Blood Diseases Category (2308 diseases)


Including: Blood, Hematological, Arythrocytes, Hemoglobin, Thalassemia, Clotting
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# Family MCID Name MIFTS
1 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 49
2 ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 25
3 c BLD146 Blood Group, P1pk System 24
4 GHS005 Ghosal Hematodiaphyseal Dysplasia 42
5 DYS127 Dyserythropoietic Anemia and Thrombocytopenia 14
6 THR016 Thrombophlebitis 49
7 c THR102 Thrombocytopenia 5 30
8 c THR090 Thrombocythemia 1 53
9 c THR037 Thrombocytopenia 2 37
10 BLD141 Blood Group--Kell System 22
11 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38
12 c RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 25
13 INT078 Intracranial Thrombosis 48
14 BLD160 Blood Group, John Milton Hagen System 11
15 THR024 Thrombosis 55
16 c THR048 Thrombocytopenia 4 30
17 c THR111 Thrombocytopenia 3 29
18 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
19 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 26
20 c THR125 Thrombocytopenia 7 26
21 c BLD174 Bleeding Disorder, Platelet-Type, 24 24
22 BLD167 Blood Group, Kidd System 16
23 SGT001 Sagittal Sinus Thrombosis 35
24 c GLN012 Glanzmann Thrombasthenia 2 29
25 FCT013 Factor V Leiden Thrombophilia 27
26 BLD176 Blood Group, Sid System 25
27 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 25
28 P PHC014 Phocomelia 24
29 c DKP001 Dk Phocomelia Syndrome 24
30 c HMT005 Hematocrit/hemoglobin Quantitative Trait Locus 1 8
31 P HMT007 Hematocrit/hemoglobin Quantitative Trait Locus 3 7
32 c HMT006 Hematocrit/hemoglobin Quantitative Trait Locus 2 6
33 HRD163 Hereditary Antithrombin Deficiency Type 2 5
34 P ESS003 Essential Thrombocythemia 70
35 c THR086 Thrombocythemia 3 29
36 HMT001 Hematocele of Tunica Vaginalis Testis 28
37 BLD159 Blood Group, Junior System 13
38 PRN017 Perianal Hematoma 29
39 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 27
40 BLC004 Blackwater Fever 25
41 BLD155 Blood Group, Cromer System 24
42 P MCR387 Macrothrombocytopenia, Isolated, 1, Autosomal Dominant 21
43 c BLD140 Blood Group, I System 20
44 BLD165 Blood Group, Colton System 13
45 BLD166 Blood Group, Diego System 13
46 BLD158 Blood Group, Chido/rodgers System 10
47 CRN017 Coronary Thrombosis 45
48 CVR002 Cavernous Sinus Thrombosis 36
49 LTR002 Lateral Sinus Thrombosis 26
50 c BLD132 Bleeding Disorder, Platelet-Type, 21 25
51 THR116 Thrombocytopenia, Cyclic 21
52 RPH001 Raph Blood Group System 16
53 RNX001 Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies 15
54 ETV001 Etv6 Thrombocytopenia and Predisposition to Leukemia 14
55 P MNP023 Mean Platelet Volume/count Quantitative Trait Locus 2 7
56 c HRM017 Hermansky-Pudlak Syndrome 2 56
57 P PST095 Post-Thrombotic Syndrome 50
58 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 36
59 ASP030 Aspirin Resistance 26
60 c THR087 Thrombocythemia 2 25
61 P RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 23
62 c THR127 Thrombophilia, X-Linked, Due to Factor Viii Defect 18
63 HMG031 Hemoglobin, High Altitude Adaptation 16
64 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 16
65 P BLD175 Blood Group, Rh System 13
66 P HML033 Hemolytic Uremic Syndrome, Atypical 1 70
67 BLD161 Blood Group, Globoside System 44
68 NNB001 Nonbacterial Thrombotic Endocarditis 37
69 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
70 c HML034 Hemolytic Uremic Syndrome, Atypical 3 27
71 c HML037 Hemolytic Uremic Syndrome, Atypical 5 26
72 c HML032 Hemolytic Uremic Syndrome, Atypical 4 26
73 c HML036 Hemolytic Uremic Syndrome, Atypical 6 25
74 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 22
75 PLT006 Platelet-Activating Factor Acetylhydrolase Deficiency 21
76 BLD171 Blood Group, Lewis System 20
77 MND006 Mondor Disease 17
78 c MCR389 Macrothrombocytopenia, Isolated, 2, Autosomal Dominant 15
79 BLD148 Blood Group, Langereis System 15
80 BLD164 Blood Group, Gerbich System 14
81 BLD163 Blood Group, Dombrock System 13
82 RDN004 Radin Blood Group Antigen 10
83 BLD144 Blood Group System, Landsteiner-Wiener 9
84 BLD151 Blood Group--Wright Antigen 9
85 HYP056 Hypoglycemia 65
86 THR035 Thrombasthenia 48
87 c HMG029 Hemoglobin Se Disease 37
88 INT076 Intracranial Sinus Thrombosis 31
89 HMM001 Hemometra 28
90 c ANK019 Ankrd26-Related Thrombocytopenia 19
91 c BLD168 Bleeding Disorder, Platelet-Type, 22 17
92 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
93 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
94 HMT019 Hematohidrosis 15
95 PRM053 Primary Release Disorder of Platelets 11
96 FCT024 Factor V Excess with Spontaneous Thrombosis 10
97 THR039 Thrombocytopenia Robin Sequence 10
98 KTZ001 Kotzot-Richter Syndrome 8
99 BLD143 Blood Group--Lke 7
100 c MNP022 Mean Platelet Volume/count Quantitative Trait Locus 1 7
101 c MNP024 Mean Platelet Volume/count Quantitative Trait Locus 3 6
102 c MNP025 Mean Platelet Volume/count Quantitative Trait Locus 4 6
103 c MNP026 Mean Platelet Volume/count Quantitative Trait Locus 5 6
104 c MNP027 Mean Platelet Volume/count Quantitative Trait Locus 6 6
105 P HRM001 Hermansky-Pudlak Syndrome 63
106 c HRM005 Hermansky-Pudlak Syndrome 1 57
107 HYP014 Hyperuricemia 50
108 c HRM006 Hermansky-Pudlak Syndrome 3 49
109 c HRM008 Hermansky-Pudlak Syndrome 5 48
110 SBL008 Sea-Blue Histiocyte Disease 45
111 c HRM007 Hermansky-Pudlak Syndrome 4 41
112 c HRM020 Hermansky-Pudlak Syndrome 10 26
113 THR112 Thrombocytopenia, Anemia, and Myelofibrosis 20
114 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 16
115 P NTR004 Neutropenia 61
116 c SVR003 Severe Congenital Neutropenia 58
117 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 55
118 VTM033 Vitamin K Deficiency Bleeding 52
119 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
120 c HRM009 Hermansky-Pudlak Syndrome 6 50
121 BBS001 Babesiosis 48
122 c HRM012 Hermansky-Pudlak Syndrome 9 46
123 c SVR107 Severe Congenital Neutropenia 3 44
124 c HRM010 Hermansky-Pudlak Syndrome 7 40
125 c HRM011 Hermansky-Pudlak Syndrome 8 38
126 c SVR106 Severe Congenital Neutropenia 5 37
127 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
128 c SVR104 Severe Congenital Neutropenia 7 31
129 c WSK002 Wiskott-Aldrich Syndrome 2 31
130 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
131 c SVR109 Severe Congenital Neutropenia 8 28
132 SPN433 Spondyloepiphyseal Dysplasia, Kondo-Fu Type 26
133 THR007 Thrombophlebitis Migrans 25
134 c SVR108 Severe Congenital Neutropenia 6 25
135 ATM012 Autoimmune Disease of Blood 25
136 c NTR045 Neutropenia, Chronic Familial 22
137 c SVR103 Severe Congenital Neutropenia 1 20
138 c ACQ053 Acquired Neutropenia 17
139 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
140 BLD177 Blood Group, Emm System 16
141 c SVR105 Severe Congenital Neutropenia 2 16
142 BLD162 Blood Group, Vel System 15
143 c ELN001 Elane-Related Neutropenia 13
144 BLD153 Blood Group--Swann System 10
145 c DNG003 Dengue Disease 69
146 P SHW006 Shwachman-Diamond Syndrome 1 68
147 TKY002 Takayasu Arteritis 64
148 GST033 Gestational Diabetes 61
149 ISC004 Ischemia 60
150 P END033 Endocarditis 57
151 HYP081 Hypolipoproteinemia 56
152 P VNS003 Venous Insufficiency 55
153 HYP037 Hyperhomocysteinemia 51
154 P DNG005 Dengue Virus 51
155 CLC001 Calciphylaxis 50
156 c HYP597 Hyperprolinemia, Type Ii 48
157 c CHR431 Chronic Venous Insufficiency 47
158 TRC012 Trichuriasis 46
159 PYR040 Pyropoikilocytosis, Hereditary 44
160 c HYP248 Hyperprolinemia, Type I 44
161 ISC015 Ischemic Colitis 41
162 P HYP111 Hyperprolinemia 40
163 c PRM225 Primary Thrombocytopenia 39
164 CRT004 Carotid Artery Thrombosis 38
165 SHW001 Shwartzman Phenomenon 38
166 HYP223 Hypoplastic Right Heart Syndrome 37
167 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 35
168 PLT015 Platelet Aggregation, Spontaneous 34
169 c SBC003 Subacute Bacterial Endocarditis 33
170 c SYN073 Syngap1-Related Intellectual Disability 32
171 c SHW007 Shwachman-Diamond Syndrome 2 28
172 CRB132 Cerebral Sinovenous Thrombosis 26
173 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 24
174 ACH007 Achenbach Syndrome 23
175 PLS032 Plasmodium Falciparum Blood Infection Level 22
176 CMP102 Complications After Hematopoietic Stem Cell Transplantation 21
177 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
178 VNS012 Venous Thoracic Outlet Syndrome 18
179 c HVP001 Hivep2-Related Intellectual Disability 18
180 FRS010 Forsythe-Wakeling Syndrome 16
181 PLT031 Platelet Membrane Fluidity 16
182 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 15
183 P PLT029 Platelet Groups--Ko System 15
184 c BCL018 Bcl11a-Related Intellectual Disability 15
185 c ATS403 Autosomal Dominant Intellectual Disability 40 14
186 WHT020 White Blood Cell Count Quantitative Trait Locus 1 14
187 DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 14
188 c ATS348 Autosomal Dominant Intellectual Disability 30 13
189 c ATS360 Autosomal Recessive Intellectual Disability 58 13
190 PLT028 Platelet Factor 3 Deficiency 13
191 PLT016 Platelet Adenylate Cyclase Activity 12
192 PLT034 Platelet Prostacyclin Receptor Defect 12
193 PLT027 Platelet Disorder, Undefined 10
194 GNT148 Genetic Hemoglobinopathy 10
195 PLT033 Platelet Signal Processing Defect 10
196 HMG030 Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain 10
197 P RRN017 Rare Intellectual Disability 10
198 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 9
199 HMG009 Hemoglobin Zurich 9
200 c WCR002 Wac-Related Intellectual Disability 9
201 ATH014 Athrombia, Essential 9
202 c WDR002 Wdr26-Related Intellectual Disability 9
203 c TRR002 Trio-Related Intellectual Disability 9
204 YTB001 Yt Blood Group Antigen 9
205 THL019 Thalassemia, Beta+, Silent Allele 8
206 PLS033 Plasma Clot Retraction Factor, Deficiency of 8
207 HMT020 Hematopoietic Stem Cell Kinetics, Control of 8
208 c PPP001 Ppp2r5d-Related Intellectual Disability 8
209 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
210 FYP001 Faye-Petersen-Ward-Carey Syndrome 7
211 TSY001 Tau Syndrome 7
212 THR115 Thrombocyte B 6
213 c BLD150 Blood Group--Ul System 5
214 BLD137 Blood Group--Ahonen 5
215 ISL157 Isolated Mesenteric Vein Thrombosis 5
216 c SCK008 Sickle Delta Beta Thalassemia 5
217 RRG024 Rare Genetic Hematologic Disease 5
218 c DDX001 Ddx3x-Related Intellectual Disability 4
219 BLD147 Blood Group--Private Systems 4
220 c PLT030 Platelet Groups--Pl System 3
221 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 3
222 GNT062 Genetic Thrombotic Microangiopathy 3
223 HRD164 Hereditary Antithrombin Deficiency Type I 3
224 RRD031 Rare Disorder Potentially Indicated for Hematopoietic Stem Cell Transplant 3
225 INH034 Inherited Hematologic Cancer-Predisposing Syndrome 3
226 AGM019 Agammaglobulinemia, X-Linked 73
227 c ART101 Aortic Valve Disease 2 71
228 c GCH015 Gaucher Disease, Type I 70
229 CMM004 Common Variable Immunodeficiency 69
230 P GCH001 Gaucher's Disease 68
231 ART016 Aortic Aneurysm 68
232 CRB039 Cerebrovascular Disease 68
233 P CHR012 Chronic Granulomatous Disease 67
234 P AMY004 Amyloidosis 66
235 P GRF003 Graft-Versus-Host Disease 65
236 AFB002 Afibrinogenemia, Congenital 65
237 HYP810 Hypereosinophilic Syndrome, Idiopathic 63
238 P THL005 Thalassemia 62
239 ANT009 Antithrombin Iii Deficiency 61
240 P HMN010 Hemangioma 60
241 P TRC086 Trichohepatoenteric Syndrome 1 59
242 c CHR285 Chronic Myelomonocytic Leukemia 59
243 FCT003 Factor X Deficiency 58
244 DNG002 Dengue Hemorrhagic Fever 58
245 c GCH017 Gaucher Disease, Type Iii 58
246 ACT250 Acute Megakaryocytic Leukemia 57
247 BRT005 Barth Syndrome 57
248 P SCK005 Sickle Cell Disease 57
249 P FNC044 Fanconi Anemia, Complementation Group C 56
250 P HYP726 Hypercalcemia, Infantile, 1 56
251 PRP082 Porphyria, Congenital Erythropoietic 56
252 PRP030 Purpura 55
253 P ANT006 Antiphospholipid Syndrome 55
254 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 55
255 P ART018 Aortic Valve Insufficiency 54
256 c THR124 Thrombotic Thrombocytopenic Purpura, Hereditary 53
257 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 53
258 c HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 53
259 MCR225 Macrophage Activation Syndrome 53
260 c GCH016 Gaucher Disease, Type Ii 52
261 BLD053 Blood Platelet Disease 51
262 c FNC028 Fanconi Anemia, Complementation Group L 50
263 P TRC087 Tricuspid Valve Disease 50
264 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 49
265 c TRC022 Tricuspid Valve Insufficiency 49
266 ANG046 Angioimmunoblastic T-Cell Lymphoma 49
267 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 48
268 c FNC048 Fanconi Anemia, Complementation Group O 48
269 TRS021 Triosephosphate Isomerase Deficiency 48
270 c CNG027 Congenital Hemolytic Anemia 48
271 CRY004 Cryoglobulinemia 48
272 P ERY033 Erythroleukemia 47
273 HYP006 Hypertensive Heart Disease 47
274 CVR006 Cavernous Hemangioma 47
275 MCR018 Microcytic Anemia 47
276 c GCH013 Gaucher Disease, Type Iiic 46
277 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 46
278 P MTH007 Methemoglobinemia 46
279 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 46
280 GLT005 Glutamate Formiminotransferase Deficiency 46
281 LYM051 Lymphomatoid Granulomatosis 46
282 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 45
283 c DMN029 Diamond-Blackfan Anemia 11 45
284 CMP064 Complement Component 3 Deficiency 44
285 PKL001 Poikiloderma with Neutropenia 44
286 IND002 Indolent Systemic Mastocytosis 44
287 MCR017 Macrocytic Anemia 44
288 FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 44
289 IMM193 Immunodeficiency 58 43
290 c LKM060 Leukemia, Acute Lymphoblastic 3 43
291 P PRP034 Purpura Fulminans 43
292 c HRD039 Hereditary Amyloidosis 42
293 c TRC078 Trichohepatoenteric Syndrome 2 42
294 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 42
295 P PRC031 Preeclampsia/eclampsia 1 41
296 FBR032 Fibromuscular Dysplasia 41
297 P VTM036 Vitamin D-Dependent Rickets 41
298 LKS001 Leukostasis 40
299 c FNC057 Fanconi Anemia, Complementation Group U 40
300 c DMN017 Diamond-Blackfan Anemia 10 40
301 P RFR008 Refractory Anemia with Excess Blasts 39
302 ESN002 Eosinophilia-Myalgia Syndrome 39
303 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 39
304 c CNG223 Congenital Methemoglobinemia 39
305 SPC026 Specific Granule Deficiency 1 38
306 c DMN020 Diamond-Blackfan Anemia 8 38
