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