Blood Diseases Category (1470 diseases)


Including: Blood, Hematological, Arythrocytes, Hemoglobin, Thalassemia, Clotting
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# Family MCID Name MIFTS
1 GLN010 Glanzmann Thrombasthenia 64
2 THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58
3 BRN082 Bernard-Soulier Syndrome, Type C 52
4 GRY002 Gray Platelet Syndrome 53
5 P ESS003 Essential Thrombocythemia 70
6 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 28
7 THR042 Thrombocytopenia, X-Linked 43
8 c THR054 Thrombotic Thrombocytopenic Purpura, Familial 43
9 THR009 Thrombocytopenia-Absent Radius Syndrome 58
10 HRD083 Hereditary Antithrombin Deficiency 21
11 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42
12 P SCK034 Sickle Beta Thalassemia 30
13 GHS004 Ghosal Hematodiaphyseal Syndrome 25
14 PRT114 Prothrombin Thrombophilia 16
15 THR100 Thrombocytopenic Purpura, Autoimmune 54
16 THL016 Thalassemias, Alpha- 53
17 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 39
18 SCT005 Scott Syndrome 51
19 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62
20 HMT002 Hematologic Cancer 62
21 P THR005 Thrombotic Thrombocytopenic Purpura 57
22 HMG025 Hemoglobin H Disease, Nondeletional 39
23 c THR103 Thrombocytopenia, Congenital Amegakaryocytic 47
24 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 39
25 P THL005 Thalassemia 61
26 P HYP620 Hypoprothrombinemia 56
27 FCT013 Factor V Leiden Thrombophilia 22
28 STR081 Stormorken Syndrome 47
29 BLD053 Blood Platelet Disease 46
30 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 16
31 SCK003 Sickle Cell Anemia 71
32 c BLD123 Bleeding Disorder, Platelet-Type, 13 20
33 c MYH004 Myh9 Related Thrombocytopenia 22
34 THR104 Thrombophilia Due to Antithrombin Iii Deficiency 48
35 c THR092 Thrombophilia Due to Thrombin Defect 50
36 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 29
37 c BLD125 Bleeding Disorder, Platelet-Type, 17 25
38 VNW004 Von Willebrand Disease, Platelet-Type 31
39 HMN035 Hemangioma-Thrombocytopenia Syndrome 29
40 c BLD121 Bleeding Disorder, Platelet-Type, 15 21
41 HRD163 Hereditary Antithrombin Deficiency Type 2 8
42 HRD164 Hereditary Antithrombin Deficiency Type I 6
43 QBC001 Quebec Platelet Disorder 52
44 P BLD120 Bleeding Disorder, Platelet-Type, 8 29
45 HPR003 Heparin-Induced Thrombocytopenia 44
46 c BLD124 Bleeding Disorder, Platelet-Type, 11 36
47 THR101 Thrombocytopenia, Paris-Trousseau Type 24
48 c BLD122 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 33
49 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 33
50 c THR037 Thrombocytopenia 2 37
51 ALP034 Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 24
52 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 23
53 c BLD133 Bleeding Disorder, Platelet-Type, 20 17
54 c ACQ015 Acquired Hypoprothrombinemia 14
55 c PRT045 Prothrombin-Related Thrombophilia 11
56 THR016 Thrombophlebitis 52
57 EPS006 Epstein Syndrome 41
58 THL011 Thalassemia-Beta, Dominant Inclusion-Body 21
59 c BLD127 Bleeding Disorder, Platelet-Type, 19 19
60 P HML033 Hemolytic Uremic Syndrome, Atypical 1 46
61 STR089 Storage Pool Platelet Disease 35
62 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
63 c HML034 Hemolytic Uremic Syndrome, Atypical 3 28
64 c HML032 Hemolytic Uremic Syndrome, Atypical 4 28
65 c HML037 Hemolytic Uremic Syndrome, Atypical 5 28
66 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 27
67 c HML036 Hemolytic Uremic Syndrome, Atypical 6 27
68 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 22
69 c THB001 Thbd-Related Atypical Hemolytic-Uremic Syndrome 9
70 c C3R001 C3-Related Atypical Hemolytic-Uremic Syndrome 6
71 c CD4005 Cd46-Related Atypical Hemolytic-Uremic Syndrome 6
72 c CFB001 Cfb-Related Atypical Hemolytic-Uremic Syndrome 6
73 c CFH004 Cfh-Related Atypical Hemolytic-Uremic Syndrome 6
74 c CFR001 Cfi-Related Atypical Hemolytic-Uremic Syndrome 6
75 c DGK002 Dgke-Related Atypical Hemolytic-Uremic Syndrome 6
76 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 5
77 PRX008 Paroxysmal Cold Hemoglobinuria 28
78 SCK020 Sickle Cell - Hemoglobin D Disease 25
79 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 20
80 THR039 Thrombocytopenia Robin Sequence 11
81 c THR102 Thrombocytopenia 5 31
82 c THR110 Thrombocytopenia 6 28
83 c THR082 Thrombophilia Due to Activated Protein C Resistance 51
84 c THR090 Thrombocythemia 1 39
85 WTL002 Wt Limb-Blood Syndrome 20
86 c BLD126 Bleeding Disorder, Platelet-Type, 18 18
87 THR021 Thrombophilia Due to Hrg Deficiency 17
88 PRT011 Protein C Deficiency 49
89 MYH001 May-Hegglin Anomaly 45
90 CYC007 Cyclic Thrombocytopenia 40
91 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 40
92 CHR466 Chronic Thromboembolic Pulmonary Hypertension 38
93 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 11
94 c PLT024 Platelet-Type Bleeding Disorder 12 10
95 ALP014 Alpha-Thalassemia/mental Retardation Syndrome 52
96 c THR087 Thrombocythemia 2 26
97 PLT004 Platelet Glycoprotein Iv Deficiency 23
98 THR025 Thromboxane Synthase Deficiency 19
99 NTR040 Neutropenia, Cyclic 53
100 HMG005 Hemoglobinopathy 51
101 HLL004 Hellp Syndrome 48
102 ANM026 Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities 25
103 PRX023 Paroxysmal Nocturnal Hemoglobinuria, Somatic 20
104 FCH003 Fechtner Syndrome 39
105 THL010 Thalassemia Minor 38
106 SGT001 Sagittal Sinus Thrombosis 33
107 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 21
108 WHT007 White Platelet Syndrome 18
109 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 15
110 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 14
111 PRM053 Primary Release Disorder of Platelets 14
112 c BLD132 Bleeding Disorder, Platelet-Type, 21 13
113 FMR001 Femoral Vein Thrombophlebitis 13
114 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 11
115 GT1007 Gata1-Related Thrombocytopenia with Beta-Thalassemia 7
116 P THR014 Thrombocytopenia 63
117 THR004 Thrombocytosis 52
118 SCK005 Sickle Cell Disease 51
119 BLD054 Blood Protein Disease 39
120 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 32
121 c THR086 Thrombocythemia 3 28
122 c RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 21
123 c THR023 Thrombophilia Due to Thrombomodulin Defect 18
124 c MCR125 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 16
125 PRN017 Perianal Hematoma 15
126 c THR111 Thrombocytopenia 3 37
127 BLC004 Blackwater Fever 31
128 c THR048 Thrombocytopenia 4 29
129 CNT010 Central Nervous System Hematologic Cancer 19
130 PRT014 Protein S Deficiency 51
131 CRN017 Coronary Thrombosis 47
132 THR024 Thrombosis 43
133 c ACQ005 Acquired Thrombocytopenia 36
134 P RDL006 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 27
135 CVR002 Cavernous Sinus Thrombosis 26
136 HMG010 Hemoglobinemia 26
137 LTR002 Lateral Sinus Thrombosis 26
138 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
139 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 21
140 GLY021 Glycoprotein Ia Deficiency 18
141 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 18
142 HMT001 Hematocele of Tunica Vaginalis Testis 17
143 THR108 Thrombocytopenia with or Without Dyserythropoietic Anemia 12
144 FML146 Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia 9
145 P THR046 Thrombasthenia of Glanzmann and Naegeli, Itga2b-Related 7
146 c THR047 Thrombasthenia of Glanzmann and Naegeli, Itgb3-Related 7
147 THR043 Thrombomodulin Anomalies, Familial 6
148 MCR041 Macrothrombocytopenia Progressive Deafness 4
149 P PRP029 Porphyria 59
150 c ACT078 Acute Porphyria 44
151 HMT018 Hematopoietic Stem Cell Transplantation 40
152 SBS006 Sebastian Syndrome 37
153 HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 30
154 THR020 Thrombophilia Due to Heparin Cofactor Ii Deficiency 20
155 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 18
156 DSL003 Dias-Logan Syndrome 18
157 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 16
158 c URD001 Urod-Related Porphyrias 10
159 c HYP595 Hypertension, Essential 66
160 PRT018 Portal Vein Thrombosis 47
161 c MLG069 Malignant Hypertension 46
162 c HMG003 Hemoglobin E Disease 43
163 P FML187 Familial Hypertension 37
164 STC016 Sticky Platelet Syndrome 30
165 c MLG039 Malignant Essential Hypertension 29
166 c MLG080 Malignant Secondary Hypertension 29
167 c BNG021 Benign Essential Hypertension 25
168 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 24
169 P BRN111 Bernard-Soulier Syndrome, Type A2 22
170 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 19
171 c HYP454 Hypertension, Essential 8 17
172 THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 16
173 c HYP453 Hypertension, Essential 7 15
174 c SCK008 Sickle Delta Beta Thalassemia 11
175 c BNG034 Benign Secondary Hypertension 11
176 FCT006 Factor V Deficiency 59
177 P THR015 Thrombophilia 58
178 THL018 Thalassemia Major 52
179 HMG002 Hemoglobinuria 48
180 c HMG001 Hemoglobin C Disease 44
181 P BLD051 Blood Coagulation Disease 43
182 THR035 Thrombasthenia 41
183 THL017 Thalassemia Intermedia 40
184 c INH004 Inherited Blood Coagulation Disease 39
185 INT078 Intracranial Thrombosis 37
186 INT076 Intracranial Sinus Thrombosis 24
