Blood Diseases Category (1477 diseases)


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

# Family MCID Name MIFTS
1 GLN010 Glanzmann Thrombasthenia 65
2 c BTT014 Beta-Thalassemia 69
3 P BRN019 Bernard-Soulier Syndrome 59
4 GRY002 Gray Platelet Syndrome 55
5 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34
6 P ESS003 Essential Thrombocythemia 70
7 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 48
8 THR100 Thrombocytopenic Purpura, Autoimmune 62
9 c THR071 Thrombocytopenia 1 51
10 PRT012 Prothrombin Deficiency 45
11 c PRT045 Prothrombin-Related Thrombophilia 13
12 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 55
13 c ALP101 Alpha-Thalassemia 59
14 HRD083 Hereditary Antithrombin Deficiency 24
15 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
16 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 32
17 P THR005 Thrombotic Thrombocytopenic Purpura 63
18 P SCK034 Sickle Beta Thalassemia 30
19 SCT005 Scott Syndrome 48
20 GHS005 Ghosal Hematodiaphyseal Dysplasia 28
21 THR009 Thrombocytopenia-Absent Radius Syndrome 58
22 BLD053 Blood Platelet Disease 55
23 P HMG032 Hemoglobin H Disease 52
24 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
25 HMT002 Hematologic Cancer 63
26 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 52
27 P THL005 Thalassemia 64
28 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 59
29 STR081 Stormorken Syndrome 48
30 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 46
31 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 36
32 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 20
33 SCK003 Sickle Cell Anemia 72
34 ANT009 Antithrombin Iii Deficiency 57
35 QBC001 Quebec Platelet Disorder 43
36 FCT013 Factor V Leiden Thrombophilia 16
37 c THR092 Thrombophilia Due to Thrombin Defect 67
38 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 34
39 c BLD152 Bleeding Disorder, Platelet-Type, 16 34
40 c BLD123 Bleeding Disorder, Platelet-Type, 13 20
41 c MYH004 Myh9 Related Thrombocytopenia 23
42 PRT129 Prothrombin Deficiency, Congenital 49
43 HMN035 Hemangioma-Thrombocytopenia Syndrome 38
44 PSD048 Pseudo-Von Willebrand Disease 33
45 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 26
46 c BLD125 Bleeding Disorder, Platelet-Type, 17 24
47 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 23
48 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 22
49 PRT011 Protein C Deficiency 49
50 c THR037 Thrombocytopenia 2 28
51 ALP013 Alpha-Thalassemia Myelodysplasia Syndrome 24
52 c BLD121 Bleeding Disorder, Platelet-Type, 15 20
53 P BLD120 Bleeding Disorder, Platelet-Type, 8 31
54 c BLD154 Bleeding Disorder, Platelet-Type, 12 20
55 HRD163 Hereditary Antithrombin Deficiency Type 2 9
56 HRD164 Hereditary Antithrombin Deficiency Type I 7
57 HPR003 Heparin-Induced Thrombocytopenia 48
58 c BLD124 Bleeding Disorder, Platelet-Type, 11 37
59 PLT004 Platelet Glycoprotein Iv Deficiency 30
60 THR101 Thrombocytopenia, Paris-Trousseau Type 25
61 c THR102 Thrombocytopenia 5 23
62 STR089 Storage Pool Platelet Disease 46
63 c THR090 Thrombocythemia 1 36
64 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 24
65 PRX008 Paroxysmal Cold Hemoglobinuria 30
66 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 22
67 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 21
68 c BLD133 Bleeding Disorder, Platelet-Type, 20 19
69 SCK020 Sickle Cell - Hemoglobin D Disease 14
70 THR016 Thrombophlebitis 52
71 c BLD127 Bleeding Disorder, Platelet-Type, 19 19
72 P WSK001 Wiskott-Aldrich Syndrome 77
73 P HML033 Hemolytic Uremic Syndrome, Atypical 1 56
74 c THR082 Thrombophilia Due to Activated Protein C Resistance 46
75 INT078 Intracranial Thrombosis 37
76 c WSK002 Wiskott-Aldrich Syndrome 2 27
77 c HML034 Hemolytic Uremic Syndrome, Atypical 3 22
78 c HML037 Hemolytic Uremic Syndrome, Atypical 5 22
79 c HML032 Hemolytic Uremic Syndrome, Atypical 4 22
80 c HML036 Hemolytic Uremic Syndrome, Atypical 6 22
81 c HML035 Hemolytic Uremic Syndrome, Atypical 2 22
82 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 17
83 BLD141 Blood Group--Kell System 14
84 P THR014 Thrombocytopenia 64
85 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 19
86 THR039 Thrombocytopenia Robin Sequence 12
87 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 5
88 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 22
89 c THR110 Thrombocytopenia 6 21
90 HMG005 Hemoglobinopathy 53
91 c THR111 Thrombocytopenia 3 32
92 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 22
93 WTL002 Wt Limb-Blood Syndrome 20
94 c BLD126 Bleeding Disorder, Platelet-Type, 18 18
95 c THR048 Thrombocytopenia 4 17
96 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 16
97 BLD160 Blood Group, John Milton Hagen System 10
98 THR024 Thrombosis 61
99 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 33
100 THR116 Thrombocytopenia, Cyclic 20
101 c BLD157 Bleeding Disorder, Platelet-Type, 9 19
102 BLD146 Blood Group, P1pk System 16
103 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 12
104 THR004 Thrombocytosis 54
105 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 32
106 c THR086 Thrombocythemia 3 21
107 c BLD156 Bleeding Disorder, Platelet-Type, 14 21
108 HLL004 Hellp Syndrome 52
109 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 21
110 BLD167 Blood Group, Kidd System 14
111 CNT010 Central Nervous System Hematologic Cancer 9
112 SCK005 Sickle Cell Disease 54
113 CYC010 Cyclic Neutropenia 51
114 P BLD051 Blood Coagulation Disease 50
115 CHR466 Chronic Thromboembolic Pulmonary Hypertension 43
116 c HMG001 Hemoglobin C Disease 39
117 SGT001 Sagittal Sinus Thrombosis 34
118 c HMG003 Hemoglobin E Disease 34
119 CVR002 Cavernous Sinus Thrombosis 29
120 HPR006 Heparin Cofactor Ii Deficiency 29
121 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 23
122 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 22
123 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 21
124 c BLD132 Bleeding Disorder, Platelet-Type, 21 18
125 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 16
126 FMR001 Femoral Vein Thrombophlebitis 13
127 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 12
128 PRM053 Primary Release Disorder of Platelets 11
129 RPH001 Raph Blood Group System 10
130 WHT007 White Platelet Syndrome 10
131 c HMT007 Hematocrit/hemoglobin Quantitative Trait Locus 3 7
132 P HMT005 Hematocrit/hemoglobin Quantitative Trait Locus 1 6
133 c HMT006 Hematocrit/hemoglobin Quantitative Trait Locus 2 6
134 MCR041 Macrothrombocytopenia Progressive Deafness 5
135 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
136 c SCP001 Sc Phocomelia Syndrome 39
137 BLD165 Blood Group, Colton System 23
138 c DKP001 Dk Phocomelia Syndrome 22
139 P PHC014 Phocomelia 20
140 c THR087 Thrombocythemia 2 16
141 c THR023 Thrombophilia Due to Thrombomodulin Defect 16
142 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 16
143 c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 15
144 PRT018 Portal Vein Thrombosis 50
145 BLC004 Blackwater Fever 34
146 c BLD140 Blood Group, I System 23
147 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 20
148 BLD155 Blood Group, Cromer System 18
149 PRN017 Perianal Hematoma 17
150 BLD159 Blood Group, Junior System 16
151 BLD162 Blood Group, Vel System 13
152 BLD166 Blood Group, Diego System 12
153 BLD158 Blood Group, Chido/rodgers System 8
154 HMG002 Hemoglobinuria 52
155 P HML001 Hemolytic-Uremic Syndrome 50
156 CRN017 Coronary Thrombosis 47
157 PRT014 Protein S Deficiency 47
158 QLT001 Qualitative Platelet Defect 31
159 HMG010 Hemoglobinemia 30
160 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 28
161 LTR002 Lateral Sinus Thrombosis 27
162 BLD054 Blood Protein Disease 25
163 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 24
164 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 22
165 HMT001 Hematocele of Tunica Vaginalis Testis 18
166 SYS059 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 18
167 THR121 Thrombocythemia with Distal Limb Defects 7
168 THR043 Thrombomodulin Anomalies, Familial 7
169 MNP015 Mean Platelet Volume Quantitative Trait Locus 2 6
170 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
171 HMT018 Hematopoietic Stem Cell Transplantation 57
172 PST095 Post-Thrombotic Syndrome 52
173 ASP030 Aspirin Resistance 43
174 RFR004 Refractory Hematologic Cancer 29
175 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 23
176 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 20
177 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
178 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 13
179 HMG031 Hemoglobin, High Altitude Adaptation 11
180 c HYP595 Hypertension, Essential 76
181 FCT006 Factor V Deficiency 53
182 c MLG069 Malignant Hypertension 48
183 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 46
184 P FML187 Familial Hypertension 31
185 c MLG039 Malignant Essential Hypertension 27
