anemia, Complementation Group S 28
577 PHS014 Phosphoglycerate Kinase 1 Deficiency 28
578 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
579 c INF075 Inflammatory Bowel Disease 16 27
580 ANH003 Anhaptoglobinemia 27
581 c INF088 Inflammatory Bowel Disease 5 27
582 c PSD107 Pseudo-Torch Syndrome 2 27
583 CYN002 Cyanosis, Transient Neonatal 27
584 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
585 c OST120 Osteopetrosis, Autosomal Recessive 5 26
586 c SPH017 Spherocytosis, Type 5 26
587 ACD001 Acidophil Adenoma 26
588 HMP028 Hemophagocytic Syndrome Associated with an Infection 26
589 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
590 HDG004 Hodgkin's Granuloma 26
591 c DMN017 Diamond-Blackfan Anemia 10 25
592 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
593 c GLY001 Glycogen Storage Disease Ix 25
594 c DMN022 Diamond-Blackfan Anemia 9 25
595 RFR007 Refractory Anemia with Excess Blasts in Transformation 25
596 c ELL010 Elliptocytosis 1 25
597 CMP041 Complement Factor D Deficiency 25
598 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 25
599 c HRM020 Hermansky-Pudlak Syndrome 10 25
600 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 25
601 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 24
602 IND003 Indolent Myeloma 24
603 DND003 Dendritic Cell Thymoma 24
604 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
605 ATM069 Autoimmune Hemolytic Anemia, Warm Type 24
606 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 24
607 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
608 c DMN019 Diamond-Blackfan Anemia 4 24
609 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 24
610 c DMN024 Diamond-Blackfan Anemia 7 23
611 c DMN018 Diamond-Blackfan Anemia 5 23
612 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 23
613 c ATS210 Autosomal Recessive Sideroblastic Anemia 23
614 c INF090 Inflammatory Bowel Disease 7 23
615 P MNS011 Monosomy 9q22.3 22
616 c INF072 Inflammatory Bowel Disease 11 22
617 c MNS008 Monosomy 21 22
618 FCT032 Factor Xiii, a Subunit, Deficiency of 22
619 c DMN029 Diamond-Blackfan Anemia 11 22
620 RFM002 Roifman-Chitayat Syndrome 22
621 c TRC078 Trichohepatoenteric Syndrome 2 22
622 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
623 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
624 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 22
625 P SLF001 Sulfhemoglobinemia 22
626 c FNC061 Fanconi Anemia, Complementation Group W 22
627 LFF002 Loeffler Syndrome 22
628 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 21
629 ARG006 Aregenerative Anemia 21
630 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
631 c DMN020 Diamond-Blackfan Anemia 8 21
632 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 21
633 c INF162 Inflammatory Bowel Disease 25 21
634 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 21
635 c SCN051 Secondary Pulmonary Alveolar Proteinosis 21
636 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 21
637 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
638 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
639 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 20
640 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 20
641 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 20
642 HDG006 Hodgkin's Paragranuloma 20
643 c DMN028 Diamond-Blackfan Anemia 12 20
644 FCT033 Factor Xiii, B Subunit, Deficiency of 20
645 P PRC045 Preeclampsia/eclampsia 5 20
646 c DMN039 Diamond-Blackfan Anemia 17 20
647 c PRM150 Primary Localized Amyloidosis 20
648 c INF079 Inflammatory Bowel Disease 20 20
649 TLN012 Telangiectasia Macularis Eruptiva Perstans 20
650 c DMN030 Diamond-Blackfan Anemia 13 19
651 HVY003 Heavy Chain Deposition Disease 19
652 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 19
653 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 19
654 c DMN040 Diamond-Blackfan Anemia 16 19
655 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 19
656 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
657 c PRC034 Preeclampsia/eclampsia 4 18
658 c AHM002 Ah Amyloidosis 18
659 c PSR022 Psoriasis 15, Pustular 18
660 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 18
661 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 18
662 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 17
663 CTR107 Cataract 13 with Adult I Phenotype 17
664 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 17
665 c GLY093 Glycogen Storage Disease Ixa 17
666 c INF073 Inflammatory Bowel Disease 12 17
667 c ACQ004 Acquired Hemangioma 17
668 HYP018 Hyperglobulinemic Purpura 16
669 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 16
670 ISL085 Isolated Agammaglobulinemia 16
671 c INF080 Inflammatory Bowel Disease 21 16
672 HYP765 Hyperbilirubinemia, Shunt, Primary 16
673 c DMN045 Diamond-Blackfan Anemia-Like 16
674 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 15
675 STR007 Stress Polycythemia 15
676 LFR008 L-Ferritin Deficiency 15
677 NNT054 Neonatal Alloimmune Neutropenia 15
678 c INF091 Inflammatory Bowel Disease 8 15
679 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 15
680 TRN017 Transient Neonatal Neutropenia 14
681 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 14
682 c INF076 Inflammatory Bowel Disease 18 14
683 LGH014 Light and Heavy Chain Deposition Disease 14
684 ISL033 Isolated Delta-Storage Pool Disease 14
685 c PSD023 Pseudo-Gaucher Disease 14
686 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
687 c INF084 Inflammatory Bowel Disease 26 13
688 c INF082 Inflammatory Bowel Disease 23 13
689 c INF085 Inflammatory Bowel Disease 27 13
690 c INF083 Inflammatory Bowel Disease 24 13
691 c INF074 Inflammatory Bowel Disease 15 13
692 c INF081 Inflammatory Bowel Disease 22 13
693 INT034 Intracranial Cavernous Angioma 13
694 LCL017 Localized Pagetoid Reticulosis 13
695 c INF161 Inflammatory Bowel Disease 28 12
696 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
697 LTH044 Lutheran Null 12
698 c INF170 Inflammatory Bowel Disease 29 12
699 BLD072 Bleeding Disorder, East Texas Type 12
700 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
701 PRT025 Protein-Deficiency Anemia 11
702 c MYL070 Myeloproliferative Disease, Autosomal Recessive 11
703 P RFR014 Refractory Anemia with Excess Blasts Type 2 11
704 c PRC032 Preeclampsia/eclampsia 2 10
705 c PRC033 Preeclampsia/eclampsia 3 10
706 CGL001 Coagulation Protein Disease 10
707 SML030 Smouldering Systemic Mastocytosis 10
708 c SLF013 Sulfhemoglobinemia, Congenital 9
709 c KRN003 Kernicterus Due to Isoimmunization 9
710 c MCR162 Macroglobulinemia, Waldenstrom 2 9
711 DCN001 Dic in Newborn 9
712 SMP006 Simple Cryoglobulinemia 9
713 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
714 NDL018 Nodular Urticaria Pigmentosa 8
715 c ELN001 Elane-Related Neutropenia 8
716 DSS003 Disseminated Eosinophilic Collagen Disease 8
717 c EPB003 Epb42-Related Hereditary Spherocytosis 7
718 PDT039 Pediatric Castleman Disease 7
719 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 7
720 CHR058 Chronic Congestive Splenomegaly 7
721 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 7
722 c SCN042 Secondary Hypereosinophilic Syndrome 7
723 CVR005 Cavernous Hemangioma of Orbit 7
724 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 7
725 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
726 SLT002 Solitary Plasmacytoma of Chest Wall 6
727 c SSC054 Susceptibility to Localized Juvenile Periodontitis 6
728 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
729 PLY128 Polyclonal Hyperviscosity Syndrome 6
730 c RFR015 Refractory Anemia with Excess Blasts Type 1 6
731 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 6
732 PLQ001 Plaque-Form Urticaria Pigmentosa 6
733 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 6
734 TYP022 Typical Urticaria Pigmentosa 6
735 CHR062 Chronic Erythremia 5
736 EXT049 Extramedullary Soft Tissue Plasmacytoma 5
737 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 5
738 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 5
739 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 5
740 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 4
741 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 4
742 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 4
743 UNC008 Unclassified Myelodysplastic Syndrome 4
744 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 4
745 CVR003 Cavernous Hemangioma of Face 4
746 PRT104 Protein S Acquired Deficiency 4