187 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 20
188 SYS059 Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 17
189 HMG015 Hemoglobin S Beta-Thalassemia 16
190 c DLT012 Delta-Thalassemia 16
191 c BRN063 Bernard-Soulier Syndrome Type a 10
192 c MST015 Mastl-Related Thrombocytopenia 2 9
193 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 9
194 PRM285 Primitive Portal Vein Thrombosis 9
195 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 8
196 ILC001 Iliac Vein Thrombophlebitis 8
197 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 8
198 c CLR118 Calr-Related Essential Thrombocythemia 7
199 c THP002 Thpo-Related Essential Thrombocythemia 6
200 HRD118 Hereditary Thrombocytosis with Transverse Limb Defect 6
201 CYT021 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 6
202 HMG024 Hemoglobinopathy Toms River 5
203 MDC003 Medich Giant Platelet Syndrome 4
204 INH014 Inherited Predisposition to Essential Thrombocythemia 4
205 FCT018 Factor V R2 Mutation Thrombophilia 4
206 GT1003 Gata1-Related Anemia with Thrombocytopenia 3
207 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 2
208 THR038 Thrombocytopenia Cerebellar Hypoplasia Short Stature 2
209 PST095 Post-Thrombotic Syndrome 48
210 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 27
211 RFR004 Refractory Hematologic Cancer 27
212 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 18
213 HMM001 Hemometra 17
214 THR095 Thrombocytopenia, Neonatal Alloimmune 12
215 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 11
216 RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 37
217 ATM012 Autoimmune Disease of Blood 37
218 MRN001 Marantic Endocarditis 33
219 MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 21
220 TKN001 Takenouchi-Kosaki Syndrome 20
221 THR007 Thrombophlebitis Migrans 17
222 ADL059 Adult I Phenotype Without Cataract 12
223 EMP007 Emphysema Due to Aat Deficiency 42
224 c PRM225 Primary Thrombocytopenia 42
225 CRT004 Carotid Artery Thrombosis 40
226 c HMG004 Hemoglobin D Disease 33
227 CRB132 Cerebral Sinovenous Thrombosis 29
228 P ATS208 Autosomal Dominant Macrothrombocytopenia 26
229 SMH001 Sm-Ahnmd 26
230 BLD052 Blood Group Incompatibility 25
231 HMG012 Hemoglobin Constant Spring 20
232 P HMG016 Hemoglobin Sd 20
233 MTH028 Mthfr Thermolabile Variant 18
234 TFR002 Tafro Syndrome 16
235 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 16
236 VNS012 Venous Thoracic Outlet Syndrome 14
237 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 14
238 TRN013 Transient Neonatal Thrombocytopenia 13
239 HRD147 Hereditary Thrombophilia Due to Congenital Protein S Deficiency 13
240 ACH007 Achenbach Syndrome 12
241 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 12
242 UNS001 Unstable Hemoglobin Disease 11
243 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 10
244 THR098 Thrombocythemia, X-Linked 8
245 c HMG017 Hemoglobin So 8
246 FML151 Familial Thrombotic Thrombocytopenia Purpura 7
247 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 7
248 MCR328 Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome 7
249 HMG014 Hemoglobin Quong Sze 7
250 FCT017 Factor V Cambridge Thrombophilia 7
251 c GT1006 Gata1-Related Thrombocytopenia 6
252 HMG013 Hemoglobin Pakse 5
253 HRD170 Hereditary Persistence of Fetal Hemoglobin, Klf1-Related 4
254 ADL065 Adult I Blood Group with or Without Congenital Cataract 4
255 FCT019 Factor Vii Marburg I Variant Thrombophilia 4
256 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 4
257 DDX003 Ddx41-Related Hematologic Malignancy Predisposition Syndrome 2
258 SCK036 Sickle Cell Disease Associated with an Other Hemoglobin Anomaly 2
259 KPS004 Kaposi Sarcoma 67
260 P AGM001 Agammaglobulinemia 64
261 P AMY004 Amyloidosis 64
262 P HYP098 Hypereosinophilic Syndrome 61
263 P HML002 Hemolytic Anemia 61
264 DFC004 Deficiency Anemia 60
265 c ATM010 Autoimmune Hemolytic Anemia 60
266 P NTR004 Neutropenia 58
267 PRP030 Purpura 57
268 P PLY018 Polycythemia 56
269 c SVR003 Severe Congenital Neutropenia 56
270 PLS011 Plasmacytoma 56
271 c ALM001 Al Amyloidosis 56
272 P GT001 Gout 55
273 P HMR003 Hemorrhagic Disease 55
274 P HMP007 Hemophilia 55
275 P HST010 Histiocytosis 54
276 LG4001 Lig4 Syndrome 54
277 c PRM012 Primary Polycythemia 53
278 c HRM005 Hermansky-Pudlak Syndrome 1 52
279 IRN001 Iron Deficiency Anemia 51
280 DSS009 Disseminated Intravascular Coagulation 50
281 c MLG054 Malignant Histiocytosis 50
282 PNC001 Pancytopenia 49
283 c HRM006 Hermansky-Pudlak Syndrome 3 49
284 EXT010 Extramedullary Plasmacytoma 48
285 P CNG411 Congenital Disorder of Glycosylation, Type in 48
286 c FNC042 Fanconi Anemia, Complementation Group D2 48
287 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
288 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
289 P FNC044 Fanconi Anemia, Complementation Group C 47
290 TRN022 Transcobalamin Ii Deficiency 47
291 VNW005 Von Willebrand Disease, Type 1 47
292 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 47
293 HYP063 Hypersplenism 47
294 P PLM006 Pulmonary Alveolar Proteinosis 46
295 P PRD008 Periodontitis 46
296 GRF001 Graft-Versus-Host Disease, Protection Against 46
297 LKC003 Leukocyte Disease 46
298 c CNG027 Congenital Hemolytic Anemia 45
299 RFR010 Refractory Anemia 45
300 c AMY009 Amyloidosis Aa 45
301 CVR006 Cavernous Hemangioma 45
302 c HRM008 Hermansky-Pudlak Syndrome 5 45
303 P KRN004 Kernicterus 45
304 PLM035 Pulmonary Eosinophilia 45
305 c HRD039 Hereditary Amyloidosis 44
306 P MTH007 Methemoglobinemia 44
307 MCR018 Microcytic Anemia 44
308 c FNC032 Fanconi Anemia, Complementation Group B 43
309 c SVR056 Severe Hemophilia a 43
310 HYP319 Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 43
311 c SPH013 Spherocytosis, Type 1 42
312 c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 42
313 ESN002 Eosinophilia-Myalgia Syndrome 42
314 ANM001 Anemia of Prematurity 42
315 MCR017 Macrocytic Anemia 42
316 c FNC045 Fanconi Anemia, Complementation Group F 42
317 HNN001 Hennekam Syndrome 41
318 P PRP034 Purpura Fulminans 40
319 P HVY001 Heavy Chain Disease 40
320 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
321 P SDR003 Sideroblastic Anemia 40
322 P CNG003 Congenital Dyserythropoietic Anemia 39
323 c PRM149 Primary Hypereosinophilic Syndrome 39
324 c HRM009 Hermansky-Pudlak Syndrome 6 39
325 P ANL018 Analbuminemia 39
326 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 39
327 c ACQ042 Acquired Hemophilia a 39
328 IND002 Indolent Systemic Mastocytosis 38
329 NTR018 Neutrophilia, Hereditary 38
330 c PRD030 Periodontitis 1, Juvenile 37
331 c SPH014 Spherocytosis, Type 2 37
332 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
333 c MTH037 Methemoglobinemia, Type I 36
334 URT008 Urticaria Pigmentosa 36
335 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
336 LKS001 Leukostasis 35
337 MYL015 Myeloproliferative Disorder with Eosinophilia 35
338 FLC001 Folic Acid Deficiency Anemia 35
339 VNW006 Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 35
340 NNT011 Neonatal Anemia 35
341 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34
342 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
343 c HRM007 Hermansky-Pudlak Syndrome 4 34
344 P TRN016 Transient Hypogammaglobulinemia 34
345 GNT005 Giant Hemangioma 34
346 HML006 Hemolytic Anemia Due to G6pd Deficiency 34
347 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
348 c TRN009 Transient Hypogammaglobulinemia of Infancy 33
349 GLY032 Glycosylphosphatidylinositol Deficiency 33
350 c SPH015 Spherocytosis, Type 3 33
351 HYP001 Hypochromic Microcytic Anemia 33
352 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
353 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 32
354 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
355 c FNC028 Fanconi Anemia, Complementation Group L 32
356 c CNG020 Congenital Hypogammaglobulinemia 32
357 c HRM012 Hermansky-Pudlak Syndrome 9 32
358 c HPR001 Hprt-Related Gout 32
359 c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 32
360 PHS014 Phosphoglycerate Kinase 1 Deficiency 31
361 c SVR057 Severe Hemophilia B 31
362 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
363 OVR093 Overhydrated Hereditary Stomatocytosis 31
364 c CNG379 Congenital Disorder of Glycosylation, Type It 31
365 SML011 Smoldering Myeloma 31
366 c SPH016 Spherocytosis, Type 4 31
367 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
368 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
369 P RFR008 Refractory Anemia with Excess Blasts 31
370 c HRM011 Hermansky-Pudlak Syndrome 8 31
371 c ACQ010 Acquired Polycythemia 30
372 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
373 FNC030 Fanconi Anemia, Complementation Group G 30
374 c FNC046 Fanconi Anemia, Complementation Group P 30
375 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
376 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
377 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
378 c SPH017 Spherocytosis, Type 5 30
379 ATM033 Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 29
380 ESN017 Eosinophilic Granuloma 29