186 STC016 Sticky Platelet Syndrome 27
187 c BNG021 Benign Essential Hypertension 27
188 BLD161 Blood Group, Globoside System 24
189 c MLG080 Malignant Secondary Hypertension 24
190 BLD163 Blood Group, Dombrock System 22
191 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 22
192 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 18
193 BLD164 Blood Group, Gerbich System 18
194 RDN004 Radin Blood Group Antigen 15
195 BLD151 Blood Group--Wright Antigen 15
196 THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 15
197 BLD148 Blood Group, Langereis System 12
198 c HYP452 Hypertension, Essential 6 11
199 c HYP449 Hypertension, Essential 3 11
200 c HYP450 Hypertension, Essential 4 11
201 c HYP451 Hypertension, Essential 5 10
202 BLD144 Blood Group System, Landsteiner-Wiener 10
203 c HYP447 Hypertension, Essential 1 10
204 c HYP448 Hypertension, Essential 2 10
205 c HYP453 Hypertension, Essential 7 10
206 c HYP454 Hypertension, Essential 8 10
207 c BNG034 Benign Secondary Hypertension 7
208 P THR015 Thrombophilia 57
209 THR035 Thrombasthenia 45
210 c INH004 Inherited Blood Coagulation Disease 41
211 PLT015 Platelet Aggregation, Spontaneous 40
212 c ACQ005 Acquired Thrombocytopenia 32
213 c HMG004 Hemoglobin D Disease 23
214 INT076 Intracranial Sinus Thrombosis 22
215 PLT035 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 15
216 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
217 MND006 Mondor Disease 15
218 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 14
219 ACQ051 Acquired Prothrombin Deficiency 13
220 PRM285 Primitive Portal Vein Thrombosis 12
221 THR098 Thrombocythemia, X-Linked 12
222 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
223 FCT024 Factor V Excess with Spontaneous Thrombosis 10
224 ILC001 Iliac Vein Thrombophlebitis 9
225 INH014 Inherited Predisposition to Essential Thrombocythemia 8
226 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 6
227 CYT021 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 6
228 MNP014 Mean Platelet Volume Quantitative Trait Locus 1 6
229 MNP016 Mean Platelet Volume Quantitative Trait Locus 3 6
230 MNP019 Mean Platelet Volume Quantitative Trait Locus 4 6
231 MNP020 Mean Platelet Volume Quantitative Trait Locus 5 6
232 MNP021 Mean Platelet Volume Quantitative Trait Locus 6 6
233 HMG024 Hemoglobinopathy Toms River 6
234 BLD143 Blood Group--Lke 5
235 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 5
236 MDC003 Medich Giant Platelet Syndrome 5
237 c SCK008 Sickle Delta Beta Thalassemia 3
238 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
239 THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2
240 P HYP014 Hyperuricemia 55
241 c HRM005 Hermansky-Pudlak Syndrome 1 46
242 c HRM008 Hermansky-Pudlak Syndrome 5 41
243 c HRM020 Hermansky-Pudlak Syndrome 10 29
244 c HRM007 Hermansky-Pudlak Syndrome 4 27
245 HMM001 Hemometra 17
246 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 15
247 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 13
248 c HRD048 Hereditary Hyperuricemia 8
249 c HRM006 Hermansky-Pudlak Syndrome 3 46
250 MRN001 Marantic Endocarditis 37
251 c HRM009 Hermansky-Pudlak Syndrome 6 33
252 c HRM011 Hermansky-Pudlak Syndrome 8 32
253 c HRM012 Hermansky-Pudlak Syndrome 9 32
254 ATM012 Autoimmune Disease of Blood 31
255 c HRM010 Hermansky-Pudlak Syndrome 7 28
256 THR007 Thrombophlebitis Migrans 18
257 BLD153 Blood Group--Swann System 12
258 P MTH007 Methemoglobinemia 47
259 CRT004 Carotid Artery Thrombosis 38
260 c PRM225 Primary Thrombocytopenia 37
261 CRB132 Cerebral Sinovenous Thrombosis 33
262 c CNG223 Congenital Methemoglobinemia 30
263 SMH001 Sm-Ahnmd 29
264 PLT031 Platelet Membrane Fluidity 29
265 c ACQ047 Acquired Methemoglobinemia 27
266 P ATS208 Autosomal Dominant Macrothrombocytopenia 27
267 BLD052 Blood Group Incompatibility 26
268 FRS010 Forsythe-Wakeling Syndrome 19
269 TFR002 Tafro Syndrome 19
270 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
271 VNS012 Venous Thoracic Outlet Syndrome 17
272 PLS032 Plasmodium Falciparum Blood Infection Level 17
273 BLD137 Blood Group--Ahonen 17
274 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
275 PLT016 Platelet Adenylate Cyclase Activity 15
276 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
277 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13
278 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
279 PLT028 Platelet Factor 3 Deficiency 12
280 TRN013 Transient Neonatal Thrombocytopenia 11
281 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
282 PLT034 Platelet Prostacyclin Receptor Defect 9
283 PLT027 Platelet Disorder, Undefined 9
284 PLS033 Plasma Clot Retraction Factor, Deficiency of 9
285 PLT033 Platelet Signal Processing Defect 9
286 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 9
287 c MTH084 Methemoglobinemia, Alpha Type 9
288 ATH014 Athrombia, Essential 8
289 ACH007 Achenbach Syndrome 8
290 P BLD150 Blood Group--Ul System 8
291 c MTH083 Methemoglobinemia, Beta Type 8
292 WHT020 White Blood Cell Count Quantitative Trait Locus 1 8
293 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
294 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
295 HMG030 Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain 7
296 YTB001 Yt Blood Group Antigen 7
297 P PLT029 Platelet Groups--Ko System 7
298 THL019 Thalassemia, Beta+, Silent Allele 7
299 UNS001 Unstable Hemoglobin Disease 6
300 THR115 Thrombocyte B 5
301 BLD145 Blood Group--Newfoundland 4
302 BLD147 Blood Group--Private Systems 4
303 HMT020 Hematopoietic Stem Cell Kinetics, Control of 4
304 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4
305 BLD135 Blood Group--Abo Suppressor 3
306 BLD136 Blood Group--Abh Antigen, Type 2 3
307 BLD139 Blood Group--En 3
308 c PLT030 Platelet Groups--Pl System 3
309 SCK036 Sickle Cell Disease Associated with an Other Hemoglobin Anomaly 3
310 KPS004 Kaposi Sarcoma 73
311 P GRF003 Graft-Versus-Host Disease 71
312 P AGM001 Agammaglobulinemia 69
313 P AMY004 Amyloidosis 68
314 P PRD008 Periodontitis 66
315 P HYP098 Hypereosinophilic Syndrome 65
316 P CNG411 Congenital Disorder of Glycosylation, Type in 62
317 P HML002 Hemolytic Anemia 62
318 PRP030 Purpura 61
319 DFC004 Deficiency Anemia 61
320 P NTR004 Neutropenia 60
321 P HMP007 Hemophilia 60
322 P HMR003 Hemorrhagic Disease 60
323 P HST010 Histiocytosis 59
324 c ANM038 Anemia, Autoimmune Hemolytic 59
325 P PLY018 Polycythemia 58
326 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 58
327 c SVR003 Severe Congenital Neutropenia 58
328 HYP810 Hypereosinophilic Syndrome, Idiopathic 58
329 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57
330 c ALM001 Al Amyloidosis 57
331 DSS009 Disseminated Intravascular Coagulation 55
332 IRN001 Iron Deficiency Anemia 55
333 c AMY009 Amyloidosis Aa 53
334 c PRM012 Primary Polycythemia 52
335 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
336 LG4001 Lig4 Syndrome 52
337 PNC001 Pancytopenia 51
338 c MLG054 Malignant Histiocytosis 50
339 HNN001 Hennekam Syndrome 50
340 EXT010 Extramedullary Plasmacytoma 49
341 P PLM006 Pulmonary Alveolar Proteinosis 49
342 HYP063 Hypersplenism 49
343 c PRD040 Periodontitis, Chronic 49
344 c FNC042 Fanconi Anemia, Complementation Group D2 49
345 RFR010 Refractory Anemia 49
346 CVR006 Cavernous Hemangioma 49
347 P KRN004 Kernicterus 48
348 c HRD039 Hereditary Amyloidosis 48
349 PLM035 Pulmonary Eosinophilia 48
350 c SVR056 Severe Hemophilia a 47
351 VNW005 Von Willebrand Disease, Type 1 46
352 TRN022 Transcobalamin Ii Deficiency 46
353 LKC003 Leukocyte Disease 46
354 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
355 c CNG027 Congenital Hemolytic Anemia 46
356 c SPH013 Spherocytosis, Type 1 46
357 ESN002 Eosinophilia-Myalgia Syndrome 45
358 P PRP034 Purpura Fulminans 45
359 VNW008 Von Willebrand Disease, Type 3 45
360 MCR017 Macrocytic Anemia 45
361 P FNC044 Fanconi Anemia, Complementation Group C 45
362 VNW010 Von Willebrand Disease, Type 2 45
363 c ACQ042 Acquired Hemophilia a 43
364 P ANL018 Analbuminemia 43
365 P SDR003 Sideroblastic Anemia 43
366 MCR018 Microcytic Anemia 43
367 ANM001 Anemia of Prematurity 42
368 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
369 c FNC032 Fanconi Anemia, Complementation Group B 41
370 P CNG003 Congenital Dyserythropoietic Anemia 41
371 IND002 Indolent Systemic Mastocytosis 41
372 P HVY001 Heavy Chain Disease 40
373 URT008 Urticaria Pigmentosa 40
374 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 40
375 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
376 c ACQ010 Acquired Polycythemia 39
377 LKS001 Leukostasis 39
378 LTT002 Letterer-Siwe Disease 39
379 c SPH014 Spherocytosis, Type 2 39
380 NTR018 Neutrophilia, Hereditary 39
381 ESN017 Eosinophilic Granuloma 38
382 c SPH016 Spherocytosis, Type 4 37
383 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 36
384 P TRN016 Transient Hypogammaglobulinemia 36
385 GLY032 Glycosylphosphatidylinositol Deficiency 36