307 c SPH016 Spherocytosis, Type 4 37
308 HYP001 Hypochromic Microcytic Anemia 37
309 TRC021 Tricuspid Valve Stenosis 37
310 P ACT105 Acute Mountain Sickness 37
311 CNG017 Congenital Nonspherocytic Hemolytic Anemia 37
312 c ELL010 Elliptocytosis 1 36
313 TKN001 Takenouchi-Kosaki Syndrome 35
314 c FNC056 Fanconi Anemia, Complementation Group V 35
315 LCH001 Leech Infestation 35
316 NNT011 Neonatal Anemia 35
317 ANM001 Anemia of Prematurity 35
318 MYL002 Myelophthisic Anemia 35
319 P DMN043 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis 34
320 LKC003 Leukocyte Disease 34
321 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 33
322 IMM256 Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction 33
323 FNC063 Functional Neutrophil Defect 33
324 c ACQ047 Acquired Methemoglobinemia 33
325 MTH021 Methylmalonic Acidemia with Homocystinuria 33
326 TCK004 Tick Infestation 32
327 c DMN049 Diamond-Blackfan Anemia 20 32
328 c FNC062 Fanconi Anemia, Complementation Group S 30
329 ANH003 Anhaptoglobinemia 30
330 RHS001 Rh Isoimmunization 29
331 FBR052 Fibrinolytic Defect 29
332 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
333 GNT005 Giant Hemangioma 28
334 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 28
335 c CHR546 Chronic Mountain Sickness 28
336 c DMN019 Diamond-Blackfan Anemia 4 28
337 c VTM035 Vitamin D-Dependent Rickets, Type 3 27
338 c ATS481 Autosomal Dominant Beta Thalassemia 27
339 RFR007 Refractory Anemia with Excess Blasts in Transformation 27
340 FBR023 Fibrinogen Deficiency, Congenital 26
341 c HYP884 Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive 26
342 TWN014 Twin Anemia-Polycythemia Sequence 26
343 BLT003 Blue Toe Syndrome 26
344 c FNC061 Fanconi Anemia, Complementation Group W 25
345 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
346 HYP018 Hyperglobulinemic Purpura 25
347 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 25
348 DSS003 Disseminated Eosinophilic Collagen Disease 25
349 DCN001 Dic in Newborn 25
350 PHY001 Physiological Polycythemia 24
351 PRC051 Paracetamol Poisoning 24
352 c PRC034 Preeclampsia/eclampsia 4 24
353 HVY003 Heavy Chain Deposition Disease 24
354 c MTH083 Methemoglobinemia, Beta Type 24
355 NNS003 Non-Secretory Myeloma 24
356 BRR004 Baroreflex Failure 24
357 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
358 c DMN037 Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 23
359 HMP018 Hemophilic Arthropathy 23
360 ALG025 Alg1-Congenital Disorder of Glycosylation 23
361 ARG006 Aregenerative Anemia 23
362 c HYP871 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 23
363 PLT001 Plethora of Newborn 23
364 P HYP885 Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant 23
365 c ACQ004 Acquired Hemangioma 22
366 c ERY051 Erythroleukemia, Familial 22
367 c HYP712 Hypercalcemia, Infantile, 2 22
368 P SLF001 Sulfhemoglobinemia 21
369 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 21
370 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 21
371 c ANT041 Antiphospholipid Syndrome, Familial 21
372 DRM015 Dermoids of Cornea 21
373 c RFR015 Refractory Anemia with Excess Blasts Type 1 21
374 c VTM037 Vitamin D-Dependent Rickets Type 2b 21
375 c DMN040 Diamond-Blackfan Anemia 16 20
376 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 20
377 ADS015 Aids Wasting Syndrome 20
378 c DMN039 Diamond-Blackfan Anemia 17 20
379 21Q001 21q22.11q22.12 Microdeletion Syndrome 20
380 c DMN047 Diamond-Blackfan Anemia 18 20
381 ATY045 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 20
382 HML053 Hemolytic Anemia, Congenital, X-Linked 19
383 c MLG144 Malignant Hemangioma 19
384 NNT054 Neonatal Alloimmune Neutropenia 19
385 c DMN048 Diamond-Blackfan Anemia 19 18
386 HMP034 Hemophilia B Leyden 18
387 c CNG578 Congenital Hemangioma 18
388 c ACQ039 Acquired Purpura Fulminans 18
389 c PRM150 Primary Localized Amyloidosis 18
390 ISL085 Isolated Agammaglobulinemia 17
391 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 17
392 HYP765 Hyperbilirubinemia, Shunt, Primary 17
393 ADN084 Adenosine Deaminase, Elevated, Hemolytic Anemia Due to 17
394 UNC008 Unclassified Myelodysplastic Syndrome 15
395 LCL017 Localized Pagetoid Reticulosis 15
396 ACQ075 Acquired Factor Xiii Deficiency 15
397 c SCK049 Sickle Cell Disease and Related Diseases 15
398 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 14
399 c MTH084 Methemoglobinemia, Alpha Type 14
400 SML040 Smoldering Systemic Mastocytosis 14
401 MNC020 Monoclonal Mast Cell Activation Syndrome 14
402 c ACQ071 Acquired Hemophilia B 12
403 HHV002 Hhv-8-Associated Multicentric Castleman Disease 11
404 c PRC032 Preeclampsia/eclampsia 2 11
405 c PRC033 Preeclampsia/eclampsia 3 10
406 PLY128 Polyclonal Hyperviscosity Syndrome 9
407 c ACQ028 Acquired Secondary Polycythemia 9
408 CVR003 Cavernous Hemangioma of Face 9
409 c PSD023 Pseudo-Gaucher Disease 9
410 c ALP113 Alpha-Thalassemia and Related Disorders 8
411 ANT036 Anti-Hla Hyperimmunization 8
412 c SLF013 Sulfhemoglobinemia, Congenital 8
413 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 8
414 ISL033 Isolated Delta-Storage Pool Disease 7
415 CLL008 Cellular Phase Chronic Idiopathic Myelofibrosis 7
416 c BTT015 Beta-Thalassemia and Related Diseases 7
417 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 6
418 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
419 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 6
420 CVR005 Cavernous Hemangioma of Orbit 6
421 c PLY005 Polycythemia Due to Hypoxia 6
422 MYL077 Myeloid Hemopathy 5
423 c HML056 Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes 5
424 DHY001 Dehydration Polycythemia 5
425 AMN017 Aminolevulinic Acid Dehydratase Deficiency Porphyria 4
426 c CNS018 Constitutional Hemolytic Anemia Due to Acanthocytosis 4
427 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 4
428 ATS479 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Jak1 Deficiency 4
429 GNT188 Genetic Hemolytic Uremic Syndrome 4
430 VTM034 Vitamin B12- and Folate-Independent Constitutional Megaloblastic Anemia 4
431 ALP108 Alpha Granule Disease 4
432 FCT037 Factor V Short Isoforms-Related Bleeding Disorder 3
433 QNT001 Quantitative and/or Qualitative Congenital Phagocyte Defect 2
434 FCT035 Factor V Atlanta Bleeding Disorder 2
435 MCR375 Macrophage or Histiocytic Tumor 2
436 PRT018 Portal Vein Thrombosis 52
437 MLR004 Malaria 77
438 CHR466 Chronic Thromboembolic Pulmonary Hypertension 42
439 IMM225 Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia 37
440 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 15
441 BRG013 Buerger Disease 59
442 URN003 Urinary Schistosomiasis 46
443 PRM285 Primitive Portal Vein Thrombosis 15
444 P PLM037 Pulmonary Hypertension 73
445 GLT018 Glut1 Deficiency Syndrome 1 45
446 P THP004 Thiopurines, Poor Metabolism of, 1 45
447 c THP005 Thiopurines, Poor Metabolism of, 2 23
448 ILC001 Iliac Vein Thrombophlebitis 8
449 SCH028 Schlegelberger Grote Syndrome 6
450 MCR041 Macrothrombocytopenia Progressive Deafness 4
451 VRC005 Varicose Veins 60
452 P HYP769 Hyperlysinemia, Type I 47
453 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 37
454 PRD048 Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome 27
455 CYT019 Cytogenetically Normal Acute Myeloid Leukemia 19
456 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
457 P VSC011 Vasculitis 60
458 SPL006 Splenic Infarction 39
459 c ATM104 Autoimmune Vasculitis 35
460 P DRG021 Drug Metabolism, Poor, Cyp2c19-Related 32
461 c DRG020 Drug Metabolism, Poor, Cyp2d6-Related 22
462 ANG063 Angiolipomatosis, Familial 19
463 c SCN082 Secondary Vasculitis 16
464 c ART115 Aortic Valve Disease 1 78
465 P KDN018 Kidney Disease 75
466 c CHR684 Chronic Kidney Disease 74
467 c GLY008 Glycogen Storage Disease Ii 72
468 P TTR001 Tetralogy of Fallot 70
469 PRP027 Peripheral Vascular Disease 69
470 P BRG001 Brugada Syndrome 69
471 P ADL010 Adult Respiratory Distress Syndrome 68
472 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 68
473 c FML001 Familial Atrial Fibrillation 67
474 c GLY060 Glycogen Storage Disease Ia 66
475 P ATR011 Atrial Fibrillation 66
476 c GLY004 Glycogen Storage Disease V 65
477 c GLY003 Glycogen Storage Disease Iii 65
478 c GLY007 Glycogen Storage Disease Iv 64
479 HYP020 Hyperprolactinemia 64
480 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64
481 LNG099 Lung Disease 64
482 NPH091 Nephrolithiasis, Calcium Oxalate 63
483 c ART138 Aortic Aneurysm, Familial Abdominal, 1 63
484 SHG001 Shigellosis 61
485 c HYP841 Hypoalphalipoproteinemia, Primary, 1 61
486 c ACT071 Acute Kidney Failure 61
487 P GLM007 Glomerulonephritis 60
488 c GLY005 Glycogen Storage Disease Vi 59
489 P GLY013 Glycogen Storage Disease 59
490 P CRD246 Cardiovascular System Disease 59
491 c HYP843 Hypoalphalipoproteinemia, Primary, 2 59
492 P LDD007 Liddle Syndrome 1 59
493 P MLG056 Malignant Hyperthermia 58
494 IRN002 Iron Metabolism Disease 58
495 c GLY011 Glycogen Storage Disease Vii 57
496 c BRG005 Brugada Syndrome 1 56
497 PRD004 Prediabetes Syndrome 56
498 PLC005 Placental Insufficiency 55
499 PRP009 Peripartum Cardiomyopathy 52
500 INF034 Infective Endocarditis 52
501 c GLY097 Glycogen Storage Disease Ixb 49
502 CRT016 Carotid Artery Disease 49
503 c GLY115 Glycogen Storage Disease Ixd 48
504 c FML015 Familial Nephrotic Syndrome 47
505 c BRG004 Brugada Syndrome 4 47
506 c MLG147 Malignant Hyperthermia 1 47
507 c ART159 Aortic Valve Disease 3 46
508 c GLY016 Glycogen Storage Disease Ib 46
509 c GLY009 Glycogen Storage Disease Xv 46
510 HYP648 Hypertension and Brachydactyly Syndrome 45
511 c GLY044 Glycogen Storage Disease Ixc 43
512 P HYP121 Hypoalphalipoproteinemia 41
513 c BRG003 Brugada Syndrome 3 40
514 c BRG007 Brugada Syndrome 5 40
515 KPS002 Kaposiform Hemangioendothelioma 39
516 LFF001 Loeffler Endocarditis 39
517 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 38
518 c GLY057 Glycogen Storage Disease X 38
519 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 37
520 c GLY043 Glycogen Storage Disease Xii 37
521 c GLY006 Glycogen Storage Disease Viii 36
522 c ATM045 Autoimmune Glomerulonephritis 34
523 P PRT257 Portal Hypertension, Noncirrhotic, 1 32
524 c GLY017 Glycogen Storage Disease Ic 32
525 c BRG008 Brugada Syndrome 6 31
526 LPP002 Lipoprotein Glomerulopathy 31
527 c BRG012 Brugada Syndrome 9 30
528 c MLG151 Malignant Hyperthermia 5 30
529 c BRG006 Brugada Syndrome 2 29
530 c GLY059 Glycogen Storage Disease Xiii 29
531 c ATM013 Autoimmune Disease of Cardiovascular System 28
532 RHZ019 Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly 28
533 c GLY093 Glycogen Storage Disease Ixa 28
534 c ATR061 Atrial Fibrillation, Familial, 10 28
535 c BRG010 Brugada Syndrome 8 27
536 c BRG009 Brugada Syndrome 7 26
537 c MLG148 Malignant Hyperthermia 2 26
538 MYT019 May-Thurner Syndrome 26
539 c ATR037 Atrial Fibrillation, Familial, 7 26
540 c ATR038 Atrial Fibrillation, Familial, 3 25
541 c ATR035 Atrial Fibrillation, Familial, 6 25
542 c ATR059 Atrial Fibrillation, Familial, 11 25
543 c LDD008 Liddle Syndrome 2 23
544 c GLY001 Glycogen Storage Disease Ix 23
545 c ATR068 Atrial Fibrillation, Familial, 14 23
546 c MLG149 Malignant Hyperthermia 3 23
547 c ATR070 Atrial Fibrillation, Familial, 9 22
548 c ADL080 Adult Acute Respiratory Distress Syndrome 22
549 c ATR026 Atrial Fibrillation, Familial, 1 22
550 c SBC010 Subacute Glomerulonephritis 21
551 IMM244 Immunodeficiency 81 21
552 c MLG150 Malignant Hyperthermia 4 21
553 c ATR039 Atrial Fibrillation, Familial, 4 21
554 c RNL016 Renal Infectious Disease 21
555 c ATR072 Atrial Fibrillation, Familial, 13 21
556 c HYP886 Hypoalphalipoproteinemia, Primary, 2, Intermediate 20
557 c ATR069 Atrial Fibrillation, Familial, 12 19
558 DSR026 Disorder of Tyrosine Metabolism 19
559 c LDD009 Liddle Syndrome 3 19
560 c MLG152 Malignant Hyperthermia 6 19
561 c ABD015 Abdominal Obesity-Metabolic Syndrome 4 19
562 c ART152 Aortic Aneurysm, Familial Abdominal, 3 15
563 c ATR027 Atrial Fibrillation, Familial, 5 14
564 ISL156 Isolated Splenic Vein Thrombosis 14
565 c ART151 Aortic Aneurysm, Familial Abdominal, 2 13
566 c ATR025 Atrial Fibrillation, Familial, 2 13
567 c ART108 Aortic Aneurysm, Familial Abdominal, 4 13
568 P FML305 Familial Abdominal Aortic Aneurysm 12
569 c ATR028 Atrial Fibrillation, Familial, 8 11
570 THR040 Thrombocytopenia with Elevated Serum Iga and Renal Disease 11
571 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 10
572 ANT082 Antithrombin, Familial Hemorrhagic Diathesis Due to 8
573 c RNR002 Ren-Related Kidney Disease 7
574 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
575 c RRD027 Rare Disease with Malignant Hyperthermia 5
576 HMT022 Hematological Disorder with Renal Involvement 3
577 HMT021 Hematological Disease Associated with an Acquired Peripheral Neuropathy 3
578 RRD074 Rare Disorder Due to Unbalanced Inter-Twin Blood Transfusion 3
579 GNT137 Genetic Tumor of Hematopoietic and Lymphoid Tissues 3
580 P ATX030 Ataxia-Telangiectasia 81
581 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
582 P CRN300 Coronary Heart Disease 1 72
583 MYL005 Myelofibrosis 71
584 P LKM062 Leukemia, Acute Lymphoblastic 69
585 c JVN004 Juvenile Myelomonocytic Leukemia 68
586 APN008 Apnea, Obstructive Sleep 68
587 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 67
588 c PRG042 Progressive Familial Heart Block, Type Ia 67
589 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 66
590 FCT007 Factor Vii Deficiency 66
591 SVR004 Severe Combined Immunodeficiency 66
592 P MTR004 Maturity-Onset Diabetes of the Young 65
593 P THR014 Thrombocytopenia 65
594 PLS009 Plasma Cell Neoplasm 65
595 BLS001 Blau Syndrome 64
596 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 64
597 P VNW001 Von Willebrand's Disease 64
598 c ALP101 Alpha-Thalassemia 63
599 P HYP055 Hypoplastic Left Heart Syndrome 63
600 P HML002 Hemolytic Anemia 63
601 FCT001 Factor Viii Deficiency 63
602 PTN001 Patent Foramen Ovale 63
603 P INT066 Interstitial Lung Disease 62
604 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 61
605 P PRD008 Periodontitis 61
606 PRN001 Purine Nucleoside Phosphorylase Deficiency 60
607 CYC010 Cyclic Neutropenia 60
608 HYP066 Hyperglycemia 60
609 OST003 Osteonecrosis 60
610 P LYM033 Lymphoproliferative Syndrome 58
611 PMS001 Poems Syndrome 58