381 c PRM038 Primary Agammaglobulinemia 29
382 c CNG188 Congenital Disorder of Glycosylation, Type if 29
383 P MLD013 Mild Hemophilia a 29
384 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
385 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 29
386 c FNC029 Fanconi Anemia, Complementation Group I 29
387 MYL002 Myelophthisic Anemia 29
388 CNG017 Congenital Nonspherocytic Hemolytic Anemia 28
389 c HRM010 Hermansky-Pudlak Syndrome 7 28
390 FLT004 Fletcher Factor Deficiency 28
391 P ANM009 Anemia, Hemolytic, Rh-Null, Regulator Type 28
392 c FNC023 Fanconi Anemia, Complementation Group N 28
393 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
394 NNS003 Non-Secretory Myeloma 28
395 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 28
396 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 28
397 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
398 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
399 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
400 c AGM009 Agammaglobulinemia 3 27
401 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
402 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
403 EXT007 Extracutaneous Mastocytoma 27
404 RHS001 Rh Isoimmunization 27
405 c AGM012 Agammaglobulinemia 2 27
406 CRY019 Cryohydrocytosis 27
407 CMP041 Complement Factor D Deficiency 27
408 FLL042 Folliculotropic Mycosis Fungoides 27
409 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
410 c AGM011 Agammaglobulinemia 1 27
411 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 26
412 ACD001 Acidophil Adenoma 26
413 c CNG223 Congenital Methemoglobinemia 26
414 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
415 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
416 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
417 c AGM007 Agammaglobulinemia 4 26
418 c AGM010 Agammaglobulinemia 6 26
419 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
420 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
421 c NTR033 Neutropenia, Severe Congenital 1, Autosomal Dominant 26
422 c HRD146 Hereditary Methemoglobinemia 25
423 CRT005 Cortical Thymoma 25
424 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
425 c DYS168 Dyserythropoietic Anemia, Congenital, Type Iv 25
426 c FNC025 Fanconi Anemia, Complementation Group J 25
427 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
428 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 25
429 c HRM020 Hermansky-Pudlak Syndrome 10 25
430 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
431 VNW003 Von Willibrand Disease, Type 3 24
432 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
433 c FNC048 Fanconi Anemia, Complementation Group O 24
434 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
435 OVL005 Ovalocytosis, Sa Type 24
436 c DYS155 Dyserythropoietic Anemia, Congenital, Type Ib 24
437 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 24
438 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 23
439 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
440 c AGM008 Agammaglobulinemia 5 23
441 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 23
442 c ACQ047 Acquired Methemoglobinemia 23
443 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
444 c FNC047 Fanconi Anemia, Complementation Group Q 23
445 ARG006 Aregenerative Anemia 23
446 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
447 IND003 Indolent Myeloma 23
448 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
449 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 23
450 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 23
451 c FNC058 Fanconi Anemia, Complementation Group R 22
452 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 22
453 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
454 c DYS040 Dyskeratosis Congenita Autosomal Recessive 22
455 RFR007 Refractory Anemia with Excess Blasts in Transformation 22
456 c MTH036 Methemoglobinemia, Type Iv 22
457 c NTR037 Neutropenia, Severe Congenital 2, Autosomal Dominant 22
458 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
459 ANM008 Anemia, Sideroblastic, with Ataxia 22
460 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
461 c PRM150 Primary Localized Amyloidosis 22
462 ATM069 Autoimmune Hemolytic Anemia, Warm Type 22
463 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 22
464 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
465 ACQ031 Acquired Idiopathic Sideroblastic Anemia 21
466 DND003 Dendritic Cell Thymoma 21
467 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
468 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
469 HYP018 Hyperglobulinemic Purpura 21
470 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 21
471 HVY003 Heavy Chain Deposition Disease 21
472 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 21
473 HML007 Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency 21
474 P FNC052 Fanconi Anemia, Complementation Group T 21
475 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 20
476 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
477 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 20
478 ANM012 Anemia, Hemolytic, Due to Umph1 Deficiency 20
479 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 20
480 MYH015 Myh-9 Related Disease 20
481 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 20
482 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 19
483 LFF002 Loeffler Syndrome 19
484 SNG008 Singleton-Merten Dysplasia 19
485 SLF001 Sulfhemoglobinemia 19
486 c FNC057 Fanconi Anemia, Complementation Group U 19
487 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 19
488 HML003 Hemolytic Anemia Due to Adenylate Kinase Deficiency 19
489 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 19
490 HML011 Hemolytic Anemia Due to Glutathione Synthetase Deficiency 18
491 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
492 ISL085 Isolated Agammaglobulinemia 18
493 c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 18
494 STR007 Stress Polycythemia 18
495 TRN017 Transient Neonatal Neutropenia 18
496 c RFR014 Refractory Anemia with Excess Blasts Type 2 18
497 c FNC056 Fanconi Anemia, Complementation Group V 18
498 c SCN051 Secondary Pulmonary Alveolar Proteinosis 18
499 CMP040 Complement Component 4, Partial Deficiency of 18
500 DSS003 Disseminated Eosinophilic Collagen Disease 17
501 c ATS210 Autosomal Recessive Sideroblastic Anemia 17
502 BLD072 Bleeding Disorder, East Texas Type 17
503 TLN012 Telangiectasia Macularis Eruptiva Perstans 17
504 LFR006 L-Ferritin Deficiency, Dominant and Recessive 17
505 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 17
506 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 16
507 P MDR007 Moderately Severe Hemophilia a 16
508 LGH014 Light and Heavy Chain Deposition Disease 16
509 c SCN042 Secondary Hypereosinophilic Syndrome 16
510 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 16
511 c ANM034 Anemia, Sideroblastic, 4 16
512 c AHM002 Ah Amyloidosis 16
513 CGL001 Coagulation Protein Disease 16
514 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 16
515 c NTR008 Neutropenia Chronic Familial 16
516 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 16
517 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 16
518 PRT025 Protein-Deficiency Anemia 16
519 c MLD014 Mild Hemophilia B 15
520 c RFR015 Refractory Anemia with Excess Blasts Type 1 15
521 c ATS209 Autosomal Dominant Secondary Polycythemia 15
522 HMP028 Hemophagocytic Syndrome Associated with an Infection 15
523 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 15
524 c SLC023 Slc4a1-Related Spherocytosis 14
525 c CNG121 Congenital Pulmonary Alveolar Proteinosis 14
526 c ANK011 Ank1-Related Spherocytosis 14
527 INT034 Intracranial Cavernous Angioma 14
528 PHY001 Physiological Polycythemia 14
529 c MDR008 Moderately Severe Hemophilia B 14
530 ISL033 Isolated Delta-Storage Pool Disease 14
531 c CNG336 Congenital Analbuminemia 13
532 c SPT017 Spta1-Related Spherocytosis 13
533 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
534 c SPT018 Sptb-Related Spherocytosis 12
535 LCL017 Localized Pagetoid Reticulosis 12
536 c ACQ039 Acquired Purpura Fulminans 12
537 c KRN003 Kernicterus Due to Isoimmunization 12
538 EXT049 Extramedullary Soft Tissue Plasmacytoma 12
539 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 11
540 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
541 PLT001 Plethora of Newborn 10
542 SML030 Smouldering Systemic Mastocytosis 10
543 ATY036 Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 10
544 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 10
545 c ACD010 Acd-Related Dyskeratosis Congenita 10
546 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
547 CHR058 Chronic Congestive Splenomegaly 9
548 c ELN001 Elane-Related Neutropenia 9
549 PRT104 Protein S Acquired Deficiency 9
550 UNC008 Unclassified Myelodysplastic Syndrome 9
551 c PRN059 Parn-Related Dyskeratosis Congenita 9
552 c RTL001 Rtel1-Related Dyskeratosis Congenita 9
553 c SSC054 Susceptibility to Localized Juvenile Periodontitis 8
554 c EPB004 Epb42-Related Spherocytosis 8