747 PHY001 Physiological Polycythemia 4
748 DHY001 Dehydration Polycythemia 3
749 MTH064 Methemoglobinemia, Beta-Globin Type 36
750 FCT007 Factor Vii Deficiency 61
751 RTC002 Reticular Dysgenesis 50
752 BRG013 Buerger Disease 61
753 FCT002 Factor Xi Deficiency 58
754 MCL009 Mcleod Syndrome 48
755 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 46
756 c HMG029 Hemoglobin Se Disease 25
757 BDD001 Budd-Chiari Syndrome 61
758 EVN001 Evans' Syndrome 48
759 CMR002 Coumarin Resistance 51
760 GLT018 Glut1 Deficiency Syndrome 1 42
761 MYL031 Myeloproliferative Neoplasm 62
762 P ANT006 Antiphospholipid Syndrome 60
763 JCB001 Jacobsen Syndrome 54
764 SBL008 Sea-Blue Histiocyte Disease 51
765 URN003 Urinary Schistosomiasis 50
766 P DYS026 Dysfibrinogenemia 44
767 CTS005 Catastrophic Antiphospholipid Syndrome 44
768 IVC001 Ivic Syndrome 30
769 c ANT041 Antiphospholipid Syndrome, Familial 20
770 c ERY032 Erythrocytosis, Familial, 4 16
771 HMT019 Hematohidrosis 13
772 KTZ001 Kotzot-Richter Syndrome 8
773 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 8
774 STR067 Stroke, Ischemic 85
775 P PLM037 Pulmonary Hypertension 77
776 VRC005 Varicose Veins 65
777 CHR635 Chromosome 5q Deletion Syndrome 51
778 CRB138 Core Binding Factor Acute Myeloid Leukemia 48
779 CYT019 Cytogenetically Normal Acute Myeloid Leukemia 35
780 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 33
781 HMG009 Hemoglobin Zurich 23
782 c ERY063 Erythrocytosis, Familial, 5 15
783 PRP001 Propionic Acidemia 63
784 P HRD011 Hereditary Spherocytosis 58
785 P PRR002 Pure Red-Cell Aplasia 52
786 c ERY048 Erythrocytosis, Familial, 2 52
787 ARG007 Argininemia 51
788 CLP006 Clopidogrel Resistance 45
789 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 43
790 PLS030 Plasminogen Deficiency, Type I 39
791 c DYS165 Dysfibrinogenemia, Congenital 38
792 P HYP769 Hyperlysinemia, Type I 37
793 VSC008 Vascular Hemostatic Disease 35
794 c HRD146 Hereditary Methemoglobinemia 29
795 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
796 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
797 c CHR089 Chronic Kidney Failure 73
798 PRP027 Peripheral Vascular Disease 71
799 P TTR001 Tetralogy of Fallot 71
800 c ART115 Aortic Valve Disease 1 71
801 P PRT008 Proteus Syndrome 69
802 LNG099 Lung Disease 67
803 HYP020 Hyperprolactinemia 64
804 P CRD119 Cardiac Arrest 64
805 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62
806 ANG054 Angina Pectoris 62
807 IRN002 Iron Metabolism Disease 60
808 PYR041 Pyruvate Kinase Deficiency of Red Cells 59
809 P INT030 Intracranial Aneurysm 59
810 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 59
811 TRN015 Transient Cerebral Ischemia 58
812 LYM027 Lymphopenia 57
813 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
814 P LDD007 Liddle Syndrome 1 56
815 CLC001 Calciphylaxis 53
816 PRN011 Pernicious Anemia 53
817 c ACQ014 Acquired Hemophilia 52
818 HPT025 Hepatic Lipase Deficiency 52
819 BBS001 Babesiosis 51
820 FCT004 Factor Xii Deficiency 50
821 PRP056 Porphyria, Acute Hepatic 48
822 CVR006 Cavernous Hemangioma 48
823 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 47
824 c ACQ042 Acquired Hemophilia a 44
825 c PST106 Post-Cardiac Arrest Syndrome 33
826 CRN270 Coronary Artery Dissection, Spontaneous 28
827 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
828 MTH081 Mthfr Gene Variant 27
829 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 26
830 c PRT063 Proteus-Like Syndrome 26
831 c LDD008 Liddle Syndrome 2 23
832 HMC016 Homocystinuria Due to Cbs Deficiency 22
833 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 22
834 PRT112 Portal Hypertension, Noncirrhotic 20
835 c ATR072 Atrial Fibrillation, Familial, 13 20
836 c ATR039 Atrial Fibrillation, Familial, 4 20
837 c ATR035 Atrial Fibrillation, Familial, 6 19
838 c ATR061 Atrial Fibrillation, Familial, 10 19
839 c ATR059 Atrial Fibrillation, Familial, 11 19
840 c ATR069 Atrial Fibrillation, Familial, 12 19
841 c ATR037 Atrial Fibrillation, Familial, 7 18
842 c ATR068 Atrial Fibrillation, Familial, 14 18
843 c ATR038 Atrial Fibrillation, Familial, 3 17
844 c ERY031 Erythrocytosis, Familial, 3 17
845 ANG063 Angiolipomatosis, Familial 16
846 c ATR070 Atrial Fibrillation, Familial, 9 16
847 P STM009 Stomatocytosis I 13
848 FYP001 Faye-Petersen-Ward-Carey Syndrome 11
849 c LDD009 Liddle Syndrome 3 9
850 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
851 HML017 Hemolytic Uremic Syndrome, Atypical, Childhood 6
852 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 4
853 TSY001 Tau Syndrome 4
854 c STM013 Stomatocytosis Ii 3
855 ULC004 Ulcerative Colitis 80
856 P LVR013 Liver Disease 75
857 P GRF003 Graft-Versus-Host Disease 72
858 P ATR011 Atrial Fibrillation 69
859 P PLM036 Pulmonary Fibrosis 69
860 P KDN018 Kidney Disease 68
861 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 68
862 c SYS004 Systemic Mastocytosis 67
863 TKY002 Takayasu Arteritis 67
864 P CNG411 Congenital Disorder of Glycosylation, Type in 66
865 OST003 Osteonecrosis 66
866 c CHR417 Chronic Graft Versus Host Disease 66
867 P HYP098 Hypereosinophilic Syndrome 65
868 P TXP001 Toxoplasmosis 65
869 c ART101 Aortic Valve Disease 2 65
870 P THR014 Thrombocytopenia 64
871 P MST009 Mastocytosis 63
872 P BRG001 Brugada Syndrome 62
873 P MLG056 Malignant Hyperthermia 62
874 LKC009 Leukocyte Adhesion Deficiency, Type I 61
875 CHK001 Chikungunya 61
876 P GLM007 Glomerulonephritis 60
877 PLS011 Plasmacytoma 60
878 DBT084 Diabetes Mellitus, Ketosis-Prone 60
879 NPH091 Nephrolithiasis, Calcium Oxalate 60
880 CYT008 Cytomegalovirus Infection 60
881 P NPH012 Nephrotic Syndrome 59
882 PLC005 Placental Insufficiency 59
883 NTR005 Nutritional Deficiency Disease 58
884 PTN001 Patent Foramen Ovale 58
885 c CNG021 Congenital Toxoplasmosis 58
886 DBT010 Diabetic Neuropathy 58
887 c VNW010 Von Willebrand Disease, Type 2 58
888 P MNC007 Monocytic Leukemia 58
889 c LKM070 Leukemia, Acute Monocytic 57
890 c ACT135 Acute Graft Versus Host Disease 57
891 c INF145 Infantile Liver Failure Syndrome 1 57
892 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 57
893 c AMY009 Amyloidosis Aa 56
894 FDL002 Food Allergy 56
895 INF034 Infective Endocarditis 56
896 BLR008 Bilirubin Metabolic Disorder 55
897 CTR172 Citrullinemia, Classic 55
898 P MGL001 Megaloblastic Anemia 54
899 P INF037 Inflammatory Bowel Disease 54
900 VRC001 Varicocele 54
901 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
902 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
903 LG4001 Lig4 Syndrome 53
904 P TCL004 T-Cell Leukemia 53
905 c INF071 Inflammatory Bowel Disease 1 53
906 c ACT134 Acute Liver Failure 53
907 ESN015 Eosinophilic Fasciitis 52
908 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 52
909 ATY042 Atypical Chronic Myeloid Leukemia 51
910 BLD044 Bladder Disease 51
911 c NPH055 Nephrotic Syndrome, Type 1 51
912 c CHR418 Chronic Leukemia 51
913 OBS037 Obesity-Hypoventilation Syndrome 51
914 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 51
915 CHR563 Chronic Eosinophilic Leukemia 51
916 HYP063 Hypersplenism 51
917 CRD137 Cardiogenic Shock 51
918 SPL004 Splenic Marginal Zone Lymphoma 50
919 INT017 Intestinal Schistosomiasis 50
920 CTS011 Cutis Marmorata Telangiectatica Congenita 50
921 HYP088 Hyper-Igd Syndrome 50
922 P PLM006 Pulmonary Alveolar Proteinosis 50
923 PRL017 Prolymphocytic Leukemia 49
924 ATN002 Autonomic Nervous System Disease 49
925 c FLL041 Follicular Lymphoma 1 49
926 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 49
927 P AFB001 Afibrinogenemia 49
928 RDD003 Riddle Syndrome 49
929 PLS009 Plasma Cell Neoplasm 49
930 MST002 Mast-Cell Leukemia 49
931 AGG002 Aggressive Systemic Mastocytosis 49
932 RTC009 Reticulum Cell Sarcoma 48
933 MYD002 Myd88 Deficiency 48
934 INT054 Intraocular Lymphoma 48
935 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 47
936 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 47
937 CNG028 Congenital Hypoplastic Anemia 47
938 c MGL018 Megaloblastic Anemia 1 47
939 c CNG027 Congenital Hemolytic Anemia 47
940 THY009 Thyroid Lymphoma 47
941 c VNW005 Von Willebrand Disease, Type 1 46
942 FLL013 Follicular Dendritic Cell Sarcoma 46
943 c NNS007 Nonsyndromic Deafness 46
944 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 45
945 CMP004 Complement Factor I Deficiency 45
946 FCT005 Factor Xiii Deficiency 45
947 P DYS021 Dysautonomia 45
948 MCR225 Macrophage Activation Syndrome 45
949 c CHR064 Chronic Monocytic Leukemia 44