386 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
387 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 36
388 c FNC045 Fanconi Anemia, Complementation Group F 36
389 c SPH015 Spherocytosis, Type 3 36
390 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
391 c TRN009 Transient Hypogammaglobulinemia of Infancy 36
392 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
393 ACQ031 Acquired Idiopathic Sideroblastic Anemia 36
394 c PRM149 Primary Hypereosinophilic Syndrome 35
395 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 35
396 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 35
397 NNK001 Nonaka Myopathy 35
398 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
399 NNT011 Neonatal Anemia 35
400 HYP001 Hypochromic Microcytic Anemia 34
401 OVR093 Overhydrated Hereditary Stomatocytosis 34
402 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
403 c CNG379 Congenital Disorder of Glycosylation, Type It 34
404 SML011 Smoldering Myeloma 33
405 GNT005 Giant Hemangioma 33
406 P RFR008 Refractory Anemia with Excess Blasts 33
407 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
408 KLL014 Kelley-Seegmiller Syndrome 33
409 MYL002 Myelophthisic Anemia 32
410 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 32
411 c PRM038 Primary Agammaglobulinemia 32
412 NNS003 Non-Secretory Myeloma 32
413 c HRD146 Hereditary Methemoglobinemia 31
414 FLL042 Folliculotropic Mycosis Fungoides 31
415 MLD013 Mild Hemophilia a 31
416 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
417 CNG017 Congenital Nonspherocytic Hemolytic Anemia 31
418 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 31
419 c CNG020 Congenital Hypogammaglobulinemia 31
420 c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 30
421 OVL001 Ovalocytosis, Southeast Asian 30
422 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
423 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
424 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
425 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
426 c CNG188 Congenital Disorder of Glycosylation, Type if 30
427 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
428 FLC001 Folic Acid Deficiency Anemia 29
429 RHN013 Rh-Null, Regulator Type 29
430 RHS001 Rh Isoimmunization 29
431 c FNC062 Fanconi Anemia, Complementation Group S 29
432 CRY019 Cryohydrocytosis 29
433 c FNC023 Fanconi Anemia, Complementation Group N 29
434 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
435 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
436 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
437 PHS014 Phosphoglycerate Kinase 1 Deficiency 29
438 ACD001 Acidophil Adenoma 29
439 c FNC028 Fanconi Anemia, Complementation Group L 29
440 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
441 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 29
442 PRK005 Prekallikrein Deficiency 29
443 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
444 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
445 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
446 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
447 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
448 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 28
449 CMP040 Complement Component 4, Partial Deficiency of 28
450 CRT005 Cortical Thymoma 27
451 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
452 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
453 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
454 TKN001 Takenouchi-Kosaki Syndrome 26
455 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
456 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
457 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
458 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 26
459 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
460 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
461 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
462 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
463 c SPH017 Spherocytosis, Type 5 26
464 DND003 Dendritic Cell Thymoma 26
465 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
466 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
467 ARG006 Aregenerative Anemia 25
468 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
469 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
470 c FNC048 Fanconi Anemia, Complementation Group O 25
471 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
472 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
473 c FNC029 Fanconi Anemia, Complementation Group I 24
474 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
475 RFR007 Refractory Anemia with Excess Blasts in Transformation 24
476 LFF002 Loeffler Syndrome 24
477 IND003 Indolent Myeloma 24
478 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
479 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
480 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
481 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
482 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
483 MYH015 Myh-9 Related Disease 24
484 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
485 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
486 c FNC046 Fanconi Anemia, Complementation Group P 23
487 HVY003 Heavy Chain Deposition Disease 23
488 FNC030 Fanconi Anemia, Complementation Group G 23
489 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
490 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
491 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
492 CMP041 Complement Factor D Deficiency 23
493 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 23
494 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
495 HYP018 Hyperglobulinemic Purpura 22
496 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
497 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 22
498 P SLF001 Sulfhemoglobinemia 22
499 c FNC047 Fanconi Anemia, Complementation Group Q 22
500 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
501 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 21
502 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 21
503 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
504 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 21
505 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 21
506 c FNC061 Fanconi Anemia, Complementation Group W 21
507 c FNC025 Fanconi Anemia, Complementation Group J 21
508 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
509 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
510 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
511 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 20
512 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
513 c FNC057 Fanconi Anemia, Complementation Group U 20
514 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 20
515 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 20
516 c FNC058 Fanconi Anemia, Complementation Group R 20
517 c ATS210 Autosomal Recessive Sideroblastic Anemia 20
518 c FNC052 Fanconi Anemia, Complementation Group T 20
519 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 20
520 c ANM034 Anemia, Sideroblastic, 4 20
521 c FNC056 Fanconi Anemia, Complementation Group V 19
522 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 19
523 RFM002 Roifman-Chitayat Syndrome 19
524 c PRM150 Primary Localized Amyloidosis 19
525 c SDR005 Sideroblastic Anemia Acquired 19
526 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 19
527 ATM069 Autoimmune Hemolytic Anemia, Warm Type 19
528 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 19
529 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
530 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 18
531 DSS003 Disseminated Eosinophilic Collagen Disease 18
532 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 18
533 TLN012 Telangiectasia Macularis Eruptiva Perstans 18
534 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 18
535 HMP028 Hemophagocytic Syndrome Associated with an Infection 18
536 c NTR045 Neutropenia, Chronic Familial 18
537 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 17
538 TRN017 Transient Neonatal Neutropenia 17
539 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
540 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
541 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 16
542 CGL001 Coagulation Protein Disease 16
543 c SCN051 Secondary Pulmonary Alveolar Proteinosis 16
544 ISL085 Isolated Agammaglobulinemia 16
545 LFR008 L-Ferritin Deficiency 16
546 c ATS209 Autosomal Dominant Secondary Polycythemia 16
547 MDR007 Moderately Severe Hemophilia a 16
548 c CNG121 Congenital Pulmonary Alveolar Proteinosis 16
549 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 15
550 c AHM002 Ah Amyloidosis 15
551 NNT054 Neonatal Alloimmune Neutropenia 15
552 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 14