612 c SYS004 Systemic Mastocytosis 58
613 BLR008 Bilirubin Metabolic Disorder 58
614 c NPH055 Nephrotic Syndrome, Type 1 57
615 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
616 P ATN002 Autonomic Nervous System Disease 57
617 c PRM012 Primary Polycythemia 57
618 RTC002 Reticular Dysgenesis 57
619 P ACT117 Acute Myelomonocytic Leukemia 57
620 PLT004 Platelet Glycoprotein Iv Deficiency 56
621 HYP005 Hypokalemia 56
622 GST112 Gastrointestinal Defects and Immunodeficiency Syndrome 1 56
623 P HRD011 Hereditary Spherocytosis 56
624 BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 56
625 P GRS003 Griscelli Syndrome 56
626 DSS009 Disseminated Intravascular Coagulation 56
627 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 56
628 P SLM003 Salmonellosis 56
629 P HYP024 Hypoparathyroidism 56
630 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 55
631 P FML052 Familial Cold Autoinflammatory Syndrome 55
632 P PLY018 Polycythemia 55
633 c PRG043 Progressive Familial Heart Block, Type Ib 54
634 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 54
635 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
636 NTR018 Neutrophilia, Hereditary 54
637 THR004 Thrombocytosis 53
638 HLL004 Hellp Syndrome 53
639 c PRG126 Progressive Familial Heart Block 53
640 P HMR003 Hemorrhagic Disease 53
641 c THR071 Thrombocytopenia 1 53
642 P END047 Endophthalmitis 53
643 c NPH049 Nephrotic Syndrome, Type 2 53
644 c VNW010 Von Willebrand Disease, Type 2 53
645 P PLM006 Pulmonary Alveolar Proteinosis 52
646 DYS015 Dysentery 52
647 ANL018 Analbuminemia 52
648 PRM373 Primary Cutaneous T-Cell Non-Hodgkin Lymphoma 52
649 P HMP007 Hemophilia 52
650 c MYL058 Myeloproliferative Syndrome, Transient 51
651 PNC001 Pancytopenia 51
652 FLT009 Folate Malabsorption, Hereditary 51
653 c PRD040 Periodontitis, Chronic 51
654 HYP063 Hypersplenism 51
655 RDD003 Riddle Syndrome 50
656 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 50
657 c ACQ017 Acquired Von Willebrand Syndrome 50
658 AGG002 Aggressive Systemic Mastocytosis 50
659 ATY053 Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative 50
660 c NPH102 Nephrotic Syndrome, Type 14 50
661 BLD044 Bladder Disease 49
662 STR089 Storage Pool Platelet Disease 49
663 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 49
664 c ACT135 Acute Graft Versus Host Disease 49
665 P PRR002 Pure Red-Cell Aplasia 49
666 P CNG003 Congenital Dyserythropoietic Anemia 48
667 RTR011 Retroperitoneal Fibrosis 48
668 c LYM107 Lymphoproliferative Syndrome 2 48
669 MYL003 Myeloid Sarcoma 48
670 CHR563 Chronic Eosinophilic Leukemia 48
671 c CHR418 Chronic Leukemia 48
672 MLT113 Multicentric Castleman Disease 48
673 MLT180 Multisystem Inflammatory Syndrome in Children 48
674 c VNW005 Von Willebrand Disease, Type 1 48
675 c VNW008 Von Willebrand Disease, Type 3 47
676 SHH001 Sheehan Syndrome 47
677 IMM062 Immunodeficiency 11 47
678 c LYM106 Lymphoproliferative Syndrome 1 47
679 c FML117 Familial Cold Autoinflammatory Syndrome 2 47
680 ACT113 Acute Myeloblastic Leukemia with Maturation 46
681 MCL009 Mcleod Syndrome 46
682 LPD004 Lipoid Nephrosis 46
683 HMP001 Hemopericardium 46
684 c DMN021 Diamond-Blackfan Anemia 6 45
685 VRC001 Varicocele 45
686 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 44
687 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
688 PRT014 Protein S Deficiency 44
689 GLY015 Glycine N-Methyltransferase Deficiency 44
690 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 44
691 THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 44
692 c PSD048 Pseudo-Von Willebrand Disease 44
693 c HMG003 Hemoglobin E Disease 44
694 MST004 Mast Cell Neoplasm 44
695 c ANM080 Anemia, Congenital Dyserythropoietic, Type Iiia 43
696 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 43
697 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 43
698 GRH001 Gorham's Disease 43
699 OVR093 Overhydrated Hereditary Stomatocytosis 43
700 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 43
701 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 43
702 INT038 Interdigitating Dendritic Cell Sarcoma 43
703 P HRT035 Heart Block, Congenital 42
704 GRN017 Granulocytopenia 42
705 LYM014 Lymphangitis 42
706 c NPH054 Nephrotic Syndrome, Type 3 42
707 c NPH076 Nephrotic Syndrome, Type 10 42
708 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 41
709 c ERY031 Erythrocytosis, Familial, 3 41
710 c BLD126 Bleeding Disorder, Platelet-Type, 18 41
711 c FNC058 Fanconi Anemia, Complementation Group R 41
712 P BCL004 B-Cell Non-Hodgkin Lymphoma 41
713 BLD051 Blood Coagulation Disease 41
714 STR007 Stress Polycythemia 41
715 c HMG001 Hemoglobin C Disease 41
716 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
717 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
718 c SPH013 Spherocytosis, Type 1 41
719 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 40
720 IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 40
721 CHR286 Chronic Neutrophilic Leukemia 40
722 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
723 c HYP543 Hypoplastic Left Heart Syndrome 1 40
724 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 40
725 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
726 CHL070 Cholesterol Embolism 39
727 c NPH047 Nephrotic Syndrome, Type 4 39
728 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 39
729 c SVR110 Severe Congenital Neutropenia 4 39
730 MYL067 Myeloproliferative Disorder, Chronic, with Eosinophilia 38
731 ACT177 Acute Basophilic Leukemia 38
732 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 38
733 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 38
734 c DMN024 Diamond-Blackfan Anemia 7 38
735 c NPH117 Nephrotic Syndrome, Type 24 37
736 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 37
737 c NPH108 Nephrotic Syndrome, Type 20 37
738 c BLD152 Bleeding Disorder, Platelet-Type, 16 37
739 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
740 CRY019 Cryohydrocytosis 37
741 FTL004 Fetal Erythroblastosis 36
742 c FML270 Familial Cold Autoinflammatory Syndrome 4 36
743 GRY001 Gray Zone Lymphoma 36
744 c NPH074 Nephrotic Syndrome, Type 9 36
745 IND017 Indolent Plasma Cell Myeloma 36
746 P DYS021 Dysautonomia 36
747 P THR055 Thrombophilia, X-Linked, Due to Factor Ix Defect 36
748 THL010 Thalassemia Minor 35
749 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 35
750 HPT025 Hepatic Lipase Deficiency 35
751 CRN270 Coronary Artery Dissection, Spontaneous 35
752 c BLD125 Bleeding Disorder, Platelet-Type, 17 35
753 c CRN214 Coronary Heart Disease 5 35
754 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
755 TRN030 Transient Erythroblastopenia of Childhood 35
756 CMP083 Complete Plasminogen Activator Inhibitor 1 Deficiency 34
757 c SPH014 Spherocytosis, Type 2 34
758 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
759 c BLD156 Bleeding Disorder, Platelet-Type, 14 33
760 c DMN018 Diamond-Blackfan Anemia 5 33
761 c SPH015 Spherocytosis, Type 3 33
762 GLT040 Glutamate-Cysteine Ligase Deficiency 33
763 SML011 Smoldering Myeloma 33
764 BLD054 Blood Protein Disease 33
765 HMP028 Hemophagocytic Syndrome Associated with an Infection 32
766 c LYM151 Lymphoproliferative Syndrome 3 32
767 c BLD133 Bleeding Disorder, Platelet-Type, 20 32
768 SLT001 Solitary Osseous Plasmacytoma 32
769 c CHR064 Chronic Monocytic Leukemia 32
770 SMH001 Sm-Ahnmd 32
771 MSP001 Masp2 Deficiency 32
772 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 31
773 c NPH111 Nephrotic Syndrome, Type 21 31
774 THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 31
775 HMP003 Hemopneumothorax 31
776 ACT114 Acute Myeloblastic Leukemia Without Maturation 31
777 c NPH115 Nephrotic Syndrome, Type 23 31
778 c ACQ014 Acquired Hemophilia 31
779 BLD052 Blood Group Incompatibility 30
780 c ACQ042 Acquired Hemophilia a 30
781 HDG005 Hodgkin's Lymphoma, Mixed Cellularity 30
782 PLM007 Pulmonary Aspergilloma 30
783 c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 30
784 P SCK034 Sickle Beta Thalassemia 30
785 c MNS014 Monosomy 22 30
786 ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 30
787 THR089 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 30
788 c SPH017 Spherocytosis, Type 5 30
789 RFR009 Refractory Cytopenia with Multilineage Dysplasia 30
790 IMM191 Immunodeficiency 56 30
791 PRT025 Protein-Deficiency Anemia 30
792 HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 29
793 THR021 Thrombophilia Due to Hrg Deficiency 29
794 P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 29
795 c ACT047 Acute Endophthalmitis 29
796 PRX008 Paroxysmal Cold Hemoglobinuria 29
797 c ATM068 Autoimmune Hypoparathyroidism 29
798 FCT032 Factor Xiii, a Subunit, Deficiency of 29
799 c DMN022 Diamond-Blackfan Anemia 9 29
800 NTR013 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 29
801 ORB009 Orbit Lymphoma 28
802 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 28
803 APP002 Appendix Lymphoma 28
804 c ADL093 Adult Acute Monocytic Leukemia 28
805 THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 28
806 PRN002 Paranasal Sinus Lymphoma 28
807 c BLD154 Bleeding Disorder, Platelet-Type, 12 28
808 c NPH103 Nephrotic Syndrome, Type 15 27
809 CMB095 Combined T and B Cell Immunodeficiency 27
810 c INF193 Inflammatory Bowel Disease 30 27
811 RFR001 Refractory Plasma Cell Neoplasm 27
812 c ACQ016 Acquired Pure Red Cell Aplasia 27
813 SPC022 Specific Antibody Deficiency 27
814 c PRG101 Progressive Familial Heart Block, Type Ii 27
815 c THR110 Thrombocytopenia 6 27
816 c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 27
817 c NPH114 Nephrotic Syndrome, Type 22 27
818 ATM106 Autoimmune Hemolytic Anemia, Cold Type 26
819 c HRM023 Hermansky-Pudlak Syndrome 11 26
820 c NPH096 Nephrotic Syndrome, Type 12 26
821 c NPH073 Nephrotic Syndrome, Type 8 26
822 TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 26
823 c NPH095 Nephrotic Syndrome, Type 11 26
824 c SBC006 Subacute Leukemia 26
825 P ATS208 Autosomal Dominant Macrothrombocytopenia 26
826 CHR058 Chronic Congestive Splenomegaly 26
827 DHY015 Dehydrated Hereditary Stomatocytosis 2 26
828 IMM232 Immunodeficiency 75 26
829 c NPH105 Nephrotic Syndrome, Type 17 25
830 P ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 25
831 c BLD121 Bleeding Disorder, Platelet-Type, 15 25
832 c DMN045 Diamond-Blackfan Anemia-Like 25
833 HGH021 Hughes-Stovin Syndrome 25
834 c BNM011 Bone Marrow Failure Syndrome 2 25
835 HRT003 Heart Lymphoma 24
836 c NPH070 Nephrotic Syndrome, Type 6 24
837 PRS002 Prostate Lymphoma 24
838 c MNS008 Monosomy 21 24
839 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
840 P MXD058 Mixed Phenotype Acute Leukemia, T/myeloid 24
841 c BLD127 Bleeding Disorder, Platelet-Type, 19 24
842 ACT165 Acute Megakaryoblastic Leukemia Without Down Syndrome 24
843 HDG006 Hodgkin's Paragranuloma 24
844 c DMN028 Diamond-Blackfan Anemia 12 24
845 c NPH106 Nephrotic Syndrome, Type 18 24
846 FCT033 Factor Xiii, B Subunit, Deficiency of 24
847 PRM379 Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome 24
848 c ATR092 Atrial Fibrillation, Familial, 15 24
849 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 23
850 MYL081 Myeloid Leukemia Associated with Down Syndrome 23
851 c ATS209 Autosomal Dominant Secondary Polycythemia 23
852 HRD218 Hereditary Stomatocytosis 23
853 c PRC045 Preeclampsia/eclampsia 5 23
854 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
855 c RFR014 Refractory Anemia with Excess Blasts Type 2 23
856 c DMN030 Diamond-Blackfan Anemia 13 23
857 ESN023 Eosinophilia, Familial 23
858 P 8P1002 8p11 Myeloproliferative Syndrome 22
859 c NPH093 Nephrotic Syndrome, Type 13 22
860 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 22
861 c NPH107 Nephrotic Syndrome, Type 19 22
862 LFR008 L-Ferritin Deficiency 22
863 c CHR059 Chronic Endophthalmitis 22
864 DND003 Dendritic Cell Thymoma 22
865 CYN002 Cyanosis, Transient Neonatal 22
866 NSL004 Nasal Cavity Lymphoma 22
867 c HYP517 Hypoplastic Left Heart Syndrome 2 22
868 c MNS011 Monosomy 9q22.3 22
869 ACT268 Acute Myeloid Leukemia with Myelodysplasia-Related Changes 22
870 c SBC004 Subacute Myeloid Leukemia 21
871 VRS001 Virus Associated Hemophagocytic Syndrome 21
872 ACT264 Acute Myeloid Leukemia with Maturation 21
873 CMB088 Combined Immunodeficiency Due to Partial Rag1 Deficiency 21
874 c NPH104 Nephrotic Syndrome, Type 16 21
875 c RRH015 Rare Hemorrhagic Disorder 20
876 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 20
877 IND016 Indolent B-Cell Non-Hodgkin Lymphoma 19
878 IMM128 Immunodeficiency Due to a Late Component of Complement Deficiency 19
879 c ACT269 Acute Myeloid Leukemia with T(8;21); (q22; Q22.1) 19
880 c NPH119 Nephrotic Syndrome, Type 26 19
881 c CNG619 Congenital Aplastic Anemia 19
882 P ATS469 Autosomal Monosomy 19
883 ATR024 Atrial Fibrillation and Stroke 19
884 c ANM079 Anemia, Sideroblastic, 5 19
885 c DMN050 Diamond-Blackfan Anemia 21 19
886 c CRN174 Coronary Heart Disease 2 18
887 c SCN051 Secondary Pulmonary Alveolar Proteinosis 18
888 PLS037 Plasma Cell Tumor 18
889 c CRN178 Coronary Heart Disease 6 18
890 c ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 18
891 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
892 IMM268 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias 17
893 c LKM055 Leukemia, Acute Lymphoblastic 2 17
894 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
895 INF182 Infection-Related Hemolytic Uremic Syndrome 17
896 HYD045 Hydroa Vacciniforme-Like Lymphoma 17
897 c BN2001 Bn2 Diffuse Large B-Cell Lymphoma 17
898 c CRN177 Coronary Heart Disease 7 17
899 SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 16
900 HMG028 Hemoglobin Lepore-Beta-Thalassemia Syndrome 16
901 c ACT246 Acute Mast Cell Leukemia 16
902 DNZ002 Dianzani Autoimmune Lymphoproliferative Disease 16
903 BLD072 Bleeding Disorder, East Texas Type 16
904 ACT260 Acute Promyelocytic Leukemia with Pml-Rara 16
905 PRD001 Predominantly Cortical Thymoma 16
906 c CRN172 Coronary Heart Disease 3 16
907 c PRM369 Primary Acquired Pure Red Cell Aplasia 15
908 CLS045 Classic Hodgkin Lymphoma, Mixed Cellularity Type 15
909 c DYS194 Dysautonomia-Like Disorder 15
910 c CNG121 Congenital Pulmonary Alveolar Proteinosis 15
911 c CRN175 Coronary Heart Disease 4 14
912 c CRN173 Coronary Heart Disease 8 14
