# |
Family |
MCID |
Name |
MIFTS |
1 |
c
|
AMY087 |
Amyloidosis, Hereditary, Transthyretin-Related |
67 |
2 |
P
|
HRD207 |
Hereditary Transthyretin Amyloidosis |
32 |
3 |
c
|
BNG006 |
Benign Familial Neonatal Epilepsy |
53 |
4 |
P
|
NNT056 |
Neonatal Epilepsy Syndrome |
5 |
5 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
39 |
6 |
P
|
MTR080 |
Mitral Valve Prolapse 1 |
34 |
7 |
c
|
MTR077 |
Mitral Valve Prolapse 2 |
26 |
8 |
c
|
MTR083 |
Mitral Valve Prolapse 3 |
21 |
9 |
c
|
PRM012 |
Primary Polycythemia |
57 |
10 |
P
|
PLY018 |
Polycythemia |
55 |
11 |
c
|
PRG126 |
Progressive Familial Heart Block |
53 |
12 |
c
|
FML363 |
Familial Adult Myoclonic Epilepsy |
44 |
13 |
c
|
ACQ010 |
Acquired Polycythemia |
43 |
14 |
P
|
FML279 |
Familial Isolated Arrhythmogenic Right Ventricular Dysplasia |
33 |
15 |
c
|
ATS209 |
Autosomal Dominant Secondary Polycythemia |
23 |
16 |
c
|
CNG266 |
Congenital Secondary Polycythemia |
9 |
17 |
c
|
ACQ028 |
Acquired Secondary Polycythemia |
9 |
18 |
c
|
PLY005 |
Polycythemia Due to Hypoxia |
6 |
19 |
P
|
CRD132 |
Cardiac Conduction Defect |
61 |
20 |
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
58 |
21 |
c
|
CRB051 |
Cerebral Cavernous Malformation, Familial |
38 |
22 |
c
|
FML250 |
Familial Progressive Cardiac Conduction Defect |
29 |
23 |
|
RGH011 |
Right Pulmonary Artery, Anomalous Origin of, Familial |
13 |
24 |
P
|
EPL164 |
Epilepsy |
71 |
25 |
P
|
BNG026 |
Benign Neonatal Seizures |
51 |
26 |
c
|
BNG023 |
Benign Familial Infantile Epilepsy |
49 |
27 |
c
|
INF185 |
Infantile Epilepsy Syndrome |
32 |
28 |
c
|
ATM114 |
Autoimmune Epilepsy |
29 |
29 |
c
|
RRP028 |
Rare Epilepsy |
16 |
30 |
c
|
KCN020 |
Kcnt1-Related Epilepsy |
14 |
31 |
c
|
DPD002 |
Depdc5-Related Epilepsy |
13 |
32 |
c
|
INF177 |
Inflammatory and Autoimmune Disease with Epilepsy |
5 |
33 |
c
|
INF176 |
Infectious Disease with Epilepsy |
4 |
34 |
c
|
FBR074 |
Febrile Seizures, Familial, 6 |
29 |
35 |
|
CNV009 |
Convulsions Benign Familial Neonatal Dominant Form |
27 |
36 |
c
|
FBR071 |
Febrile Seizures, Familial, 5 |
27 |
37 |
c
|
FBR068 |
Febrile Seizures, Familial, 10 |
19 |
38 |
P
|
NTR004 |
Neutropenia |
61 |
39 |
c
|
SVR003 |
Severe Congenital Neutropenia |
58 |
40 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
51 |
41 |
c
|
SVR107 |
Severe Congenital Neutropenia 3 |
44 |
42 |
c
|
SVR110 |
Severe Congenital Neutropenia 4 |
39 |
43 |
c
|
SVR106 |
Severe Congenital Neutropenia 5 |
37 |
44 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
37 |
45 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
36 |
46 |
c
|
ATS483 |
Autosomal Dominant Severe Congenital Neutropenia |
33 |
47 |
c
|
NTR054 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
33 |
48 |
c
|
SVR104 |
Severe Congenital Neutropenia 7 |
31 |
49 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
30 |
50 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
29 |
51 |
c
|
SVR109 |
Severe Congenital Neutropenia 8 |
28 |
52 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
27 |
53 |
|
VSC049 |
Visceral Myopathy, Familial, with External Ophthalmoplegia |
26 |
54 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
55 |
c
|
SVR108 |
Severe Congenital Neutropenia 6 |
25 |
56 |
c
|
NTR056 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
23 |
57 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
22 |
58 |
c
|
SVR103 |
Severe Congenital Neutropenia 1 |
20 |
59 |
|
SYN062 |
Syncope, Familial Vasovagal |
19 |
60 |
c
|
ACQ053 |
Acquired Neutropenia |
17 |
61 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
17 |
62 |
c
|
SVR105 |
Severe Congenital Neutropenia 2 |
16 |
63 |
c
|
ELN001 |
Elane-Related Neutropenia |
13 |
64 |
c
|
FML001 |
Familial Atrial Fibrillation |
67 |
65 |
P
|
FRT001 |
Fourth Cranial Nerve Palsy |
31 |
66 |
|
JNT001 |
Joint Laxity, Familial |
26 |
67 |
c
|
FRT006 |
Fourth Cranial Nerve Palsy, Familial Congenital |
17 |
68 |
P
|
FBR031 |
Febrile Seizures |
52 |
69 |
P
|
ATT003 |
Attenuated Familial Adenomatous Polyposis |
43 |
70 |
c
|
FBR073 |
Febrile Seizures, Familial, 1 |
32 |
71 |
|
DRM050 |
Dermographism, Familial |
29 |
72 |
c
|
FBR067 |
Febrile Seizures, Familial, 9 |
26 |
73 |
c
|
FML309 |
Familial Infantile Bilateral Striatal Necrosis |
23 |
74 |
c
|
FBR076 |
Febrile Seizures, Familial, 7 |
22 |
75 |
c
|
SZR011 |
Seizures, Benign Familial Infantile, 4 |
12 |
76 |
c
|
PRM005 |
Primary Hyperparathyroidism |
58 |
77 |
P
|
FML023 |
Familial Hemiplegic Migraine |
54 |
78 |
P
|
PRD021 |
Periodic Paralysis |
43 |
79 |
|
FML307 |
Familial Calcium Pyrophosphate Deposition |
40 |
80 |
P
|
FML156 |
Familial Hyperaldosteronism |
30 |
81 |
c
|
FML213 |
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form |
25 |
82 |
|
CPP001 |
Copper Deficiency, Familial Benign |
20 |
83 |
|
FML254 |
Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion |
18 |
84 |
|
MYL018 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
13 |
85 |
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
55 |
86 |
c
|
ERL029 |
Early-Onset, Autosomal Dominant Alzheimer Disease |
52 |
87 |
P
|
PRN026 |
Porencephaly |
49 |
88 |
P
|
VRT013 |
Vertigo, Benign Recurrent |
48 |
89 |
c
|
FML084 |
Familial Porencephaly |
30 |
90 |
P
|
FML313 |
Familial Progressive Hyperpigmentation |
19 |
91 |
c
|
VRT008 |
Vertigo, Benign Recurrent, 2 |
10 |
92 |
c
|
ACQ029 |