555 c RHN011 Rh-Null Regulator Type Related Hemolytic Anemia 8
556 c GTH001 Gout, Hprt1-Related 8
557 TYP022 Typical Urticaria Pigmentosa 8
558 NDL018 Nodular Urticaria Pigmentosa 8
559 c SDR006 Sideroblastic Anemia Pyridoxine-Responsive Autosomal Recessive 7
560 NTR014 Neutropenia, Alloimmune Neonatal 7
561 DCN001 Dic in Newborn 7
562 CVR005 Cavernous Hemangioma of Orbit 7
563 P SYM020 Symptomatic Form of Hemophilia a in Female Carriers 7
564 c SYM021 Symptomatic Form of Hemophilia B in Female Carriers 7
565 c DKC001 Dkc1-Related Dyskeratosis Congenita 6
566 c NHP001 Nhp2-Related Dyskeratosis Congenita 6
567 c NP1001 Nop10-Related Dyskeratosis Congenita 6
568 c TRC065 Terc-Related Dyskeratosis Congenita 6
569 c TRT008 Tert-Related Dyskeratosis Congenita 6
570 c TNF003 Tinf2-Related Dyskeratosis Congenita 6
571 c WRP001 Wrap53-Related Dyskeratosis Congenita 6
572 PDT039 Pediatric Castleman Disease 6
573 SMP006 Simple Cryoglobulinemia 6
574 c SDR005 Sideroblastic Anemia Acquired 6
575 c EPB003 Epb42-Related Hereditary Spherocytosis 6
576 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
577 c GT1005 Gata1-Related Neutropenia 6
578 c ATS269 Autosomal Dominant Sideroblastic Anemia 6
579 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
580 c HML019 Hemolytic Anemia Due to Band 3 Montefiore 6
581 PLQ001 Plaque-Form Urticaria Pigmentosa 6
582 PLY128 Polyclonal Hyperviscosity Syndrome 6
583 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 5
584 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 5
585 c PLY005 Polycythemia Due to Hypoxia 5
586 SLT002 Solitary Plasmacytoma of Chest Wall 5
587 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 4
588 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 4
589 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 4
590 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 4
591 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 4
592 CVR003 Cavernous Hemangioma of Face 4
593 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 3
594 HML038 Hemolytic Anemia Due to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 3
595 DHY001 Dehydration Polycythemia 3
596 P WSK001 Wiskott-Aldrich Syndrome 74
597 c WSK002 Wiskott-Aldrich Syndrome 2 28
598 BRG013 Buerger Disease 54
599 RTC002 Reticular Dysgenesis 51
600 MTH064 Methemoglobinemia, Beta-Globin Type 29
601 FCT007 Factor Vii Deficiency 59
602 c HMG029 Hemoglobin Se Disease 30
603 c HMP029 Hemophilia a 64
604 c HMP004 Hemophilia B 62
605 P BDD001 Budd-Chiari Syndrome 56
606 FCT022 Factor Xi Deficiency, Autosomal Recessive 44
607 EVN001 Evans' Syndrome 41
608 c ACQ014 Acquired Hemophilia 40
609 c SCP001 Sc Phocomelia Syndrome 38
610 P PHC014 Phocomelia 19
611 c DKP001 Dk Phocomelia Syndrome 19
612 c F5R001 F5-Related Budd-Chiari Syndrome 5
613 c JK2001 Jak2-Related Budd-Chiari Syndrome 5
614 PLM129 Pulmonary Disease, Chronic Obstructive 62
615 P HML001 Hemolytic-Uremic Syndrome 49
616 c DFN141 Deafness, Autosomal Recessive 12 42
617 c NNS007 Nonsyndromic Deafness 41
618 c DFN107 Deafness, Autosomal Dominant 10 41
619 c DFN197 Deafness, Autosomal Recessive 37 41
620 c DFN250 Deafness, Autosomal Recessive 2 40
621 c DFN196 Deafness, Autosomal Dominant 22 40
622 c DFN097 Deafness, Autosomal Recessive 1a 40
623 c DFN251 Deafness, Autosomal Dominant 11 39
624 c DFN203 Deafness, Autosomal Recessive 30 39
625 c DFN202 Deafness, Autosomal Dominant 48 39
626 c DFN131 Deafness, Autosomal Dominant 1 38
627 c DFN190 Deafness, Autosomal Dominant 2a 38
628 c DFN200 Deafness, Autosomal Dominant 17 38
629 c DFN092 Deafness, Autosomal Recessive 49 37
630 c DFN124 Deafness, Autosomal Recessive 6 37
631 c DFN117 Deafness, Autosomal Dominant 15 36
632 c DFN252 Deafness, Autosomal Recessive 24 36
633 c DFN143 Deafness, Autosomal Recessive 16 36
634 c DFN112 Deafness, Autosomal Recessive 63 35
635 c DFN137 Deafness, Autosomal Dominant 13 35
636 c DFN174 Deafness, Autosomal Recessive 44 35
637 c DFN120 Deafness, Autosomal Recessive 39 34
638 c DFN093 Deafness, Autosomal Recessive 23 34
639 c DFN095 Deafness, Autosomal Recessive 25 34
640 c DFN103 Deafness, Autosomal Recessive 1b 34
641 c DFN192 Deafness, Autosomal Dominant 23 34
642 c DFN133 Deafness, Autosomal Recessive 9 34
643 c DFN114 Deafness, Autosomal Recessive 67 34
644 c DFN189 Deafness, Autosomal Dominant 25 33
645 c DFN094 Deafness, Autosomal Dominant 28 33
646 c DFN130 Deafness, Autosomal Recessive 21 33
647 c DFN136 Deafness, Autosomal Dominant 9 33
648 c DFN109 Deafness, Autosomal Recessive 36 33
649 c DFN128 Deafness, Autosomal Dominant 36 33
650 c DFN280 Deafness, Autosomal Recessive 32
651 c DFN330 Deafness, Autosomal Recessive 97 31
652 c ATS005 Autosomal Dominant Nonsyndromic Deafness 31
653 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
654 c DFN151 Deafness, Autosomal Dominant 24 31
655 c DFN269 Deafness, Autosomal Recessive 98 30
656 c DFN260 Deafness, Autosomal Recessive 89 30
657 c DFN127 Deafness, Autosomal Recessive 7 30
658 c DFN116 Deafness, Autosomal Recessive 74 30
659 c DFN139 Deafness, Autosomal Recessive 29 30
660 c ATS341 Autosomal Dominant Nonsyndromic Deafness 20 30
661 c DFN183 Deafness, Autosomal Recessive 83 29
662 c DFN184 Deafness, Autosomal Recessive 85 29
663 c DFN118 Deafness, Autosomal Dominant 44 29
664 c DFN148 Deafness, Autosomal Dominant 16 29
665 c DFN029 Deafness, Autosomal Recessive 51 29
666 c DFN111 Deafness, Autosomal Recessive 35 28
667 c DFN258 Deafness, Autosomal Recessive 48 28
668 c DFN244 Deafness, Autosomal Recessive 42 28
669 c DFN178 Deafness, Autosomal Recessive 59 28
670 c DFN121 Deafness, Autosomal Recessive 28 28
671 c DFN246 Deafness, Autosomal Dominant 51 28
672 c DFN123 Deafness, Autosomal Recessive 79 28
673 c ATS342 Autosomal Dominant Nonsyndromic Deafness 6 28
674 c DFN262 Deafness, Autosomal Recessive 15 27
675 c DFN181 Deafness, Autosomal Recessive 66 27
676 c ATS006 Autosomal Recessive Nonsyndromic Deafness 27
677 c DFN240 Deafness, Autosomal Recessive 96 27
678 c DFN138 Deafness, Autosomal Recessive 53 27
679 c DFN168 Deafness, Autosomal Recessive 26 27
680 c DFN108 Deafness, Autosomal Recessive 77 26
681 c DFN150 Deafness, Autosomal Dominant 21 26
682 c DFN268 Deafness, Autosomal Recessive 8/10 26
683 c DFN159 Deafness, Autosomal Dominant 5 26
684 c DFN171 Deafness, Autosomal Recessive 33 26
685 c DFN170 Deafness, Autosomal Recessive 31 26
686 c DFN129 Deafness, Autosomal Dominant 8/12 25
687 c DFN266 Deafness, Autosomal Dominant 4b 25
688 c DFN113 Deafness, Autosomal Dominant 20/26 25
689 c DFN155 Deafness, Autosomal Dominant 41 25
690 c DFN248 Deafness, Autosomal Recessive 18b 25
691 c DFN160 Deafness, Autosomal Dominant 52 25
692 c DFN201 Deafness, Autosomal Recessive 3 25
693 c DFN163 Deafness, Autosomal Dominant 7 24
694 c DFN263 Deafness, Autosomal Recessive 68 24
695 c DFN119 Deafness, Autosomal Dominant 50 24
696 c DFN154 Deafness, Autosomal Dominant 31 24
697 c DFN284 Deafness, Autosomal Dominant 67 24
698 c DFN134 Deafness, Autosomal Dominant 40 23
699 c DFN132 Deafness, Autosomal Recessive 22 23
700 c DFN247 Deafness, Autosomal Recessive 18a 23
701 c DFN278 Deafness, Autosomal Dominant 65 23
702 c DFN098 Deafness, Autosomal Dominant 3a 22
703 c DFN272 Deafness, Autosomal Dominant 54 22
704 c DFN188 Deafness, Autosomal Recessive 61 22
705 c DFN099 Deafness, Autosomal Dominant 2b 22
706 c ATS338 Autosomal Recessive Nonsyndromic Deafness 8 22
707 c DFN177 Deafness, Autosomal Recessive 5 22
708 c ATS340 Autosomal Dominant Nonsyndromic Deafness 12 22
709 c DFN249 Deafness, Autosomal Recessive 93 21
710 c DFN135 Deafness, Autosomal Recessive 91 21
711 c DFN158 Deafness, Autosomal Dominant 49 21
712 c DFN102 Deafness, Autosomal Dominant 3b 21
713 c DFN253 Deafness, Autosomal Recessive 84a 21
714 c DFN255 Deafness, Autosomal Dominant 64 21
715 c DFN267 Deafness, Autosomal Dominant 4a 21
716 c ATS337 Autosomal Recessive Nonsyndromic Deafness 47 21
717 c ATS345 Autosomal Dominant Nonsyndromic Deafness 69 21
718 c DFN193 Deafness, Autosomal Dominant 6/14/38 21
719 c DFN275 Deafness , Autosomal Recessive 86 21
720 c DFN254 Deafness, Autosomal Recessive 84b 20
721 c DFN265 Deafness, Autosomal Recessive 76 20
722 c DFN167 Deafness, Autosomal Recessive 20 20
723 c DFN274 Deafness, Autosomal Dominant 56 20
724 c DFN281 Deafness, Autosomal Recessive 103 20
725 c DFN242 Deafness, Autosomal Recessive 70 20
726 c DFN261 Deafness, Autosomal Recessive 46 20
727 c DFN161 Deafness, Autosomal Dominant 53 20
728 c DFN173 Deafness, Autosomal Recessive 40 20
729 c DFN166 Deafness, Autosomal Recessive 17 19
730 c DFN243 Deafness, Autosomal Recessive 88 19
731 P FML056 Familial Deafness 19
732 c DFN169 Deafness, Autosomal Recessive 27 19
733 c DFN180 Deafness, Autosomal Recessive 65 19
734 c DFN149 Deafness, Autosomal Dominant 18 18
735 c DFN241 Deafness, Autosomal Recessive 32 18
736 c DFN329 Deafness, Autosomal Dominant 66 18
737 c DFN271 Deafness, Autosomal Dominant 58 18
738 c DFN164 Deafness, Autosomal Recessive 13 18
739 c DFN273 Deafness, Autosomal Recessive 101 18