913 ACQ051 Acquired Prothrombin Deficiency 13
914 WHT007 White Platelet Syndrome 13
915 c CRN176 Coronary Heart Disease 9 13
916 TRN017 Transient Neonatal Neutropenia 13
917 c FML155 Familial Acute Myeloid Leukemia with Mutated Cebpa 13
918 RRC033 Rare Coagulation Disorder 13
919 ACQ073 Acquired Factor X Deficiency 13
920 c ACT254 Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2) 12
921 LYM117 Lymphocytic Hypereosinophilic Syndrome 12
922 ACQ077 Acquired Factor Vii Deficiency 12
923 c ATS521 Autosomal Dominant Macrothrombocytopenia Tubb1-Related 12
924 c SCK051 Sickle Cell-Hemoglobin E Disease Syndrome 12
925 ACT265 Acute Myeloid Leukemia with Mutated Npm1 12
926 NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 12
927 c RRH032 Rare Hemolytic Anemia 12
928 ALK002 Aleukemic Monocytic Leukemia Cutis 11
929 c EPB003 Epb42-Related Hereditary Spherocytosis 11
930 ACQ072 Acquired Factor V Deficiency 11
931 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 11
932 ALP049 Alopecia Antibody Deficiency 11
933 LTH044 Lutheran Null 11
934 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 11
935 CNG613 Congenital Autosomal Recessive Small-Platelet Thrombocytopenia 11
936 c SSC054 Susceptibility to Localized Juvenile Periodontitis 10
937 c MXD053 Mixed Phenotype Acute Leukemia with T(9;22)(q34.1;q11.2) 10
938 ACQ074 Acquired Factor Xi Deficiency 10
939 CNS021 Constitutional Neutropenia 10
940 c MYL070 Myeloproliferative Disease, Autosomal Recessive 9
941 c CNG266 Congenital Secondary Polycythemia 9
942 c FML317 Familial Monosomy 7 Syndrome 9
943 CVR004 Cavernous Hemangioma of Colon 9
944 MYC091 Mycosis Fungoides and Variants 9
945 P ATS205 Autosomal Thrombocytopenia with Normal Platelets 8
946 P ACT271 Acute Myeloid Leukemia with Mutated Cebpa 8
947 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 8
948 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 8
949 ISL138 Isolated Hereditary Giant Platelet Disorder 8
950 UNS001 Unstable Hemoglobin Disease 8
951 c ACT272 Acute Myeloid Leukemia with T(1;22)(p13;q13) 7
952 NDL018 Nodular Urticaria Pigmentosa 7
953 TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7
954 MTH001 Methotrexate-Associated Lymphoproliferation 7
955 c RRH028 Rare Hemorrhagic Disorder Due to a Constitutional Platelet Anomaly 7
956 c RRH018 Rare Hemorrhagic Disorder Due to a Qualitative Platelet Defect 7
957 EXT049 Extramedullary Soft Tissue Plasmacytoma 7
958 c RRF001 Rare Form of Salmonellosis 7
959 c RRH016 Rare Hemorrhagic Disorder Due to an Acquired Platelet Anomaly 7
960 c RRH013 Rare Hemorrhagic Disorder Due to a Platelet Anomaly 7
961 ACT184 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent 6
962 ISL142 Isolated Constitutional Thrombocytopenia 6
963 INF192 Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia 6
964 c RRH010 Rare Hypoparathyroidism 6
965 PRM370 Primary Acquired Red Cell Aplasia 6
966 ACT185 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor 6
967 BTT010 Beta-Thalassemia Associated with Another Hemoglobin Anomaly 6
968 c RRH017 Rare Hemorrhagic Disorder Due to a Constitutional Thrombocytopenia 6
969 c TTL014 Total Autosomal Monosomy 6
970 PRM165 Primary Plasmacytoma of the Bone 6
971 ERL062 Early-Onset Autoimmunity-Autoinflammation-Immunodeficiency Syndrome 6
972 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 6
973 c RRT016 Rare Autonomic Nervous System Disorder 6
974 HYP626 Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections 5
975 ACT158 Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation 5
976 c HRD112 Hereditary Thrombocytopenia with Normal Platelets 5
977 IMM269 Immune Deficiency Due to Impaired Neutrophil Phagocytosis and Migration 5
978 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 5
979 DNS011 Dense Granule Disease 5
980 IMM217 Immunodeficiency Predominantly Affecting Antibody Production 5
981 ATS435 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency 5
982 MXD055 Mixed Phenotype Acute Leukemia with Bcr-Abl1 5
983 ATS434 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency 5
984 c RRH029 Rare Hemorrhagic Disorder Due to a Constitutional Coagulation Factors Defect 5
985 ATS436 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency 5
986 c RRH002 Rare Hemorrhagic Disorder Due to an Acquired Coagulation Factor Defect 5
987 c RRH014 Rare Hemorrhagic Disorder Due to a Coagulation Factors Defect 5
988 c HML057 Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies 5
989 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
990 SCK052 Sickle Cell Disease Associated with Another Hemoglobin Anomaly 5
991 PRM300 Primary Immunodeficiency Due to a Defect in Adaptive Immunity 5
992 CLS046 Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 5
993 PRM338 Primary Immunodeficiency Due to a Defect in Innate Immunity 4
994 CNS010 Constitutional Dyserythropoietic Anemia 4
995 BTT008 Beta-Thalassemia with Other Manifestations 4
996 IMM205 Immunodeficiency Syndrome with Autoimmunity 4
997 IMM203 Immune Dysregulation Disease with Immunodeficiency 4
998 SYN123 Syndromic Constitutional Thrombocytopenia 4
999 IMM052 Immunodeficiency Due to Absence of Thymus 4
1000 CNS019 Constitutional Sideroblastic Anemia 4
1001 SPC020 Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells 4
1002 RRC023 Rare Constitutional Aplastic Anemia 4
1003 IMM208 Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells 3
1004 c RRC032 Rare Constitutional Hemolytic Anemia Due to a Red Cell Membrane Anomaly 3
1005 P CNS017 Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder 3
1006 OTH016 Other Immunodeficiency Syndrome with Predominantly Antibody Defects 3
1007 PRM313 Primary Organ-Specific Lymphoma 3
1008 PRT104 Protein S Acquired Deficiency 3
1009 HST023 Histiocytic and Dendritic Cell Tumor 3
1010 IMM213 Immune Dysregulation with Inflammatory Bowel Disease 3
1011 GNT055 Genetic Susceptibility to Infections Due to Particular Pathogens 3
1012 CNG561 Congenital Vitamin K-Dependent Coagulation Factors Deficiency 3
1013 SYN115 Syndromic Agammaglobulinemia 3
1014 IMM211 Immunodeficiency Due to a Complement Regulatory Deficiency 3
1015 RRC008 Rare Acquired Deficiency Anemia 3
1016 c CNS016 Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder 3
1017 CMB113 Combined Deficiency of Factor Vii and Factor X 2
1018 FCT036 Factor V Amsterdam Bleeding Disorder 2
1019 CNS014 Constitutional Deficiency Anemia 2
1020 FMR001 Femoral Vein Thrombophlebitis 23
1021 PLM033 Pulmonary Embolism 57
1022 BDD001 Budd-Chiari Syndrome 64
1023 P VSC007 Vascular Disease 64
1024 c RRV009 Rare Vascular Disease 14
1025 P EXD001 Exudative Vitreoretinopathy 60
1026 c EXD004 Exudative Vitreoretinopathy 4 40
1027 c EXD012 Exudative Vitreoretinopathy 7 36
1028 c EXD006 Exudative Vitreoretinopathy 5 31
1029 c EXD010 Exudative Vitreoretinopathy 6 29
1030 c EXD007 Exudative Vitreoretinopathy 3 25
1031 P GST053 Gastric Cancer 83
1032 c PLM164 Pulmonary Hypertension, Primary, 1 76
1033 P BLD134 Bladder Cancer 74
1034 P HYP724 Hyperlipoproteinemia, Type Iii 72
1035 c HYP768 Hyperlipoproteinemia, Type I 69
1036 P GLC113 Galactosemia I 66
1037 P ART005 Arteriovenous Malformation 65
1038 ANG020 Angiosarcoma 64
1039 HYP052 Hyperkalemic Periodic Paralysis 63
1040 CHR001 Churg-Strauss Syndrome 61
1041 CYS010 Cystinosis 59
1042 c HYP740 Hyperlipoproteinemia, Type V 57
1043 HYP003 Hypermethioninemia 56
1044 HYP074 Hypersensitivity Vasculitis 56
1045 ALL010 Allergic Contact Dermatitis 56
1046 c GLC111 Galactosemia Ii 55
1047 SPR004 Supravalvular Aortic Stenosis 54
1048 c GLC112 Galactosemia Iii 53
1049 c HYP739 Hyperlipoproteinemia, Type Iv 53
1050 P RST002 Restrictive Cardiomyopathy 53
1051 HRT012 Heart Valve Disease 52
1052 P TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 51
1053 ERY029 Erythermalgia, Primary 48
1054 c CRD098 Cardiomyopathy, Familial Restrictive, 3 47
1055 c TBL032 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 45
1056 c CRD176 Cardiomyopathy, Familial Restrictive, 1 42
1057 c PLM127 Pulmonary Hypertension, Primary, 3 38
1058 c PLM121 Pulmonary Hypertension, Primary, 4 35
1059 c PLM128 Pulmonary Hypertension, Primary, 2 33
1060 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
1061 c TBL033 Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 30
1062 c GLC115 Galactosemia Iv 30
1063 c BLD008 Bladder Carcinoma in Situ 28
1064 c HYP819 Hyperlipoproteinemia, Type Id 26
1065 c PRT258 Portal Hypertension, Noncirrhotic, 2 26
1066 c TBL034 Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 24
1067 c PLM202 Pulmonary Hypertension, Primary, 5 21
1068 c CRD254 Cardiomyopathy, Familial Restrictive, 6 21
1069 c CRD057 Cardiomyopathy, Familial Restrictive, 2 20
1070 c HRD215 Hereditary Gastric Cancer 16
1071 c RRR004 Rare Arteriovenous Malformation 10
1072 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 10
1073 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 7
1074 c RRP017 Rare Pulmonary Hypertension 7
1075 c MCL042 Macular Degeneration, Age-Related, 1 82
1076 c LKM061 Leukemia, Acute Myeloid 82
1077 IMM167 Immune Deficiency Disease 79
1078 c THR092 Thrombophilia Due to Thrombin Defect 76
1079 P LKM071 Leukemia, Chronic Lymphocytic 75
1080 c HMC039 Hemochromatosis, Type 1 75
1081 c INF071 Inflammatory Bowel Disease 1 74
1082 c MSM022 Mismatch Repair Cancer Syndrome 1 73
1083 c LKM063 Leukemia, Chronic Myeloid 73
1084 c HMP029 Hemophilia a 73
1085 c HYP836 Hypercholesterolemia, Familial, 1 72
1086 P LVR013 Liver Disease 71
1087 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 71
1088 c HMP004 Hemophilia B 70
1089 PLY001 Polycythemia Vera 68
1090 P GLN011 Glanzmann Thrombasthenia 1 68
1091 P PRP003 Porphyria Cutanea Tarda 68
1092 CNG034 Congestive Heart Failure 67
1093 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1094 c LNG044 Long Qt Syndrome 1 67
1095 P NRV007 Nervous System Disease 67
1096 P HYP098 Hypereosinophilic Syndrome 66
1097 P AGM001 Agammaglobulinemia 65
1098 ATH013 Atherosclerosis Susceptibility 64
1099 LSC001 Lesch-Nyhan Syndrome 64
1100 MGL001 Megaloblastic Anemia 64
1101 MYL009 Myelodysplastic Syndrome 64
1102 CHN016 Cohen Syndrome 64
1103 P LNG028 Long Qt Syndrome 63
1104 P ACR001 Aicardi-Goutieres Syndrome 63
1105 PRL009 Prolactinoma 63
1106 c ANM036 Anemia, Sideroblastic, 1 63
1107 c VTM027 Vitamin D-Dependent Rickets, Type 2a 61
1108 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
1109 P BLD124 Bleeding Disorder, Platelet-Type, 11 61
1110 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 61
1111 P NPH012 Nephrotic Syndrome 61
1112 P THR005 Thrombotic Thrombocytopenic Purpura 60
1113 c HYP731 Hyperaldosteronism, Familial, Type I 60
1114 c LNG047 Long Qt Syndrome 2 59
1115 P MYL006 Myeloid Leukemia 59
1116 CST005 Castleman Disease 59
1117 LGG001 Legg-Calve-Perthes Disease 59
1118 NNK001 Nonaka Myopathy 59
1119 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
1120 NTR042 Neutrophilic Dermatosis, Acute Febrile 59
1121 CHR063 Chronic Mucocutaneous Candidiasis 59
1122 c THR082 Thrombophilia Due to Activated Protein C Resistance 59
1123 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
1124 FCT004 Factor Xii Deficiency 58
1125 P BRT004 Bartter Disease 57
1126 c ACT134 Acute Liver Failure 57
1127 HYP458 Hyper Ige Syndrome 56
1128 LYM027 Lymphopenia 56
1129 c HMC009 Hemochromatosis Type 2 56
1130 c LNG048 Long Qt Syndrome 3 56
1131 P DFF005 Diffuse Large B-Cell Lymphoma 55
1132 c HMC035 Hemochromatosis, Type 4 55
1133 HMG005 Hemoglobinopathy 55
1134 c INF037 Inflammatory Bowel Disease 54
1135 c HYP840 Hypercholesterolemia, Familial, 4 54
1136 IMM080 Immunodeficiency 23 54
1137 CRD137 Cardiogenic Shock 54
1138 c FNC045 Fanconi Anemia, Complementation Group F 53
1139 RVS001 Revesz Syndrome 53
1140 FCT005 Factor Xiii Deficiency 53
1141 c LKM070 Leukemia, Acute Monocytic 53
1142 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 53
1143 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 53
1144 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
1145 c LKM056 Leukemia, Chronic Lymphocytic 2 52
1146 IMM095 Immunodeficiency 35 52
1147 P THR015 Thrombophilia 52
1148 P PLM085 Pulmonary Hemosiderosis 52
1149 c CHR037 Chronic Eosinophilic Pneumonia 52
1150 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
1151 P SDR003 Sideroblastic Anemia 52
1152 P RNL007 Renal Tubular Acidosis 51
1153 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1154 RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 51
1155 c HMC010 Hemochromatosis, Type 3 51
1156 P ESN008 Eosinophilic Pneumonia 51
1157 MNN020 Meningococcal Infection 51
1158 P PRS049 Persistent Mullerian Duct Syndrome 51
1159 P CMP008 Compartment Syndrome 51
1160 AMB001 Amebiasis 51
1161 THR009 Thrombocytopenia-Absent Radius Syndrome 51
1162 PRV004 Periventricular Leukomalacia 50
1163 c HYP837 Hypercholesterolemia, Familial, 2 50
1164 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 50
1165 PLM035 Pulmonary Eosinophilia 50
1166 P BLY001 B-Lymphoblastic Leukemia/lymphoma 50
1167 c CHR417 Chronic Graft Versus Host Disease 50
1168 CHR728 Chronic Myelogenous Leukemia, Bcr-Abl1 Positive 49
1169 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 49
1170 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
1171 c CNT035 Central Nervous System Disease 49
1172 IMM184 Immunodeficiency 17 49
1173 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
1174 HST016 Histiocytic Sarcoma 48
1175 HYP088 Hyper-Igd Syndrome 48
1176 JCB001 Jacobsen Syndrome 48
1177 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
1178 SPL018 Splenomegaly 48
1179 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
1180 P PLM025 Pulmonary Venoocclusive Disease 48
1181 c FML191 Familial Long Qt Syndrome 48
1182 c TCL005 T-Cell Prolymphocytic Leukemia 48
1183 c BRT042 Bartter Syndrome, Type 3 48
1184 P BWL003 Bowel Dysfunction 48
1185 HYP870 Hyperuricemia, Hprt-Related 47
1186 PRT003 Partington Syndrome 47
1187 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
1188 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
1189 c LNG050 Long Qt Syndrome 5 47
1190 RFR010 Refractory Anemia 47
1191 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
1192 c ACR116 Aicardi-Goutieres Syndrome 1 47
1193 c FNC023 Fanconi Anemia, Complementation Group N 47