Acquired Porencephaly |
9 |
93 |
c
|
ART138 |
Aortic Aneurysm, Familial Abdominal, 1 |
63 |
94 |
c
|
LPM012 |
Lipomatosis, Multiple |
60 |
95 |
P
|
CND004 |
Candidiasis |
58 |
96 |
P
|
LPM005 |
Lipomatosis |
46 |
97 |
c
|
FML350 |
Familial Febrile Seizures |
32 |
98 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
29 |
99 |
c
|
CND033 |
Candidiasis, Familial, 1 |
28 |
100 |
P
|
HRD084 |
Hereditary Cerebral Amyloid Angiopathy |
27 |
101 |
|
FML206 |
Familial Cerebral Saccular Aneurysm |
25 |
102 |
c
|
FML348 |
Familial Pityriasis Rubra Pilaris |
24 |
103 |
|
LNT008 |
Lentiginosis, Inherited Patterned |
22 |
104 |
|
GGN006 |
Gigantiform Cementoma, Familial |
21 |
105 |
c
|
FML334 |
Familial Candidiasis |
17 |
106 |
c
|
FCL065 |
Facial Palsy, Familial Recurrent Peripheral |
16 |
107 |
|
DWR023 |
Dwarfism, Familial, with Muscle Spasms |
14 |
108 |
c
|
FML155 |
Familial Acute Myeloid Leukemia with Mutated Cebpa |
13 |
109 |
|
SYN087 |
Synovial Chondromatosis, Familial, with Dwarfism |
12 |
110 |
|
GNV002 |
Genu Valgum, St. Helena Familial |
12 |
111 |
P
|
RCR003 |
Recurrent Peripheral Facial Palsy |
9 |
112 |
P
|
ACT271 |
Acute Myeloid Leukemia with Mutated Cebpa |
8 |
113 |
P
|
PRP003 |
Porphyria Cutanea Tarda |
68 |
114 |
P
|
AMY004 |
Amyloidosis |
66 |
115 |
P
|
HYP097 |
Hyperekplexia |
61 |
116 |
|
LPM010 |
Lipomatosis, Multiple Symmetric |
45 |
117 |
P
|
INT260 |
Intracranial Berry Aneurysm |
42 |
118 |
c
|
HRD039 |
Hereditary Amyloidosis |
42 |
119 |
|
LRY047 |
Laryngeal Abductor Paralysis |
33 |
120 |
c
|
FML324 |
Familial Porphyria Cutanea Tarda |
32 |
121 |
c
|
PRP091 |
Porphyria Cutanea Tarda, Type I |
32 |
122 |
|
DCR010 |
Dicer1 Tumor Predisposition |
23 |
123 |
|
CLL041 |
Collagenoma, Familial Cutaneous |
23 |
124 |
|
CRN069 |
Corneal Hypesthesia, Familial |
20 |
125 |
|
MCR031 |
Macrocephaly, Benign Familial |
19 |
126 |
c
|
PRM150 |
Primary Localized Amyloidosis |
18 |
127 |
c
|
ART152 |
Aortic Aneurysm, Familial Abdominal, 3 |
15 |
128 |
c
|
SZR024 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
12 |
129 |
|
OSS006 |
Ossicular Malformations, Familial |
11 |
130 |
|
CBP001 |
Cebpa-Associated Familial Acute Myeloid Leukemia |
10 |
131 |
|
FML086 |
Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect |
7 |
132 |
c
|
RRF013 |
Rare Familial Disorder with Hypertrophic Cardiomyopathy |
7 |
133 |
|
FML088 |
Familial Streblodactyly |
6 |
134 |
P
|
ANT006 |
Antiphospholipid Syndrome |
55 |
135 |
P
|
HYP076 |
Hyperthyroidism |
53 |
136 |
|
STT041 |
Stuttering |
53 |
137 |
c
|
GNR043 |
Generalized Epilepsy with Febrile Seizures Plus, Type 7 |
47 |
138 |
P
|
HYP078 |
Hypertrophy of Breast |
47 |
139 |
c
|
FML053 |
Familial Colorectal Cancer |
45 |
140 |
P
|
FML186 |
Familial Paroxysmal Nonkinesigenic Dyskinesia |
41 |
141 |
c
|
CLR077 |
Colorectal Cancer 10 |
34 |
142 |
c
|
FML067 |
Familial Hyperthyroidism Due to Mutations in Tsh Receptor |
34 |
143 |
c
|
CLR087 |
Colorectal Cancer 12 |
34 |
144 |
c
|
GNR034 |
Generalized Epilepsy with Febrile Seizures Plus, Type 9 |
33 |
145 |
c
|
CLR085 |
Colorectal Cancer 1 |
33 |
146 |
c
|
CLR075 |
Colorectal Cancer 3 |
31 |
147 |
c
|
GNR040 |
Generalized Epilepsy with Febrile Seizures Plus, Type 4 |
27 |
148 |
|
HYP197 |
Hypofibrinogenemia, Familial |
26 |
149 |
c
|
GNR046 |
Generalized Epilepsy with Febrile Seizures Plus, Type 10 |
25 |
150 |
|
PTL010 |
Patella Aplasia-Hypoplasia |
24 |
151 |
c
|
GNR013 |
Generalized Epilepsy with Febrile Seizures Plus, Type 6 |
23 |
152 |
|
ESN023 |
Eosinophilia, Familial |
23 |
153 |
c
|
ANT041 |
Antiphospholipid Syndrome, Familial |
21 |
154 |
c
|
CLR079 |
Colorectal Cancer 2 |
21 |
155 |
c
|
CLR080 |
Colorectal Cancer 5 |
20 |
156 |
c
|
HYP678 |
Hypertrophy of the Breast, Juvenile |
20 |
157 |
c
|
CLR083 |
Colorectal Cancer 8 |
19 |
158 |
c
|
CLR082 |
Colorectal Cancer 7 |
18 |
159 |
c
|
GNR042 |
Generalized Epilepsy with Febrile Seizures Plus, Type 8 |
17 |
160 |
c
|
CLR081 |
Colorectal Cancer 6 |
17 |
161 |
c
|
CLR078 |
Colorectal Cancer 11 |
16 |
162 |
c
|
CLR084 |
Colorectal Cancer 9 |
16 |
163 |
c
|
RRH008 |
Rare Hyperthyroidism |
8 |
164 |
P
|
APL001 |
Aplastic Anemia |
74 |
165 |
P
|
VSC005 |
Vesicoureteral Reflux |
50 |
166 |
P
|
THY061 |
Thyroid Dyshormonogenesis 2a |
46 |
167 |
P
|
FML361 |
Familial Woolly Hair Syndrome |
44 |
168 |
c
|
FML297 |
Familial Thyroid Dyshormonogenesis |
44 |
169 |
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
36 |
170 |
c
|
THY063 |
Thyroid Dyshormonogenesis 4 |
36 |
171 |
c
|
THY056 |
Thyroid Dyshormonogenesis 3 |
35 |
172 |
c
|
THY110 |
Thyroid Dyshormonogenesis 6 |
35 |
173 |
P
|
HYP120 |
Hypoaldosteronism |
35 |
174 |
c
|
WLL018 |
Woolly Hair, Autosomal Dominant |
31 |
175 |
|
NPP006 |
Nipples, Supernumerary |
31 |
176 |
c
|
VSC019 |
Vesicoureteral Reflux 1 |
30 |
177 |
|
ACT256 |
Actg2 Visceral Myopathy |
26 |
178 |
c
|
THY062 |
Thyroid Dyshormonogenesis 5 |
26 |
179 |
c
|
VSC025 |
Vesicoureteral Reflux 3 |
25 |
180 |
c
|
VSC020 |
Vesicoureteral Reflux 2 |
25 |
181 |
c
|
WLL035 |
Woolly Hair, Autosomal Recessive 3 |
25 |
182 |
|
CLL039 |
Collagenosis, Familial Reactive Perforating |
24 |
183 |
P
|
FML367 |
Familial Hypercholanemia |
24 |
184 |
c
|
VSC046 |
Vesicoureteral Reflux 8 |
22 |
185 |
|
CRR016 |
Cirrhosis, Familial |
22 |
186 |
|
FML325 |
Familial Cervical Artery Dissection |
21 |
187 |