553 PLT001 Plethora of Newborn 14
554 c CNG336 Congenital Analbuminemia 14
555 BLL014 Bullous Diffuse Cutaneous Mastocytosis 14
556 LGH014 Light and Heavy Chain Deposition Disease 14
557 STR007 Stress Polycythemia 14
558 LCL017 Localized Pagetoid Reticulosis 13
559 INT034 Intracranial Cavernous Angioma 13
560 ISL033 Isolated Delta-Storage Pool Disease 13
561 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
562 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 12
563 BLD072 Bleeding Disorder, East Texas Type 11
564 SML030 Smouldering Systemic Mastocytosis 10
565 PRT025 Protein-Deficiency Anemia 10
566 c KRN003 Kernicterus Due to Isoimmunization 10
567 c RFR014 Refractory Anemia with Excess Blasts Type 2 10
568 CHR058 Chronic Congestive Splenomegaly 10
569 c ACQ039 Acquired Purpura Fulminans 9
570 c RFR015 Refractory Anemia with Excess Blasts Type 1 9
571 NDL018 Nodular Urticaria Pigmentosa 9
572 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 8
573 c SLF013 Sulfhemoglobinemia, Congenital 8
574 PDT039 Pediatric Castleman Disease 7
575 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 7
576 DCN001 Dic in Newborn 7
577 CVR005 Cavernous Hemangioma of Orbit 7
578 c SCN042 Secondary Hypereosinophilic Syndrome 7
579 c ELN001 Elane-Related Neutropenia 7
580 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
581 CHR062 Chronic Erythremia 6
582 c EPB003 Epb42-Related Hereditary Spherocytosis 6
583 c ATS269 Autosomal Dominant Sideroblastic Anemia 6
584 EXT049 Extramedullary Soft Tissue Plasmacytoma 6
585 SMP006 Simple Cryoglobulinemia 6
586 PLY128 Polyclonal Hyperviscosity Syndrome 6
587 c SSC054 Susceptibility to Localized Juvenile Periodontitis 6
588 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
589 TYP022 Typical Urticaria Pigmentosa 6
590 PLQ001 Plaque-Form Urticaria Pigmentosa 6
591 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 6
592 c PLY005 Polycythemia Due to Hypoxia 6
593 SLT002 Solitary Plasmacytoma of Chest Wall 5
594 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 5
595 UNC008 Unclassified Myelodysplastic Syndrome 5
596 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 5
597 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 5
598 SYM020 Symptomatic Form of Hemophilia a in Female Carriers 4
599 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 4
600 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 4
601 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 4
602 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 4
603 PRT104 Protein S Acquired Deficiency 4
604 CVR003 Cavernous Hemangioma of Face 4
605 PHY001 Physiological Polycythemia 4
606 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 3
607 HML038 Hemolytic Anemia Due to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 3
608 DHY001 Dehydration Polycythemia 3
609 MTH064 Methemoglobinemia, Beta-Globin Type 39
610 c NNS007 Nonsyndromic Deafness 44
611 c DFN190 Deafness, Autosomal Dominant 2a 41
612 c DFN200 Deafness, Autosomal Dominant 17 40
613 c DFN197 Deafness, Autosomal Recessive 37 40
614 c DFN107 Deafness, Autosomal Dominant 10 39
615 c DFN174 Deafness, Autosomal Recessive 44 39
616 c DFN202 Deafness, Autosomal Dominant 48 39
617 c DFN250 Deafness, Autosomal Recessive 2 38
618 c DFN203 Deafness, Autosomal Recessive 30 38
619 c DFN196 Deafness, Autosomal Dominant 22 38
620 c DFN354 Deafness, Autosomal Dominant 20 38
621 c DFN251 Deafness, Autosomal Dominant 11 38
622 c DFN097 Deafness, Autosomal Recessive 1a 37
623 c DFN117 Deafness, Autosomal Dominant 15 37
624 c DFN353 Deafness, Autosomal Dominant 12 36
625 c DFN092 Deafness, Autosomal Recessive 49 36
626 c DFN141 Deafness, Autosomal Recessive 12 36
627 c DFN168 Deafness, Autosomal Recessive 26 36
628 c DFN124 Deafness, Autosomal Recessive 6 35
629 c DFN252 Deafness, Autosomal Recessive 24 35
630 c DFN130 Deafness, Autosomal Recessive 21 35
631 c DFN351 Deafness, Autosomal Dominant 6 35
632 c DFN143 Deafness, Autosomal Recessive 16 35
633 c DFN330 Deafness, Autosomal Recessive 97 34
634 c DFN131 Deafness, Autosomal Dominant 1 34
635 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
636 c DFN120 Deafness, Autosomal Recessive 39 34
637 c DFN093 Deafness, Autosomal Recessive 23 34
638 c DFN094 Deafness, Autosomal Dominant 28 33
639 c DFN114 Deafness, Autosomal Recessive 67 33
640 c DFN192 Deafness, Autosomal Dominant 23 33
641 c DFN137 Deafness, Autosomal Dominant 13 33
642 c DFN189 Deafness, Autosomal Dominant 25 33
643 c DFN095 Deafness, Autosomal Recessive 25 33
644 c DFN136 Deafness, Autosomal Dominant 9 33
645 c DFN133 Deafness, Autosomal Recessive 9 32
646 c DFN201 Deafness, Autosomal Recessive 3 32
647 c DFN184 Deafness, Autosomal Recessive 85 32
648 c DFN183 Deafness, Autosomal Recessive 83 32
649 c DFN249 Deafness, Autosomal Recessive 93 32
650 c DFN128 Deafness, Autosomal Dominant 36 31
651 c DFN260 Deafness, Autosomal Recessive 89 31
652 c DFN121 Deafness, Autosomal Recessive 28 31
653 c DFN151 Deafness, Autosomal Dominant 24 31
654 c DFN269 Deafness, Autosomal Recessive 98 31
655 c DFN148 Deafness, Autosomal Dominant 16 31
656 c DFN029 Deafness, Autosomal Recessive 51 30
657 c DFN352 Deafness, Autosomal Recessive 8 30
658 c DFN360 Deafness, Autosomal Dominant 69 30
659 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
660 c DFN240 Deafness, Autosomal Recessive 96 29
661 c DFN116 Deafness, Autosomal Recessive 74 29
662 c DFN171 Deafness, Autosomal Recessive 33 29
663 c DFN258 Deafness, Autosomal Recessive 48 28
664 c DFN181 Deafness, Autosomal Recessive 66 28
665 c DFN118 Deafness, Autosomal Dominant 44 28
666 c DFN160 Deafness, Autosomal Dominant 52 28
667 c DFN098 Deafness, Autosomal Dominant 3a 28
668 c DFN139 Deafness, Autosomal Recessive 29 28
669 c DFN246 Deafness, Autosomal Dominant 51 28
670 c DFN127 Deafness, Autosomal Recessive 7 27
671 c DFN178 Deafness, Autosomal Recessive 59 27
672 c DFN244 Deafness, Autosomal Recessive 42 27
673 c DFN150 Deafness, Autosomal Dominant 21 27
674 c ATS005 Autosomal Dominant Nonsyndromic Deafness 26
675 c DFN111 Deafness, Autosomal Recessive 35 26
676 c DFN108 Deafness, Autosomal Recessive 77 26
677 c DFN123 Deafness, Autosomal Recessive 79 26
678 c DFN284 Deafness, Autosomal Dominant 67 26
679 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
680 c DFN262 Deafness, Autosomal Recessive 15 26
681 c DFN253 Deafness, Autosomal Recessive 84a 25
682 c DFN138 Deafness, Autosomal Recessive 53 25
683 c DFN248 Deafness, Autosomal Recessive 18b 25
684 c DFN163 Deafness, Autosomal Dominant 7 25
685 c DFN280 Deafness, Autosomal Recessive 25
686 c DFN266 Deafness, Autosomal Dominant 4b 25
687 c DFN154 Deafness, Autosomal Dominant 31 25
688 c DFN119 Deafness, Autosomal Dominant 50 25
689 c DFN357 Deafness, Autosomal Recessive 47 25
690 c DFN263 Deafness, Autosomal Recessive 68 24
691 c DFN272 Deafness, Autosomal Dominant 54 24
692 c DFN103 Deafness, Autosomal Recessive 1b 24
693 c DFN112 Deafness, Autosomal Recessive 63 24
694 c DFN177 Deafness, Autosomal Recessive 5 24
695 c DFN159 Deafness, Autosomal Dominant 5 23
696 c DFN155 Deafness, Autosomal Dominant 41 23
697 c DFN247 Deafness, Autosomal Recessive 18a 23
698 c DFN158 Deafness, Autosomal Dominant 49 23
699 c DFN278 Deafness, Autosomal Dominant 65 23
700 c DFN170 Deafness, Autosomal Recessive 31 23
701 c DFN161 Deafness, Autosomal Dominant 53 23
702 c DFN243 Deafness, Autosomal Recessive 88 22
703 c DFN156 Deafness, Autosomal Dominant 43 22
704 c DFN173 Deafness, Autosomal Recessive 40 22
705 c DFN167 Deafness, Autosomal Recessive 20 22
706 c DFN166 Deafness, Autosomal Recessive 17 21
707 c DFN241 Deafness, Autosomal Recessive 32 21
708 c DFN261 Deafness, Autosomal Recessive 46 21
709 c DFN134 Deafness, Autosomal Dominant 40 21
710 c DFN281 Deafness, Autosomal Recessive 103 20
711 c DFN254 Deafness, Autosomal Recessive 84b 20
712 c DFN099 Deafness, Autosomal Dominant 2b 20
713 c DFN180 Deafness, Autosomal Recessive 65 20
714 c DFN265 Deafness, Autosomal Recessive 76 20
715 c DFN274 Deafness, Autosomal Dominant 56 20
716 c DFN271 Deafness, Autosomal Dominant 58 20
717 c DFN255 Deafness, Autosomal Dominant 64 20
718 c DFN329 Deafness, Autosomal Dominant 66 20
719 c DFN257 Deafness, Autosomal Dominant 33 20
720 c DFN327 Deafness, Autosomal Dominant 70 20
721 c DFN132 Deafness, Autosomal Recessive 22 20
722 c DFN188 Deafness, Autosomal Recessive 61 20
723 c DFN283 Deafness, Autosomal Recessive 104 20
724 c DFN259 Deafness, Autosomal Recessive 86 20
725 c DFN267 Deafness, Autosomal Dominant 4a 20
726 c DFN164 Deafness, Autosomal Recessive 13 20
727 c DFN162 Deafness, Autosomal Dominant 59 20
728 c DFN169 Deafness, Autosomal Recessive 27 19
729 c DFN273 Deafness, Autosomal Recessive 101 19
730 c DFN149 Deafness, Autosomal Dominant 18 19
731 c DFN172 Deafness, Autosomal Recessive 38 19
732 c DFN277 Deafness, Autosomal Recessive 102 19