1194 P MSM014 Mismatch Repair Cancer Syndrome 47
1195 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
1196 PRL017 Prolymphocytic Leukemia 46
1197 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
1198 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 46
1199 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
1200 LYM126 Lymphoma Aids Related 45
1201 c LNG051 Long Qt Syndrome 6 45
1202 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
1203 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
1204 WHP001 Whipple Disease 45
1205 PRT012 Prothrombin Deficiency 45
1206 c INF145 Infantile Liver Failure Syndrome 1 45
1207 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 45
1208 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
1209 c ADL052 Adult Acute Lymphocytic Leukemia 45
1210 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
1211 c LNG053 Long Qt Syndrome 9 44
1212 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 44
1213 HGH020 High Molecular Weight Kininogen Deficiency 44
1214 SPL012 Splenic Disease 44
1215 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
1216 c FNC047 Fanconi Anemia, Complementation Group Q 44
1217 NSL029 Nasal Type Extranodal Nk/t-Cell Lymphoma 44
1218 c LNG098 Long Qt Syndrome 14 44
1219 IMM096 Immunodeficiency 30 43
1220 c ACQ010 Acquired Polycythemia 43
1221 DMN007 D-Minus Hemolytic Uremic Syndrome 43
1222 IMM223 Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis 43
1223 c LNG096 Long Qt Syndrome 15 43
1224 c ERY032 Erythrocytosis, Familial, 4 43
1225 c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 43
1226 MNC006 Monoclonal Gammopathy of Uncertain Significance 43
1227 c HMC021 Hemochromatosis, Type 2a 43
1228 QLT001 Qualitative Platelet Defect 43
1229 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
1230 MYL013 Myeloperoxidase Deficiency 42
1231 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
1232 c LNG056 Long Qt Syndrome 12 42
1233 c PRM038 Primary Agammaglobulinemia 42
1234 c LNG057 Long Qt Syndrome 13 42
1235 ACT217 Acute Myeloid Leukemia with Recurrent Genetic Anomaly 42
1236 c LNG046 Long Qt Syndrome 11 42
1237 c CNG379 Congenital Disorder of Glycosylation, Type It 42
1238 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
1239 c DMN006 Diamond-Blackfan Anemia 3 42
1240 c LNG045 Long Qt Syndrome 10 42
1241 c HYP272 Hypercholesterolemia, Familial, 3 42
1242 c HMC019 Hemochromatosis, Type 2b 42
1243 BLR027 Blue Rubber Bleb Nevus 42
1244 c BLD120 Bleeding Disorder, Platelet-Type, 8 42
1245 IMM186 Immunodeficiency 27b 42
1246 IMM178 Immunodeficiency 31b 42
1247 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
1248 PRP038 Properdin Deficiency, X-Linked 41
1249 c ACQ005 Acquired Thrombocytopenia 41
1250 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
1251 c FNC052 Fanconi Anemia, Complementation Group T 41
1252 LYM042 Lymphocytic Colitis 41
1253 c HMC034 Hemochromatosis, Type 5 41
1254 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
1255 c MCL078 Macular Degeneration, Age-Related, 14 40
1256 EXT010 Extramedullary Plasmacytoma 40
1257 ALP013 Alpha-Thalassemia Myelodysplasia Syndrome 40
1258 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
1259 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 40
1260 MST001 Mast-Cell Sarcoma 40
1261 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 40
1262 LNG004 Langerhans Cell Sarcoma 40
1263 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
1264 c LVR030 Liver Failure, Infantile, Transient 40
1265 CHL149 Childhood Acute Myeloid Leukemia 40
1266 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 40
1267 c MCL038 Macular Degeneration, Age-Related, 4 39
1268 NDL024 Nodal Marginal Zone Lymphoma 39
1269 c MCL043 Macular Degeneration, Age-Related, 2 39
1270 P SNG014 Singleton-Merten Syndrome 39
1271 c HMN021 Human T-Cell Leukemia Virus Type 1 38
1272 c MCL041 Macular Degeneration, Age-Related, 7 38
1273 IMM100 Immunoglobulin Kappa Light Chain Deficiency 38
1274 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 38
1275 c MCL044 Macular Degeneration, Age-Related, 9 38
1276 c ACR091 Aicardi-Goutieres Syndrome 4 38
1277 CLD007 Cold Agglutinin Disease 38
1278 HPR006 Heparin Cofactor Ii Deficiency 38
1279 c ACR088 Aicardi-Goutieres Syndrome 3 38
1280 c FNC046 Fanconi Anemia, Complementation Group P 38
1281 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
1282 c GMM003 Gamma Heavy Chain Disease 37
1283 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 37
1284 IMM224 Immunodeficiency 68 37
1285 c BLD157 Bleeding Disorder, Platelet-Type, 9 37
1286 c ACR092 Aicardi-Goutieres Syndrome 5 37
1287 c ACR081 Aicardi-Goutieres Syndrome 6 36
1288 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
1289 MLG141 Malignant Atrophic Papulosis 36
1290 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
1291 c HYP438 Hyperaldosteronism, Familial, Type Iii 36
1292 c ERY063 Erythrocytosis, Familial, 5 36
1293 c ACR090 Aicardi-Goutieres Syndrome 2 36
1294 HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 36
1295 INT221 Intravascular Large B-Cell Lymphoma 36
1296 ATM069 Autoimmune Hemolytic Anemia, Warm Type 36
1297 c PRM149 Primary Hypereosinophilic Syndrome 36
1298 CHL170 Childhood Lymphoma 36
1299 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 36
1300 HST008 Histiocytic and Dendritic Cell Cancer 35
1301 PST046 Post-Transplant Lymphoproliferative Disease 35
1302 HGH045 High-Grade B-Cell Lymphoma Double-Hit/triple-Hit 35
1303 c INF076 Inflammatory Bowel Disease 18 35
1304 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 35
1305 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 35
1306 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1307 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
1308 c ADL001 Adult Lymphoma 35
1309 SYS077 Systemic Mastocytosis with Associated Hematologic Neoplasm 35
1310 c INF170 Inflammatory Bowel Disease 29 34
1311 P HVY001 Heavy Chain Disease 34
1312 P LKM005 Leukemia, T-Cell, Chronic 34
1313 BLS010 Blastic Plasmacytoid Dendritic Cell Neoplasm 34
1314 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1315 c HMG004 Hemoglobin D Disease 34
1316 TTR005 Tetrahydrobiopterin Deficiency 34
1317 c ACR084 Aicardi-Goutieres Syndrome 7 33
1318 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 33
1319 GLY061 Glycogen Storage Disease 0, Muscle 33
1320 c INF093 Inflammatory Bowel Disease 14 33
1321 IMM068 Immunodeficiency 8 33
1322 c SNG011 Singleton-Merten Syndrome 1 33
1323 FLC001 Folic Acid Deficiency Anemia 33
1324 DFF041 Diffuse Large B-Cell Lymphoma Activated B-Cell Type 33
1325 IMM212 Immunodeficiency by Defective Expression of Mhc Class I 32
1326 SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 32
1327 IMM183 Immunodeficiency 32a 32
1328 c INF088 Inflammatory Bowel Disease 5 32
1329 AMM001 Amme Complex 32
1330 c CNG031 Congenital Nervous System Abnormality 32
1331 c PRP091 Porphyria Cutanea Tarda, Type I 32
1332 LNG013 Lung Lymphoma 32
1333 DPT001 Dipetalonemiasis 31
1334 c INF194 Infantile Liver Failure Syndrome 31
1335 c INF161 Inflammatory Bowel Disease 28 31
1336 GRN032 Granulomatous Slack Skin Disease 31
1337 ACT248 Acute Monoblastic/monocytic Leukemia 31
1338 c BNM010 Bone Marrow Failure Syndrome 1 31
1339 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 31
1340 c ATM007 Autoimmune Disease of Central Nervous System 31
1341 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 31
1342 c HYP708 Hyperaldosteronism, Familial, Type Iv 31
1343 ACT176 Acute Panmyelosis with Myelofibrosis 31
1344 ATY012 Atypical Mycobacteriosis, Familial 31
1345 c INF138 Infantile Liver Failure Syndrome 2 31
1346 PTH001 Pthirus Pubis Infestation 30
1347 NLL001 Null-Cell Leukemia 30
1348 c MCL052 Macular Degeneration, Age-Related, 13 30
1349 PLM049 Plummer Vinson Syndrome 30
1350 c GLY023 Glycogen Storage Disease Type 0 30
1351 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 30
1352 SLT017 Solitary Mastocytoma of the Skin 30
1353 c INF086 Inflammatory Bowel Disease 3 30
1354 ACD001 Acidophil Adenoma 30
1355 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 30
1356 SPT002 Septicemic Plague 30
1357 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
1358 c INF160 Inflammatory Bowel Disease 17 29
1359 IMM236 Immune-Mediated Thrombotic Thrombocytopenic Purpura 29
1360 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 29
1361 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 29
1362 CTN027 Cutaneous Mastocytoma 29
1363 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 29
1364 c INF077 Inflammatory Bowel Disease 19 29
1365 PRS108 Persistent Polyclonal B-Cell Lymphocytosis 29
1366 BSP001 Basophil Adenoma 29
1367 NNT007 Neonatal Leukemia 29
1368 c INF089 Inflammatory Bowel Disease 6 29
1369 P INH011 Inherited Bone Marrow Failure Syndromes 28
1370 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 28
1371 P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 28
1372 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
1373 c BNM032 Bone Marrow Failure Syndrome 4 28
1374 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 28
1375 CLS052 Classic Hairy Cell Leukemia 28
1376 c BLY012 B-Lymphoblastic Leukemia/lymphoma with T(9;22)(q34.1;q11.2) 28
1377 EPT007 Epithelial Malignant Thymoma 28
1378 c MCL077 Macular Degeneration, Age-Related, 5 28
1379 c MCL030 Macular Degeneration, Age-Related, 10 28
1380 c LNG052 Long Qt Syndrome 8 28
1381 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
1382 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
1383 c INF075 Inflammatory Bowel Disease 16 27
1384 IMM134 Immunodeficiency, Common Variable, 13 27
1385 c BNM013 Bone Marrow Failure Syndrome 3 27
1386 MTH011 Methionine Adenosyltransferase Deficiency 27
1387 c INF072 Inflammatory Bowel Disease 11 27
1388 c MSM025 Mismatch Repair Cancer Syndrome 4 27
1389 OST008 Osteosclerotic Myeloma 27
1390 LRG008 Large Granular Lymphocyte Leukemia 27
1391 ACT255 Acute Myeloid Leukemia with Bcr-Abl1 27
1392 NDL020 Nodal Marginal Zone B-Cell Lymphoma 27
1393 c TCL024 T-Cell Non-Hodgkin Lymphoma 27
1394 c ACR124 Aicardi-Goutieres Syndrome 9 27
1395 c THR023 Thrombophilia Due to Thrombomodulin Defect 26
1396 c INF078 Inflammatory Bowel Disease 2 26
1397 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1398 c EPD086 Epidermodysplasia Verruciformis 4 26
1399 HYP197 Hypofibrinogenemia, Familial 26
1400 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1401 MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 26
1402 c LVR033 Liver Disease, Severe Congenital 25
1403 PRM247 Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 25
1404 P HFH002 Hfe Hemochromatosis 25
1405 c INF082 Inflammatory Bowel Disease 23 25
1406 ALK017 Alk-Positive Large B-Cell Lymphoma 25
1407 c LNG114 Long Qt Syndrome 16 25
1408 URT017 Ureteral Lymphoma 25
1409 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
1410 c MCL039 Macular Degeneration, Age-Related, 8 25
1411 c INF190 Infantile Liver Failure Syndrome 3 25
1412 c INF067 Inflammatory Bowel Disease 10 25
1413 c MCL040 Macular Degeneration, Age-Related, 3 25
1414 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 25
1415 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1416 c BLD123 Bleeding Disorder, Platelet-Type, 13 25
1417 PLM068 Pulmonary Vein Stenosis 25
1418 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
1419 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1420 c INF092 Inflammatory Bowel Disease 9 24
1421 c INF083 Inflammatory Bowel Disease 24 24
1422 SYS080 Systemic Epstein-Barr Virus Positive T-Cell Lymphoma of Childhood 24
1423 UNC014 Unicentric Castleman Disease 24
1424 c BLY009 B-Lymphoblastic Leukemia/lymphoma, Bcr-Abl1-Like 24
1425 ATN026 Autoinflammatory Syndrome, Familial, with or Without Immunodeficiency 24
1426 c INF068 Inflammatory Bowel Disease 13 24
1427 ACT263 Acute Myeloid Leukemia Without Maturation 24
1428 c MCL065 Macular Degeneration, Age-Related, 15 24
1429 c ATR085 Atrial Fibrillation, Familial, 18 24
1430 c INF074 Inflammatory Bowel Disease 15 24
1431 c SNG012 Singleton-Merten Syndrome 2 24
1432 c ACR123 Aicardi-Goutieres Syndrome 8 24
1433 HDG004 Hodgkin's Granuloma 24
1434 c MCL036 Macular Degeneration, Age-Related, 6 24
1435 SBL003 Subleukemic Leukemia 24
1436 FLL042 Folliculotropic Mycosis Fungoides 23
1437 c INF079 Inflammatory Bowel Disease 20 23
1438 PRT114 Prothrombin Thrombophilia 23
1439 CRT005 Cortical Thymoma 23
1440 c MSM024 Mismatch Repair Cancer Syndrome 3 23
1441 HMC036 Homocystinuria Without Methylmalonic Aciduria 23
1442 c AGM028 Agammaglobulinemia 8b, Autosomal Recessive 23
1443 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 23
1444 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1445 IMM029 Immunodeficiency Due to Defect in Mapbp-Interacting Protein 23
1446 c INF073 Inflammatory Bowel Disease 12 23
1447 CHR680 Chronic Lymphoproliferative Disorder of Natural Killer Cells 23
1448 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 23
1449 RTR005 Retroperitoneal Lymphoma 23
1450 c BNM033 Bone Marrow Failure Syndrome 5 23
1451 c AGM027 Agammaglobulinemia 8a, Autosomal Dominant 23
1452 c ANT010 Anterior Compartment Syndrome 23
1453 P MCL058 Macular Degeneration, Early-Onset 23
1454 c AGM025 Agammaglobulinemia 9, Autosomal Recessive 22
1455 P PLM064 Pulmonary Sequestration 22
1456 c TFR001 Tfr2-Related Hereditary Hemochromatosis 22
1457 c INF195 Inflammatory Bowel Disease 31, Autosomal Recessive 22
1458 c MSM023 Mismatch Repair Cancer Syndrome 2 22
1459 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
1460 c INF162 Inflammatory Bowel Disease 25 22
1461 ALK003 Aleukemic Leukemia Cutis 22
1462 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 22
1463 WRM004 Warm Antibody Hemolytic Anemia 22
1464 AGG011 Aggressive B-Cell Non-Hodgkin Lymphoma 22
1465 c INF085 Inflammatory Bowel Disease 27 22
1466 SMP006 Simple Cryoglobulinemia 21
1467 MDS006 Mediastinal Gray Zone Lymphoma 21
1468 LGH014 Light and Heavy Chain Deposition Disease 21
1469 c ANM034 Anemia, Sideroblastic, 4 21
1470 ADL095 Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies 21
1471 c MCL051 Macular Degeneration, Age-Related, 12 21
1472 c INF087 Inflammatory Bowel Disease 4 21
1473 c BNM034 Bone Marrow Failure Syndrome 6 21