950 CMP042 Complement Factor H Deficiency 44
951 MST004 Mast Cell Neoplasm 44
952 LKC003 Leukocyte Disease 43
953 RTN021 Retinal Vascular Occlusion 43
954 HYP081 Hypolipoproteinemia 43
955 BCL002 B Cell Deficiency 43
956 IMM184 Immunodeficiency 17 43
957 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 43
958 ZKF001 Zika Fever 43
959 MYL013 Myeloperoxidase Deficiency 43
960 c DFN200 Deafness, Autosomal Dominant 17 43
961 P PRM293 Primary Mediastinal B-Cell Lymphoma 42
962 c ATS282 Autosomal Recessive Malignant Osteopetrosis 42
963 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 42
964 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 42
965 ATN011 Autoinflammation with Infantile Enterocolitis 42
966 HYP801 Hyperferritinemia with or Without Cataract 41
967 PDT001 Pediatric Lymphoma 41
968 HYP236 Hyperbilirubinemia, Rotor Type 41
969 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 41
970 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 41
971 c FNC024 Fanconi Anemia, Complementation Group D1 41
972 P PST059 Pustular Psoriasis 41
973 ALD013 Aldosterone-Producing Adenoma 41
974 c DFN174 Deafness, Autosomal Recessive 44 41
975 c BRG005 Brugada Syndrome 1 41
976 SHW001 Shwartzman Phenomenon 40
977 c NPH049 Nephrotic Syndrome, Type 2 40
978 c DFN203 Deafness, Autosomal Recessive 30 40
979 c MLG147 Malignant Hyperthermia 1 40
980 CVR010 Cavernous Malformation 40
981 NDL024 Nodal Marginal Zone Lymphoma 40
982 SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 40
983 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
984 c DFN360 Deafness, Autosomal Dominant 69 39
985 c HRM011 Hermansky-Pudlak Syndrome 8 39
986 NDL020 Nodal Marginal Zone B-Cell Lymphoma 39
987 INT221 Intravascular Large B-Cell Lymphoma 39
988 c PRM225 Primary Thrombocytopenia 39
989 EXT007 Extracutaneous Mastocytoma 39
990 RTN072 Retinohepatoendocrinologic Syndrome 39
991 HNZ004 Heinz Body Anemias 39
992 INT038 Interdigitating Dendritic Cell Sarcoma 39
993 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39
994 HMP018 Hemophilic Arthropathy 39
995 c THR111 Thrombocytopenia 3 39
996 SPL012 Splenic Disease 39
997 MST001 Mast-Cell Sarcoma 38
998 BLR027 Blue Rubber Bleb Nevus 38
999 FTL004 Fetal Erythroblastosis 38
1000 OST008 Osteosclerotic Myeloma 38
1001 c DFN117 Deafness, Autosomal Dominant 15 38
1002 c ADL001 Adult Lymphoma 38
1003 c HRM012 Hermansky-Pudlak Syndrome 9 38
1004 HYP223 Hypoplastic Right Heart Syndrome 38
1005 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1006 ACT177 Acute Basophilic Leukemia 37
1007 PHS009 Phosphoglycerate Kinase Deficiency 37
1008 MYL067 Myeloproliferative Disorder, Chronic, with Eosinophilia 37
1009 GDS001 Good Syndrome 37
1010 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 37
1011 c DFN136 Deafness, Autosomal Dominant 9 37
1012 SLT001 Solitary Osseous Plasmacytoma 36
1013 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 36
1014 c DFN168 Deafness, Autosomal Recessive 26 36
1015 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
1016 OMS001 Omsk Hemorrhagic Fever 36
1017 HST016 Histiocytic Sarcoma 36
1018 AGM004 Agammaglobulinemia, Non-Bruton Type 36
1019 c ATM045 Autoimmune Glomerulonephritis 36
1020 c WLF009 Wolfram Syndrome 2 36
1021 c BLD152 Bleeding Disorder, Platelet-Type, 16 36
1022 CMP001 Composite Lymphoma 36
1023 WLD007 Waldenstroem's Macroglobulinemia 35
1024 NCT003 N-Acetylglutamate Synthase Deficiency 35
1025 MDS019 Mediastinal Malignant Lymphoma 35
1026 PYR040 Pyropoikilocytosis, Hereditary 35
1027 CTN001 Cutaneous Solitary Mastocytoma 35
1028 c DFN330 Deafness, Autosomal Recessive 97 35
1029 c DFN192 Deafness, Autosomal Dominant 23 34
1030 RFR002 Refractory Hairy Cell Leukemia 34
1031 c DFN252 Deafness, Autosomal Recessive 24 34
1032 NNT007 Neonatal Leukemia 34
1033 c NPH054 Nephrotic Syndrome, Type 3 34
1034 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
1035 c HRM010 Hermansky-Pudlak Syndrome 7 34
1036 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 34
1037 ALK003 Aleukemic Leukemia Cutis 33
1038 c DFN353 Deafness, Autosomal Dominant 12 33
1039 ASP026 Asplenia, Isolated Congenital 33
1040 LYM014 Lymphangitis 32
1041 c BRG007 Brugada Syndrome 5 32
1042 c DFN095 Deafness, Autosomal Recessive 25 32
1043 c DFN114 Deafness, Autosomal Recessive 67 32
1044 IMM070 Immunodeficiency 13 32
1045 c DFN151 Deafness, Autosomal Dominant 24 32
1046 MYL074 Myelodysplastic Syndrome with Excess Blasts 32
1047 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 32
1048 INT020 Intravenous Leiomyomatosis 32
1049 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
1050 c DFN183 Deafness, Autosomal Recessive 83 32
1051 c DFN184 Deafness, Autosomal Recessive 85 32
1052 c BLD154 Bleeding Disorder, Platelet-Type, 12 32
1053 c BLD157 Bleeding Disorder, Platelet-Type, 9 32
1054 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 32
1055 PRS002 Prostate Lymphoma 32
1056 PRP038 Properdin Deficiency, X-Linked 32
1057 c DFN148 Deafness, Autosomal Dominant 16 31
1058 c DFN260 Deafness, Autosomal Recessive 89 31
1059 c ACQ005 Acquired Thrombocytopenia 31
1060 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 31
1061 c DFN171 Deafness, Autosomal Recessive 33 31
1062 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 30
1063 c DFN269 Deafness, Autosomal Recessive 98 30
1064 c BLD156 Bleeding Disorder, Platelet-Type, 14 30
1065 c DFN118 Deafness, Autosomal Dominant 44 30
1066 c BRG006 Brugada Syndrome 2 30
1067 PRD001 Predominantly Cortical Thymoma 30
1068 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 30
1069 c ATS006 Autosomal Recessive Nonsyndromic Deafness 30
1070 CLS052 Classic Hairy Cell Leukemia 30
1071 c DFN240 Deafness, Autosomal Recessive 96 30
1072 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 30
1073 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 29
1074 HST008 Histiocytic and Dendritic Cell Cancer 29
1075 c GLY043 Glycogen Storage Disease Xii 29
1076 c DFN116 Deafness, Autosomal Recessive 74 29
1077 c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 29
1078 PLM049 Plummer Vinson Syndrome 29
1079 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 29
1080 c ATS005 Autosomal Dominant Nonsyndromic Deafness 29
1081 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
1082 c DFN119 Deafness, Autosomal Dominant 50 28
1083 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
1084 c DFN160 Deafness, Autosomal Dominant 52 28
1085 NTR011 Neutrophil-Specific Granule Deficiency 28
1086 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 28
1087 LFF001 Loeffler Endocarditis 28
1088 c DFN246 Deafness, Autosomal Dominant 51 28
1089 EPT007 Epithelial Malignant Thymoma 28
1090 c NPH047 Nephrotic Syndrome, Type 4 28
1091 c ACR084 Aicardi-Goutieres Syndrome 7 28
1092 c LVR030 Liver Failure, Infantile, Transient 27
1093 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 27
1094 c DFN181 Deafness, Autosomal Recessive 66 27
1095 FCL083 Ficolin 3 Deficiency 27
1096 c ACQ016 Acquired Pure Red Cell Aplasia 27
1097 c HYP248 Hyperprolinemia, Type I 27
1098 c DFN150 Deafness, Autosomal Dominant 21 27
1099 c SNG011 Singleton-Merten Syndrome 1 27
1100 c DFN111 Deafness, Autosomal Recessive 35 27
1101 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 27
1102 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 27
1103 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
1104 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 27
1105 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
1106 HYP648 Hypertension and Brachydactyly Syndrome 26
1107 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
1108 c DFN248 Deafness, Autosomal Recessive 18b 26
1109 IMM062 Immunodeficiency 11 26
1110 c ERY065 Erythrocytosis, Familial, 7 26
1111 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
1112 c DFN280 Deafness, Autosomal Recessive 26
1113 TMP008 Tempi Syndrome 26
1114 c DFN284 Deafness, Autosomal Dominant 67 26
1115 HGH020 High Molecular Weight Kininogen Deficiency 25
1116 CD8002 Cd8 Deficiency, Familial 25
1117 HSH001 Hashimoto-Pritzker Syndrome 25
1118 c DFN154 Deafness, Autosomal Dominant 31 25
1119 IMM095 Immunodeficiency 35 25
1120 NTR006 Neutrophil Immunodeficiency Syndrome 25
1121 c BRG003 Brugada Syndrome 3 25
1122 P PLM064 Pulmonary Sequestration 25
1123 c SBC004 Subacute Myeloid Leukemia 25
1124 c BLD127 Bleeding Disorder, Platelet-Type, 19 25
1125 c DFN272 Deafness, Autosomal Dominant 54 25
1126 c BLD125 Bleeding Disorder, Platelet-Type, 17 24