733 c DFN326 Deafness, Autosomal Recessive 105 19
734 c DFN135 Deafness, Autosomal Recessive 91 19
735 c DFN242 Deafness, Autosomal Recessive 70 19
736 c DFN325 Deafness, Autosomal Recessive 108 19
737 c DFN153 Deafness, Autosomal Dominant 30 19
738 c DFN157 Deafness, Autosomal Dominant 47 19
739 c DFN152 Deafness, Autosomal Dominant 27 19
740 c DFN361 Deafness, Autosomal Recessive 106 18
741 c DFN333 Deafness, Autosomal Dominant 73 18
742 c DFN179 Deafness, Autosomal Recessive 62 18
743 c DFN182 Deafness, Autosomal Recessive 71 18
744 c DFN336 Deafness, Autosomal Dominant 68 18
745 c DFN030 Deafness, Autosomal Recessive 55 18
746 c DFN102 Deafness, Autosomal Dominant 3b 18
747 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 18
748 c DFN165 Deafness, Autosomal Recessive 14 18
749 c DFN175 Deafness, Autosomal Recessive 45 18
750 c DFN328 Deafness, Autosomal Dominant 72 18
751 c DFN335 Deafness, Autosomal Dominant 71 17
752 c DFN337 Deafness, Autosomal Recessive 107 17
753 P FML056 Familial Deafness 17
754 c DFN364 Deafness, Autosomal Recessive 57 14
755 c DFN365 Deafness, Autosomal Recessive 109 14
756 c OTF001 Otof-Related Deafness 14
757 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 8
758 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 8
759 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 8
760 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 8
761 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 8
762 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 8
763 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 8
764 FCT007 Factor Vii Deficiency 61
765 RTC002 Reticular Dysgenesis 52
766 c HMP029 Hemophilia a 68
767 c HMP004 Hemophilia B 67
768 BRG013 Buerger Disease 62
769 c ACQ014 Acquired Hemophilia 51
770 FCT002 Factor Xi Deficiency 64
771 MCL009 Mcleod Syndrome 45
772 c HMG029 Hemoglobin Se Disease 23
773 P PRP029 Porphyria 62
774 BDD001 Budd-Chiari Syndrome 58
775 c ACT078 Acute Porphyria 47
776 EVN001 Evans' Syndrome 47
777 c HRM017 Hermansky-Pudlak Syndrome 2 43
778 P HRM001 Hermansky-Pudlak Syndrome 62
779 ALP103 Alpha-1-Antitrypsin Deficiency 61
780 JCB001 Jacobsen Syndrome 50
781 URN003 Urinary Schistosomiasis 49
782 GLT018 Glut1 Deficiency Syndrome 1 37
783 IVC001 Ivic Syndrome 28
784 HMT019 Hematohidrosis 12
785 KTZ001 Kotzot-Richter Syndrome 8
786 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 7
787 SCH014 Schistosomiasis 62
788 CTS005 Catastrophic Antiphospholipid Syndrome 44
789 HMG009 Hemoglobin Zurich 21
790 c MCP050 Mucopolysaccharidosis, Type Ii 63
791 c MCP049 Mucopolysaccharidosis, Type Vii 63
792 c MCP024 Mucopolysaccharidosis Type Vi 62
793 c MCP001 Mucopolysaccharidosis Iii 60
794 c MCP004 Mucopolysaccharidosis Iv 59
795 c MCP043 Mucopolysaccharidosis, Type Iiia 52
796 P MCP040 Mucopolysaccharidosis-Plus Syndrome 50
797 c MCP044 Mucopolysaccharidosis, Type Iiib 44
798 c MCP047 Mucopolysaccharidosis, Type Iva 44
799 c MCP051 Mucopolysaccharidosis, Type Ix 36
800 c MCP045 Mucopolysaccharidosis, Type Iiic 34
801 c MCP046 Mucopolysaccharidosis, Type Iiid 31
802 c MCP048 Mucopolysaccharidosis, Type Ivb 30
803 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
804 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
805 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 24
806 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 19
807 ANG063 Angiolipomatosis, Familial 16
808 FYP001 Faye-Petersen-Ward-Carey Syndrome 10
809 TSY001 Tau Syndrome 4
810 P FNC027 Fanconi Anemia, Complementation Group a 78
811 PLY001 Polycythemia Vera 74
812 P LKM002 Leukemia 72
813 MYL009 Myelodysplastic Syndrome 70
814 P FLL037 Follicular Lymphoma 69
815 P DMN001 Diamond-Blackfan Anemia 69
816 P CHR012 Chronic Granulomatous Disease 69
817 P MYL006 Myeloid Leukemia 68
818 CHD001 Chediak-Higashi Syndrome 65
819 SYS004 Systemic Mastocytosis 65
820 CHR063 Chronic Mucocutaneous Candidiasis 65
821 c CHR417 Chronic Graft Versus Host Disease 64
822 c GLY008 Glycogen Storage Disease Ii 64
823 MST017 Mast Cell Disease 63
824 P GLY013 Glycogen Storage Disease 61
825 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 61
826 PLS011 Plasmacytoma 60
827 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
828 c ACT073 Acute Leukemia 60
829 c AFB002 Afibrinogenemia, Congenital 60
830 LKC009 Leukocyte Adhesion Deficiency, Type I 57
831 P MNC007 Monocytic Leukemia 57
832 c GLY060 Glycogen Storage Disease Ia 57
833 PYR041 Pyruvate Kinase Deficiency of Red Cells 57
834 FCT003 Factor X Deficiency 57
835 c ACT135 Acute Graft Versus Host Disease 56
836 PRP082 Porphyria, Congenital Erythropoietic 55
837 LYM027 Lymphopenia 55
838 P CTN015 Cutaneous T Cell Lymphoma 55
839 IRN002 Iron Metabolism Disease 55
840 c LKM070 Leukemia, Acute Monocytic 55
841 c GLY003 Glycogen Storage Disease Iii 55
842 CHL061 Childhood Leukemia 55
843 P HRD011 Hereditary Spherocytosis 55
844 P LYM033 Lymphoproliferative Syndrome 55
845 c ANM036 Anemia, Sideroblastic, 1 55
846 c GLY004 Glycogen Storage Disease V 54
847 c HMN021 Human T-Cell Leukemia Virus Type 1 52
848 CHR635 Chromosome 5q Deletion Syndrome 52
849 RTC009 Reticulum Cell Sarcoma 52
850 WHM001 Whim Syndrome 51
851 FCT004 Factor Xii Deficiency 51
852 TRS021 Triosephosphate Isomerase Deficiency 51
853 c GLY007 Glycogen Storage Disease Iv 51
854 P MGL001 Megaloblastic Anemia 51
855 PRR002 Pure Red-Cell Aplasia 51
856 SPL004 Splenic Marginal Zone Lymphoma 51
857 c GLY005 Glycogen Storage Disease Vi 51
858 AGN012 Agnathia-Otocephaly Complex 51
859 MST002 Mast-Cell Leukemia 51
860 PLS009 Plasma Cell Neoplasm 51
861 MNC006 Monoclonal Gammopathy of Uncertain Significance 51
862 P DYS026 Dysfibrinogenemia 50
863 CHR563 Chronic Eosinophilic Leukemia 50
864 PRL017 Prolymphocytic Leukemia 50
865 ATY042 Atypical Chronic Myeloid Leukemia 50
866 P TCL004 T-Cell Leukemia 50
867 LYM012 Lymphoplasmacytic Lymphoma 50
868 INT054 Intraocular Lymphoma 50
869 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 50
870 RCH001 Richter's Syndrome 49
871 CTN014 Cutaneous Mastocytosis 49
872 ORT008 Orotic Aciduria 49
873 HYP088 Hyper-Igd Syndrome 49
874 P AFB001 Afibrinogenemia 49
875 CNG028 Congenital Hypoplastic Anemia 48
876 c GMM003 Gamma Heavy Chain Disease 48
877 GLC009 Glucosephosphate Dehydrogenase Deficiency 48
878 MYD002 Myd88 Deficiency 48
879 c GLY011 Glycogen Storage Disease Vii 48
880 c ERY048 Erythrocytosis, Familial, 2 47
881 c CHR418 Chronic Leukemia 47
882 LGH004 Light Chain Deposition Disease 47
883 c DMN023 Diamond-Blackfan Anemia 1 46
884 AGG002 Aggressive Systemic Mastocytosis 46
885 GLT007 Glutathione Synthetase Deficiency 46
886 THY009 Thyroid Lymphoma 46
887 FCT005 Factor Xiii Deficiency 45
888 RDD003 Riddle Syndrome 45
889 ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 45
890 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 45
891 c LYM107 Lymphoproliferative Syndrome 2 45
892 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 45
893 FLL013 Follicular Dendritic Cell Sarcoma 44
894 MCR225 Macrophage Activation Syndrome 44
895 DFF001 Diffuse Cutaneous Mastocytosis 44
896 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 43
897 BCL002 B Cell Deficiency 43
898 ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 43
899 NTR005 Nutritional Deficiency Disease 43
900 c MGL018 Megaloblastic Anemia 1 42
901 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 42
902 c HMN022 Human T-Cell Leukemia Virus Type 2 42
903 P HRD012 Hereditary Elliptocytosis 42
904 IMM184 Immunodeficiency 17 42
905 SPL012 Splenic Disease 42
906 ACQ017 Acquired Von Willebrand Syndrome 42
907 c FLL041 Follicular Lymphoma 1 42
908 MYL013 Myeloperoxidase Deficiency 41
909 INT221 Intravascular Large B-Cell Lymphoma 41
910 NDL024 Nodal Marginal Zone Lymphoma 41
911 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 41
912 CMP004 Complement Factor I Deficiency 41
913 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 40
914 SHW001 Shwartzman Phenomenon 40
915 c GLY098 Glycogen Storage Disease, Type Ixd 40
916 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 39
917 SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 39
918 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39
919 CMP090 Complement Component 3 Deficiency, Autosomal Recessive 39
920 CMP042 Complement Factor H Deficiency 39
921 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 39
922 HNZ004 Heinz Body Anemias 38
923 SLT001 Solitary Osseous Plasmacytoma 38
924 GDS001 Good Syndrome 38
925 NDL020 Nodal Marginal Zone B-Cell Lymphoma 38
926 OST008 Osteosclerotic Myeloma 38
927 MST001 Mast-Cell Sarcoma 37
928 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 37
929 c MNS014 Monosomy 22 37
930 FTL004 Fetal Erythroblastosis 37
931 ACT177 Acute Basophilic Leukemia 36
932 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 36
933 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 36