1474 NKD001 Nik Deficiency 21
1475 c INF090 Inflammatory Bowel Disease 7 20
1476 IMM132 Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 20
1477 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 20
1478 CHL158 Childhood Acute Megakaryoblastic Leukemia 20
1479 c AGM026 Agammaglobulinemia 10, Autosomal Dominant 20
1480 ESP015 Esophagus Lymphoma 20
1481 c RRH023 Rare Hereditary Hemochromatosis 20
1482 TLN013 Telangiectasia Macularis Eruptive Perstans 20
1483 c INF080 Inflammatory Bowel Disease 21 20
1484 TBS010 T-B- Severe Combined Immunodeficiency 20
1485 CHR673 Chromosome 14q32 Duplication Syndrome, 700-Kb 19
1486 LRN007 Laron Syndrome with Immunodeficiency 19
1487 c INF081 Inflammatory Bowel Disease 22 19
1488 P PRM299 Primary Cutaneous B-Cell Lymphoma 18
1489 DFF042 Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type 18
1490 c HMG027 Hemoglobin C-Beta-Thalassemia Syndrome 18
1491 TRN013 Transient Neonatal Thrombocytopenia 18
1492 c HMN022 Human T-Cell Leukemia Virus Type 2 18
1493 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 18
1494 MTH049 Methotrexate-Associated Lymphoproliferative Disorders 18
1495 IMM130 Immunoneurologic Disorder, X-Linked 18
1496 BNM035 Bone Marrow Failure and Diabetes Mellitus Syndrome 18
1497 c RNL117 Renal Tubular Acidosis Iii 17
1498 ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 17
1499 c MCL032 Macular Degeneration, Age-Related, 11 17
1500 EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 17
1501 c INF084 Inflammatory Bowel Disease 26 17
1502 c INF091 Inflammatory Bowel Disease 8 17
1503 RCN002 Ricin Poisoning 17
1504 RHN014 Rh-Null, Amorph Type 16
1505 BLY008 B-Lymphoblastic Leukemia/lymphoma with Tcf3-Pbx1 16
1506 ACQ049 Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease 16
1507 c SCN042 Secondary Hypereosinophilic Syndrome 15
1508 P MXD052 Mixed Phenotype Acute Leukemia with T 15
1509 BCL019 B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome 15
1510 RRD019 Rare Deficiency Anemia 15
1511 BLL014 Bullous Diffuse Cutaneous Mastocytosis 14
1512 c ST2001 St2 Diffuse Large B-Cell Lymphoma 14
1513 NNS057 Non-Severe Combined Immunodeficiency 14
1514 STR108 Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome 14
1515 CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 13
1516 c CHR698 Chronic Mast Cell Leukemia 13
1517 GLT042 Glutathione Synthetase Deficiency of Erythrocytes 13
1518 c PRM152 Primary Renal Tubular Acidosis 12
1519 c BLY015 B-Lymphoblastic Leukemia/lymphoma with T(1;19)(q23;p13.3) 12
1520 THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12
1521 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 12
1522 c CNG257 Congenital Pulmonary Sequestration 12
1523 ISL032 Isolated Bone Marrow Mastocytosis 12
1524 IMM215 Immunodeficiency-Associated Lymphoproliferative Disease 12
1525 c LKM053 Leukemia, Chronic Lymphocytic 4 11
1526 c LKM052 Leukemia, Chronic Lymphocytic 5 11
1527 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
1528 c LKM051 Leukemia, Chronic Lymphocytic 3 11
1529 MYL079 Myeloid and Lymphoid Neoplasms Associated with Pdgfrb Rearrangement 11
1530 c SCN047 Secondary Pulmonary Hemosiderosis 10
1531 c N1D001 N1 Diffuse Large B-Cell Lymphoma 10
1532 NTR053 Neutropenia-Monocytopenia-Deafness Syndrome 10
1533 c LKM050 Leukemia, Chronic Lymphocytic 1 10
1534 PRM148 Primary Lymphoma of the Conjunctiva 10
1535 c RRN022 Rare Inflammatory Bowel Disease 10
1536 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 9
1537 c AGM029 Agammaglobulinemia 7 9
1538 ERY007 Erythropoietin Polycythemia 9
1539 MLT106 Multiple Paragangliomas Associated with Polycythemia 9
1540 c CNG628 Congenital Disorder of Glycosylation Iw 9
1541 DND023 Dendritic Cell Sarcoma Not Otherwise Specified 9
1542 ACT267 Acute Myeloid Leukemia with Mutated Runx1 9
1543 MDC003 Medich Giant Platelet Syndrome 9
1544 c AGM032 Agammaglobulinemia 10 9
1545 CDN004 Cadins Disease 8
1546 c SBC015 Subacute Monocytic Leukemia 8
1547 c THR126 Thrombophilia Due to Decreased Release of Plat 8
1548 THR121 Thrombocythemia with Distal Limb Defects 8
1549 UNC013 Unclassified Acute Myeloid Leukemia 8
1550 c INF187 Infectious Disease of the Nervous System 8
1551 c RRP004 Rare Primary Hyperaldosteronism 8
1552 c RRH022 Rare Hereditary Thrombophilia 7
1553 HMG024 Hemoglobinopathy Toms River 7
1554 ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 7
1555 SLT002 Solitary Plasmacytoma of Chest Wall 7
1556 c ACT261 Acute Myeloid Leukemia with Inv(3) (q21.3;q26.2) or T(3;3) (q21.3;q26.2) 7
1557 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 7
1558 c RRC006 Rare Acquired Hemolytic Anemia 7
1559 c AGM031 Agammaglobulinemia 9 7
1560 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 7
1561 LYM152 Lymphoid Hemopathy 7
1562 INT057 Intra-Abdominal Lymph Node Mast Cell Malignancy 7
1563 SMD014 Samd9l-Associated Autoinflammatory Syndrome 7
1564 P DSR041 Disorder of Multiple Glycosylation 6
1565 CHS004 Chest Wall Parachordoma 6
1566 LYM119 Lymphoplasmacytic Lymphoma Without Igm Production 6
1567 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
1568 PST004 Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
1569 c AGM030 Agammaglobulinemia 8a 6
1570 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
1571 F12001 F12-Associated Cold Autoinflammatory Syndrome 6
1572 c AGM033 Agammaglobulinemia 8b 5
1573 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
1574 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 5
1575 ACT266 Acute Myeloid Leukemia with Biallelic Mutation of Cebpa 5
1576 c HMN023 Human T-Cell Leukemia Virus Type 3 5
1577 P RRC007 Rare Constitutional Hemolytic Anemia 5
1578 IMM216 Immunodeficiency Due to a Complement Cascade Protein Anomaly 5
1579 c A53001 A53 Diffuse Large B-Cell Lymphoma 5
1580 CMB110 Combined Immunodeficiency Due to Rela Haploinsufficiency 5
1581 FML368 Familial Hyperinflammatory Lymphoproliferative Immunodeficiency 5
1582 P RRH027 Rare Hypercholesterolemia 5
1583 MCR178 Macrothrombocytopenia with Mitral Valve Insufficiency 5
1584 TYP022 Typical Urticaria Pigmentosa 5
1585 PLQ001 Plaque-Form Urticaria Pigmentosa 5
1586 c RRC002 Rare Acquired Aplastic Anemia 5
1587 ATN020 Autoinflammatory Syndrome with Immune Deficiency 4
1588 TMR024 Tumor of Hematopoietic and Lymphoid Tissues 4
1589 c ALP111 Alpi-Related Inflammatory Bowel Disease 4
1590 LYM154 Lymphoproliferative Disease Associated with Primary Immune Disease 4
1591 SYN173 Syndrome with Alpha-Thalassemia As a Major Feature 4
1592 PRD047 Predisposition to Severe Viral Infection Due to Irf7 Deficiency 4
1593 c CNS020 Constitutional Anemia Due to Iron Metabolism Disorder 4
1594 c RRT010 Rare Thrombotic Disorder Due to a Coagulation Factors Defect 3
1595 c RRT006 Rare Thrombotic Disorder Due to a Constitutional Platelet Anomaly 3
1596 IMM207 Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells 3
1597 c RRT007 Rare Thrombotic Disorder Due to a Platelet Anomaly 3
1598 c RRC031 Rare Constitutional Hemolytic Anemia Due to an Enzyme Disorder 3
1599 c RRT005 Rare Thrombotic Disorder Due to an Acquired Platelet Anomaly 3
1600 c RRT008 Rare Thrombotic Disorder Due to an Acquired Coagulation Factors Defect 3
1601 c RRT009 Rare Thrombotic Disorder Due to a Constitutional Coagulation Factors Defect 3
1602 P RRC005 Rare Constitutional Anemia 3
1603 OTH017 Other Immunodeficiency Syndromes Due to Defects in Innate Immunity 3
1604 CNS015 Constitutional Neutropenia with Extra-Hematopoietic Manifestations 3
1605 IMM210 Immunodeficiency Due to a Complement Cascade Component Deficiency 3
1606 P MNS018 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 34
1607 MYL064 Myeloproliferative/lymphoproliferative Neoplasms, Familial 27
1608 GTL001 Gitelman Syndrome 66
1609 P HYP370 Hypokalemic Periodic Paralysis, Type 1 65
1610 c HYP606 Hypokalemic Periodic Paralysis, Type 2 38
1611 c INT457 Interstitial Lung Disease 2 76
1612 P PTN014 Patent Ductus Arteriosus 1 59
1613 PYR037 Pyruvate Carboxylase Deficiency 48
1614 c INT469 Interstitial Lung Disease 1 27
1615 SCK003 Sickle Cell Anemia 76
1616 MYL069 Myeloma, Multiple 75
1617 P APL001 Aplastic Anemia 74
1618 DFC004 Deficiency Anemia 74
1619 P WSK001 Wiskott-Aldrich Syndrome 72
1620 LYM133 Lymphoma, Hodgkin, Classic 71
1621 c BTT014 Beta-Thalassemia 70
1622 c FNC043 Fanconi Anemia, Complementation Group E 68
1623 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 64
1624 c ANM038 Anemia, Autoimmune Hemolytic 64
1625 FCT002 Factor Xi Deficiency 63
1626 P OST001 Osteopetrosis 63
1627 c PSR021 Psoriasis 14, Pustular 62
1628 ACT119 Acute Promyelocytic Leukemia 61
1629 WLD007 Waldenstroem's Macroglobulinemia 61
1630 P BRN019 Bernard-Soulier Syndrome 61
1631 PRN019 Perinatal Necrotizing Enterocolitis 61
1632 ADN001 Adenosine Deaminase Deficiency 61
1633 P BCL017 B-Cell Lymphoma 61
1634 IRN001 Iron Deficiency Anemia 59
1635 THR100 Thrombocytopenic Purpura, Autoimmune 59
1636 P HMP002 Hemophagocytic Lymphohistiocytosis 59
1637 c ACT073 Acute Leukemia 58
1638 c OST131 Osteopetrosis, Autosomal Dominant 2 58
1639 P ERY048 Erythrocytosis, Familial, 2 58
1640 c FNC042 Fanconi Anemia, Complementation Group D2 58
1641 CMB007 Combined Immunodeficiency 58
1642 GRY002 Gray Platelet Syndrome 57
1643 LNG108 Langerhans Cell Histiocytosis 57
1644 ISV001 Isovaleric Acidemia 57
1645 c OST163 Osteopetrosis, Autosomal Recessive 3 56
1646 c MYS033 Miyoshi Muscular Dystrophy 1 56
1647 DYS165 Dysfibrinogenemia, Congenital 55
1648 ORT008 Orotic Aciduria 54
1649 P ANP001 Anaplastic Large Cell Lymphoma 54
1650 c FNC024 Fanconi Anemia, Complementation Group D1 54
1651 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 54
1652 MRG003 Marginal Zone B-Cell Lymphoma 54
1653 c FNC029 Fanconi Anemia, Complementation Group I 54
1654 CTS003 Coats Disease 53
1655 PRS127 Pearson Marrow-Pancreas Syndrome 53
1656 P MYS079 Miyoshi Muscular Dystrophy 53
1657 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
1658 c FNC025 Fanconi Anemia, Complementation Group J 53
1659 P MNC007 Monocytic Leukemia 53
1660 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
1661 MYL075 Myelodysplastic/myeloproliferative Neoplasm 52
1662 TCL025 T-Cell Immunodeficiency with Thymic Aplasia 52
1663 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
1664 IMM166 Immunodeficiency 27a 52
1665 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 52
1666 PLM017 Pulmonary Alveolar Microlithiasis 52
1667 P MST002 Mast-Cell Leukemia 51
1668 PRP036 Peripheral T-Cell Lymphoma 51
1669 RFT001 Rift Valley Fever 51
1670 c OST126 Osteopetrosis, Autosomal Recessive 1 50
1671 HYR002 Hoyeraal Hreidarsson Syndrome 50
1672 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 50
1673 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 50
1674 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
1675 c PNT037 Pontocerebellar Hypoplasia, Type 3 49
1676 HPR003 Heparin-Induced Thrombocytopenia 49
1677 P HRD012 Hereditary Elliptocytosis 49
1678 FLL013 Follicular Dendritic Cell Sarcoma 49
1679 c PRM226 Primary Central Nervous System Lymphoma 49
1680 HMG002 Hemoglobinuria 49
1681 TCL002 T-Cell Large Granular Lymphocyte Leukemia 49
1682 P CNT005 Central Nervous System Lymphoma 49
1683 NTR036 Neutropenia, Severe Congenital, X-Linked 48
1684 GDS001 Good Syndrome 48
1685 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 48
1686 IMM074 Immunodeficiency 16 48
1687 IMM252 Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation 48
1688 c PNT036 Pontocerebellar Hypoplasia, Type 6 48
1689 c OST129 Osteopetrosis, Autosomal Recessive 2 48
1690 OBS037 Obesity-Hypoventilation Syndrome 47
1691 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 47
1692 c FNC030 Fanconi Anemia, Complementation Group G 47
1693 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 47
1694 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
1695 c OST120 Osteopetrosis, Autosomal Recessive 5 47
1696 P PNT019 Pontocerebellar Hypoplasia 46
1697 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 46
1698 CHR726 Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 46
1699 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
1700 QBC001 Quebec Platelet Disorder 45
1701 c OST136 Osteopetrosis, Autosomal Recessive 7 45
1702 BTT018 Beta-Thalassemia Intermedia 45
1703 PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45
1704 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
1705 c HYP716 Hypermanganesemia with Dystonia 1 45
1706 c MYS014 Miyoshi Muscular Dystrophy 3 44
1707 c OST125 Osteopetrosis, Autosomal Dominant 1 44
1708 P PST059 Pustular Psoriasis 44
1709 IMM180 Immunodeficiency 28 44
1710 c OST134 Osteopetrosis, Autosomal Recessive 6 44
1711 c NPH072 Nephrotic Syndrome, Type 7 44
1712 IMM176 Immunodeficiency with Hyper-Igm, Type 5 44
1713 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
1714 c PNT032 Pontocerebellar Hypoplasia, Type 9 44
1715 P ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 43
1716 c ERY064 Erythrocytosis, Familial, 6 43
1717 TST004 Testicular Lymphoma 43
1718 CHL061 Childhood Leukemia 43
1719 MTR088 Mature T-Cell and Nk-Cell Lymphoma 43
1720 PRT011 Protein C Deficiency 43
1721 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
1722 IMM222 Immunodeficiency 67 43
1723 CTS005 Catastrophic Antiphospholipid Syndrome 43
1724 P PRM293 Primary Mediastinal B-Cell Lymphoma 43
1725 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 42
1726 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
1727 c HYP713 Hypermanganesemia with Dystonia 2 41
1728 IMM142 Immunodeficiency 50 41
1729 HNZ004 Heinz Body Anemias 41
1730 c OST137 Osteopetrosis, Autosomal Recessive 4 41
1731 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
1732 HMN035 Hemangioma-Thrombocytopenia Syndrome 40
1733 IMM099 Immunodeficiency 33 40
1734 ATN011 Autoinflammation with Infantile Enterocolitis 40
1735 P ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 40
1736 MTH064 Methemoglobinemia, Beta-Globin Type 40
1737 HYP267 Hyperchlorhidrosis, Isolated 40
1738 c ERY067 Erythrocytosis, Familial, 8 39
1739 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 39
1740 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
1741 THR123 Thrombotic Microangiopathy 39
1742 c ERY065 Erythrocytosis, Familial, 7 39
1743 IMM181 Immunodeficiency 29 39