|
ANG063 |
Angiolipomatosis, Familial |
19 |
188 |
c
|
CNG619 |
Congenital Aplastic Anemia |
19 |
189 |
c
|
FML284 |
Familial Vesicoureteral Reflux |
19 |
190 |
|
FML369 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
17 |
191 |
|
VST008 |
Vestibulocochlear Dysfunction, Progressive |
15 |
192 |
c
|
ERL059 |
Early-Onset Familial Hypoaldosteronism |
14 |
193 |
c
|
LTN026 |
Late-Onset Familial Hypoaldosteronism |
14 |
194 |
c
|
VSC043 |
Vesicoureteral Reflux 6 |
13 |
195 |
c
|
VSC042 |
Vesicoureteral Reflux 5 |
12 |
196 |
|
FML159 |
Familial Periodic Paralyses |
12 |
197 |
c
|
VSC041 |
Vesicoureteral Reflux 7 |
11 |
198 |
c
|
VSC040 |
Vesicoureteral Reflux 4 |
11 |
199 |
|
FML329 |
Familial Caudal Dysgenesis |
11 |
200 |
c
|
RRC002 |
Rare Acquired Aplastic Anemia |
5 |
201 |
c
|
RRH005 |
Rare Hypoaldosteronism |
4 |
202 |
c
|
MGR028 |
Migraine with or Without Aura 1 |
67 |
203 |
c
|
PSD122 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
57 |
204 |
P
|
HYP040 |
Hypospadias |
55 |
205 |
P
|
KRT005 |
Keratoacanthoma |
52 |
206 |
c
|
PSD112 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
50 |
207 |
P
|
ERY036 |
Erythema Nodosum |
50 |
208 |
P
|
MGR001 |
Migraine Without Aura |
48 |
209 |
P
|
PSD003 |
Pseudohypoaldosteronism |
46 |
210 |
|
PRP007 |
Priapism |
46 |
211 |
|
CYC008 |
Cyclic Vomiting Syndrome |
42 |
212 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
41 |
213 |
P
|
FML340 |
Familial Episodic Pain Syndrome |
39 |
214 |
|
KLN009 |
Kleine-Levin Hibernation Syndrome |
38 |
215 |
c
|
PSD080 |
Pseudohypoaldosteronism Type 1 |
36 |
216 |
c
|
ALZ057 |
Alzheimer Disease 10 |
35 |
217 |
c
|
ARR049 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
34 |
218 |
|
CFL005 |
Cafe-Au-Lait Spots, Multiple |
33 |
219 |
c
|
PSD090 |
Pseudohypoaldosteronism, Type Iia |
32 |
220 |
|
ATY012 |
Atypical Mycobacteriosis, Familial |
31 |
221 |
c
|
ALZ012 |
Alzheimer Disease 12 |
29 |
222 |
c
|
PSD068 |
Pseudohypoaldosteronism, Type Iic |
27 |
223 |
c
|
FML272 |
Familial Sick Sinus Syndrome |
27 |
224 |
c
|
PSD094 |
Pseudohypoaldosteronism, Type Iib |
26 |
225 |
P
|
HYD015 |
Hydroa Vacciniforme |
26 |
226 |
c
|
ALZ016 |
Alzheimer Disease 8 |
26 |
227 |
|
RHZ008 |
Rhizomelic Syndrome |
24 |
228 |
c
|
FML223 |
Familial Keratoacanthoma |
24 |
229 |
|
FML215 |
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form |
23 |
230 |
|
FML214 |
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form |
23 |
231 |
c
|
ALZ053 |
Alzheimer Disease 7 |
23 |
232 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
22 |
233 |
|
GNT044 |
Genetic Atypical Hemolytic-Uremic Syndrome |
22 |
234 |
P
|
CMP101 |
Complex Hereditary Spastic Paraplegia |
22 |
235 |
c
|
MGR036 |
Migraine with or Without Aura 2 |
21 |
236 |
c
|
ART068 |
Aortic Aneurysm, Familial Thoracic 2 |
21 |
237 |
|
FBR089 |
Fibrosclerosis, Multifocal |
19 |
238 |
P
|
PRH002 |
Pure Hereditary Spastic Paraplegia |
18 |
239 |
|
HRS037 |
Hirschsprung Disease with Type D Brachydactyly |
18 |
240 |
c
|
MGR042 |
Migraine with or Without Aura 13 |
18 |
241 |
c
|
MGR023 |
Migraine Without Aura 4 |
18 |
242 |
c
|
MGR022 |
Migraine with or Without Aura 3 |
18 |
243 |
c
|
MGR024 |
Migraine with or Without Aura 5 |
17 |
244 |
c
|
AXN008 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
17 |
245 |
c
|
CND027 |
Candidiasis, Familial, 3 |
16 |
246 |
|
FML079 |
Familial Nasal Acilia |
16 |
247 |
c
|
MGR040 |
Migraine with or Without Aura 12 |
16 |
248 |
c
|
MGR038 |
Migraine with or Without Aura 10 |
15 |
249 |
c
|
MGR037 |
Migraine with or Without Aura 8 |
15 |
250 |
c
|
MGR039 |
Migraine with or Without Aura 11 |
15 |
251 |
|
HYP786 |
Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy |
14 |
252 |
|
CMD004 |
Comedones, Familial Dyskeratotic |
14 |
253 |
c
|
HYP545 |
Hypospadias 3, Autosomal |
14 |
254 |
|
CMP022 |
Camptodactyly Taurinuria |
14 |
255 |
c
|
ERY057 |
Erythema Nodosum, Familial |
14 |
256 |
c
|
ATS470 |
Autosomal Dominant Pure Spastic Paraplegia |
14 |
257 |
c
|
ATS154 |
Autosomal Recessive Complex Spastic Paraplegia |
14 |
258 |
c
|
ART151 |
Aortic Aneurysm, Familial Abdominal, 2 |
13 |
259 |
|
EPL014 |
Epilepsy, Partial, Familial |
13 |
260 |
c
|
PLM183 |
Pulmonary Hypoplasia, Familial Primary |
13 |
261 |
|
HYP746 |
Hypersecretion of Adrenal Androgens, Familial |
12 |
262 |
c
|
SZR025 |
Seizures, Benign Familial Neonatal, 3 |
12 |
263 |
c
|
PSD124 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
12 |
264 |
c
|
HYD016 |
Hydroa Vacciniforme, Familial |
12 |
265 |
c
|
PSD123 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
11 |
266 |
|
NGY001 |
Nguyen Syndrome |
10 |
267 |
P
|
PRR040 |
Pure or Complex Hereditary Spastic Paraplegia |
10 |
268 |
c
|
PRR042 |
Pure or Complex Autosomal Recessive Spastic Paraplegia |
9 |
269 |
c
|
ATS471 |
Autosomal Dominant Complex Spastic Paraplegia |
8 |
270 |
|
UMB003 |
Umbilicus, Familial Flat |
8 |
271 |
c
|
ATS153 |
Autosomal Recessive Pure Spastic Paraplegia |
7 |
272 |
|
HYP694 |
Hyperreninemic Hypoaldosteronism, Familial, 2 |
7 |
273 |
|
LTR010 |
Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities |
6 |
274 |
c
|
PRR041 |
Pure or Complex Autosomal Dominant Spastic Paraplegia |
4 |
275 |
|
RGH002 |
Right Atrium Familial Dilatation |
4 |
276 |
|
FML082 |
Familial Partial Paralysis |
2 |
277 |
P
|
FML362 |