934 VSC008 Vascular Hemostatic Disease 36
935 c LKM004 Leukemia, B-Cell, Chronic 36
936 PLY112 Polyarteritis Nodosa, Childhood-Onset 36
937 AGM004 Agammaglobulinemia, Non-Bruton Type 36
938 c GLY016 Glycogen Storage Disease Ib 35
939 CMP001 Composite Lymphoma 35
940 P PRM293 Primary Mediastinal B-Cell Lymphoma 35
941 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 35
942 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 35
943 FLT009 Folate Malabsorption, Hereditary 35
944 RFR002 Refractory Hairy Cell Leukemia 35
945 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
946 c GLY023 Glycogen Storage Disease Type 0 34
947 HST016 Histiocytic Sarcoma 34
948 c CHR064 Chronic Monocytic Leukemia 34
949 RTN072 Retinohepatoendocrinologic Syndrome 33
950 ALK003 Aleukemic Leukemia Cutis 33
951 c DYS165 Dysfibrinogenemia, Congenital 33
952 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 32
953 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 32
954 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 32
955 NNT007 Neonatal Leukemia 32
956 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 31
957 c LYM106 Lymphoproliferative Syndrome 1 31
958 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 31
959 c GLY044 Glycogen Storage Disease Ixc 31
960 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31
961 PLM049 Plummer Vinson Syndrome 30
962 PRP038 Properdin Deficiency, X-Linked 30
963 ASP026 Asplenia, Isolated Congenital 30
964 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 30
965 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 30
966 c GLY057 Glycogen Storage Disease X 29
967 EXT007 Extracutaneous Mastocytoma 29
968 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 29
969 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
970 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 29
971 NTR011 Neutrophil-Specific Granule Deficiency 28
972 c GLY017 Glycogen Storage Disease Ic 28
973 GLT005 Glutamate Formiminotransferase Deficiency 28
974 c FNC024 Fanconi Anemia, Complementation Group D1 28
975 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 27
976 IMM070 Immunodeficiency 13 27
977 HGH020 High Molecular Weight Kininogen Deficiency 27
978 MYL067 Myeloproliferative Disorder, Chronic, with Eosinophilia 27
979 c GLY043 Glycogen Storage Disease Xii 27
980 EPT007 Epithelial Malignant Thymoma 26
981 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 26
982 c GLY097 Glycogen Storage Disease Ixb 26
983 c DMN017 Diamond-Blackfan Anemia 10 26
984 PRD001 Predominantly Cortical Thymoma 26
985 c LKM005 Leukemia, T-Cell, Chronic 26
986 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26
987 IMM062 Immunodeficiency 11 26
988 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 26
989 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 26
990 c GLY009 Glycogen Storage Disease Xv 26
991 CD8002 Cd8 Deficiency, Familial 25
992 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 25
993 CLS052 Classic Hairy Cell Leukemia 25
994 STN012 Sting-Associated Vasculopathy, Infantile-Onset 25
995 NTR006 Neutrophil Immunodeficiency Syndrome 25
996 c DMN022 Diamond-Blackfan Anemia 9 25
997 c DMN021 Diamond-Blackfan Anemia 6 25
998 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 25
999 c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 25
1000 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 24
1001 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 24
1002 IMM095 Immunodeficiency 35 24
1003 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 24
1004 HSH001 Hashimoto-Pritzker Syndrome 24
1005 FCL083 Ficolin 3 Deficiency 24
1006 IMM143 Immunodeficiency 48 24
1007 NTR036 Neutropenia, Severe Congenital, X-Linked 23
1008 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 23
1009 ACQ016 Acquired Pure Red Cell Aplasia 23
1010 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 23
1011 c DMN019 Diamond-Blackfan Anemia 4 23
1012 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
1013 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23
1014 c DMN024 Diamond-Blackfan Anemia 7 23
1015 IMM068 Immunodeficiency 8 22
1016 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
1017 c GLY059 Glycogen Storage Disease Xiii 22
1018 c DMN018 Diamond-Blackfan Anemia 5 22
1019 IMM120 Immunodeficiency 40 22
1020 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 22
1021 c DMN040 Diamond-Blackfan Anemia 16 22
1022 IMM077 Immunodeficiency 20 22
1023 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1024 c ELL005 Elliptocytosis 2 22
1025 c ELL010 Elliptocytosis 1 22
1026 IMM117 Immunodeficiency by Defective Expression of Hla Class 1 22
1027 c ADL093 Adult Acute Monocytic Leukemia 22
1028 c DMN029 Diamond-Blackfan Anemia 11 22
1029 c DMN006 Diamond-Blackfan Anemia 3 22
1030 c MNS008 Monosomy 21 22
1031 IMM063 Immunodeficiency 15 21
1032 PLS003 Plasmacytic Leukemia 21
1033 IMM180 Immunodeficiency 28 21
1034 P MNS011 Monosomy 9q22.3 21
1035 c DMN020 Diamond-Blackfan Anemia 8 21
1036 IMM183 Immunodeficiency 32a 21
1037 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 21
1038 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 21
1039 c GLY006 Glycogen Storage Disease Viii 20
1040 IMM075 Immunodeficiency 22 20
1041 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1042 BSP004 Bisphosphoglycerate Mutase Deficiency 20
1043 IMM134 Immunodeficiency, Common Variable, 13 20
1044 IMM071 Immunodeficiency 12 20
1045 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 20
1046 c DMN028 Diamond-Blackfan Anemia 12 20
1047 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 20
1048 PRM128 Primary Cutaneous Follicle Center Lymphoma 20
1049 IMM079 Immunodeficiency, Common Variable, 11 20
1050 BSP001 Basophil Adenoma 20
1051 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 20
1052 ALK017 Alk-Positive Large B-Cell Lymphoma 19
1053 FBR023 Fibrinogen Deficiency, Congenital 19
1054 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 19
1055 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 19
1056 IMM142 Immunodeficiency 50 19
1057 IMM190 Immunodeficiency 55 19
1058 MSP001 Masp2 Deficiency 19
1059 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 19
1060 TCL022 T-Cell Receptor-Alpha/beta Deficiency 19
1061 ACT176 Acute Panmyelosis with Myelofibrosis 19
1062 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 19
1063 RFR001 Refractory Plasma Cell Neoplasm 19
1064 IMM118 Immunodeficiency 42 19
1065 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 19
1066 c ATS229 Autosomal Recessive Lymphoproliferative Disease 18
1067 IMM186 Immunodeficiency 27b 18
1068 IMM135 Immunodeficiency 46 18
1069 IMM076 Immunodeficiency 24 18
1070 IMM150 Immunodeficiency 52 18
1071 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
1072 BND002 B- and T-Cell Mixed Leukemia 18
1073 IMM181 Immunodeficiency 29 18
1074 c ELL006 Elliptocytosis 3 18
1075 c DMN030 Diamond-Blackfan Anemia 13 18
1076 IMM182 Immunodeficiency 31a 18
1077 c DMN039 Diamond-Blackfan Anemia 17 18
1078 P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 17
1079 c GLY093 Glycogen Storage Disease Ixa 17
1080 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
1081 c ERY031 Erythrocytosis, Familial, 3 17
1082 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 16
1083 c DMN005 Diamond-Blackfan Anemia 2 16
1084 PRM133 Primary Pulmonary Lymphoma 16
1085 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1086 c ERY032 Erythrocytosis, Familial, 4 15
1087 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 15
1088 HYD045 Hydroa Vacciniforme-Like Lymphoma 15
1089 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 14
1090 WLD007 Waldenstroem's Macroglobulinemia 14
1091 ACT179 Acute Myeloid Leukemia with 11q23 Abnormalities 13
1092 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 13
1093 c ERY063 Erythrocytosis, Familial, 5 13
1094 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12
1095 ALK014 Aleukemic Mast Cell Leukemia 12
1096 c SBC015 Subacute Monocytic Leukemia 12
1097 c DMN045 Diamond-Blackfan Anemia-Like 12
1098 c GLY001 Glycogen Storage Disease Ix 12
1099 ALP049 Alopecia Antibody Deficiency 12
1100 c SBC006 Subacute Leukemia 11
1101 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 11
1102 c ERY064 Erythrocytosis, Familial, 6 11
1103 c ERY065 Erythrocytosis, Familial, 7 11
1104 ALK002 Aleukemic Monocytic Leukemia Cutis 10
1105 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 10
1106 BSP002 Basophilic Carcinoma 10
1107 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 9
1108 CVR004 Cavernous Hemangioma of Colon 9
1109 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 9
1110 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 8
1111 INT035 Intrapelvic Lymph Node Leukemic Reticuloendotheliosis 8
1112 LYM117 Lymphocytic Hypereosinophilic Syndrome 8
1113 NKD001 Nik Deficiency 7
1114 c HMN023 Human T-Cell Leukemia Virus Type 3 7