1127 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 24
1128 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 24
1129 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 24
1130 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 24
1131 c CND036 Candidiasis, Familial, 4 24
1132 c DFN263 Deafness, Autosomal Recessive 68 24
1133 c OST106 Osteopetrosis, Autosomal Recessive 8 24
1134 c INF077 Inflammatory Bowel Disease 19 24
1135 BRR004 Baroreflex Failure 24
1136 IMM143 Immunodeficiency 48 24
1137 NTR036 Neutropenia, Severe Congenital, X-Linked 24
1138 c FML334 Familial Candidiasis 24
1139 c DFN155 Deafness, Autosomal Dominant 41 24
1140 c DMN006 Diamond-Blackfan Anemia 3 24
1141 IMM120 Immunodeficiency 40 24
1142 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23
1143 c DFN266 Deafness, Autosomal Dominant 4b 23
1144 c MLG148 Malignant Hyperthermia 2 23
1145 IMM142 Immunodeficiency 50 23
1146 c DFN163 Deafness, Autosomal Dominant 7 23
1147 c HYP597 Hyperprolinemia, Type Ii 23
1148 c DMN005 Diamond-Blackfan Anemia 2 23
1149 c MLG149 Malignant Hyperthermia 3 23
1150 FBR023 Fibrinogen Deficiency, Congenital 22
1151 IMM068 Immunodeficiency 8 22
1152 c DFN156 Deafness, Autosomal Dominant 43 22
1153 c DFN243 Deafness, Autosomal Recessive 88 22
1154 c DFN173 Deafness, Autosomal Recessive 40 22
1155 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
1156 c DFN161 Deafness, Autosomal Dominant 53 22
1157 c DFN167 Deafness, Autosomal Recessive 20 22
1158 c INF138 Infantile Liver Failure Syndrome 2 22
1159 c DFN158 Deafness, Autosomal Dominant 49 22
1160 c DFN278 Deafness, Autosomal Dominant 65 22
1161 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 22
1162 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1163 c NPH073 Nephrotic Syndrome, Type 8 22
1164 c CND025 Candidiasis, Familial, 8 22
1165 c THR102 Thrombocytopenia 5 22
1166 IMM190 Immunodeficiency 55 22
1167 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1168 IMM117 Immunodeficiency by Defective Expression of Hla Class 1 22
1169 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 22
1170 c DFN259 Deafness, Autosomal Recessive 86 22
1171 TRC018 Tracheal Lymphoma 22
1172 c DFN166 Deafness, Autosomal Recessive 17 22
1173 PRM128 Primary Cutaneous Follicle Center Lymphoma 22
1174 IMM077 Immunodeficiency 20 22
1175 c CND033 Candidiasis, Familial, 1 22
1176 c MLG150 Malignant Hyperthermia 4 22
1177 IMM180 Immunodeficiency 28 22
1178 c DFN261 Deafness, Autosomal Recessive 46 21
1179 c NPH074 Nephrotic Syndrome, Type 9 21
1180 c SBC010 Subacute Glomerulonephritis 21
1181 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1182 IMM183 Immunodeficiency 32a 21
1183 c BRG012 Brugada Syndrome 9 21
1184 c DFN180 Deafness, Autosomal Recessive 65 21
1185 c DFN271 Deafness, Autosomal Dominant 58 21
1186 IND009 Indeterminate Cell Histiocytosis 21
1187 c AGM018 Agammaglobulinemia, X-Linked, Type 2 21
1188 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1189 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 21
1190 c DFN257 Deafness, Autosomal Dominant 33 21
1191 CRB087 Cerebral Arteriosclerosis 21
1192 MNS002 Mini Stroke 21
1193 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 21
1194 MDS006 Mediastinal Gray Zone Lymphoma 21
1195 c BLD121 Bleeding Disorder, Platelet-Type, 15 21
1196 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 21
1197 c DFN281 Deafness, Autosomal Recessive 103 21
1198 GLL013 Gallbladder Lymphoma 21
1199 c BLD123 Bleeding Disorder, Platelet-Type, 13 21
1200 c DFN099 Deafness, Autosomal Dominant 2b 21
1201 IMM063 Immunodeficiency 15 21
1202 c ADL093 Adult Acute Monocytic Leukemia 21
1203 PLS003 Plasmacytic Leukemia 21
1204 c DFN254 Deafness, Autosomal Recessive 84b 21
1205 c SDR005 Sideroblastic Anemia Acquired 21
1206 c MLG151 Malignant Hyperthermia 5 21
1207 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1208 c DFN169 Deafness, Autosomal Recessive 27 20
1209 IMM075 Immunodeficiency 22 20
1210 c ATS229 Autosomal Recessive Lymphoproliferative Disease 20
1211 IMM134 Immunodeficiency, Common Variable, 13 20
1212 c FML344 Familial Mediterranean Fever, Autosomal Dominant 20
1213 c BRG009 Brugada Syndrome 7 20
1214 c DFN149 Deafness, Autosomal Dominant 18 20
1215 c DFN164 Deafness, Autosomal Recessive 13 20
1216 c DFN172 Deafness, Autosomal Recessive 38 20
1217 c DFN162 Deafness, Autosomal Dominant 59 20
1218 NSL004 Nasal Cavity Lymphoma 20
1219 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 20
1220 ACT176 Acute Panmyelosis with Myelofibrosis 20
1221 c BLD133 Bleeding Disorder, Platelet-Type, 20 20
1222 BSP004 Bisphosphoglycerate Mutase Deficiency 20
1223 IMM071 Immunodeficiency 12 20
1224 c NPH103 Nephrotic Syndrome, Type 15 20
1225 c OST171 Osteopetrosis, Autosomal Dominant 3 20
1226 IMM079 Immunodeficiency, Common Variable, 11 20
1227 EPS038 Episodic Angioedema with Eosinophilia 20
1228 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 20
1229 HHV001 Hhv-6 Encephalitis 20
1230 c DFN328 Deafness, Autosomal Dominant 72 20
1231 c DFN265 Deafness, Autosomal Recessive 76 20
1232 IMM150 Immunodeficiency 52 20
1233 c DFN329 Deafness, Autosomal Dominant 66 20
1234 c DFN273 Deafness, Autosomal Recessive 101 20
1235 c NPH096 Nephrotic Syndrome, Type 12 20
1236 ALK017 Alk-Positive Large B-Cell Lymphoma 20
1237 c DFN364 Deafness, Autosomal Recessive 57 20
1238 c NPH095 Nephrotic Syndrome, Type 11 20
1239 MSP001 Masp2 Deficiency 20
1240 c DFN277 Deafness, Autosomal Recessive 102 19
1241 c BLD126 Bleeding Disorder, Platelet-Type, 18 19
1242 c DFN182 Deafness, Autosomal Recessive 71 19
1243 c DFN179 Deafness, Autosomal Recessive 62 19
1244 c DFN153 Deafness, Autosomal Dominant 30 19
1245 c DFN157 Deafness, Autosomal Dominant 47 19
1246 c DFN283 Deafness, Autosomal Recessive 104 19
1247 c CND031 Candidiasis, Familial, 9 19
1248 c DFN242 Deafness, Autosomal Recessive 70 19
1249 c DFN134 Deafness, Autosomal Dominant 40 19
1250 c THR048 Thrombocytopenia 4 19
1251 c DFN325 Deafness, Autosomal Recessive 108 19
1252 c MCR161 Macroglobulinemia, Waldenstrom 1 19
1253 c SNG012 Singleton-Merten Syndrome 2 19
1254 c DFN333 Deafness, Autosomal Dominant 73 19
1255 TCL022 T-Cell Receptor-Alpha/beta Deficiency 19
1256 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 19
1257 c DFN274 Deafness, Autosomal Dominant 56 19
1258 c DFN165 Deafness, Autosomal Recessive 14 19
1259 c DFN175 Deafness, Autosomal Recessive 45 19
1260 c DFN361 Deafness, Autosomal Recessive 106 19
1261 IMM118 Immunodeficiency 42 19
1262 c DFN327 Deafness, Autosomal Dominant 70 19
1263 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 19
1264 c BRG004 Brugada Syndrome 4 19
1265 IMM076 Immunodeficiency 24 19
1266 IMM135 Immunodeficiency 46 19
1267 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 19
1268 IMM186 Immunodeficiency 27b 18
1269 c NPH104 Nephrotic Syndrome, Type 16 18
1270 c BRG010 Brugada Syndrome 8 18
1271 P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 18
1272 c ANK019 Ankrd26-Related Thrombocytopenia 18
1273 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
1274 c ATR092 Atrial Fibrillation, Familial, 15 18
1275 c DFN152 Deafness, Autosomal Dominant 27 18
1276 IMM181 Immunodeficiency 29 18
1277 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 18
1278 IMM182 Immunodeficiency 31a 18
1279 c NPH076 Nephrotic Syndrome, Type 10 18
1280 c DFN365 Deafness, Autosomal Recessive 109 18
1281 c DFN335 Deafness, Autosomal Dominant 71 18
1282 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 18
1283 THY006 Thymus Lymphoma 18
1284 c BRG008 Brugada Syndrome 6 17
1285 c ATR085 Atrial Fibrillation, Familial, 18 17
1286 c INF067 Inflammatory Bowel Disease 10 17
1287 c MLG152 Malignant Hyperthermia 6 17
1288 c DFN337 Deafness, Autosomal Recessive 107 17
1289 c CND027 Candidiasis, Familial, 3 17
1290 c DFN336 Deafness, Autosomal Dominant 68 17
1291 c INF068 Inflammatory Bowel Disease 13 17
1292 c CNG121 Congenital Pulmonary Alveolar Proteinosis 17
1293 c NPH093 Nephrotic Syndrome, Type 13 17
1294 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
1295 c INF093 Inflammatory Bowel Disease 14 16
1296 c INF160 Inflammatory Bowel Disease 17 16
1297 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 16
1298 HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 16
1299 c PLM044 Pulmonary Fibrosis, Familial 16
1300 PRM133 Primary Pulmonary Lymphoma 16
1301 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1302 c DFN367 Deafness, Autosomal Recessive 110 16