Familial Isolated Hypoparathyroidism |
39 |
278 |
|
ANR043 |
Aniridia and Absent Patella |
19 |
279 |
|
ULN021 |
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet |
18 |
280 |
P
|
THY023 |
Thymoma |
65 |
281 |
P
|
SHR029 |
Short Syndrome |
63 |
282 |
P
|
LNG028 |
Long Qt Syndrome |
63 |
283 |
c
|
ESS001 |
Essential Tremor |
55 |
284 |
c
|
CNT075 |
Central Precocious Puberty |
52 |
285 |
|
CRY008 |
Cryopyrin-Associated Periodic Syndrome |
48 |
286 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
46 |
287 |
P
|
PRC019 |
Precocious Puberty |
46 |
288 |
c
|
SHR030 |
Short Qt Syndrome |
44 |
289 |
|
CNG064 |
Congenital Chloride Diarrhea |
34 |
290 |
c
|
PRC046 |
Precocious Puberty, Central, 2 |
33 |
291 |
|
MYH016 |
Myh-Associated Polyposis |
33 |
292 |
|
FML258 |
Familial Acute Necrotizing Encephalopathy |
31 |
293 |
c
|
PRC047 |
Precocious Puberty, Central, 1 |
30 |
294 |
c
|
THY107 |
Thymoma, Familial |
30 |
295 |
c
|
SHR032 |
Short Qt Syndrome 2 |
30 |
296 |
c
|
SHR033 |
Short Qt Syndrome 3 |
29 |
297 |
c
|
FML306 |
Familial or Sporadic Hemiplegic Migraine |
29 |
298 |
c
|
INV003 |
Invasive Malignant Thymoma |
29 |
299 |
|
FLR003 |
Florid Cemento-Osseous Dysplasia |
28 |
300 |
c
|
SHR031 |
Short Qt Syndrome 1 |
27 |
301 |
c
|
TYP010 |
Type C Thymoma |
23 |
302 |
|
GLC053 |
Glucocorticoid Deficiency 3 |
21 |
303 |
|
ANK015 |
Ankylosing Vertebral Hyperostosis with Tylosis |
20 |
304 |
|
UPN001 |
Upington Disease |
19 |
305 |
|
CHR363 |
Chromosome 17q23.1-Q23.2 Duplication Syndrome |
19 |
306 |
c
|
AKT001 |
Akt2-Related Familial Partial Lipodystrophy |
16 |
307 |
c
|
HYP563 |
Hyperpigmentation, Familial Progressive, 1 |
16 |
308 |
c
|
FML275 |
Familial Hypoaldosteronism |
15 |
309 |
c
|
TRC094 |
Trichoepithelioma, Multiple Familial, 2 |
15 |
310 |
c
|
HYP842 |
Hyperlipidemia, Familial Combined, 2 |
14 |
311 |
c
|
THY085 |
Thymoma Type a |
14 |
312 |
P
|
LTN003 |
Late-Onset Familial Alzheimer Disease |
14 |
313 |
c
|
THY087 |
Thymoma Type Ab |
13 |
314 |
c
|
XNC002 |
X Inactivation, Familial Skewed, 2 |
11 |
315 |
|
FML202 |
Familial Alzheimer-Like Prion Disease |
11 |
316 |
c
|
SCN039 |
Secondary Central Precocious Puberty |
10 |
317 |
|
FML336 |
Familial Patent Arterial Duct |
10 |
318 |
c
|
THY086 |
Thymoma Type B |
9 |
319 |
|
BNG066 |
Benign Familial Mesial Temporal Lobe Epilepsy |
8 |
320 |
c
|
RRP025 |
Rare Precocious Puberty |
7 |
321 |
|
LSS032 |
Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome |
7 |
322 |
c
|
MLG040 |
Malignant Type Ab Thymoma |
6 |
323 |
c
|
MLG034 |
Malignant Type a Thymoma |
6 |
324 |
|
FML194 |
Familial Clubfoot with or Without Associated Lower Limb Anomalies |
6 |
325 |
|
FML216 |
Familial Isolated Clinodactyly of Fingers |
4 |
326 |
|
FML200 |
Familial Omphalocele Syndrome with Facial Dysmorphism |
4 |
327 |
P
|
RTN024 |
Retinoblastoma |
75 |
328 |
c
|
WLM013 |
Wilms Tumor 1 |
68 |
329 |
c
|
WLM018 |
Wilms Tumor 5 |
66 |
330 |
P
|
TTH002 |
Tooth Agenesis |
63 |
331 |
P
|
HYP069 |
Hyperparathyroidism |
63 |
332 |
c
|
CHL140 |
Chilblain Lupus 1 |
56 |
333 |
P
|
LCH002 |
Lichen Planus |
54 |
334 |
P
|
CHN059 |
Chondrocalcinosis |
52 |
335 |
|
HMZ003 |
Homozygous Familial Hypercholesterolemia |
52 |
336 |
P
|
OVR049 |
Ovarian Disease |
52 |
337 |
c
|
FML008 |
Familial Retinoblastoma |
50 |
338 |
c
|
SCN007 |
Secondary Hyperparathyroidism |
50 |
339 |
P
|
OTS001 |
Otosclerosis |
50 |
340 |
P
|
ACT008 |
Actinic Keratosis |
49 |
341 |
c
|
FML191 |
Familial Long Qt Syndrome |
48 |
342 |
c
|
HYP243 |
Hyperparathyroidism 1 |
46 |
343 |
P
|
RNL017 |
Renal Oncocytoma |
45 |
344 |
P
|
OBS001 |
Obstructive Jaundice |
43 |
345 |
P
|
HMF004 |
Hemifacial Spasm |
42 |
346 |
|
DFF021 |
Diffuse Mesangial Sclerosis |
41 |
347 |
c
|
FML294 |
Familial Short Qt Syndrome |
40 |
348 |
P
|
CLS010 |
Cluster Headache |
39 |
349 |
c
|
ALZ058 |
Alzheimer Disease 11 |
37 |
350 |
|
CNS013 |
Constricting Bands, Congenital |
37 |
351 |
|
TRN030 |
Transient Erythroblastopenia of Childhood |
35 |
352 |
|
NND010 |
Nondisjunction |
33 |
353 |
|
CRT064 |
Corticosterone Methyloxidase Deficiency |
31 |
354 |
c
|
FML355 |
Familial Intrahepatic Cholestasis |
31 |
355 |
c
|
MNS014 |
Monosomy 22 |
30 |
356 |
P
|
GLM006 |
Glomangioma |
30 |
357 |
|
MYL057 |
Myelopathy, Htlv-1-Associated |
29 |
358 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
29 |
359 |
c
|
SPS091 |
Spastic Paraplegia 4 |
29 |
360 |
|
LPM007 |
Lipomyelomeningocele |
27 |
361 |
c
|
WLM011 |
Wilms Tumor 6 |
27 |
362 |
c
|
HYP720 |
Hyperparathyroidism 4 |
27 |
363 |
|
PRF005 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
26 |
364 |
P
|
FML337 |
Familial Chilblain Lupus |
26 |
365 |
|
GNS004 |
Geniospasm 1 |
26 |
366 |
c
|
OTS005 |
Otosclerosis 1 |
26 |
367 |
c
|
WLM005 |
Wilms Tumor 2 |
26 |
368 |
|
SPN354 |
Spinal Arachnoiditis |
25 |
369 |
|
BRR012 |
Berardinelli-Seip Congenital Lipodystrophy |
25 |
370 |
|
LRY046 |
Laryngeal Web, Familial |
25 |
371 |
c
|
INH032 |
Inherited Human Prion Disease |
25 |
372 |
|
DRM041 |
Dermoid Cysts, Familial Frontonasal |
25 |
373 |
c
|
FML025 |
Familial Glomangioma |
25 |
374 |
c
|
MNS008 |
Monosomy 21 |
24 |
375 |
|
ZNC006 |
Zinc, Elevated Plasma |
24 |
376 |
c
|
CHL114 |
Chilblain Lupus 2 |
23 |
377 |
|
PLY135 |
Polydactyly, Postaxial, with Progressive Myopia |
23 |
378 |
c
|
SPR070 |
Sporadic Infantile Bilateral Striatal Necrosis |
22 |