1115 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1116 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 6
1117 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 6
1118 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1119 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1120 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 6
1121 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 6
1122 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 6
1123 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
1124 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
1125 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
1126 PRM142 Primary Oculocerebral Lymphoma 5
1127 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 5
1128 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 5
1129 CLS019 Classic Mast Cell Leukemia 5
1130 PRM165 Primary Plasmacytoma of the Bone 5
1131 PRM148 Primary Lymphoma of the Conjunctiva 5
1132 c FML317 Familial Monosomy 7 Syndrome 4
1133 ANT036 Anti-Hla Hyperimmunization 3
1134 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
1135 VSC006 Vascular Cancer 47
1136 HYD038 Hydrops Fetalis, Nonimmune 49
1137 TWN001 Twin-to-Twin Transfusion Syndrome 50
1138 HPT046 Hepatic Veno-Occlusive Disease 57
1139 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 31
1140 SCH028 Schlegelberger Grote Syndrome 7
1141 LMR001 Lemierre's Syndrome 46
1142 MGK001 Megakaryocytic Leukemia 63
1143 RBR001 Roberts Syndrome 55
1144 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 39
1145 P ATX030 Ataxia-Telangiectasia 79
1146 MNT001 Mantle Cell Lymphoma 73
1147 ACR006 Aceruloplasminemia 73
1148 P FML018 Familial Mediterranean Fever 73
1149 MYC006 Mycosis Fungoides 72
1150 c ATM006 Autoimmune Lymphoproliferative Syndrome 70
1151 CMM004 Common Variable Immunodeficiency 70
1152 c LKM063 Leukemia, Chronic Myeloid 70
1153 P NJM001 Nijmegen Breakage Syndrome 70
1154 c LKM062 Leukemia, Acute Lymphoblastic 69
1155 P AGM019 Agammaglobulinemia, X-Linked 68
1156 BRK010 Burkitt Lymphoma 68
1157 c JVN004 Juvenile Myelomonocytic Leukemia 67
1158 P DYS007 Dyskeratosis Congenita 67
1159 P LYM026 Lymphoblastic Leukemia 64
1160 MYL031 Myeloproliferative Neoplasm 63
1161 VLC001 Velocardiofacial Syndrome 63
1162 SVR066 Severe Combined Immunodeficiency, X-Linked 63
1163 IMM174 Immunodeficiency with Hyper-Igm, Type 1 63
1164 CNC002 Cinca Syndrome 62
1165 P CHR285 Chronic Myelomonocytic Leukemia 62
1166 P WLD002 Waldenstrom Macroglobulinemia 61
1167 P OST001 Osteopetrosis 61
1168 BLM001 Bloom Syndrome 60
1169 VNW001 Von Willebrand's Disease 60
1170 P ACT074 Acute Lymphocytic Leukemia 59
1171 PRD013 Periodic Fever, Familial, Autosomal Dominant 59
1172 P NPH012 Nephrotic Syndrome 59
1173 ACT119 Acute Promyelocytic Leukemia 59
1174 P ANP001 Anaplastic Large Cell Lymphoma 59
1175 HRY003 Hairy Cell Leukemia 59
1176 PRM042 Primary Effusion Lymphoma 58
1177 BRL012 Bare Lymphocyte Syndrome, Type Ii 57
1178 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1179 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 56
1180 DFF005 Diffuse Large B-Cell Lymphoma 56
1181 MRG003 Marginal Zone B-Cell Lymphoma 56
1182 PST046 Post-Transplant Lymphoproliferative Disease 55
1183 P ERY058 Erythrocytosis, Familial, 1 55
1184 P TRC086 Trichohepatoenteric Syndrome 1 54
1185 P FML052 Familial Cold Autoinflammatory Syndrome 53
1186 c INF071 Inflammatory Bowel Disease 1 53
1187 P INF037 Inflammatory Bowel Disease 53
1188 MYL004 Myelodysplastic Myeloproliferative Cancer 53
1189 PLS025 Plasmablastic Lymphoma 53
1190 c LKM060 Leukemia, Acute Lymphoblastic 3 53
1191 c ACT020 Acute T Cell Leukemia 52
1192 PRN001 Purine Nucleoside Phosphorylase Deficiency 52
1193 c TCL005 T-Cell Prolymphocytic Leukemia 52
1194 BRT005 Barth Syndrome 51
1195 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 51
1196 MYL003 Myeloid Sarcoma 51
1197 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
1198 ATR002 Atransferrinemia 51
1199 P FNC043 Fanconi Anemia, Complementation Group E 51
1200 PPL049 Papillon-Lefevre Syndrome 50
1201 LYM051 Lymphomatoid Granulomatosis 50
1202 EPD001 Epidermodysplasia Verruciformis 50
1203 HRP009 Herpes Simplex Encephalitis 50
1204 CLD007 Cold Agglutinin Disease 49
1205 CHR286 Chronic Neutrophilic Leukemia 48
1206 LKC005 Leukocyte Adhesion Deficiency, Type Iii 48
1207 TCL002 T-Cell Large Granular Lymphocyte Leukemia 47
1208 ANG046 Angioimmunoblastic T-Cell Lymphoma 47
1209 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 46
1210 IMM104 Immunodeficiency with Hyper-Igm, Type 2 46
1211 ACT200 Acute Monoblastic Leukemia 46
1212 VCS001 Vici Syndrome 46
1213 c ADL052 Adult Acute Lymphocytic Leukemia 46
1214 c NPH055 Nephrotic Syndrome, Type 1 46
1215 IRK001 Irak4 Deficiency 45
1216 CLL014 Cll/sll 45
1217 IMM102 Immunodeficiency 14 45
1218 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
1219 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 44
1220 LYM052 Lymphomatoid Papulosis 44
1221 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 44
1222 c PSR021 Psoriasis 14, Pustular 44
1223 HPT070 Hepatosplenic T-Cell Lymphoma 43
1224 P BCL005 B Cell Prolymphocytic Leukemia 43
1225 c OST131 Osteopetrosis, Autosomal Dominant 2 43
1226 PLS016 Plasma Cell Leukemia 42
1227 IRN004 Iron-Refractory Iron Deficiency Anemia 42
1228 IMM015 Immune Defect Due to Absence of Thymus 42
1229 IMM105 Immunodeficiency with Hyper-Igm, Type 3 42
1230 MTR008 Mature B-Cell Neoplasm 41
1231 ISL115 Isolated Growth Hormone Deficiency, Type Iii 41
1232 c LKM056 Leukemia, Chronic Lymphocytic 2 41
1233 IMM131 Immunodeficiency with Hyper-Igm, Type 4 41
1234 c ATS282 Autosomal Recessive Malignant Osteopetrosis 40
1235 P PST059 Pustular Psoriasis 40
1236 P 8P1002 8p11 Myeloproliferative Syndrome 40
1237 ACT113 Acute Myeloblastic Leukemia with Maturation 40
1238 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 39
1239 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 39
1240 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 38
1241 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 38
1242 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 38
1243 c MYL058 Myeloproliferative Syndrome, Transient 37
1244 CNT018 Central Nervous System Leukemia 37
1245 TRN030 Transient Erythroblastopenia of Childhood 37
1246 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1247 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 36
1248 MTH021 Methylmalonic Acidemia with Homocystinuria 34
1249 c TRC078 Trichohepatoenteric Syndrome 2 34
1250 c FML015 Familial Nephrotic Syndrome 34
1251 BCL008 B-Cell Childhood Acute Lymphoblastic Leukemia 34
1252 c NPH049 Nephrotic Syndrome, Type 2 34
1253 LNG004 Langerhans Cell Sarcoma 34
1254 c FML117 Familial Cold Autoinflammatory Syndrome 2 34
1255 c INF086 Inflammatory Bowel Disease 3 33
1256 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 33
1257 c OST163 Osteopetrosis, Autosomal Recessive 3 33
1258 IMM064 Immunodeficiency, Common Variable, 10 32
1259 c OST129 Osteopetrosis, Autosomal Recessive 2 32
1260 RFM001 Roifman Syndrome 32
1261 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 31
1262 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 31
1263 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 31
1264 ACT114 Acute Myeloblastic Leukemia Without Maturation 31
1265 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 31
1266 c OST134 Osteopetrosis, Autosomal Recessive 6 30
1267 c NPH054 Nephrotic Syndrome, Type 3 30
1268 UNC014 Unicentric Castleman Disease 30
1269 IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30
1270 c ALP087 Alpha-Heavy Chain Disease 29
1271 c NPH072 Nephrotic Syndrome, Type 7 29
1272 GRN032 Granulomatous Slack Skin Disease 29
1273 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1274 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 29
1275 NLL001 Null-Cell Leukemia 29
1276 c INF087 Inflammatory Bowel Disease 4 28
1277 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 28
1278 c FML253 Familial Cold Autoinflammatory Syndrome 3 28
1279 CNG016 Congenital Intrinsic Factor Deficiency 28
1280 IMM080 Immunodeficiency 23 28
1281 IMM065 Immunodeficiency 10 27
1282 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 27
1283 CTN027 Cutaneous Mastocytoma 27
1284 c INF089 Inflammatory Bowel Disease 6 26
1285 c INF092 Inflammatory Bowel Disease 9 26
1286 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 25
1287 ERY051 Erythroleukemia, Familial 25
1288 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 25
1289 c OST136 Osteopetrosis, Autosomal Recessive 7 25
1290 c NPH047 Nephrotic Syndrome, Type 4 25
1291 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 24
1292 IMM100 Immunoglobulin Kappa Light Chain Deficiency 24
1293 c INF075 Inflammatory Bowel Disease 16 24
1294 c OST125 Osteopetrosis, Autosomal Dominant 1 23