740 c DFN257 Deafness, Autosomal Dominant 33 18
741 c DFN283 Deafness, Autosomal Recessive 104 17
742 c DFN277 Deafness, Autosomal Recessive 102 17
743 c DFN327 Deafness, Autosomal Dominant 70 17
744 c DFN162 Deafness, Autosomal Dominant 59 17
745 c DFN153 Deafness, Autosomal Dominant 30 17
746 c DFN172 Deafness, Autosomal Recessive 38 17
747 c DFN336 Deafness, Autosomal Dominant 68 17
748 c DFN326 Deafness, Autosomal Recessive 105 17
749 c DFN156 Deafness, Autosomal Dominant 43 17
750 c DFN152 Deafness, Autosomal Dominant 27 16
751 c DFN165 Deafness, Autosomal Recessive 14 16
752 c DFN182 Deafness, Autosomal Recessive 71 16
753 c DFN179 Deafness, Autosomal Recessive 62 16
754 c DFN030 Deafness, Autosomal Recessive 55 16
755 c DFN175 Deafness, Autosomal Recessive 45 15
756 c DFN157 Deafness, Autosomal Dominant 47 15
757 c OTF001 Otof-Related Deafness 13
758 c DFN325 Deafness, Autosomal Recessive 108 13
759 c DFN328 Deafness, Autosomal Dominant 72 13
760 c DFN332 Deafness Autosomal Recessive 106 12
761 c DFN333 Deafness, Autosomal Dominant 73 12
762 c DFN335 Deafness, Autosomal Dominant 71 12
763 c DFN337 Deafness, Autosomal Recessive 107 12
764 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
765 URN003 Urinary Schistosomiasis 46
766 CTS005 Catastrophic Antiphospholipid Syndrome 41
767 IVC001 Ivic Syndrome 29
768 c THR060 Thrombophilia, Familial, Due to Decreased Release of Plat 15
769 HMT019 Hematohidrosis 10
770 KTZ001 Kotzot-Richter Syndrome 6
771 P HRM001 Hermansky-Pudlak Syndrome 61
772 SCH014 Schistosomiasis 56
773 c HRM017 Hermansky-Pudlak Syndrome 2 42
774 HMG009 Hemoglobin Zurich 17
775 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 19
776 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 14
777 JCB001 Jacobsen Syndrome 50
778 GLT031 Glut1 Deficiency Syndrome 1, Infantile Onset, Severe 32
779 ATM091 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 17
780 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 16
781 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 12
782 TSY001 Tau Syndrome 12
783 FYP001 Faye-Petersen-Ward-Carey Syndrome 8
784 P MLT019 Multiple Myeloma 82
785 P FLL037 Follicular Lymphoma 71
786 MYL009 Myelodysplastic Syndrome 71
787 c FNC027 Fanconi Anemia, Complementation Group a 71
788 P DMN001 Diamond-Blackfan Anemia 70
789 CHR012 Chronic Granulomatous Disease 66
790 CHD001 Chediak-Higashi Syndrome 65
791 P MYL006 Myeloid Leukemia 64
792 INC002 Inclusion Body Myositis 63
793 MST017 Mast Cell Disease 61
794 CHR063 Chronic Mucocutaneous Candidiasis 61
795 c GLY008 Glycogen Storage Disease Ii 61
796 SYS004 Systemic Mastocytosis 60
797 P GLY013 Glycogen Storage Disease 59
798 FCT003 Factor X Deficiency 59
799 PLY125 Polycythemia Vera, Somatic 59
800 PYR013 Pyruvate Kinase Deficiency 58
801 c GLY060 Glycogen Storage Disease Ia 55
802 LKC001 Leukocyte Adhesion Deficiency 55
803 P LYM033 Lymphoproliferative Syndrome 54
804 P HYP345 Hyper-Ige Recurrent Infection Syndrome 54
805 LYM027 Lymphopenia 54
806 c GLY007 Glycogen Storage Disease Iv 54
807 P HRD011 Hereditary Spherocytosis 53
808 c LYM107 Lymphoproliferative Syndrome 2 53
809 c AFB002 Afibrinogenemia, Congenital 52
810 WHM001 Whim Syndrome 52
811 P ACT135 Acute Graft Versus Host Disease 52
812 P CTN015 Cutaneous T Cell Lymphoma 51
813 NRM003 Norum Disease 51
814 FCT004 Factor Xii Deficiency 50
815 c CHR417 Chronic Graft Versus Host Disease 50
816 c DMN023 Diamond-Blackfan Anemia 1 50
817 c GLY019 Glycogen Storage Disease Iiia 50
818 ORT008 Orotic Aciduria 50
819 THY009 Thyroid Lymphoma 50
820 c ANM036 Anemia, Sideroblastic, 1 49
821 c GMM003 Gamma Heavy Chain Disease 48
822 PRP082 Porphyria, Congenital Erythropoietic 48
823 ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48
824 ATY042 Atypical Chronic Myeloid Leukemia 48
825 C3D001 C3 Deficiency 48
826 BCL002 B Cell Deficiency 48
827 c GLY005 Glycogen Storage Disease Vi 48
828 CMP004 Complement Factor I Deficiency 47
829 CTN014 Cutaneous Mastocytosis 47
830 c GLY011 Glycogen Storage Disease Vii 47
831 NTR005 Nutritional Deficiency Disease 47
832 RTC009 Reticulum Cell Sarcoma 47
833 c HMN021 Human T-Cell Leukemia Virus Type 1 47
834 PLS009 Plasma Cell Neoplasm 47
835 P DYS026 Dysfibrinogenemia 47
836 INT054 Intraocular Lymphoma 47
837 P AFB001 Afibrinogenemia 46
838 P TCL004 T-Cell Leukemia 46
839 FCT005 Factor Xiii Deficiency 46
840 MYD002 Myd88 Deficiency 46
841 PRR002 Pure Red-Cell Aplasia 46
842 SPL012 Splenic Disease 46
843 HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 46
844 CHR563 Chronic Eosinophilic Leukemia 46
845 PRL017 Prolymphocytic Leukemia 46
846 GDS001 Good Syndrome 46
847 CNG028 Congenital Hypoplastic Anemia 46
848 c FLL041 Follicular Lymphoma 1 46
849 MYL013 Myeloperoxidase Deficiency 46
850 RDD003 Riddle Syndrome 45
851 HYP088 Hyper-Igd Syndrome 45
852 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 45
853 LYM012 Lymphoplasmacytic Lymphoma 45
854 RCH001 Richter's Syndrome 45
855 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 45
856 P ERY048 Erythrocytosis, Familial, 2 44
857 SPL004 Splenic Marginal Zone Lymphoma 44
858 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 44
859 MNC006 Monoclonal Gammopathy of Uncertain Significance 43
860 GLT007 Glutathione Synthetase Deficiency 43
861 AGG002 Aggressive Systemic Mastocytosis 43
862 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 43
863 IRN002 Iron Metabolism Disease 42
864 LGH004 Light Chain Deposition Disease 42
865 HST016 Histiocytic Sarcoma 42
866 c HMN022 Human T-Cell Leukemia Virus Type 2 41
867 CMP042 Complement Factor H Deficiency 41
868 ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 41
869 DFF001 Diffuse Cutaneous Mastocytosis 41
870 c HRD012 Hereditary Elliptocytosis 41
871 MCR225 Macrophage Activation Syndrome 40
872 PRM163 Primary Mediastinal Large B-Cell Lymphoma 40
873 HNZ001 Heinz Body Anemia 39
874 FLL013 Follicular Dendritic Cell Sarcoma 39
875 c GLY016 Glycogen Storage Disease Ib 39
876 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 38
877 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 38
878 INT221 Intravascular Large B-Cell Lymphoma 38
879 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 38
880 CMP001 Composite Lymphoma 37
881 SVR006 Severe Combined Immunodeficiency Due to Ada Deficiency 37
882 SHW001 Shwartzman Phenomenon 37
883 SVR029 Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive 37
884 c DYS156 Dyserythropoietic Anemia, Congenital, Type Ia 36
885 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 36
886 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 36
887 c LYM106 Lymphoproliferative Syndrome 1 36
888 ACQ017 Acquired Von Willebrand Syndrome 36
889 ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 36
890 XLN003 X-Linked Sideroblastic Anemia with Ataxia 36
891 SLT001 Solitary Osseous Plasmacytoma 36
892 OST008 Osteosclerotic Myeloma 35
893 NTR006 Neutrophil Immunodeficiency Syndrome 35
894 MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 35
895 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 35
896 MST001 Mast-Cell Sarcoma 35
897 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 35
898 NDL020 Nodal Marginal Zone B-Cell Lymphoma 35
899 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 35
900 AGM004 Agammaglobulinemia, Non-Bruton Type 34
901 IMM068 Immunodeficiency 8 34
902 c DYS165 Dysfibrinogenemia, Congenital 34
903 ACT177 Acute Basophilic Leukemia 33
904 FCT016 Factor V and Factor Viii, Combined Deficiency of 33
905 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 33
906 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 33
907 c ATM030 Autoimmune Lymphoproliferative Syndrome, Type Ii 33
908 c GLY057 Glycogen Storage Disease X 33
909 c GLY023 Glycogen Storage Disease Type 0 33
910 FTL004 Fetal Erythroblastosis 32
911 FLT009 Folate Malabsorption, Hereditary 32
912 VSC008 Vascular Hemostatic Disease 32
913 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 32
914 MGL016 Megaloblastic Anemia-1, Finnish Type 32
915 c DMN017 Diamond-Blackfan Anemia 10 32
916 IMM095 Immunodeficiency 35 31
917 RFR002 Refractory Hairy Cell Leukemia 31
918 c GLY044 Glycogen Storage Disease Ixc 31
919 IMM143 Immunodeficiency 48 30
920 c DMN024 Diamond-Blackfan Anemia 7 30
921 NTR036 Neutropenia, Severe Congenital, X-Linked 30
922 FLS001 Fils Syndrome 30
923 IMM071 Immunodeficiency 12 30
924 c DMN006 Diamond-Blackfan Anemia 3 30
925 IMM063 Immunodeficiency 15 30
926 c FNC024 Fanconi Anemia, Complementation Group D1 30
927 c DMN018 Diamond-Blackfan Anemia 5 30
928 IMM077 Immunodeficiency 20 30
929 IMM070 Immunodeficiency 13 30
930 c GLY042 Glycogen Storage Disease Xi 30
931 c DMN021 Diamond-Blackfan Anemia 6 30
932 IMM076 Immunodeficiency 24 29
933 c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 29
934 c DMN019 Diamond-Blackfan Anemia 4 29
935 CD8002 Cd8 Deficiency, Familial 29
936 IMM075 Immunodeficiency 22 29
937 IMM120 Immunodeficiency 40 28
938 IMM101 Immunodeficiency 38 28
939 c ACT219 Acute Myeloid Leukemia, Flt3-Related 28
940 c DMN020 Diamond-Blackfan Anemia 8 28