379 |
|
ACH015 |
Achalasia, Familial Esophageal |
22 |
380 |
c
|
MNS011 |
Monosomy 9q22.3 |
22 |
381 |
c
|
SCN048 |
Secondary Syringomyelia |
22 |
382 |
c
|
ATR026 |
Atrial Fibrillation, Familial, 1 |
22 |
383 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
21 |
384 |
c
|
HRD198 |
Hereditary Dystonia |
21 |
385 |
c
|
WLM017 |
Wilms Tumor 4 |
21 |
386 |
c
|
GLM014 |
Glomerulopathy with Fibronectin Deposits 1 |
20 |
387 |
|
RTN078 |
Retinoschisis of Fovea |
19 |
388 |
c
|
WLM015 |
Wilms Tumor 3 |
19 |
389 |
c
|
MGR033 |
Migraine with or Without Aura 6 |
19 |
390 |
P
|
ATS469 |
Autosomal Monosomy |
19 |
391 |
c
|
FML028 |
Familial Renal Oncocytoma |
19 |
392 |
|
HND005 |
Hand and Foot Deformity with Flat Facies |
18 |
393 |
c
|
HYP311 |
Hyperparathyroidism 3 |
18 |
394 |
|
FLT007 |
Flotch Syndrome |
18 |
395 |
c
|
OTS007 |
Otosclerosis 3 |
17 |
396 |
P
|
CRY006 |
Cryofibrinogenemia |
17 |
397 |
|
PLM045 |
Palmer Pagon Syndrome |
17 |
398 |
P
|
ALK019 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 |
17 |
399 |
|
WHT022 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrom |
17 |
400 |
|
CRN258 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
17 |
401 |
c
|
PRM355 |
Primary Ovarian Insufficiency 6 |
16 |
402 |
|
MND005 |
Mondini Dysplasia |
16 |
403 |
c
|
OTS009 |
Otosclerosis 5 |
16 |
404 |
c
|
OTS010 |
Otosclerosis 7 |
16 |
405 |
c
|
OTS012 |
Otosclerosis 10 |
16 |
406 |
c
|
OTS011 |
Otosclerosis 8 |
16 |
407 |
c
|
CHN023 |
Chondrocalcinosis Due to Apatite Crystal Deposition |
15 |
408 |
c
|
FML094 |
Familial Wilms Tumor 2 |
15 |
409 |
c
|
OTS006 |
Otosclerosis 2 |
15 |
410 |
|
SPS047 |
Spastic Paraplegia with Precocious Puberty |
15 |
411 |
|
FML224 |
Familial Idiopathic Dilatation of the Right Atrium |
15 |
412 |
c
|
CLS053 |
Cluster Headache, Familial |
15 |
413 |
c
|
OTS008 |
Otosclerosis 4 |
14 |
414 |
c
|
ATR027 |
Atrial Fibrillation, Familial, 5 |
14 |
415 |
c
|
FML255 |
Familial Syringomyelia |
13 |
416 |
c
|
ATR025 |
Atrial Fibrillation, Familial, 2 |
13 |
417 |
c
|
ART108 |
Aortic Aneurysm, Familial Abdominal, 4 |
13 |
418 |
|
IDP082 |
Idiopathic Ventricular Fibrillation, Non Brugada Type |
13 |
419 |
|
CHR648 |
Chorea, Remitting, with Nystagmus and Cataract |
13 |
420 |
c
|
RRL001 |
Rare Lichen Planus |
12 |
421 |
|
FCT027 |
Factors Viii, Ix and Xi, Combined Deficiency of |
12 |
422 |
P
|
CHR636 |
Chorea, Benign Familial |
12 |
423 |
c
|
LCH017 |
Lichen Planus, Familial |
12 |
424 |
|
ART142 |
Arteritis, Familial Granulomatous, with Juvenile Polyarthritis |
12 |
425 |
P
|
FML305 |
Familial Abdominal Aortic Aneurysm |
12 |
426 |
c
|
PRM168 |
Primary Syringomyelia |
12 |
427 |
c
|
HMF011 |
Hemifacial Spasm, Familial |
12 |
428 |
c
|
ATR028 |
Atrial Fibrillation, Familial, 8 |
11 |
429 |
|
ENT017 |
Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency |
11 |
430 |
|
FCT025 |
Factor Vii and Factor Viii, Combined Deficiency of |
11 |
431 |
|
MNG008 |
Monogenic Disease with Epilepsy |
11 |
432 |
|
OPH016 |
Ophthalmoplegia, Familial Static |
11 |
433 |
|
TTR009 |
Tetralogy of Fallot and Glaucoma |
11 |
434 |
P
|
CHY007 |
Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase |
11 |
435 |
P
|
FML050 |
Familial Bilateral Striatal Necrosis |
11 |
436 |
|
LMB070 |
Lumbar Stenosis, Familial |
11 |
437 |
c
|
APB002 |
Apob-Related Familial Hypobetalipoproteinemia |
11 |
438 |
c
|
HYP799 |
Hypouricemia, Familial Renal, Due to Tubular Hypersecretion |
10 |
439 |
c
|
MY5001 |
Myo5b-Related Progressive Familial Intrahepatic Cholestasis |
10 |
440 |
|
FCT026 |
Factor Viii and Factor Ix, Combined Deficiency of |
10 |
441 |
c
|
PTL011 |
Patella, Familial Recurrent Dislocation of |
10 |
442 |
|
CNV019 |
Convulsive Disorder, Familial, with Prenatal or Early Onset |
10 |
443 |
c
|
CRY033 |
Cryofibrinogenemia, Familial Primary |
10 |
444 |
c
|
ACQ069 |
Acquired Human Prion Disease |
10 |
445 |
|
CRD227 |
Cardiac Lipidosis, Familial |
10 |
446 |
|
CHR631 |
Choreoathetosis, Familial Inverted |
10 |
447 |
|
ALZ052 |
Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology |
10 |
448 |
|
CNC019 |
Cancer, Familial, with in Vitro Radioresistance |
10 |
449 |
c
|
SPR154 |
Sporadic Human Prion Disease |
10 |
450 |
|
EDM003 |
Edema, Familial Idiopathic, Prepubertal |
10 |
451 |
c
|
NNS127 |
Nonsyndromic Tooth Agenesis |
9 |
452 |
|
FCT028 |
Factor Ix and Factor Xi, Combined Deficiency of |
9 |
453 |
|
MLN068 |
Melanoma, Malignant Familial Intraocular |
9 |
454 |
c
|
FML317 |
Familial Monosomy 7 Syndrome |
9 |
455 |
P
|
STT039 |
Stuttering, Familial Persistent, 4 |
9 |
456 |
|
HST021 |
Histiocytosis, Familial Lipochrome |
9 |
457 |
|
OPH017 |
Ophthalmoplegia, Familial Total, with Iris Transillumination |
9 |
458 |
|
APF001 |
Aip Familial Isolated Pituitary Adenomas |
9 |
459 |
|
ALP096 |
Alopecia, Familial Focal |
9 |
460 |
|
MSC143 |
Muscle Cramps, Familial |
9 |
461 |
|
STT047 |
Setting-Sun Phenomenon, Familial Benign |
9 |
462 |
c
|
KRT070 |
Keratosis, Familial Actinic |
8 |
463 |
c
|
STT036 |
Stuttering, Familial Persistent, 3 |
8 |
464 |
|
MCR339 |
Macrocytosis, Familial |
8 |
465 |
|
ANT082 |
Antithrombin, Familial Hemorrhagic Diathesis Due to |
8 |
466 |
|
PCH021 |
Pachydermodactyly, Familial |
8 |
467 |
|
AZT005 |
Azotemia, Familial |
8 |
468 |
|
FML352 |
Familial Scaphocephaly Syndrome |
7 |
469 |
c
|