1303 c OTF001 Otof-Related Deafness 15
1304 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 15
1305 c CNG336 Congenital Analbuminemia 15
1306 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 15
1307 HYD045 Hydroa Vacciniforme-Like Lymphoma 15
1308 BSP001 Basophil Adenoma 14
1309 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1310 c ATS335 Autosomal Recessive Nonsyndromic Deafness 105 14
1311 c DYS194 Dysautonomia-Like Disorder 14
1312 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 14
1313 c DFN368 Deafness, Autosomal Dominant 74 13
1314 c DFN369 Deafness, Autosomal Recessive 111 13
1315 STR014 Sternum Lymphoma 13
1316 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 13
1317 ALK014 Aleukemic Mast Cell Leukemia 13
1318 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 13
1319 c SBC006 Subacute Leukemia 12
1320 ACT179 Acute Myeloid Leukemia with 11q23 Abnormalities 12
1321 APP002 Appendix Lymphoma 12
1322 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12
1323 RFR001 Refractory Plasma Cell Neoplasm 12
1324 ALP049 Alopecia Antibody Deficiency 12
1325 c ERY064 Erythrocytosis, Familial, 6 11
1326 c SBC015 Subacute Monocytic Leukemia 11
1327 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 11
1328 PRN002 Paranasal Sinus Lymphoma 11
1329 RCT002 Rectum Lymphoma 11
1330 c CNG257 Congenital Pulmonary Sequestration 11
1331 CVR004 Cavernous Hemangioma of Colon 10
1332 ALK002 Aleukemic Monocytic Leukemia Cutis 10
1333 BSP005 Basophilic Adenocarcinoma 10
1334 c CLC009 Clcn7-Related Osteopetrosis 10
1335 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 9
1336 NKD001 Nik Deficiency 9
1337 BND002 B- and T-Cell Mixed Leukemia 9
1338 URT017 Ureteral Lymphoma 9
1339 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 9
1340 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 9
1341 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 9
1342 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 9
1343 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 9
1344 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 9
1345 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 9
1346 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 8
1347 CCM002 Cecum Lymphoma 8
1348 LYM117 Lymphocytic Hypereosinophilic Syndrome 8
1349 INT035 Intrapelvic Lymph Node Leukemic Reticuloendotheliosis 8
1350 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1351 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
1352 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 6
1353 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 6
1354 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1355 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1356 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 6
1357 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
1358 PRM165 Primary Plasmacytoma of the Bone 6
1359 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 6
1360 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
1361 ANS007 Anus Lymphoma 6
1362 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 6
1363 PRM142 Primary Oculocerebral Lymphoma 5
1364 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
1365 c FML317 Familial Monosomy 7 Syndrome 5
1366 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 5
1367 CLS019 Classic Mast Cell Leukemia 5
1368 c LCL003 Localized Pulmonary Fibrosis 5
1369 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 5
1370 PRM148 Primary Lymphoma of the Conjunctiva 5
1371 MTH001 Methotrexate-Associated Lymphoproliferation 4
1372 ANT036 Anti-Hla Hyperimmunization 3
1373 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
1374 VSC006 Vascular Cancer 51
1375 HYD038 Hydrops Fetalis, Nonimmune 50
1376 ACT119 Acute Promyelocytic Leukemia 60
1377 TWN001 Twin-to-Twin Transfusion Syndrome 49
1378 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 36
1379 MGK001 Megakaryocytic Leukemia 64
1380 VSC007 Vascular Disease 68
1381 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 33
1382 SCH028 Schlegelberger Grote Syndrome 7
1383 MST024 Mastocytosis, Cutaneous 64
1384 THR013 Thoracic Outlet Syndrome 55
1385 LKC005 Leukocyte Adhesion Deficiency, Type Iii 54
1386 FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 12
1387 CNN003 Conn's Syndrome 73
1388 P LYM118 Lymphoma 70
1389 P VSC011 Vasculitis 66
1390 c ART138 Aortic Aneurysm, Familial Abdominal, 1 65
1391 GTL001 Gitelman Syndrome 63
1392 ATR002 Atransferrinemia 52
1393 CHR105 Choreoacanthocytosis 49
1394 IRN004 Iron-Refractory Iron Deficiency Anemia 42
1395 c ATM104 Autoimmune Vasculitis 35
1396 c EYL003 Eye Lymphoma 28
1397 P FML305 Familial Abdominal Aortic Aneurysm 24
1398 c ART152 Aortic Aneurysm, Familial Abdominal, 3 11
1399 c ART151 Aortic Aneurysm, Familial Abdominal, 2 10
1400 c ART108 Aortic Aneurysm, Familial Abdominal, 4 9
1401 P LNG032 Lung Cancer 99
1402 P HYP607 Hypercholesterolemia, Familial 81
1403 MLD001 Melioidosis 73
1404 P LKM002 Leukemia 72
1405 P RSP003 Respiratory Failure 72
1406 P BLD134 Bladder Cancer 70
1407 c JVN004 Juvenile Myelomonocytic Leukemia 68
1408 ART005 Arteriovenous Malformation 65
1409 c ANM038 Anemia, Autoimmune Hemolytic 61
1410 P EHL001 Ehlers-Danlos Syndrome 61
1411 P CRG003 Crigler-Najjar Syndrome, Type I 61
1412 RBR001 Roberts Syndrome 60
1413 TRG002 Trigeminal Neuralgia 60
1414 c SVR001 Severe Acute Respiratory Syndrome 59
1415 SHG001 Shigellosis 58
1416 P HYP024 Hypoparathyroidism 54
1417 c LNG031 Lung Benign Neoplasm 53
1418 MYL004 Myelodysplastic Myeloproliferative Cancer 52
1419 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
1420 CHL061 Childhood Leukemia 51
1421 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 50
1422 c CRG004 Crigler-Najjar Syndrome, Type Ii 50
1423 PRP009 Peripartum Cardiomyopathy 50
1424 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 48
1425 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
1426 GLC011 Galactose Epimerase Deficiency 45
1427 c HYP396 Hypercholesterolemia, Autosomal Recessive 43
1428 NRL004 Neuroleptic Malignant Syndrome 43
1429 PYR037 Pyruvate Carboxylase Deficiency 41
1430 c BLD008 Bladder Carcinoma in Situ 39
1431 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 34
1432 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 32
1433 c ATM068 Autoimmune Hypoparathyroidism 30
1434 BNM005 Bone Marrow Necrosis 29
1435 c BLD040 Bladder Benign Neoplasm 24
1436 c EHL065 Ehlers-Danlos Syndrome, Type V 22
1437 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
1438 c TYP003 Type I Ehlers-Danlos Syndrome 12
1439 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 12
1440 c LNG003 Lung Carcinoma in Situ 9
1441 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 9
1442 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
1443 P CLR023 Colorectal Cancer 99
1444 MNT001 Mantle Cell Lymphoma 74
1445 LYM143 Lymphoma, Non-Hodgkin, Familial 73
1446 P AGM019 Agammaglobulinemia, X-Linked 73
1447 P FML018 Familial Mediterranean Fever 72
1448 P FLL037 Follicular Lymphoma 71
1449 c HMP029 Hemophilia a 70
1450 P CHR012 Chronic Granulomatous Disease 69
1451 CHR063 Chronic Mucocutaneous Candidiasis 67
1452 c HMP004 Hemophilia B 66
1453 c LKM056 Leukemia, Chronic Lymphocytic 2 66
1454 P LNG028 Long Qt Syndrome 65
1455 P CHR285 Chronic Myelomonocytic Leukemia 65
1456 IMM174 Immunodeficiency with Hyper-Igm, Type 1 63
1457 DPH001 Diphtheria 63
1458 INT066 Interstitial Lung Disease 63
1459 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 63
1460 P PLY014 Polycystic Kidney Disease 63
1461 P ADL010 Adult Respiratory Distress Syndrome 62
1462 c LNG044 Long Qt Syndrome 1 62
1463 P OST001 Osteopetrosis 62
1464 SVR066 Severe Combined Immunodeficiency, X-Linked 62
1465 DGR001 Digeorge Syndrome 62
1466 c ACT210 Acute Respiratory Distress Syndrome 62
1467 P HYP370 Hypokalemic Periodic Paralysis, Type 1 61
1468 c ACT073 Acute Leukemia 61
1469 LGG001 Legg-Calve-Perthes Disease 61
1470 P LYM031 Lymphocytic Leukemia 61
1471 PRT058 Pure Autonomic Failure 61
1472 SPT004 Septic Arthritis 61
1473 RSC001 Rosacea 60
1474 P CND004 Candidiasis 60
1475 P BRL012 Bare Lymphocyte Syndrome, Type Ii 60
1476 ART001 Arterial Tortuosity Syndrome 60
1477 P ANP001 Anaplastic Large Cell Lymphoma 60
1478 CHL028 Childhood Type Dermatomyositis 59
1479 c FML116 Familial Cold Autoinflammatory Syndrome 1 59
1480 c BLD124 Bleeding Disorder, Platelet-Type, 11 59