1744 LVR002 Liver Angiosarcoma 38
1745 RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 38
1746 CRB138 Core Binding Factor Acute Myeloid Leukemia 38
1747 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
1748 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 38
1749 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
1750 c FML124 Familial Hemophagocytic Lymphohistiocytosis 5 37
1751 IMM076 Immunodeficiency 24 37
1752 THY009 Thyroid Lymphoma 37
1753 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
1754 c ELL005 Elliptocytosis 2 36
1755 SPL011 Spleen Cancer 36
1756 P CHL156 Childhood T-Cell Acute Lymphoblastic Leukemia 36
1757 NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 36
1758 IMM131 Immunodeficiency with Hyper-Igm, Type 4 36
1759 IMM219 Immunodeficiency 57 with Autoinflammation 36
1760 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 35
1761 P BNL002 Bone Lymphoma 35
1762 c PNT053 Pontocerebellar Hypoplasia, Type 13 35
1763 VTM010 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 35
1764 c PRM163 Primary Mediastinal Large B-Cell Lymphoma 35
1765 OVL001 Ovalocytosis, Southeast Asian 35
1766 c OST106 Osteopetrosis, Autosomal Recessive 8 34
1767 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
1768 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 34
1769 IMM182 Immunodeficiency 31a 34
1770 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
1771 BRS001 Breast Lymphoma 34
1772 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
1773 AGM004 Agammaglobulinemia, Non-Bruton Type 34
1774 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 33
1775 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 33
1776 c ELL006 Elliptocytosis 3 33
1777 BRS112 Breast Implant-Associated Anaplastic Large Cell Lymphoma 33
1778 MYL060 Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 33
1779 PRK005 Prekallikrein Deficiency 32
1780 SLC003 Selective Igm Deficiency Disease 31
1781 c PRM374 Primary Cutaneous Gamma-Delta T-Cell Lymphoma 31
1782 c RNL128 Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia 31
1783 CHR375 Chromosome 8p11 Myeloproliferative Syndrome 31
1784 c TRN009 Transient Hypogammaglobulinemia of Infancy 31
1785 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
1786 IMM237 Immunodeficiency 78 with Autoimmunity and Developmental Delay 31
1787 RFR002 Refractory Hairy Cell Leukemia 30
1788 THR101 Thrombocytopenia, Paris-Trousseau Type 30
1789 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1790 P TRN016 Transient Hypogammaglobulinemia 29
1791 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
1792 DND018 Dendritic Cell Tumor 29
1793 MDS019 Mediastinal Malignant Lymphoma 29
1794 CLN005 Colon Lymphoma 29
1795 c EYL003 Eye Lymphoma 28
1796 MLT037 Multifocal Lymphangioendotheliomatosis with Thrombocytopenia 28
1797 AML051 Aml with Myelodysplasia-Related Features 28
1798 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
1799 LVR006 Liver Lymphoma 28
1800 FCL083 Ficolin 3 Deficiency 28
1801 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 28
1802 P HYP821 Hypermanganesemia with Dystonia 27
1803 WRF006 Warfarin Sensitivity, X-Linked 27
1804 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 27
1805 c CNG020 Congenital Hypogammaglobulinemia 27
1806 IMM118 Immunodeficiency 42 27
1807 RFR004 Refractory Hematologic Cancer 27
1808 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
1809 TFR002 Tafro Syndrome 26
1810 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
1811 CMD005 Cimdag Syndrome 26
1812 IMM053 Immunotactoid Glomerulopathy 25
1813 TMP008 Tempi Syndrome 25
1814 MLY011 Maleylacetoacetate Isomerase Deficiency 25
1815 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 25
1816 GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 24
1817 IMM079 Immunodeficiency, Common Variable, 11 24
1818 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 24
1819 INF173 Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy 24
1820 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
1821 GLL013 Gallbladder Lymphoma 23
1822 c PRM301 Primary Cutaneous T-Cell Lymphoma 23
1823 MCD005 Mcd Diffuse Large B-Cell Lymphoma 23
1824 STR014 Sternum Lymphoma 22
1825 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1826 BLC020 Bile Acid Conjugation Defect 1 22
1827 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
1828 CRT060 Cor Triatriatum Sinister 22
1829 c PTN012 Patent Ductus Arteriosus 3 22
1830 IMM226 Immunodeficiency 69 22
1831 c PTN013 Patent Ductus Arteriosus 2 22
1832 c MXD057 Mixed Phenotype Acute Leukemia, B/myeloid 22
1833 PRM128 Primary Cutaneous Follicle Center Lymphoma 21
1834 PRM314 Primary Cutaneous Lymphoma 21
1835 c PNT058 Pontocerebellar Hypoplasia, Type 1f 21
1836 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
1837 IND009 Indeterminate Cell Histiocytosis 21
1838 EZB001 Ezb Diffuse Large B-Cell Lymphoma 21
1839 DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 21
1840 c MYS019 Miyoshi Muscular Dystrophy 2 21
1841 GNT023 Gnathostoma Infection 20
1842 c PSR022 Psoriasis 15, Pustular 20
1843 ACT270 Acute Myeloid Leukemia with Mll Rearrangement 20
1844 c PRM151 Primary Bone Lymphoma 20
1845 PRM133 Primary Pulmonary Lymphoma 19
1846 RCT002 Rectum Lymphoma 19
1847 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 19
1848 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
1849 SVR074 Severe Combined Immunodeficiency Due to Ikk2 Deficiency 18
1850 IMM204 Immuno-Osseous Dysplasia 18
1851 THY006 Thymus Lymphoma 18
1852 P SCK020 Sickle Cell - Hemoglobin D Disease 17
1853 P DST108 Distal Renal Tubular Acidosis with Hemolytic Anemia 16
1854 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 16
1855 c WSK004 Wiskott-Aldrich Syndrome, Autosomal Dominant 16
1856 c BLY013 B-Lymphoblastic Leukemia/lymphoma with T 15
1857 CCM002 Cecum Lymphoma 15
1858 c CLC009 Clcn7-Related Osteopetrosis 14
1859 c ANP011 Anaplastic Small Cell Lymphoma 14
1860 INF188 Inferior Vena Cava Interruption Without Azygos Continuation 14
1861 BLY011 B-Lymphoblastic Leukemia/lymphoma with Recurrent Genetic Abnormality 13
1862 SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 13
1863 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 13
1864 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 13
1865 SCN050 Secondary Non-Traumatic Avascular Necrosis 13
1866 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 13
1867 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 12
1868 P ACT262 Acute Myeloid Leukemia with Inv(16)(p13.1q22) or T(16;16)(p13.1;q22) 12
1869 CNG352 Congenital Stenosis of the Inferior Vena Cava 11
1870 MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 10
1871 ACT199 Acute Myeloid Leukemia with Npm1 Somatic Mutations 8
1872 THR043 Thrombomodulin Anomalies, Familial 8
1873 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1874 c BLY014 B-Lymphoblastic Leukemia/lymphoma with T(12;21)(p13.2;q22.1) 7
1875 NNT060 Neonatal-Onset Severe Multisystemic Autoinflammatory Disease with Increased Il18 7
1876 EZB002 Ezb-Myc+ Diffuse Large B-Cell Lymphoma 7
1877 ANS007 Anus Lymphoma 7
1878 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 7
1879 c BLY016 B-Lymphoblastic Leukemia/lymphoma with T(5;14)(q31.1;q32.3) 6
1880 PRG005 Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma 6
1881 RFR016 Refractory T Lymphoblastic Leukemia/lymphoma 6
1882 BLY007 B-Lymphoblastic Leukemia/lymphoma with Il3-Igh 6
1883 MYL083 Myeloid/lymphoid Neoplasm Associated with Jak2 Rearrangement 6
1884 ACT273 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or 6
1885 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 5
1886 MXD056 Mixed Phenotype Acute Leukemia with Mll Rearranged 5
1887 c TCL008 T-Cell Lymphoma 1a 4
1888 DNR008 Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies 4
1889 MYL082 Myeloid/lymphoid Neoplasms Associated with Eosinophilia and Abnormality of Pdgfra, Pdgfrb, Fgfr1 or Jak2 4
1890 PRM326 Primary Immunodeficiency with Predisposition to Severe Viral Infection 3
1891 RRT004 Rare Thrombotic Disease of Hematologic Origin 3
1892 P LFT003 Left Ventricular Noncompaction 55
1893 c LFT017 Left Ventricular Noncompaction 8 29
1894 c LFT021 Left Ventricular Noncompaction 1 29
1895 c LFT018 Left Ventricular Noncompaction 10 28
1896 c LFT020 Left Ventricular Noncompaction 7 20
1897 c LFT011 Left Ventricular Noncompaction 2 19
1898 P DMN001 Diamond-Blackfan Anemia 74
1899 LYM143 Lymphoma, Non-Hodgkin, Familial 74
1900 c EXD008 Exudative Vitreoretinopathy 1 72
1901 P BRL012 Bare Lymphocyte Syndrome, Type Ii 69
1902 CHD001 Chediak-Higashi Syndrome 69
1903 c PRD013 Periodic Fever, Familial, Autosomal Dominant 68
1904 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 67
1905 MNT001 Mantle Cell Lymphoma 67
1906 BLM001 Bloom Syndrome 66
1907 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 66
1908 MYL031 Myeloproliferative Neoplasm 65
1909 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 65
1910 c DMN023 Diamond-Blackfan Anemia 1 64
1911 MCK007 Muckle-Wells Syndrome 64
1912 HMT002 Hematologic Cancer 64
1913 P PRT008 Proteus Syndrome 63
1914 GT001 Gout 63
1915 HYD038 Hydrops Fetalis, Nonimmune 62
1916 P KDN017 Kidney Cancer 62
1917 BTT017 Beta-Thalassemia Major 61
1918 TRN015 Transient Cerebral Ischemia 61
1919 SZR001 Sezary's Disease 61
1920 FCT006 Factor V Deficiency 60
1921 IMM078 Immunodeficiency 21 59
1922 P PLY011 Polycystic Ovary Syndrome 59
1923 VLV047 Volvulus of Midgut 59
1924 CRT002 Cartilage-Hair Hypoplasia 59
1925 ACT098 Acute Erythroid Leukemia 59
1926 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 59
1927 P ERY008 Erythromelalgia 58
1928 c ERY058 Erythrocytosis, Familial, 1 58
1929 SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 58
1930 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 57
1931 CD4003 Cd40 Ligand Deficiency 56
1932 CPL003 Capillary Leak Syndrome 55
1933 VCS001 Vici Syndrome 55
1934 P HYP050 Hyperinsulinemic Hypoglycemia 55
1935 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 55
1936 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 54
1937 LYM040 Lymphoblastic Lymphoma 53
1938 c BRL011 Bare Lymphocyte Syndrome, Type I 53
1939 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 53
1940 PRT129 Prothrombin Deficiency, Congenital 53
1941 URC002 Urea Cycle Disorder 52
1942 P PLG001 Pelger-Huet Anomaly 52
1943 IMM065 Immunodeficiency 10 52
1944 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52
1945 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
1946 PLM041 Pulmonary Valve Stenosis 51
1947 HPT070 Hepatosplenic T-Cell Lymphoma 51
1948 c FML253 Familial Cold Autoinflammatory Syndrome 3 51
1949 c FNC032 Fanconi Anemia, Complementation Group B 50
1950 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 50
1951 IMM105 Immunodeficiency with Hyper-Igm, Type 3 50
1952 P HMG032 Hemoglobin H Disease 49
1953 EVN001 Evans' Syndrome 49
1954 P PRN026 Porencephaly 49
1955 LYM012 Lymphoplasmacytic Lymphoma 49
1956 PLS025 Plasmablastic Lymphoma 48
1957 AGG012 Aggressive Nk-Cell Leukemia 48
1958 VTM002 Vitamin B12 Deficiency 48
1959 TRN022 Transcobalamin Ii Deficiency 48
1960 CMP004 Complement Factor I Deficiency 48
1961 MTH089 Methylmalonic Aciduria and Homocystinuria, Cblx Type 48
1962 SCT005 Scott Syndrome 47
1963 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 46
1964 IMM104 Immunodeficiency with Hyper-Igm, Type 2 46
1965 HNN001 Hennekam Syndrome 46
1966 CHL152 Childhood Acute Lymphocytic Leukemia 45
1967 RCH001 Richter's Syndrome 45
1968 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 45
1969 IMM066 Immunodeficiency 9 44
1970 BNM001 Bone Marrow Cancer 44
1971 FSR001 Fusariosis 44
1972 DCK002 Dock8 Immunodeficiency Syndrome 44
1973 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 44
1974 c PLY105 Polycystic Ovary Syndrome 1 43
1975 HML058 Hemolytic Disease of Fetus and Newborn, Rh-Induced 43
1976 LYM094 Lymphedema, Primary, with Myelodysplasia 43
1977 BCL002 B Cell Deficiency 42
1978 CMP001 Composite Lymphoma 40
1979 VTM009 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 40
1980 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 39
1981 HMC038 Hemochromatosis, Neonatal 39
1982 TWN001 Twin-to-Twin Transfusion Syndrome 39
1983 GST020 Gastric Antral Vascular Ectasia 39
1984 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 39
1985 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38
1986 IMM143 Immunodeficiency 48 37
1987 EXT007 Extracutaneous Mastocytoma 37
1988 CNG016 Congenital Intrinsic Factor Deficiency 37
1989 HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 36
1990 P BCL013 B-Cell Adult Acute Lymphocytic Leukemia 36
1991 ANR009 Aneurysmal Bone Cysts 35
1992 CMP042 Complement Factor H Deficiency 35
1993 TNP004 Tn Polyagglutination Syndrome 35
1994 CRB001 Cerebral Lymphoma 35
1995 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 35
1996 MTR008 Mature B-Cell Neoplasm 34
1997 c CHL157 Childhood B-Cell Acute Lymphoblastic Leukemia 34
1998 IMM234 Immunodeficiency 26 32
1999 IMM135 Immunodeficiency 46 32
2000 RFM002 Roifman-Chitayat Syndrome 32
2001 P NNT042 Neonatal Lupus Erythematosus 32
2002 c FML084 Familial Porencephaly 30
2003 P FML156 Familial Hyperaldosteronism 30
2004 P HRD214 Hereditary Periodic Fever Syndrome 30
2005 c PRT063 Proteus-Like Syndrome 30
2006 c ALP087 Alpha-Heavy Chain Disease 29
2007 OMS001 Omsk Hemorrhagic Fever 29
2008 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 28
2009 c NNT025 Neonatal Systemic Lupus Erythematosus 28
2010 CNT010 Central Nervous System Hematologic Cancer 28
2011 CHS005 Chest Wall Lymphoma 27
2012 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 27
2013 IMM150 Immunodeficiency 52 27
2014 MYL059 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of Pdgfra, Pdgfrb, and Fgfr1 27
2015 BLD028 Bladder Lymphoma 26
2016 SPN026 Spinal Cord Lymphoma 26
2017 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 26
2018 P BLY002 B-Lymphoblastic Leukemia/lymphoma with Bcr-Abl1 25
2019 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 25
2020 c ACT259 Acute Myeloid Leukemia with T(6;9) (p23;q34.1) 24
2021 BLY010 B-Lymphoblastic Leukemia/lymphoma with Iamp21 24
2022 CMP041 Complement Factor D Deficiency 24
2023 CTR107 Cataract 13 with Adult I Phenotype 24