941 c DMN029 Diamond-Blackfan Anemia 11 28
942 c DYS170 Dyserythropoietic Anemia, Congenital, Type Ii 28
943 c DMN028 Diamond-Blackfan Anemia 12 28
944 GLT005 Glutamate Formiminotransferase Deficiency 28
945 CNG016 Congenital Intrinsic Factor Deficiency 28
946 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 27
947 c DMN022 Diamond-Blackfan Anemia 9 27
948 PLM049 Plummer Vinson Syndrome 27
949 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 27
950 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 27
951 SCD002 Scid, Autosomal Recessive, T-Negative/b-Positive Type 27
952 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
953 EPT007 Epithelial Malignant Thymoma 27
954 CTN027 Cutaneous Mastocytoma 27
955 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 27
956 IMM144 Immunodeficiency 11a 26
957 PLY112 Polyarteritis Nodosa, Childhood-Onset 26
958 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 26
959 STN012 Sting-Associated Vasculopathy, Infantile-Onset 26
960 c GLY009 Glycogen Storage Disease Xv 26
961 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 26
962 IMM134 Immunodeficiency, Common Variable, 13 26
963 c LKM004 Leukemia, B-Cell, Chronic 26
964 IMM097 Immunodeficiency 28, Mycobacteriosis 26
965 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
966 c DYS167 Dyserythropoietic Anemia, Congenital, Type Iii 25
967 HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 25
968 ASP026 Asplenia, Isolated Congenital 25
969 c GLY017 Glycogen Storage Disease Ic 25
970 NTR011 Neutrophil-Specific Granule Deficiency 25
971 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 25
972 IMM079 Immunodeficiency, Common Variable, 11 25
973 c ELL008 Elliptocytosis-2 24
974 HGH020 High Molecular Weight Kininogen Deficiency 24
975 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 24
976 IMM118 Immunodeficiency 42 24
977 PRM133 Primary Pulmonary Lymphoma 24
978 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 24
979 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
980 ACQ016 Acquired Pure Red Cell Aplasia 24
981 c GLY059 Glycogen Storage Disease Xiii 24
982 PRD001 Predominantly Cortical Thymoma 24
983 c ELL006 Elliptocytosis 3 24
984 HML012 Hemolytic Anemia Due to Hexokinase Deficiency 23
985 IMM084 Immunodeficiency 17, Cd3 Gamma Deficient 23
986 RHD001 Rh Deficiency Syndrome 23
987 c GLY043 Glycogen Storage Disease Xii 23
988 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 23
989 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 23
990 IMM117 Immunodeficiency by Defective Expression of Hla Class 1 23
991 IMM135 Immunodeficiency 46 23
992 P ELL007 Elliptocytosis-1 23
993 PRP038 Properdin Deficiency, X-Linked 22
994 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 22
995 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 22
996 c DMN040 Diamond-Blackfan Anemia 16 22
997 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 22
998 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 22
999 c DMN005 Diamond-Blackfan Anemia 2 22
1000 c LKM005 Leukemia, T-Cell, Chronic 21
1001 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 21
1002 c ATS229 Autosomal Recessive Lymphoproliferative Disease 21
1003 c DMN030 Diamond-Blackfan Anemia 13 21
1004 IMM067 Immunodeficiency 7, Tcr-Alpha/beta Deficient 21
1005 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 21
1006 IMM093 Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant 20
1007 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 20
1008 IMM057 Immunodeficiency Due to Ficolin 3 Deficiency 20
1009 ERY044 Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency 20
1010 c GLY006 Glycogen Storage Disease Viii 20
1011 TCL014 T-Cell Immunodeficiency, Recurrent Infections, Autoimmunity, and Cardiac Malformations 20
1012 c DMN039 Diamond-Blackfan Anemia 17 19
1013 IMM110 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 19
1014 HSH001 Hashimoto-Pritzker Syndrome 19
1015 BSP001 Basophil Adenoma 19
1016 ACT176 Acute Panmyelosis with Myelofibrosis 18
1017 IMM086 Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant 18
1018 CLS052 Classic Hairy Cell Leukemia 18
1019 ALK017 Alk-Positive Large B-Cell Lymphoma 18
1020 IMM091 Immunodeficiency 27b, Mycobacteriosis, Ad 18
1021 RFR001 Refractory Plasma Cell Neoplasm 18
1022 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 18
1023 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 18
1024 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 17
1025 MSP001 Masp2 Deficiency 17
1026 IMM089 Immunodeficiency 29, Mycobacteriosis 17
1027 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 17
1028 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 17
1029 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 17
1030 c ERY031 Erythrocytosis, Familial, 3 17
1031 ACT179 Acute Myeloid Leukemia with 11q23 Abnormalities 17
1032 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 17
1033 c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 17
1034 FBR023 Fibrinogen Deficiency, Congenital 16
1035 c ERY032 Erythrocytosis, Familial, 4 16
1036 RFM002 Roifman-Chitayat Syndrome 16
1037 P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 16
1038 LYM117 Lymphocytic Hypereosinophilic Syndrome 16
1039 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 15
1040 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 15
1041 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 15
1042 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 15
1043 ERY007 Erythropoietin Polycythemia 15
1044 BSP002 Basophilic Carcinoma 15
1045 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 14
1046 c GLY093 Glycogen Storage Disease Ixa 14
1047 PRM165 Primary Plasmacytoma of the Bone 14
1048 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 14
1049 WLD007 Waldenstroem's Macroglobulinemia 13
1050 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 13
1051 c GLY001 Glycogen Storage Disease Ix 13
1052 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 13
1053 c HMN023 Human T-Cell Leukemia Virus Type 3 13
1054 HYD045 Hydroa Vacciniforme-Like Lymphoma 12
1055 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 12
1056 c PRK077 Prkcd-Related Autoimmune Lymphoproliferative Syndrome 11
1057 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 11
1058 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 11
1059 c ATM027 Autoimmune Lymphoproliferative Syndrome, Type 0 11
1060 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 11
1061 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 10
1062 c RPS005 Rps19-Related Diamond-Blackfan Anemia 10
1063 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 10
1064 ALK014 Aleukemic Mast Cell Leukemia 10
1065 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 10
1066 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 10
1067 NKD001 Nik Deficiency 9
1068 c RPL003 Rpl5-Related Diamond-Blackfan Anemia 9
1069 c RPS003 Rps10-Related Diamond-Blackfan Anemia 9
1070 c RPS006 Rps24-Related Diamond-Blackfan Anemia 9
1071 c RPS007 Rps26-Related Diamond-Blackfan Anemia 9
1072 HGH031 High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement 9
1073 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 8
1074 IMM049 Immunodeficiency Due to Selective Anti-Polysaccharide Antibody Deficiency 8
1075 c RPL001 Rpl11-Related Diamond-Blackfan Anemia 8
1076 c RPL005 Rpl15-Related Diamond-Blackfan Anemia 8
1077 c RPL002 Rpl35a-Related Diamond-Blackfan Anemia 8
1078 c RPS004 Rps17-Related Diamond-Blackfan Anemia 8
1079 c RPS008 Rps7-Related Diamond-Blackfan Anemia 8
1080 INT035 Intrapelvic Lymph Node Leukemic Reticuloendotheliosis 8
1081 PRM148 Primary Lymphoma of the Conjunctiva 7
1082 c CSP002 Casp10-Related Autoimmune Lymphoproliferative Syndrome 7
1083 c FSR002 Fas-Related Autoimmune Lymphoproliferative Syndrome 7
1084 c FSL002 Faslg-Related Autoimmune Lymphoproliferative Syndrome 7
1085 CLS019 Classic Mast Cell Leukemia 7
1086 CVR004 Cavernous Hemangioma of Colon 7
1087 c ACT220 Acute Myeloid Leukemia, Kit-Related 7
1088 c NPM001 Npm1-Related Acute Myeloid Leukemia 7
1089 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 6
1090 c GT1008 Gata1-Related Diamond-Blackfan Anemia 6
1091 c RPL004 Rpl26-Related Diamond-Blackfan Anemia 6
1092 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 6
1093 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1094 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 6
1095 c IGH002 Igh-Related Multiple Myeloma 5
1096 14Q006 14q32 Duplication Syndrome 5
1097 PRM142 Primary Oculocerebral Lymphoma 5
1098 c FGR001 Fga-Related Congenital Afibrinogenemia 5
1099 c FGB001 Fgb-Related Congenital Afibrinogenemia 5
1100 c FGG001 Fgg-Related Congenital Afibrinogenemia 5
1101 LYM096 Lymphoadenopathic Mastocytosis with Eosinophilia 4
1102 ANT036 Anti-Hla Hyperimmunization 3
1103 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 3
1104 VSC006 Vascular Cancer 52
1105 HYD038 Hydrops Fetalis, Nonimmune 39
1106 TWN001 Twin-to-Twin Transfusion Syndrome 46
1107 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 29