1481 PST046 Post-Transplant Lymphoproliferative Disease 58
1482 MRG003 Marginal Zone B-Cell Lymphoma 57
1483 PRP036 Peripheral T-Cell Lymphoma 57
1484 PRM042 Primary Effusion Lymphoma 57
1485 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 56
1486 P CNT005 Central Nervous System Lymphoma 56
1487 ERY029 Erythermalgia, Primary 56
1488 PPL049 Papillon-Lefevre Syndrome 55
1489 CTS003 Coats Disease 55
1490 P CTN015 Cutaneous T Cell Lymphoma 55
1491 CHR081 Choroideremia 55
1492 HYP052 Hyperkalemic Periodic Paralysis 54
1493 P FNC043 Fanconi Anemia, Complementation Group E 54
1494 c MLG054 Malignant Histiocytosis 54
1495 c LNG047 Long Qt Syndrome 2 54
1496 P ESN008 Eosinophilic Pneumonia 54
1497 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 54
1498 c ACT020 Acute T Cell Leukemia 54
1499 PLS025 Plasmablastic Lymphoma 54
1500 MNC006 Monoclonal Gammopathy of Uncertain Significance 53
1501 FML026 Familial Lipoprotein Lipase Deficiency 53
1502 P FML052 Familial Cold Autoinflammatory Syndrome 53
1503 P PLY017 Polyarteritis Nodosa 52
1504 P RST002 Restrictive Cardiomyopathy 52
1505 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 52
1506 P RNL007 Renal Tubular Acidosis 52
1507 MYL003 Myeloid Sarcoma 52
1508 c TCL005 T-Cell Prolymphocytic Leukemia 52
1509 ANG046 Angioimmunoblastic T-Cell Lymphoma 52
1510 FML089 Familial Thoracic Aortic Aneurysm and Dissection 51
1511 GYR004 Gyrate Atrophy of Choroid and Retina 51
1512 CLD007 Cold Agglutinin Disease 51
1513 SPR004 Supravalvular Aortic Stenosis 51
1514 SHH001 Sheehan Syndrome 51
1515 LPD004 Lipoid Nephrosis 51
1516 c GLY011 Glycogen Storage Disease Vii 51
1517 CHR001 Churg-Strauss Syndrome 51
1518 HRP009 Herpes Simplex Encephalitis 50
1519 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 50
1520 LYM051 Lymphomatoid Granulomatosis 50
1521 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 50
1522 RCH001 Richter's Syndrome 50
1523 SBC012 Subcorneal Pustular Dermatosis 50
1524 c THR071 Thrombocytopenia 1 50
1525 P KRN004 Kernicterus 50
1526 ERY051 Erythroleukemia, Familial 49
1527 HYP074 Hypersensitivity Vasculitis 49
1528 IRK001 Irak4 Deficiency 49
1529 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 49
1530 IMM102 Immunodeficiency 14 49
1531 URC002 Urea Cycle Disorder 49
1532 c CHR037 Chronic Eosinophilic Pneumonia 49
1533 c HRD039 Hereditary Amyloidosis 49
1534 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 48
1535 ACT200 Acute Monoblastic Leukemia 48
1536 c LKM060 Leukemia, Acute Lymphoblastic 3 48
1537 TCL002 T-Cell Large Granular Lymphocyte Leukemia 47
1538 IMM104 Immunodeficiency with Hyper-Igm, Type 2 47
1539 AMB001 Amebiasis 47
1540 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1541 c LNG048 Long Qt Syndrome 3 47
1542 c GMM003 Gamma Heavy Chain Disease 47
1543 c PSR021 Psoriasis 14, Pustular 47
1544 c HRM017 Hermansky-Pudlak Syndrome 2 46
1545 P PLM085 Pulmonary Hemosiderosis 46
1546 P 8P1002 8p11 Myeloproliferative Syndrome 46
1547 IMM015 Immune Defect Due to Absence of Thymus 46
1548 SML008 Small Intestine Lymphoma 46
1549 ACT113 Acute Myeloblastic Leukemia with Maturation 46
1550 PLM068 Pulmonary Vein Stenosis 46
1551 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 45
1552 c MYL058 Myeloproliferative Syndrome, Transient 45
1553 CLL014 Cll/sll 45
1554 CRT046 Corticosteroid-Binding Globulin Deficiency 45
1555 SPL018 Splenomegaly 45
1556 LYM052 Lymphomatoid Papulosis 45
1557 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 45
1558 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 45
1559 P BCL005 B Cell Prolymphocytic Leukemia 44
1560 c DFN107 Deafness, Autosomal Dominant 10 44
1561 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 44
1562 c ADL052 Adult Acute Lymphocytic Leukemia 44
1563 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
1564 c LNG050 Long Qt Syndrome 5 44
1565 PLS016 Plasma Cell Leukemia 43
1566 GLY015 Glycine N-Methyltransferase Deficiency 43
1567 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 43
1568 CHR276 Chronic Active Epstein-Barr Virus Infection 43
1569 LVD003 Livedoid Vasculitis 42
1570 IMM105 Immunodeficiency with Hyper-Igm, Type 3 42
1571 HPT070 Hepatosplenic T-Cell Lymphoma 42
1572 LNG013 Lung Lymphoma 42
1573 c LNG051 Long Qt Syndrome 6 42
1574 c DFN190 Deafness, Autosomal Dominant 2a 42
1575 c DFN354 Deafness, Autosomal Dominant 20 41
1576 c FML015 Familial Nephrotic Syndrome 41
1577 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 41
1578 c DFN351 Deafness, Autosomal Dominant 6 41
1579 c BRL011 Bare Lymphocyte Syndrome, Type I 41
1580 P THP004 Thiopurines, Poor Metabolism of, 1 41
1581 IMM131 Immunodeficiency with Hyper-Igm, Type 4 41
1582 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 41
1583 c DFN250 Deafness, Autosomal Recessive 2 40
1584 MTH021 Methylmalonic Acidemia with Homocystinuria 40
1585 c CLR085 Colorectal Cancer 1 40
1586 c LNG096 Long Qt Syndrome 15 40
1587 c DFN197 Deafness, Autosomal Recessive 37 40
1588 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 40
1589 c DFN251 Deafness, Autosomal Dominant 11 40
1590 c LNG057 Long Qt Syndrome 13 40
1591 c DFN202 Deafness, Autosomal Dominant 48 40
1592 c LNG053 Long Qt Syndrome 9 40
1593 c FNC046 Fanconi Anemia, Complementation Group P 39
1594 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 39
1595 c DFN097 Deafness, Autosomal Recessive 1a 39
1596 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 38
1597 CHR286 Chronic Neutrophilic Leukemia 38
1598 VRS001 Virus Associated Hemophagocytic Syndrome 38
1599 GRH001 Gorham's Disease 38
1600 TRN030 Transient Erythroblastopenia of Childhood 38
1601 c DFN141 Deafness, Autosomal Recessive 12 38
1602 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 38
1603 c GLY044 Glycogen Storage Disease Ixc 38
1604 c DFN143 Deafness, Autosomal Recessive 16 37
1605 CNT018 Central Nervous System Leukemia 37
1606 HMC038 Hemochromatosis, Neonatal 37
1607 CLN005 Colon Lymphoma 37
1608 c DFN092 Deafness, Autosomal Recessive 49 37
1609 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
1610 c PSD048 Pseudo-Von Willebrand Disease 37
1611 MTR008 Mature B-Cell Neoplasm 36
1612 c GLY016 Glycogen Storage Disease Ib 36
1613 c DFN201 Deafness, Autosomal Recessive 3 36
1614 c NPH070 Nephrotic Syndrome, Type 6 36
1615 c DFN120 Deafness, Autosomal Recessive 39 36
1616 c DFN124 Deafness, Autosomal Recessive 6 36
1617 c PRM038 Primary Agammaglobulinemia 36
1618 c DFN137 Deafness, Autosomal Dominant 13 35
1619 c LNG056 Long Qt Syndrome 12 35
1620 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 35
1621 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
1622 c DFN094 Deafness, Autosomal Dominant 28 34
1623 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 34
1624 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
1625 P BNL002 Bone Lymphoma 34
1626 c DFN189 Deafness, Autosomal Dominant 25 34
1627 IMM064 Immunodeficiency, Common Variable, 10 34
1628 BCL008 B-Cell Childhood Acute Lymphoblastic Leukemia 34
1629 LNG004 Langerhans Cell Sarcoma 34
1630 c DFN093 Deafness, Autosomal Recessive 23 34
1631 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
1632 c DFN249 Deafness, Autosomal Recessive 93 33
1633 c DFN130 Deafness, Autosomal Recessive 21 33
1634 c ACR091 Aicardi-Goutieres Syndrome 4 33
1635 c ACR092 Aicardi-Goutieres Syndrome 5 33
1636 c DFN133 Deafness, Autosomal Recessive 9 33
1637 c DFN121 Deafness, Autosomal Recessive 28 33
1638 BLD028 Bladder Lymphoma 33
1639 GRY001 Gray Zone Lymphoma 33
1640 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 33
1641 NLL001 Null-Cell Leukemia 32
1642 c DFN128 Deafness, Autosomal Dominant 36 32
1643 c THR037 Thrombocytopenia 2 32
1644 RFM001 Roifman Syndrome 32
1645 ACT114 Acute Myeloblastic Leukemia Without Maturation 32
1646 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 32
1647 c ACR090 Aicardi-Goutieres Syndrome 2 32
1648 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1649 c DYS039 Dyskeratosis Congenita Autosomal Dominant 32
1650 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
1651 c DFN123 Deafness, Autosomal Recessive 79 31
1652 IMM166 Immunodeficiency 27a 31
1653 c DFN352 Deafness, Autosomal Recessive 8 31
1654 c DFN029 Deafness, Autosomal Recessive 51 31
1655 c LKM005 Leukemia, T-Cell, Chronic 30
1656 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 30
1657 c ALP087 Alpha-Heavy Chain Disease 30
1658 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1659 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