2024 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 23
2025 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 23
2026 BLY006 B-Lymphoblastic Leukemia/lymphoma with Hypodiploidy 23
2027 LCH010 Lichtenstein Syndrome 22
2028 BLY005 B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy 22
2029 c MNS019 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 22
2030 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 22
2031 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 22
2032 TRC018 Tracheal Lymphoma 21
2033 BLY004 B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 20
2034 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 19
2035 HRM026 Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency 18
2036 CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18
2037 HRM025 Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency 18
2038 c GLY116 Glycosylphosphatidylinositol Biosynthesis Defect 25 18
2039 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 15
2040 c SCN066 Secondary Erythromelalgia 14
2041 MYL018 Myelocytic Leukemia-Like Syndrome, Familial, Chronic 13
2042 BLY017 B-Lymphoblastic Leukemia/lymphoma Mll Rearranged 13
2043 P IDP090 Idiopathic Eosinophilic Pneumonia 12
2044 c PSD024 Pseudo Pelger-Huet Anomaly 11
2045 c ACQ029 Acquired Porencephaly 9
2046 HRM024 Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency 8
2047 c KDN012 Kidney Carcinoma in Situ 7
2048 c FNC027 Fanconi Anemia, Complementation Group a 80
2049 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 73
2050 P HYP061 Hypertrophic Cardiomyopathy 69
2051 P DYS007 Dyskeratosis Congenita 69
2052 P FLL037 Follicular Lymphoma 69
2053 c FML021 Familial Hypercholesterolemia 69
2054 ACR006 Aceruloplasminemia 69
2055 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 68
2056 BRK010 Burkitt Lymphoma 67
2057 SVR066 Severe Combined Immunodeficiency, X-Linked 66
2058 P MST009 Mastocytosis 66
2059 P LYM118 Lymphoma 65
2060 P LKM002 Leukemia 65
2061 NTH001 Netherton Syndrome 62
2062 HNC001 Henoch-Schoenlein Purpura 61
2063 ACQ007 Acquired Immunodeficiency Syndrome 60
2064 DBT084 Diabetes Mellitus, Ketosis-Prone 60
2065 CHR081 Choroideremia 59
2066 P WHM002 Whim Syndrome 1 59
2067 P EPD083 Epidermodysplasia Verruciformis 1 58
2068 P CTS001 Cutis Laxa 57
2069 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
2070 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
2071 IMM246 Immunoglobulin Light Chain Amyloidosis 57
2072 IMM240 Immunodeficiency 14a, Autosomal Dominant 55
2073 CSP005 Caspase 8 Deficiency 55
2074 HYP732 Hyperalphalipoproteinemia 1 55
2075 PRN011 Pernicious Anemia 54
2076 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 54
2077 P HML001 Hemolytic-Uremic Syndrome 53
2078 TCL027 T-Cell Acute Lymphoblastic Leukemia 52
2079 ADL104 Adult T-Cell Leukemia/lymphoma 52
2080 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
2081 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 52
2082 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
2083 IMM064 Immunodeficiency, Common Variable, 10 51
2084 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
2085 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 50
2086 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 49
2087 SPL004 Splenic Marginal Zone Lymphoma 48
2088 P RTN014 Retinal Artery Occlusion 48
2089 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
2090 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
2091 DFN384 Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 48
2092 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
2093 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
2094 GLC036 Glucagonoma 47
2095 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
2096 c PSD092 Pseudohypoaldosteronism, Type Iie 47
2097 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
2098 P PSD003 Pseudohypoaldosteronism 46
2099 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 46
2100 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 46
2101 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 45
2102 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
2103 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
2104 P KRN004 Kernicterus 44
2105 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 44
2106 IMM177 Immunodeficiency 54 44
2107 GST027 Gastric Lymphoma 43
2108 PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 43
2109 c CNT028 Central Retinal Artery Occlusion 43
2110 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 43
2111 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 43
2112 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 43
2113 ASP026 Asplenia, Isolated Congenital 43
2114 MYH015 Myh-9 Related Disease 42
2115 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
2116 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
2117 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 42
2118 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 41
2119 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 41
2120 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 41
2121 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 41
2122 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 40
2123 AMD002 Amed Syndrome, Digenic 40
2124 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 40
2125 WGN007 Wagner Vitreoretinopathy 39
2126 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 39
2127 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
2128 MJD001 Majeed Syndrome 39
2129 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 39
2130 IMM274 Immunodeficiency 103 Fungal Infections 39
2131 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
2132 ESN015 Eosinophilic Fasciitis 38
2133 SRC015 Sarcosinemia 38
2134 IMM077 Immunodeficiency 20 38
2135 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 38
2136 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 37
2137 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 37
2138 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 37
2139 c CRD219 Cardiomyopathy, Infantile Hypertrophic 36
2140 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 36
2141 c PSD080 Pseudohypoaldosteronism Type 1 36
2142 CTS011 Cutis Marmorata Telangiectatica Congenita 35
2143 c ATP003 Atp6v0a2-Related Cutis Laxa 35
2144 GST014 Gastrointestinal Lymphoma 35
2145 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
2146 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 34
2147 ENT008 Enteropathy-Associated T-Cell Lymphoma 34
2148 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 34
2149 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
2150 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 34
2151 SML008 Small Intestine Lymphoma 33
2152 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 33
2153 c PSD093 Pseudohypoaldosteronism, Type Iid 33
2154 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 33
2155 c FML324 Familial Porphyria Cutanea Tarda 32
2156 c PSD090 Pseudohypoaldosteronism, Type Iia 32
2157 c DMN005 Diamond-Blackfan Anemia 2 32
2158 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 32
2159 RTN011 Retina Lymphoma 32
2160 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 31
2161 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
2162 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
2163 CD8002 Cd8 Deficiency, Familial 31
2164 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 29
2165 IMM075 Immunodeficiency 22 29
2166 ACT234 Acute Myeloid Leukemia with Minimal Differentiation 29
2167 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 29
2168 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
2169 c FLL041 Follicular Lymphoma 1 28
2170 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 28
2171 IMM172 Immunodeficiency 34 27
2172 c PSD068 Pseudohypoaldosteronism, Type Iic 27
2173 OVR021 Ovarian Lymphoma 27
2174 c PSD094 Pseudohypoaldosteronism, Type Iib 26
2175 c CRD264 Cardiomyopathy, Familial Hypertrophic, 27 26
2176 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
2177 c EPD085 Epidermodysplasia Verruciformis 3 25
2178 c EPD084 Epidermodysplasia Verruciformis 2 23
2179 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 23
2180 PNC007 Pancreas Lymphoma 22
2181 c TRN053 Transient Pseudohypoaldosteronism 22
2182 c CRD251 Cardiomyopathy, Familial Hypertrophic, 28 22
2183 c ACQ027 Acquired Cutis Laxa 20
2184 c WHM003 Whim Syndrome 2 20
2185 c LTB003 Ltbp4-Related Cutis Laxa 19
2186 c EPD087 Epidermodysplasia Verruciformis 5 19
2187 c FBL003 Fbln5-Related Cutis Laxa 18
2188 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 18
2189 c ELN002 Eln-Related Cutis Laxa 14
2190 c EFM001 Efemp2-Related Cutis Laxa 13
2191 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
2192 c DYS225 Dyskeratosis Congenita, Autosomal Recessive 8 11
2193 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
2194 c KRN003 Kernicterus Due to Isoimmunization 8
2195 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
2196 c RRH034 Rare Hypertrophic Cardiomyopathy 7
2197 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
2198 DVL133 Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome 4
2199 EHR002 Ehrlichiosis 38
2200 P CLR023 Colorectal Cancer 100
2201 P FML018 Familial Mediterranean Fever 75
2202 ABT001 Abetalipoproteinemia 69
2203 c WLM013 Wilms Tumor 1 68
2204 OMN001 Omenn Syndrome 67
2205 c PSD108 Pseudohypoparathyroidism, Type Ia 67
2206 c WLM018 Wilms Tumor 5 66
2207 CHR103 Charge Syndrome 66
2208 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
2209 PLS011 Plasmacytoma 57
2210 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 57
2211 c PSD066 Pseudohypoparathyroidism, Type Ib 56
2212 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 55
2213 STR081 Stormorken Syndrome 55
2214 P PSD015 Pseudohypoparathyroidism 55
2215 HRY003 Hairy Cell Leukemia 55
2216 PHS014 Phosphoglycerate Kinase 1 Deficiency 53
2217 HRP009 Herpes Simplex Encephalitis 52
2218 IMM026 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 51
2219 c XNT010 Xanthinuria, Type I 50
2220 ATR002 Atransferrinemia 50
2221 CHR635 Chromosome 5q Deletion Syndrome 50
2222 PLS016 Plasma Cell Leukemia 50
2223 IMM120 Immunodeficiency 40 48
2224 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 48
2225 CRY008 Cryopyrin-Associated Periodic Syndrome 48
2226 P XNT004 Xanthinuria 47
2227 IMM275 Immunodeficiency 104 47
2228 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 46
2229 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 45
2230 c FML053 Familial Colorectal Cancer 45
2231 IRN004 Iron-Refractory Iron Deficiency Anemia 45
2232 P BCL021 B-Cell Prolymphocytic Leukemia 44
2233 IMM071 Immunodeficiency 12 43
2234 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 41
2235 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 41
2236 c XNT011 Xanthinuria, Type Ii 40
2237 IMM190 Immunodeficiency 55 39
2238 c PSD117 Pseudohypoparathyroidism, Type Ic 38
2239 RFM001 Roifman Syndrome 37
2240 c CNG002 Congenital Bile Acid Synthesis Defect 37
2241 ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 36
2242 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 36
2243 IMM257 Immunodeficiency 7 36
2244 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 35
2245 c CLR077 Colorectal Cancer 10 34
2246 c CLR087 Colorectal Cancer 12 34
2247 c CLR085 Colorectal Cancer 1 33
2248 c FML311 Familial Colorectal Cancer Type X 32
2249 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 31
2250 c CLR075 Colorectal Cancer 3 31
2251 P HRD009 Hereditary Wilms' Tumor 29
2252 c PSD104 Pseudohypoparathyroidism, Type Ii 29
2253 c WLM011 Wilms Tumor 6 27
2254 c FML344 Familial Mediterranean Fever, Autosomal Dominant 26
2255 c WLM005 Wilms Tumor 2 26
2256 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 23
2257 c WLM017 Wilms Tumor 4 21
2258 c CLR079 Colorectal Cancer 2 21
2259 c CLR080 Colorectal Cancer 5 20
2260 c CLR083 Colorectal Cancer 8 19
2261 P DSR081 Disorder of Bile Acid Synthesis 19
2262 c WLM015 Wilms Tumor 3 19
2263 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 19
2264 HRM027 Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency 19
2265 c CLR082 Colorectal Cancer 7 18
2266 c CLR081 Colorectal Cancer 6 17
2267 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
2268 c CLR078 Colorectal Cancer 11 16
2269 c CLR084 Colorectal Cancer 9 16
2270 c FML094 Familial Wilms Tumor 2 15
2271 PRM142 Primary Oculocerebral Lymphoma 11
2272 PPL049 Papillon-Lefevre Syndrome 70
2273 MYC006 Mycosis Fungoides 65
2274 RNL024 Renal Glucosuria 60
2275 LG4001 Lig4 Syndrome 57
2276 LKC005 Leukocyte Adhesion Deficiency, Type Iii 55
2277 c GRS014 Griscelli Syndrome, Type 2 53
2278 FLT011 Felty Syndrome 53
2279 P PRV002 Periventricular Nodular Heterotopia 52
2280 GLT007 Glutathione Synthetase Deficiency 51
2281 ACT095 Acute Biphenotypic Leukemia 50
2282 c GRS013 Griscelli Syndrome, Type 1 48
2283 c PRV019 Periventricular Nodular Heterotopia 1 42
2284 CRD017 Cardiac Valvular Dysplasia, X-Linked 42
2285 c GRS012 Griscelli Syndrome, Type 3 40
2286 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 39
2287 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 35
2288 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 32
2289 LGH004 Light Chain Deposition Disease 30
2290 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 28
2291 c PRV018 Periventricular Nodular Heterotopia 7 27
2292 c PRV022 Periventricular Nodular Heterotopia 9 26
2293 WTL002 Wt Limb-Blood Syndrome 25
2294 c PRV021 Periventricular Nodular Heterotopia 8 22
2295 c PRV016 Periventricular Nodular Heterotopia 6 22
2296 c PRV013 Periventricular Nodular Heterotopia 3 13
2297 P NJM001 Nijmegen Breakage Syndrome 73
2298 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 67
2299 CNC002 Cinca Syndrome 66
2300 MST024 Mastocytosis, Cutaneous 65
2301 SCH016 Schimke Immunoosseous Dysplasia 61
2302 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 56
2303 INT054 Intraocular Lymphoma 49
2304 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 47
2305 VSC050 Vascular Malformation, Primary Intraosseous 34
2306 LKC009 Leukocyte Adhesion Deficiency, Type I 71
2307 IMM179 Immunodeficiency 31c 46
2308 CHR003 Cherubism 58



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