1108 SCH028 Schlegelberger Grote Syndrome 5
1109 MGK001 Megakaryocytic Leukemia 58
1110 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 30
1111 P ATX030 Ataxia-Telangiectasia 78
1112 MNT001 Mantle Cell Lymphoma 72
1113 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
1114 c JVN004 Juvenile Myelomonocytic Leukemia 69
1115 P CRB042 Cerebellar Ataxia 69
1116 CMM004 Common Variable Immunodeficiency 68
1117 P NJM001 Nijmegen Breakage Syndrome 68
1118 BRK010 Burkitt Lymphoma 68
1119 MYC006 Mycosis Fungoides 67
1120 P DYS007 Dyskeratosis Congenita 66
1121 P LKM068 Leukemia, Chronic Myeloid, Somatic 64
1122 P VLC001 Velocardiofacial Syndrome 64
1123 P OST001 Osteopetrosis 63
1124 P WLD002 Waldenstrom Macroglobulinemia 63
1125 c LKM062 Leukemia, Acute Lymphoblastic 63
1126 P INF037 Inflammatory Bowel Disease 62
1127 BLM001 Bloom Syndrome 61
1128 CNC002 Cinca Syndrome 61
1129 P FML161 Familial Mediterranean Fever, Ar 61
1130 P LYM026 Lymphoblastic Leukemia 60
1131 VNW001 Von Willebrand's Disease 60
1132 P NPH012 Nephrotic Syndrome 59
1133 DFF005 Diffuse Large B-Cell Lymphoma 58
1134 P CHR285 Chronic Myelomonocytic Leukemia 58
1135 MYL031 Myeloproliferative Neoplasm 57
1136 SVR066 Severe Combined Immunodeficiency, X-Linked 57
1137 PRD019 Periodic Fever, Familial 56
1138 P AGM005 Agammaglobulinemia, X-Linked 1 56
1139 P ANP001 Anaplastic Large Cell Lymphoma 56
1140 NTH001 Netherton Syndrome 55
1141 IMM111 Immunodeficiency, X-Linked, with Hyper-Igm 55
1142 HRY003 Hairy Cell Leukemia 55
1143 PRM042 Primary Effusion Lymphoma 54
1144 BRT005 Barth Syndrome 53
1145 PST046 Post-Transplant Lymphoproliferative Disease 52
1146 EPD001 Epidermodysplasia Verruciformis 52
1147 c TCL005 T-Cell Prolymphocytic Leukemia 51
1148 MRG003 Marginal Zone B-Cell Lymphoma 51
1149 P FNC043 Fanconi Anemia, Complementation Group E 51
1150 LKC005 Leukocyte Adhesion Deficiency, Type Iii 51
1151 P TRC086 Trichohepatoenteric Syndrome 1 51
1152 P FML052 Familial Cold Autoinflammatory Syndrome 50
1153 ATR002 Atransferrinemia 49
1154 IMM104 Immunodeficiency with Hyper-Igm, Type 2 49
1155 c LKM060 Leukemia, Acute Lymphoblastic 3 49
1156 PPL049 Papillon-Lefevre Syndrome 49
1157 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 48
1158 MYL003 Myeloid Sarcoma 47
1159 ERY045 Erythrocytosis, Somatic 47
1160 LKM067 Leukemia, Acute Promyelocytic, Somatic 47
1161 LYM104 Lymphoma, Malt, Somatic 47
1162 PLS025 Plasmablastic Lymphoma 46
1163 LYM051 Lymphomatoid Granulomatosis 46
1164 P HRP009 Herpes Simplex Encephalitis 46
1165 MYL004 Myelodysplastic Myeloproliferative Cancer 46
1166 CLD007 Cold Agglutinin Disease 46
1167 c ATS308 Autosomal Dominant Cerebellar Ataxia 46
1168 VCS001 Vici Syndrome 46
1169 IMM105 Immunodeficiency with Hyper-Igm, Type 3 46
1170 c ACT020 Acute T Cell Leukemia 45
1171 IRK001 Irak4 Deficiency 44
1172 CHR286 Chronic Neutrophilic Leukemia 44
1173 TCL002 T-Cell Large Granular Lymphocyte Leukemia 43
1174 ANG046 Angioimmunoblastic T-Cell Lymphoma 43
1175 IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42
1176 BRL007 Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 42
1177 P BCL005 B Cell Prolymphocytic Leukemia 42
1178 c OST131 Osteopetrosis, Autosomal Dominant 2 42
1179 PKL001 Poikiloderma with Neutropenia 42
1180 ACT200 Acute Monoblastic Leukemia 42
1181 c INF086 Inflammatory Bowel Disease 3 41
1182 PLS016 Plasma Cell Leukemia 41
1183 c INF087 Inflammatory Bowel Disease 4 41
1184 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41
1185 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 40
1186 MTR008 Mature B-Cell Neoplasm 40
1187 CLL014 Cll/sll 40
1188 LYM052 Lymphomatoid Papulosis 40
1189 c PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 40
1190 IMM131 Immunodeficiency with Hyper-Igm, Type 4 40
1191 SVR033 Severe Combined Immunodeficiency, B Cell-Negative 39
1192 HPT070 Hepatosplenic T-Cell Lymphoma 39
1193 IRN004 Iron-Refractory Iron Deficiency Anemia 39
1194 SVR031 Severe Combined Immunodeficiency, Athabascan Type 38
1195 c PSR021 Psoriasis 14, Pustular 38
1196 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
1197 ACT113 Acute Myeloblastic Leukemia with Maturation 37
1198 c INF095 Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 37
1199 AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 37
1200 LNG004 Langerhans Cell Sarcoma 37
1201 c NPH055 Nephrotic Syndrome, Type 1 36
1202 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1203 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 36
1204 c NPH054 Nephrotic Syndrome, Type 3 36
1205 INT259 Interleukin 1 Receptor Antagonist Deficiency 36
1206 c OST129 Osteopetrosis, Autosomal Recessive 2 36
1207 P PST059 Pustular Psoriasis 36
1208 IMM065 Immunodeficiency 10 36
1209 c FML015 Familial Nephrotic Syndrome 36
1210 IMM015 Immune Defect Due to Absence of Thymus 36
1211 P 8P1002 8p11 Myeloproliferative Syndrome 35
1212 c INF089 Inflammatory Bowel Disease 6 35
1213 IMM080 Immunodeficiency 23 35
1214 c NPH072 Nephrotic Syndrome, Type 7 34
1215 MTH021 Methylmalonic Acidemia with Homocystinuria 34
1216 IMM066 Immunodeficiency 9 34
1217 c TRC078 Trichohepatoenteric Syndrome 2 34
1218 c MYL058 Myeloproliferative Syndrome, Transient 34
1219 TRN030 Transient Erythroblastopenia of Childhood 34
1220 IMM064 Immunodeficiency, Common Variable, 10 33
1221 c INF092 Inflammatory Bowel Disease 9 33
1222 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 33
1223 c FML253 Familial Cold Autoinflammatory Syndrome 3 33
1224 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 33
1225 c INF078 Inflammatory Bowel Disease 2 32
1226 c INF088 Inflammatory Bowel Disease 5 32
1227 IMM096 Immunodeficiency 30 31
1228 IMM074 Immunodeficiency 16 31
1229 c BCL013 B-Cell Adult Acute Lymphocytic Leukemia 30
1230 IMM099 Immunodeficiency 33 30
1231 c MCR161 Macroglobulinemia, Waldenstrom 1 30
1232 P PRC017 Precursor Lymphoblastic Lymphoma/leukemia 30
1233 c FML117 Familial Cold Autoinflammatory Syndrome 2 29
1234 RFM001 Roifman Syndrome 29
1235 c ATS307 Autosomal Recessive Cerebellar Ataxia 29
1236 ACT114 Acute Myeloblastic Leukemia Without Maturation 29
1237 c INF075 Inflammatory Bowel Disease 16 29
1238 c NPH049 Nephrotic Syndrome, Type 2 29
1239 c OST134 Osteopetrosis, Autosomal Recessive 6 28
1240 c OST125 Osteopetrosis, Autosomal Dominant 1 28
1241 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 28
1242 IMM109 Immunodeficiency with Hyper Igm, Type 5 28
1243 MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 28
1244 UNC014 Unicentric Castleman Disease 28
1245 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 27
1246 c INF090 Inflammatory Bowel Disease 7 27
1247 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 27
1248 c NPH070 Nephrotic Syndrome, Type 6 27
1249 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 27
1250 PSL001 Pasli Disease 27
1251 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 27
1252 PRM151 Primary Bone Lymphoma 26
1253 KPP001 Kappa Light Chain Deficiency 26
1254 c HRP023 Herpes Simplex Encephalitis 1 26
1255 P RNL066 Renal Tubular Acidosis, Distal, Ad 26
1256 c OST136 Osteopetrosis, Autosomal Recessive 7 26
1257 BNM011 Bone Marrow Failure Syndrome 2 26
1258 c INF077 Inflammatory Bowel Disease 19 26
1259 c NPH073 Nephrotic Syndrome, Type 8 26
1260 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 26
1261 ERY051 Erythroleukemia, Familial 25
1262 IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 25
1263 c NPH047 Nephrotic Syndrome, Type 4 25
1264 c OST120 Osteopetrosis, Autosomal Recessive 5 25
1265 c ALP087 Alpha-Heavy Chain Disease 25
1266 c INF068 Inflammatory Bowel Disease 13 24
1267 c OST137 Osteopetrosis, Autosomal Recessive 4 24
1268 c OST106 Osteopetrosis, Autosomal Recessive 8 24
1269 c INF094 Inflammatory Bowel Disease 28, Early Onset, Autosomal Recessive 24
1270 IMM069 Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related 24
1271 c RNL067 Renal Tubular Acidosis, Distal, Ar 23
1272 c INF072 Inflammatory Bowel Disease 11 23
1273 c INF067 Inflammatory Bowel Disease 10 23
1274 c NPH074 Nephrotic Syndrome, Type 9 23
1275 c INF073 Inflammatory Bowel Disease 12 23
1276 INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 23
1277 c INF091 Inflammatory Bowel Disease 8 23
1278 c INF093 Inflammatory Bowel Disease 14 23
1279 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 23
1280 c NPH096 Nephrotic Syndrome, Type 12 23
1281 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
1282 c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 22
1283 c FML162 Familial Mediterranean Fever, Ad 22
1284 c PRC004 Precursor B Lymphoblastic Lymphoma/leukemia 22
1285 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 22
1286 c LKM055 Leukemia, Acute Lymphoblastic 2 22
1287 c INF079 Inflammatory Bowel Disease 20 22
1288 c NPH076 Nephrotic Syndrome, Type 10 21
1289 GRN032 Granulomatous Slack Skin Disease 21
1290 c HRP030 Herpes Simplex Encephalitis 7 21
1291 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1292 c INF074 Inflammatory Bowel Disease 15 20
1293 IMM087 Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive 20