1660 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30
1661 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
1662 c DFN139 Deafness, Autosomal Recessive 29 30
1663 c DYS040 Dyskeratosis Congenita Autosomal Recessive 30
1664 c DFN258 Deafness, Autosomal Recessive 48 29
1665 c DFN244 Deafness, Autosomal Recessive 42 29
1666 c DFN127 Deafness, Autosomal Recessive 7 29
1667 IMM080 Immunodeficiency 23 29
1668 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1669 c NPH072 Nephrotic Syndrome, Type 7 29
1670 c DFN098 Deafness, Autosomal Dominant 3a 29
1671 c FML253 Familial Cold Autoinflammatory Syndrome 3 29
1672 c DFN159 Deafness, Autosomal Dominant 5 29
1673 GRN032 Granulomatous Slack Skin Disease 29
1674 c GLY097 Glycogen Storage Disease Ixb 29
1675 c DFN262 Deafness, Autosomal Recessive 15 28
1676 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 28
1677 c GLY009 Glycogen Storage Disease Xv 28
1678 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 28
1679 c DFN178 Deafness, Autosomal Recessive 59 27
1680 c DFN253 Deafness, Autosomal Recessive 84a 27
1681 CNG016 Congenital Intrinsic Factor Deficiency 27
1682 c MYH004 Myh9 Related Thrombocytopenia 27
1683 c LNG098 Long Qt Syndrome 14 27
1684 IMM065 Immunodeficiency 10 27
1685 c DFN108 Deafness, Autosomal Recessive 77 26
1686 IMM100 Immunoglobulin Kappa Light Chain Deficiency 26
1687 UNC014 Unicentric Castleman Disease 26
1688 c OST125 Osteopetrosis, Autosomal Dominant 1 26
1689 c DFN112 Deafness, Autosomal Recessive 63 26
1690 P BLD120 Bleeding Disorder, Platelet-Type, 8 26
1691 CTN027 Cutaneous Mastocytoma 26
1692 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 26
1693 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 26
1694 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 26
1695 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 26
1696 c DFN170 Deafness, Autosomal Recessive 31 26
1697 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 25
1698 c DFN138 Deafness, Autosomal Recessive 53 25
1699 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 25
1700 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 25
1701 ESN023 Eosinophilia, Familial 25
1702 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 25
1703 c CLR077 Colorectal Cancer 10 24
1704 c DFN103 Deafness, Autosomal Recessive 1b 24
1705 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
1706 c DFN247 Deafness, Autosomal Recessive 18a 24
1707 c SYS066 Systemic Polyarteritis Nodosa 24
1708 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
1709 IMM178 Immunodeficiency 31b 23
1710 IMM066 Immunodeficiency 9 23
1711 c DFN177 Deafness, Autosomal Recessive 5 23
1712 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 23
1713 IMM176 Immunodeficiency with Hyper-Igm, Type 5 23
1714 c CLR075 Colorectal Cancer 3 23
1715 WRM004 Warm Antibody Hemolytic Anemia 22
1716 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 22
1717 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
1718 c CLR087 Colorectal Cancer 12 22
1719 IMM074 Immunodeficiency 16 22
1720 IMM096 Immunodeficiency 30 22
1721 IMM191 Immunodeficiency 56 22
1722 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
1723 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 22
1724 c BNM011 Bone Marrow Failure Syndrome 2 22
1725 SLC003 Selective Igm Deficiency Disease 22
1726 c DFN267 Deafness, Autosomal Dominant 4a 21
1727 IMM099 Immunodeficiency 33 21
1728 c LNG045 Long Qt Syndrome 10 21
1729 SPC022 Specific Antibody Deficiency 21
1730 c DFN255 Deafness, Autosomal Dominant 64 21
1731 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 21
1732 c CRD176 Cardiomyopathy, Familial Restrictive, 1 20
1733 c DFN132 Deafness, Autosomal Recessive 22 20
1734 c DFN188 Deafness, Autosomal Recessive 61 20
1735 SBL003 Subleukemic Leukemia 20
1736 c PRM151 Primary Bone Lymphoma 20
1737 TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 20
1738 c DFN030 Deafness, Autosomal Recessive 55 19
1739 c PLY141 Polycystic Kidney Disease 5 19
1740 c DFN135 Deafness, Autosomal Recessive 91 19
1741 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1742 c DFN102 Deafness, Autosomal Dominant 3b 18
1743 IMM130 Immunoneurologic Disorder, X-Linked 18
1744 c LNG046 Long Qt Syndrome 11 18
1745 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1746 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 17
1747 IMM172 Immunodeficiency 34 17
1748 MLY011 Maleylacetoacetate Isomerase Deficiency 17
1749 c TCL008 T-Cell Lymphoma 1a 16
1750 ERY007 Erythropoietin Polycythemia 16
1751 c CRD098 Cardiomyopathy, Familial Restrictive, 3 16
1752 LCH010 Lichtenstein Syndrome 16
1753 c RNL117 Renal Tubular Acidosis Iii 15
1754 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
1755 LNP001 Loin Pain Hematuria Syndrome 15
1756 c THP005 Thiopurines, Poor Metabolism of, 2 14
1757 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 14
1758 c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 14
1759 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
1760 c LKM052 Leukemia, Chronic Lymphocytic 5 13
1761 c LKM053 Leukemia, Chronic Lymphocytic 4 13
1762 c ANP011 Anaplastic Small Cell Lymphoma 12
1763 ISL032 Isolated Bone Marrow Mastocytosis 12
1764 c LKM050 Leukemia, Chronic Lymphocytic 1 12
1765 c LKM051 Leukemia, Chronic Lymphocytic 3 12
1766 c LKM055 Leukemia, Acute Lymphoblastic 2 12
1767 c PRM222 Primary Polyarteritis Nodosa 12
1768 PNC007 Pancreas Lymphoma 11
1769 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 11
1770 NTR010 Neutropenia Monocytopenia Deafness 11
1771 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 11
1772 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 11
1773 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
1774 c CRD057 Cardiomyopathy, Familial Restrictive, 2 10
1775 c SCN047 Secondary Pulmonary Hemosiderosis 10
1776 c SCN055 Secondary Polyarteritis Nodosa 8
1777 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 8
1778 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 8
1779 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
1780 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
1781 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 7
1782 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
1783 MYL066 Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement 6
1784 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 6
1785 c FML158 Familial Hemangioma 6
1786 CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 6
1787 CNG172 Congenital Vascular Cavernous Malformations 5
1788 VSC022 Vascular Erectile Tumor 5
1789 PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5
1790 c LKM071 Leukemia, Chronic Lymphocytic 77
1791 P PHC003 Pheochromocytoma 72
1792 c MLG157 Malignant Pheochromocytoma 34
1793 P EXD001 Exudative Vitreoretinopathy 51
1794 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 22
1795 GST053 Gastric Cancer 79
1796 LYM133 Lymphoma, Hodgkin, Classic 75
1797 PLM134 Pulmonary Fibrosis, Idiopathic 74
1798 c PLM164 Pulmonary Hypertension, Primary, 1 74
1799 CHD001 Chediak-Higashi Syndrome 68
1800 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 65
1801 HYP780 Hypoadrenocorticism, Familial 63
1802 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 60
1803 HRY003 Hairy Cell Leukemia 60
1804 P HYP061 Hypertrophic Cardiomyopathy 58
1805 BNM001 Bone Marrow Cancer 52
1806 LRG008 Large Granular Lymphocyte Leukemia 50
1807 BLS007 Blastic Plasmacytoid Dendritic Cell 46
1808 HST006 Histidinemia 45
1809 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
1810 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 36
1811 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 34
1812 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 32
1813 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 32
1814 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
1815 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 27
1816 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 23
1817 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 22
1818 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 22
1819 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 21
1820 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
1821 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 21
1822 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 21
1823 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 20