ALK020 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 |
7 |
470 |
|
NSL026 |
Nasal Hyperpigmentation, Familial Transverse |
7 |
471 |
|
STR098 |
Striae Distensae, Familial |
7 |
472 |
c
|
JND003 |
Jaundice, Familial Obstructive, of Infancy |
7 |
473 |
|
PRP095 |
Priapism, Familial Idiopathic |
7 |
474 |
|
NSL025 |
Nasal Groove, Familial Transverse |
7 |
475 |
|
BND019 |
Bundle Branch Block, Familial Isolated Complete Right |
7 |
476 |
|
BLN022 |
Blue Nevi, Familial Multiple |
7 |
477 |
|
URT053 |
Urticaria, Familial Localized Heat |
7 |
478 |
|
FVR001 |
Fever, Familial Lifelong Persistent |
7 |
479 |
|
BNG060 |
Benign Non-Familial Infantile Seizures |
7 |
480 |
|
CRM011 |
Cramps, Familial Adolescent |
7 |
481 |
|
BRD052 |
Broad Terminal Phalanges, Familial |
7 |
482 |
|
LGL002 |
Leg Ulcers, Familial, of Juvenile Onset |
7 |
483 |
|
CRY034 |
Cryptotia, Familial |
6 |
484 |
|
INS028 |
Insulin Receptors, Familial Increase in |
6 |
485 |
c
|
TTL014 |
Total Autosomal Monosomy |
6 |
486 |
c
|
ALK022 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 |
6 |
487 |
c
|
ALK021 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 |
6 |
488 |
c
|
RRH011 |
Rare Hyperparathyroidism |
5 |
489 |
|
BRC118 |
Brachial Palsy, Familial Congenital |
5 |
490 |
|
FML051 |
Familial Capillaro-Venous Leptomeningeal Angiomatosis |
5 |
491 |
c
|
PRM366 |
Primary Ovarian Insufficiency 17 |
5 |
492 |
c
|
PRM362 |
Primary Ovarian Insufficiency 13 |
5 |
493 |
c
|
PRM358 |
Primary Ovarian Insufficiency 9 |
5 |
494 |
|
FRC004 |
Fara Chlupackova Syndrome |
5 |
495 |
c
|
OTS004 |
Otosclerosis, Familial |
5 |
496 |
c
|
PRM351 |
Primary Ovarian Insufficiency 2b |
4 |
497 |
c
|
PRM354 |
Primary Ovarian Insufficiency 5 |
4 |
498 |
c
|
PRM352 |
Primary Ovarian Insufficiency 3 |
4 |
499 |
c
|
PRM356 |
Primary Ovarian Insufficiency 7 |
4 |
500 |
c
|
PRM361 |
Primary Ovarian Insufficiency 12 |
4 |
501 |
|
LSS038 |
Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia |
4 |
502 |
c
|
PRM357 |
Primary Ovarian Insufficiency 8 |
4 |
503 |
c
|
PRM353 |
Primary Ovarian Insufficiency 4 |
4 |
504 |
c
|
PRM359 |
Primary Ovarian Insufficiency 10 |
4 |
505 |
c
|
PRM363 |
Primary Ovarian Insufficiency 14 |
4 |
506 |
c
|
PRM364 |
Primary Ovarian Insufficiency 15 |
4 |
507 |
c
|
PRM350 |
Primary Ovarian Insufficiency 2a |
4 |
508 |
c
|
PRM365 |
Primary Ovarian Insufficiency 16 |
4 |
509 |
c
|
OVR071 |
Ovarian Insufficiency, Familial |
4 |
510 |
c
|
PRM360 |
Primary Ovarian Insufficiency 11 |
4 |
511 |
c
|
FML049 |
Familial Band Heterotopia |
4 |
512 |
|
FML349 |
Familial Creutzfeld-Jakob Disease |
4 |
513 |
|
RRG028 |
Rare Genetic Disease with Myoclonus As a Major Feature |
3 |
514 |
|
IDP089 |
Idiopathic or Cryptogenic Familial Epilepsy Syndrome with Identified Loci/genes |
3 |
515 |
|
NNF004 |
Non-Familial Hypertrophic Cardiomyopathy |
3 |
516 |
|
PLM055 |
Pulmonary Artery Familial Dilatation |
2 |
517 |
c
|
FML226 |
Familial Dupuytren Contracture |
2 |
518 |
|
HYP153 |
Hypergonadotropic Ovarian Failure, Familial or Sporadic |
1 |
519 |
|
DST014 |
Distal Primary Acidosis, Familial |
1 |
520 |
P
|
BRS047 |
Breast Cancer |
97 |
521 |
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
87 |
522 |
c
|
ALZ065 |
Alzheimer Disease, Familial, 1 |
87 |
523 |
c
|
HYP595 |
Hypertension, Essential |
86 |
524 |
|
ESP021 |
Esophageal Cancer |
83 |
525 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
81 |
526 |
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
80 |
527 |
P
|
HRT032 |
Heart Disease |
80 |
528 |
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
529 |
c
|
TYP008 |
Type 1 Diabetes Mellitus |
79 |
530 |
P
|
RTT002 |
Rett Syndrome |
78 |
531 |
|
GST019 |
Gastrointestinal Stromal Tumor |
78 |
532 |
|
CYS001 |
Cystic Fibrosis |
78 |
533 |
|
NRL016 |
Neural Tube Defects |
77 |
534 |
c
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
77 |
535 |
P
|
AST005 |
Asthma |
76 |
536 |
P
|
ATS364 |
Autism |
74 |
537 |
P
|
DMN001 |
Diamond-Blackfan Anemia |
74 |
538 |
c
|
LKM063 |
Leukemia, Chronic Myeloid |
73 |
539 |
c
|
ATM006 |
Autoimmune Lymphoproliferative Syndrome |
72 |
540 |
P
|
CRN300 |
Coronary Heart Disease 1 |
72 |
541 |
P
|
SRC025 |
Sarcoidosis 1 |
71 |
542 |
|
EWN003 |
Ewing Sarcoma |
71 |
543 |
c
|
ATS007 |
Autism Spectrum Disorder |
70 |
544 |
|
SVR097 |
Severe Cutaneous Adverse Reaction |
70 |
545 |
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
546 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
69 |
547 |
P
|
BRG001 |
Brugada Syndrome |
69 |
548 |
|
CHD001 |
Chediak-Higashi Syndrome |
69 |
549 |
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
68 |
550 |
P
|
INF038 |
Influenza |
68 |
551 |
P
|
TBR001 |
Tuberous Sclerosis |
68 |
552 |
|
CRT072 |
Creutzfeldt-Jakob Disease |
68 |
553 |
P
|
MYC007 |
Myocardial Infarction |
68 |
554 |
|
LPP008 |
Lipoprotein Quantitative Trait Locus |
67 |
555 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
67 |
556 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
557 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
67 |
558 |
P
|
CHR012 |
Chronic Granulomatous Disease |
67 |
559 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
66 |
560 |
|
ALL003 |
Allergic Rhinitis |
66 |
561 |
c
|
HRD002 |
Hereditary Angioedema |
66 |
562 |
P
|
HLP001 |
Holoprosencephaly |
66 |
563 |
|
FCT007 |
Factor Vii Deficiency |
66 |
564 |