1294 c INF083 Inflammatory Bowel Disease 24 20
1295 c NPH094 Nephrotic Syndrome 14 20
1296 c INF076 Inflammatory Bowel Disease 18 20
1297 c HRP028 Herpes Simplex Encephalitis 3 20
1298 c HRP024 Herpes Simplex Encephalitis 2 20
1299 c NPH095 Nephrotic Syndrome, Type 11 20
1300 ECT044 Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 20
1301 IMM098 Immunodeficiency 34, Mycobacteriosis, X-Linked 19
1302 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 19
1303 c INF084 Inflammatory Bowel Disease 26 19
1304 IMM090 Immunodeficiency 27a, Mycobacteriosis, Ar 19
1305 c MCR162 Macroglobulinemia, Waldenstrom 2 19
1306 c NPH092 Nephrotic Syndrome 15 19
1307 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 18
1308 c INF082 Inflammatory Bowel Disease 23 18
1309 LCH010 Lichtenstein Syndrome 18
1310 c INF081 Inflammatory Bowel Disease 22 18
1311 c HRD074 Hereditary Nephrotic Syndromes 18
1312 c INF080 Inflammatory Bowel Disease 21 18
1313 c NPH093 Nephrotic Syndrome, Type 13 18
1314 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1315 c INF085 Inflammatory Bowel Disease 27 17
1316 c ANP011 Anaplastic Small Cell Lymphoma 17
1317 c PSR022 Psoriasis 15, Pustular 16
1318 P FML257 Familial Pseudohyperkalemia 16
1319 ISL032 Isolated Bone Marrow Mastocytosis 16
1320 WDS003 Woods-Black-Norbury Syndrome 15
1321 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 15
1322 c AGM002 Agammaglobulinemia X-Linked Type 2 15
1323 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 15
1324 c VLC003 Velocardiofacial Syndrome 2 13
1325 SLC003 Selective Igm Deficiency Disease 13
1326 P TCL017 T-Cell Acute Lymphocytic Leukemia-1 12
1327 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 12
1328 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 11
1329 NTR010 Neutropenia Monocytopenia Deafness 10
1330 c PLK001 Plekhm1-Related Autosomal Recessive Osteopetrosis 10
1331 c FML136 Familial Mediterranean Fever Type 1 10
1332 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 10
1333 c FML137 Familial Mediterranean Fever Type 2 10
1334 c CLC009 Clcn7-Related Osteopetrosis 9
1335 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 9
1336 c SYN013 Syne1-Related Autosomal Recessive Cerebellar Ataxia 9
1337 c SNX001 Snx10-Related Autosomal Recessive Osteopetrosis 9
1338 c HRD075 Hereditary Nephrotic Syndromes, Autosomal Dominant 8
1339 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 8
1340 c HRD076 Hereditary Nephrotic Syndromes, Autosomal Recessive 8
1341 MYL061 Myeloid Neoplasms Associated with Pdgfrb Rearrangement 7
1342 c NPH090 Nephrotic Syndrome, Kank4-Related 7
1343 c LRP002 Lrp5-Related Autosomal Dominant Osteopetrosis 7
1344 c OST068 Ostm1-Related Autosomal Recessive Osteopetrosis 7
1345 c TCR002 Tcirg1-Related Autosomal Recessive Osteopetrosis 7
1346 c TNF005 Tnfsf11-Related Autosomal Recessive Osteopetrosis 7
1347 c INT107 Intermediate Autosomal Osteopetrosis 7
1348 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
1349 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 7
1350 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 7
1351 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 6
1352 c INF060 Infantile Malignant Clcn7-Related Autosomal Recessive Osteopetrosis 6
1353 MYL065 Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement 6
1354 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 6
1355 c ACT221 Acute Myeloid Leukemia, Somatic Dnmt3a-Related 6
1356 MYL066 Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement 6
1357 LMR001 Lemierre's Syndrome 43
1358 BLS007 Blastic Plasmacytoid Dendritic Cell 41
1359 P APL001 Aplastic Anemia 74
1360 HDG012 Hodgkin Lymphoma 73
1361 OMN001 Omenn Syndrome 68
1362 P HMP002 Hemophagocytic Lymphohistiocytosis 64
1363 P BCL006 B-Cell Lymphomas 64
1364 LSC001 Lesch-Nyhan Syndrome 62
1365 ABT001 Abetalipoproteinemia 59
1366 c ADL017 Adult T-Cell Leukemia 58
1367 MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 57
1368 P ACR001 Aicardi-Goutieres Syndrome 56
1369 LTT002 Letterer-Siwe Disease 56
1370 P GRS003 Griscelli Syndrome 54
1371 SZR001 Sezary's Disease 53
1372 c GRS014 Griscelli Syndrome, Type 2 53
1373 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 52
1374 P CNT005 Central Nervous System Lymphoma 52
1375 PMS001 Poems Syndrome 51
1376 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 51
1377 BNM001 Bone Marrow Cancer 51
1378 CHR003 Cherubism 51
1379 MGL001 Megaloblastic Anemia 49
1380 c GRS013 Griscelli Syndrome, Type 1 48
1381 c PRM226 Primary Central Nervous System Lymphoma 48
1382 SCH016 Schimke Immunoosseous Dysplasia 47
1383 FLT011 Felty Syndrome 46
1384 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 46
1385 NTR003 Natural Killer Cell Leukemia 46
1386 HNC001 Henoch-Schoenlein Purpura 44
1387 PRS127 Pearson Marrow-Pancreas Syndrome 43
1388 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 43
1389 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1390 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 41
1391 c ATM046 Autoimmune Lymphoproliferative Syndrome, Type Iib 38
1392 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 37
1393 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 37
1394 c GRS012 Griscelli Syndrome, Type 3 37
1395 c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 36
1396 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 36
1397 IMM078 Immunodeficiency 21 36
1398 MJD001 Majeed Syndrome 35
1399 c ACR091 Aicardi-Goutieres Syndrome 4 35
1400 ENT008 Enteropathy-Associated T-Cell Lymphoma 35
1401 c MNT149 Mental Retardation, X-Linked 3 33
1402 c ACR088 Aicardi-Goutieres Syndrome 3 33
1403 c ACR090 Aicardi-Goutieres Syndrome 2 33
1404 ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 32
1405 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 32
1406 BNM010 Bone Marrow Failure Syndrome 1 32
1407 EMB016 Emberger Syndrome 31
1408 c ACR092 Aicardi-Goutieres Syndrome 5 31
1409 c ACR081 Aicardi-Goutieres Syndrome 6 29
1410 IMM107 Immunodeficiency 31c, Autosomal Dominant 29
1411 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 29
1412 c MNT198 Mental Retardation, X-Linked 98 29
1413 c MNT248 Mental Retardation, X-Linked 102 25
1414 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 25
1415 c ACR084 Aicardi-Goutieres Syndrome 7 24
1416 NTR029 Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect 23
1417 c MNT249 Mental Retardation, X-Linked 12/35 22
1418 c MNT223 Mental Retardation, X-Linked 100 21
1419 c MNT224 Mental Retardation, X-Linked 101 21
1420 c XLN042 X-Linked Mental Retardation 21 21
1421 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
1422 c MNT203 Mental Retardation, X-Linked 30/47 20
1423 c MNT194 Mental Retardation, X-Linked 50 20
1424 c MNT196 Mental Retardation, X-Linked 92 20
1425 c MNT292 Mental Retardation, X-Linked 1/78 19
1426 c MNT195 Mental Retardation, X-Linked 96 19
1427 c MNT218 Mental Retardation, X-Linked 99 19
1428 c MNT288 Mental Retardation, X-Linked 49/15 19
1429 c MNT267 Mental Retardation, X-Linked 104 19
1430 P MNT291 Mental Retardation, X-Linked 9/44 18
1431 c MNT204 Mental Retardation, X-Linked 23 18
1432 c MNT271 Mental Retardation, X-Linked 61 17
1433 c MNT200 Mental Retardation, X-Linked 97 16
1434 c TCL008 T-Cell Lymphoma 1a 16
1435 c MNT205 Mental Retardation, X-Linked 42 15
1436 c MNT289 Mental Retardation, X-Linked 103 15
1437 c MNT202 Mental Retardation, X-Linked 53 13
1438 c MNT247 Mental Retardation, X-Linked 73 13
1439 c MNT294 Mental Retardation, X-Linked 106 13
1440 c NLG002 Nlgn4x-Related X-Linked Mental Retardation 7
1441 c ADR045 Adar-Related Aicardi-Goutieres Syndrome 7
1442 c IFH001 Ifih1-Related Aicardi-Goutieres Syndrome 7
1443 c FGD001 Fgd1-Related X-Linked Mental Retardation 7
1444 c SYP006 Syp-Related X-Linked Mental Retardation 7
1445 c ZNF002 Znf674-Related X-Linked Mental Retardation 7
1446 c APL021 Aplastic Anemia, Ifng-Related 5
1447 c APL031 Aplastic Anemia, Prf1-Related 5
1448 c CHR090 Chronic Lymphocytic Leukemia 75
1449 c LKM061 Leukemia, Acute Myeloid 74
1450 MCK007 Muckle-Wells Syndrome 63
1451 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63
1452 SHW002 Shwachman-Diamond Syndrome 61
1453 P CND004 Candidiasis 56
1454 P ACT074 Acute Lymphocytic Leukemia 55
1455 c ADL052 Adult Acute Lymphocytic Leukemia 42
1456 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 42
1457 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 40
1458 RVS001 Revesz Syndrome 40
1459 c CND026 Candidiasis, Familial, 2, Autosomal Recessive 33
1460 c CND025 Candidiasis, Familial, 8 26
1461 c LKM056 Leukemia, Chronic Lymphocytic 2 24
1462 c CND028 Candidiasis, Familial, 4, Autosomal Recessive 22
1463 c LKM050 Leukemia, Chronic Lymphocytic 1 22
1464 c LKM051 Leukemia, Chronic Lymphocytic 3 22
1465 c CND031 Candidiasis, Familial, 9 21
1466 c CND024 Candidiasis, Familial, 6, Autosomal Dominant 19
1467 c FML334 Familial Candidiasis 16
1468 c CND027 Candidiasis, Familial, 3 15
1469 c FML177 Familial Candidiasis 5 15
1470 MSM014 Mismatch Repair Cancer Syndrome 59



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