1824 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 20
1825 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 19
1826 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 19
1827 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 19
1828 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 19
1829 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 19
1830 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 18
1831 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 17
1832 c CRD168 Cardiomyopathy, Familial Hypertrophic, 19 17
1833 P FML048 Familial Avascular Necrosis of the Femoral Head 17
1834 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
1835 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8
1836 P CLC063 Celiac Disease 1 74
1837 P MYC084 Mycobacterium Tuberculosis 1 74
1838 MLT157 Multiple System Atrophy 1 74
1839 MYC006 Mycosis Fungoides 73
1840 P NJM001 Nijmegen Breakage Syndrome 73
1841 c EXD008 Exudative Vitreoretinopathy 1 72
1842 CMM004 Common Variable Immunodeficiency 71
1843 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 70
1844 WLS001 Wilson Disease 70
1845 LYM007 Lymphangioleiomyomatosis 68
1846 P MYL006 Myeloid Leukemia 67
1847 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 67
1848 SZR001 Sezary's Disease 67
1849 ABT001 Abetalipoproteinemia 67
1850 CNT097 Central Hypoventilation Syndrome, Congenital 66
1851 P BCL006 B-Cell Lymphomas 65
1852 PRD013 Periodic Fever, Familial, Autosomal Dominant 65
1853 STF001 Stiff-Person Syndrome 65
1854 P HRM001 Hermansky-Pudlak Syndrome 64
1855 P PLY011 Polycystic Ovary Syndrome 64
1856 PMS001 Poems Syndrome 64
1857 BLM001 Bloom Syndrome 64
1858 P VNW001 Von Willebrand's Disease 63
1859 CNC002 Cinca Syndrome 62
1860 P PTN014 Patent Ductus Arteriosus 1 61
1861 RTH001 Rothmund-Thomson Syndrome 60
1862 FRC011 Fructose Intolerance, Hereditary 60
1863 P LYM033 Lymphoproliferative Syndrome 59
1864 P OCL002 Oculocutaneous Albinism 58
1865 GLB001 Gilbert Syndrome 58
1866 c SVR003 Severe Congenital Neutropenia 58
1867 c HYP731 Hyperaldosteronism, Familial, Type I 58
1868 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 57
1869 LYM040 Lymphoblastic Lymphoma 57
1870 c ALB021 Albinism, Oculocutaneous, Type Ii 57
1871 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 57
1872 DFF005 Diffuse Large B-Cell Lymphoma 56
1873 WHM001 Whim Syndrome 54
1874 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
1875 P LFT003 Left Ventricular Noncompaction 53
1876 c ALB009 Albinism, Oculocutaneous, Type Ia 53
1877 ACT103 Acute Lymphoblastic Leukemia, Childhood 53
1878 P ERY008 Erythromelalgia 53
1879 c OST131 Osteopetrosis, Autosomal Dominant 2 53
1880 PRN001 Purine Nucleoside Phosphorylase Deficiency 52
1881 c HMN021 Human T-Cell Leukemia Virus Type 1 52
1882 c PRM226 Primary Central Nervous System Lymphoma 52
1883 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
1884 HNC001 Henoch-Schoenlein Purpura 51
1885 EPD001 Epidermodysplasia Verruciformis 51
1886 GLY014 Glycerol Kinase Deficiency 51
1887 SCH016 Schimke Immunoosseous Dysplasia 50
1888 c ALB010 Albinism, Oculocutaneous, Type Ib 49
1889 ENC055 Encephalopathy, Ethylmalonic 48
1890 BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 48
1891 LGH004 Light Chain Deposition Disease 47
1892 RYN003 Reynolds Syndrome 47
1893 c LYM107 Lymphoproliferative Syndrome 2 47
1894 VCS001 Vici Syndrome 47
1895 c OST129 Osteopetrosis, Autosomal Recessive 2 47
1896 FML075 Familial Isolated Hyperparathyroidism 46
1897 c ACQ017 Acquired Von Willebrand Syndrome 46
1898 GLT007 Glutathione Synthetase Deficiency 45
1899 CSP005 Caspase 8 Deficiency 45
1900 c PLY105 Polycystic Ovary Syndrome 1 45
1901 c OST136 Osteopetrosis, Autosomal Recessive 7 44
1902 NTR003 Natural Killer Cell Leukemia 41
1903 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 41
1904 TTR005 Tetrahydrobiopterin Deficiency 41
1905 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 41
1906 c HMN022 Human T-Cell Leukemia Virus Type 2 40
1907 c DFN196 Deafness, Autosomal Dominant 22 40
1908 ENT008 Enteropathy-Associated T-Cell Lymphoma 39
1909 LYM042 Lymphocytic Colitis 39
1910 IMM078 Immunodeficiency 21 39
1911 c LKM004 Leukemia, B-Cell, Chronic 37
1912 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 37
1913 c GRS012 Griscelli Syndrome, Type 3 37
1914 P FML156 Familial Hyperaldosteronism 37
1915 GST020 Gastric Antral Vascular Ectasia 37
1916 c ACR088 Aicardi-Goutieres Syndrome 3 36
1917 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 35
1918 c DFN131 Deafness, Autosomal Dominant 1 35
1919 c OST134 Osteopetrosis, Autosomal Recessive 6 35
1920 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
1921 MJD001 Majeed Syndrome 34
1922 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 33
1923 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
1924 c HYP600 Hyperaldosteronism, Familial, Type Ii 31
1925 P SNG014 Singleton-Merten Syndrome 31
1926 c LYM106 Lymphoproliferative Syndrome 1 31
1927 LYM094 Lymphedema, Primary, with Myelodysplasia 31
1928 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 30
1929 IMM179 Immunodeficiency 31c 30
1930 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
1931 DLF001 Dieulafoy Lesion 28
1932 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 28
1933 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
1934 c BNM010 Bone Marrow Failure Syndrome 1 27
1935 c OST137 Osteopetrosis, Autosomal Recessive 4 27
1936 c DFN357 Deafness, Autosomal Recessive 47 26
1937 c ALB017 Albinism, Oculocutaneous, Type Vi 26
1938 SPN026 Spinal Cord Lymphoma 25
1939 IMM177 Immunodeficiency 54 23
1940 c LFT017 Left Ventricular Noncompaction 8 21
1941 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
1942 c CND037 Candidiasis, Familial, 6 19
1943 c LFT018 Left Ventricular Noncompaction 10 19
1944 P FML056 Familial Deafness 17
1945 c CLC037 Celiac Disease 4 15
1946 c CLC039 Celiac Disease 13 15
1947 c CLC048 Celiac Disease 3 15
1948 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1949 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1950 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
1951 c MYC055 Mycobacterium Tuberculosis 3 12
1952 c HMN023 Human T-Cell Leukemia Virus Type 3 11
1953 c MYC054 Mycobacterium Tuberculosis 2 9
1954 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 9
1955 c SCN010 Scn9a-Related Inherited Erythromelalgia 6
1956 OMN001 Omenn Syndrome 67
1957 P HMP007 Hemophilia 61
1958 c GLY060 Glycogen Storage Disease Ia 61
1959 P JVN014 Juvenile Polyposis Syndrome 60
1960 c ALM001 Al Amyloidosis 60
1961 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
1962 CHR003 Cherubism 57
1963 c GLY004 Glycogen Storage Disease V 55
1964 HYD012 Hydrops Fetalis 52
1965 P TRC086 Trichohepatoenteric Syndrome 1 51
1966 c GLY005 Glycogen Storage Disease Vi 49
1967 PST048 Postural Orthostatic Tachycardia Syndrome 46
1968 c GRS013 Griscelli Syndrome, Type 1 46
1969 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 41
1970 c CND034 Candidiasis, Familial, 2 36
1971 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 36
1972 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
1973 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
1974 c GLY059 Glycogen Storage Disease Xiii 23
1975 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
1976 c JVN034 Juvenile Polyposis of Infancy 22
1977 c NTR045 Neutropenia, Chronic Familial 21
1978 c BNM013 Bone Marrow Failure Syndrome 3 21
1979 c GLY006 Glycogen Storage Disease Viii 20
1980 c BNM032 Bone Marrow Failure Syndrome 4 16
1981 c BNM033 Bone Marrow Failure Syndrome 5 11
1982 ACR006 Aceruloplasminemia 70
1983 P HYP802 Hypocalcemia, Autosomal Dominant 1 67
1984 MSM014 Mismatch Repair Cancer Syndrome 63
1985 MCK007 Muckle-Wells Syndrome 62
1986 P ACR001 Aicardi-Goutieres Syndrome 61
1987 c HRM005 Hermansky-Pudlak Syndrome 1 53
1988 c HRM006 Hermansky-Pudlak Syndrome 3 51
1989 c HRM008 Hermansky-Pudlak Syndrome 5 50
1990 c HRM009 Hermansky-Pudlak Syndrome 6 44
1991 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 42
1992 c HRM007 Hermansky-Pudlak Syndrome 4 36
1993 c HYP564 Hypocalcemia, Autosomal Dominant 2 20
1994 c GLY003 Glycogen Storage Disease Iii 59
1995 P INH011 Inherited Bone Marrow Failure Syndromes 34
1996 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 18
1997 c BLD132 Bleeding Disorder, Platelet-Type, 21 20
1998 c GLY007 Glycogen Storage Disease Iv 53



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