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
66 |
565 |
P
|
CRN037 |
Craniosynostosis |
66 |
566 |
P
|
DYS154 |
Dystonia |
66 |
567 |
|
ACH004 |
Achondroplasia |
66 |
568 |
c
|
JVN010 |
Juvenile Rheumatoid Arthritis |
66 |
569 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
66 |
570 |
P
|
PLZ001 |
Pelizaeus-Merzbacher Disease |
65 |
571 |
|
CRZ001 |
Crouzon Syndrome |
65 |
572 |
P
|
AGM001 |
Agammaglobulinemia |
65 |
573 |
P
|
LYS001 |
Loeys-Dietz Syndrome |
65 |
574 |
|
MTC027 |
Mitochondrial Trifunctional Protein Deficiency |
65 |
575 |
|
RFS006 |
Refsum Disease, Classic |
64 |
576 |
c
|
GLY007 |
Glycogen Storage Disease Iv |
64 |
577 |
P
|
ZLL001 |
Zellweger Syndrome |
64 |
578 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
64 |
579 |
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
64 |
580 |
|
MYC079 |
Myoclonic Epilepsy of Lafora |
64 |
581 |
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
64 |
582 |
c
|
TBR026 |
Tuberous Sclerosis 2 |
63 |
583 |
P
|
NRF002 |
Neurofibromatosis |
63 |
584 |
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
63 |
585 |
|
ART001 |
Arterial Tortuosity Syndrome |
63 |
586 |
P
|
HYD006 |
Hydrocephalus |
63 |
587 |
P
|
ACR001 |
Aicardi-Goutieres Syndrome |
63 |
588 |
|
PHL006 |
Phelan-Mcdermid Syndrome |
63 |
589 |
|
LKN001 |
Leukoencephalopathy with Vanishing White Matter |
62 |
590 |
|
NRR002 |
Norrie Disease |
62 |
591 |
|
CHY002 |
Chylomicron Retention Disease |
62 |
592 |
|
SPN404 |
Spinal and Bulbar Muscular Atrophy, X-Linked 1 |
61 |
593 |
c
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
61 |
594 |
P
|
EPL140 |
Epilepsy, Idiopathic Generalized |
61 |
595 |
c
|
DVL030 |
Developmental and Epileptic Encephalopathy 36 |
61 |
596 |
c
|
FRS014 |
Fraser Syndrome 1 |
61 |
597 |
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
61 |
598 |
|
SCR020 |
Sacral Defect with Anterior Meningocele |
61 |
599 |
|
ALP097 |
Alopecia Universalis Congenita |
60 |
600 |
P
|
EXD001 |
Exudative Vitreoretinopathy |
60 |
601 |
|
DBF001 |
D-Bifunctional Protein Deficiency |
60 |
602 |
P
|
CHL002 |
Childhood Absence Epilepsy |
60 |
603 |
|
CMP012 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
60 |
604 |
c
|
ACT075 |
Acute Myocardial Infarction |
59 |
605 |
|
ARG007 |
Argininemia |
59 |
606 |
|
CFF002 |
Coffin-Lowry Syndrome |
59 |
607 |
P
|
MCR010 |
Microcephaly |
59 |
608 |
P
|
BRN022 |
Bronchiectasis |
59 |
609 |
c
|
WLF013 |
Wolfram Syndrome 1 |
59 |
610 |
P
|
MYM013 |
Moyamoya Disease 1 |
59 |
611 |
P
|
PRG013 |
Paraganglioma |
59 |
612 |
c
|
PRM196 |
Premature Ovarian Failure 1 |
59 |
613 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
59 |
614 |
c
|
ANG070 |
Angioedema, Hereditary, 1 |
59 |
615 |
P
|
LYM033 |
Lymphoproliferative Syndrome |
58 |
616 |
c
|
TLN006 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
58 |
617 |
c
|
FNC042 |
Fanconi Anemia, Complementation Group D2 |
58 |
618 |
|
CPR004 |
Coproporphyria, Hereditary |
58 |
619 |
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
57 |
620 |
|
LYS003 |
Lysinuric Protein Intolerance |
57 |
621 |
P
|
WLF004 |
Wolfram Syndrome |
57 |
622 |
|
VRG001 |
Variegate Porphyria |
57 |
623 |
P
|
GNT049 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
57 |
624 |
c
|
MCL046 |
Mucolipidosis Iii Alpha/beta |
57 |
625 |
|
CRN295 |
Carnitine Palmitoyltransferase I Deficiency |
56 |
626 |
P
|
ATR001 |
Atrioventricular Septal Defect |
56 |
627 |
P
|
EHL078 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
56 |
628 |
P
|
VNB005 |
Van Buchem Disease |
56 |
629 |
|
ARS001 |
Aarskog-Scott Syndrome |
56 |
630 |
P
|
VSC013 |
Visceral Heterotaxy |
56 |
631 |
|
PRT082 |
Preterm Premature Rupture of the Membranes |
56 |
632 |
P
|
HRD011 |
Hereditary Spherocytosis |
56 |
633 |
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
56 |
634 |
c
|
HLP023 |
Holoprosencephaly 1 |
56 |
635 |
c
|
MTR020 |
Maturity-Onset Diabetes of the Young, Type 3 |
56 |
636 |
P
|
STS003 |
Sitosterolemia |
56 |
637 |
P
|
ATS011 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
56 |
638 |
P
|
CRN231 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
56 |
639 |
c
|
ART120 |
Arthrogryposis, Distal, Type 3 |
55 |
640 |
|
TCK001 |
Tick-Borne Encephalitis |
55 |
641 |
P
|
LFT003 |
Left Ventricular Noncompaction |
55 |
642 |
P
|
AML002 |
Amelogenesis Imperfecta |
55 |
643 |
|
OPT054 |
Opitz-Kaveggia Syndrome |
55 |
644 |
P
|
PRK001 |
Porokeratosis |
55 |
645 |
P
|
DRR001 |
Diarrhea |
55 |
646 |
P
|
SCK002 |
Sick Sinus Syndrome |
55 |
647 |
P
|
ANG015 |
Angioedema |
55 |
648 |
P
|
SCK004 |
Seckel Syndrome |
55 |
649 |
P
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
54 |
650 |
c
|
INF037 |
Inflammatory Bowel Disease |
54 |
651 |
|
PRX028 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
54 |
652 |
c
|
MTR019 |
Maturity-Onset Diabetes of the Young, Type 2 |
54 |
653 |
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
54 |
654 |
c
|
OPT053 |
Optic Atrophy 1 |
54 |
655 |
|
GLC009 |
Glucosephosphate Dehydrogenase Deficiency |
54 |
656 |
P
|
CNG010 |
Congenital Stationary Night Blindness |
54 |
657 |
P
|
NNT058 |
Neonatal Diabetes |
53 |
658 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
659 |
c
|
FNC045 |
Fanconi Anemia, Complementation Group F |
53 |
660 |
c
|
CRN278 |
Craniosynostosis 1 |
53 |
661 |
|
GLC003 |
Glucose Intolerance |