1295 c OST106 Osteopetrosis, Autosomal Recessive 8 23
1296 c INF088 Inflammatory Bowel Disease 5 23
1297 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 23
1298 IMM066 Immunodeficiency 9 23
1299 IMM176 Immunodeficiency with Hyper-Igm, Type 5 23
1300 c MCR161 Macroglobulinemia, Waldenstrom 1 23
1301 c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 23
1302 c OST120 Osteopetrosis, Autosomal Recessive 5 23
1303 IMM166 Immunodeficiency 27a 22
1304 c OST137 Osteopetrosis, Autosomal Recessive 4 22
1305 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 22
1306 IMM191 Immunodeficiency 56 22
1307 c NPH073 Nephrotic Syndrome, Type 8 21
1308 c INF078 Inflammatory Bowel Disease 2 21
1309 SPC022 Specific Antibody Deficiency 21
1310 c NPH074 Nephrotic Syndrome, Type 9 21
1311 IMM074 Immunodeficiency 16 21
1312 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1313 IMM096 Immunodeficiency 30 21
1314 IMM099 Immunodeficiency 33 21
1315 IMM178 Immunodeficiency 31b 21
1316 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21
1317 c INF072 Inflammatory Bowel Disease 11 21
1318 c INF077 Inflammatory Bowel Disease 19 21
1319 c NPH070 Nephrotic Syndrome, Type 6 20
1320 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 20
1321 SLC003 Selective Igm Deficiency Disease 20
1322 BNM011 Bone Marrow Failure Syndrome 2 20
1323 c LKM055 Leukemia, Acute Lymphoblastic 2 20
1324 c NPH096 Nephrotic Syndrome, Type 12 19
1325 c NPH094 Nephrotic Syndrome 14 19
1326 c FML270 Familial Cold Autoinflammatory Syndrome 4 19
1327 c INF093 Inflammatory Bowel Disease 14 19
1328 c NPH095 Nephrotic Syndrome, Type 11 19
1329 c FML344 Familial Mediterranean Fever, Autosomal Dominant 19
1330 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 19
1331 c AGM018 Agammaglobulinemia, X-Linked, Type 2 19
1332 SBL003 Subleukemic Leukemia 19
1333 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1334 PRM151 Primary Bone Lymphoma 19
1335 IMM130 Immunoneurologic Disorder, X-Linked 18
1336 c INF090 Inflammatory Bowel Disease 7 18
1337 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 18
1338 TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 17
1339 c NPH076 Nephrotic Syndrome, Type 10 17
1340 c INF068 Inflammatory Bowel Disease 13 17
1341 c LKM050 Leukemia, Chronic Lymphocytic 1 17
1342 c NPH092 Nephrotic Syndrome 15 17
1343 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1344 c INF079 Inflammatory Bowel Disease 20 17
1345 IMM172 Immunodeficiency 34 17
1346 c LKM051 Leukemia, Chronic Lymphocytic 3 17
1347 c INF067 Inflammatory Bowel Disease 10 17
1348 c PSR022 Psoriasis 15, Pustular 17
1349 c NPH093 Nephrotic Syndrome, Type 13 17
1350 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 16
1351 c LKM052 Leukemia, Chronic Lymphocytic 5 16
1352 c INF160 Inflammatory Bowel Disease 17 16
1353 LCH010 Lichtenstein Syndrome 16
1354 c NPH101 Nephrotic Syndrome 16 15
1355 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
1356 ERY007 Erythropoietin Polycythemia 14
1357 c INF080 Inflammatory Bowel Disease 21 14
1358 c INF091 Inflammatory Bowel Disease 8 13
1359 c INF076 Inflammatory Bowel Disease 18 13
1360 c MCR162 Macroglobulinemia, Waldenstrom 2 12
1361 c INF073 Inflammatory Bowel Disease 12 12
1362 c INF074 Inflammatory Bowel Disease 15 12
1363 c INF081 Inflammatory Bowel Disease 22 12
1364 c INF082 Inflammatory Bowel Disease 23 12
1365 c INF083 Inflammatory Bowel Disease 24 12
1366 c INF084 Inflammatory Bowel Disease 26 12
1367 c INF085 Inflammatory Bowel Disease 27 12
1368 c INF162 Inflammatory Bowel Disease 25 12
1369 ISL032 Isolated Bone Marrow Mastocytosis 12
1370 c LKM053 Leukemia, Chronic Lymphocytic 4 12
1371 c ANP011 Anaplastic Small Cell Lymphoma 11
1372 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 11
1373 c MYL070 Myeloproliferative Disease, Autosomal Recessive 11
1374 c INF161 Inflammatory Bowel Disease 28 11
1375 NTR010 Neutropenia Monocytopenia Deafness 11
1376 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 11
1377 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
1378 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 10
1379 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 9
1380 c CLC009 Clcn7-Related Osteopetrosis 9
1381 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 8
1382 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 8
1383 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 8
1384 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 7
1385 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7
1386 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
1387 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 6
1388 MYL066 Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement 6
1389 CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 6
1390 PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5
1391 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 22
1392 BLS007 Blastic Plasmacytoid Dendritic Cell 45
1393 MYL069 Myeloma, Multiple 83
1394 c LKM071 Leukemia, Chronic Lymphocytic 75
1395 APL001 Aplastic Anemia 73
1396 LYM133 Lymphoma, Hodgkin, Classic 71
1397 P MYL005 Myelofibrosis 70
1398 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 69
1399 OMN001 Omenn Syndrome 67
1400 P HMP002 Hemophagocytic Lymphohistiocytosis 67
1401 P BCL006 B-Cell Lymphomas 65
1402 SZR001 Sezary's Disease 63
1403 ABT001 Abetalipoproteinemia 63
1404 PMS001 Poems Syndrome 63
1405 c ADL017 Adult T-Cell Leukemia 62
1406 LSC001 Lesch-Nyhan Syndrome 62
1407 CHR003 Cherubism 56
1408 P GRS003 Griscelli Syndrome 56
1409 P CNT005 Central Nervous System Lymphoma 56
1410 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 56
1411 P ACR001 Aicardi-Goutieres Syndrome 56
1412 BNM001 Bone Marrow Cancer 54
1413 c PRM226 Primary Central Nervous System Lymphoma 51
1414 FLT011 Felty Syndrome 51
1415 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 50
1416 c GRS014 Griscelli Syndrome, Type 2 49
1417 ACT103 Acute Lymphoblastic Leukemia, Childhood 48
1418 HNC001 Henoch-Schoenlein Purpura 47
1419 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 47
1420 SCH016 Schimke Immunoosseous Dysplasia 47
1421 c GRS013 Griscelli Syndrome, Type 1 47
1422 NTR003 Natural Killer Cell Leukemia 45
1423 CSP005 Caspase 8 Deficiency 44
1424 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 44
1425 PRS127 Pearson Marrow-Pancreas Syndrome 44
1426 PKL001 Poikiloderma with Neutropenia 43
1427 c ACR116 Aicardi-Goutieres Syndrome 1 43
1428 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1429 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 40
1430 c GRS012 Griscelli Syndrome, Type 3 39
1431 ENT008 Enteropathy-Associated T-Cell Lymphoma 38
1432 IMM078 Immunodeficiency 21 37
1433 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 36
1434 MJD001 Majeed Syndrome 34
1435 c ACR088 Aicardi-Goutieres Syndrome 3 34
1436 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 33
1437 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 33
1438 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 32
1439 c ACR092 Aicardi-Goutieres Syndrome 5 32
1440 c ACR091 Aicardi-Goutieres Syndrome 4 32
1441 P SNG014 Singleton-Merten Syndrome 31
1442 c ACR090 Aicardi-Goutieres Syndrome 2 30
1443 IMM179 Immunodeficiency 31c 29
1444 LYM094 Lymphedema, Primary, with Myelodysplasia 29
1445 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 28
1446 c ACR081 Aicardi-Goutieres Syndrome 6 28
1447 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 27
1448 c SNG011 Singleton-Merten Syndrome 1 27
1449 c ACR084 Aicardi-Goutieres Syndrome 7 26
1450 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
1451 BNM010 Bone Marrow Failure Syndrome 1 25
1452 IMM177 Immunodeficiency 54 22
1453 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
1454 GRW003 Growth Hormone Insensitivity with Immunodeficiency 20
1455 c SNG012 Singleton-Merten Syndrome 2 18
1456 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
1457 c TCL008 T-Cell Lymphoma 1a 12
1458 c FML078 Familial Myelofibrosis 7
1459 c LKM061 Leukemia, Acute Myeloid 80
1460 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 69
1461 MCK007 Muckle-Wells Syndrome 64
1462 P SHW006 Shwachman-Diamond Syndrome 1 62
1463 P CND004 Candidiasis 60
1464 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
1465 RVS001 Revesz Syndrome 40
1466 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 40
1467 c CND034 Candidiasis, Familial, 2 29
1468 c CND036 Candidiasis, Familial, 4 25
1469 c FML334 Familial Candidiasis 24
1470 c CND025 Candidiasis, Familial, 8 22
1471 c CND033 Candidiasis, Familial, 1 21
1472 c CND031 Candidiasis, Familial, 9 19
1473 c CND037 Candidiasis, Familial, 6 18
1474 c CND027 Candidiasis, Familial, 3 16
1475 c SHW007 Shwachman-Diamond Syndrome 2 15
1476 MSM014 Mismatch Repair Cancer Syndrome 62
1477 NTH001 Netherton Syndrome 60



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