53 |
662 |
c
|
HYP828 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
53 |
663 |
P
|
NLD001 |
Nail Disease |
53 |
664 |
c
|
ATS069 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
53 |
665 |
c
|
HYP795 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
53 |
666 |
c
|
FNC025 |
Fanconi Anemia, Complementation Group J |
53 |
667 |
c
|
MLT086 |
Multiple Endocrine Neoplasia, Type Iv |
53 |
668 |
c
|
CNG216 |
Congenital Hydrocephalus |
53 |
669 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
670 |
c
|
PNT057 |
Pontocerebellar Hypoplasia, Type 1e |
52 |
671 |
c
|
STN011 |
Sting-Associated Vasculopathy with Onset in Infancy |
52 |
672 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
52 |
673 |
|
SCH071 |
Schaaf-Yang Syndrome |
52 |
674 |
P
|
TRC102 |
Trichothiodystrophy 1, Photosensitive |
52 |
675 |
P
|
VND002 |
Van Der Woude Syndrome |
52 |
676 |
c
|
HRD117 |
Hereditary Breast Cancer |
52 |
677 |
c
|
GLL038 |
Galloway-Mowat Syndrome 1 |
52 |
678 |
c
|
HLP026 |
Holoprosencephaly 3 |
52 |
679 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
680 |
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
52 |
681 |
P
|
DVL113 |
Developmental and Epileptic Encephalopathy |
51 |
682 |
|
THM002 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
51 |
683 |
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
51 |
684 |
P
|
NLX004 |
Neu-Laxova Syndrome 1 |
51 |
685 |
P
|
BRT050 |
Bartter Syndrome, Type 2, Antenatal |
51 |
686 |
|
NNL006 |
Non-Alcoholic Steatohepatitis |
51 |
687 |
|
AGN012 |
Agnathia-Otocephaly Complex |
51 |
688 |
|
NRL018 |
Neural Tube Defects, Folate-Sensitive |
51 |
689 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
51 |
690 |
c
|
DWL002 |
Dowling-Degos Disease 1 |
51 |
691 |
c
|
INF023 |
Inflammatory Breast Carcinoma |
51 |
692 |
c
|
DBT104 |
Diabetes Mellitus, Permanent Neonatal, 1 |
51 |
693 |
|
HYP801 |
Hyperferritinemia with or Without Cataract |
51 |
694 |
P
|
PRM030 |
Permanent Neonatal Diabetes Mellitus |
51 |
695 |
|
JVN012 |
Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome |
50 |
696 |
c
|
HLP025 |
Holoprosencephaly 9 |
50 |
697 |
|
CNT056 |
Cantu Syndrome |
50 |
698 |
c
|
FNC032 |
Fanconi Anemia, Complementation Group B |
50 |
699 |
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
50 |
700 |
|
MLB001 |
Mulibrey Nanism |
50 |
701 |
c
|
ART155 |
Arthrogryposis, Distal, Type 2b1 |
50 |
702 |
|
PTC002 |
Potocki-Lupski Syndrome |
50 |
703 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
50 |
704 |
c
|
OPT068 |
Optic Atrophy 3, Autosomal Dominant |
50 |
705 |
c
|
FNC028 |
Fanconi Anemia, Complementation Group L |
50 |
706 |
P
|
ANX007 |
Anauxetic Dysplasia 1 |
50 |
707 |
|
SLR001 |
Sialuria |
50 |
708 |
P
|
KRT007 |
Keratoconus |
50 |
709 |
P
|
MCL001 |
Mucolipidosis |
50 |
710 |
P
|
PRT042 |
Parietal Foramina |
50 |
711 |
c
|
JBR004 |
Joubert Syndrome 2 |
50 |
712 |
c
|
PRG130 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 |
49 |
713 |
P
|
HRD012 |
Hereditary Elliptocytosis |
49 |
714 |
c
|
HYP575 |
Hypotrichosis 7 |
49 |
715 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
49 |
716 |
|
PHS004 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
49 |
717 |
c
|
MCR239 |
Microcephaly 5, Primary, Autosomal Recessive |
49 |
718 |
c
|
JBR012 |
Joubert Syndrome 5 |
48 |
719 |
c
|
ALZ049 |
Alzheimer Disease 2 |
48 |
720 |
|
GLY014 |
Glycerol Kinase Deficiency |
48 |
721 |
P
|
BRT028 |
Brittle Cornea Syndrome 1 |
48 |
722 |
c
|
HYP597 |
Hyperprolinemia, Type Ii |
48 |
723 |
c
|
STS010 |
Sitosterolemia 1 |
48 |
724 |
|
RNS001 |
Raine Syndrome |
48 |
725 |
|
VTM002 |
Vitamin B12 Deficiency |
48 |
726 |
P
|
BCT020 |
Bacteremia 2 |
48 |
727 |
P
|
BRS053 |
Breast Fibroadenoma |
48 |
728 |
c
|
PRG039 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 |
48 |
729 |
c
|
ALZ045 |
Alzheimer Disease 9 |
48 |
730 |
|
SNG007 |
Sengers Syndrome |
48 |
731 |
c
|
DYS152 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
48 |
732 |
c
|
RTS003 |
Ritscher-Schinzel Syndrome 1 |
48 |
733 |
P
|
BWL003 |
Bowel Dysfunction |
48 |
734 |
|
KRT010 |
Kartagener Syndrome |
48 |
735 |
|
MCR096 |
Macrocephaly/autism Syndrome |
48 |
736 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
47 |
737 |
P
|
KLP003 |
Klippel-Feil Syndrome |
47 |
738 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
739 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
47 |
740 |
|
AST052 |
Asthma, Nasal Polyps, and Aspirin Intolerance |
47 |
741 |
c
|
BRS049 |
Breast Carcinoma in Situ |
47 |
742 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
47 |
743 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
47 |
744 |
|
BRL010 |
Buruli Ulcer |
47 |
745 |
|
MNC019 |
Monocarboxylate Transporter 1 Deficiency |
47 |
746 |
c
|
ZLL011 |
Zellweger Spectrum Disorder |
47 |
747 |
|
MLL011 |
Mullerian Aplasia and Hyperandrogenism |
47 |
748 |
c
|
ACR116 |
Aicardi-Goutieres Syndrome 1 |
47 |
749 |
c
|
FNC023 |
Fanconi Anemia, Complementation Group N |
47 |
750 |
c
|
CRD166 |
Ceroid Lipofuscinosis, Neuronal, 11 |
47 |
751 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
752 |
|
CRB147 |
Cerebellofaciodental Syndrome |
47 |
753 |
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
754 |
c
|
MCK030 |
Meckel Syndrome, Type 7 |
46 |
755 |
P
|
DWL001 |
Dowling-Degos Disease |
46 |
756 |
|
AYM001 |
Ayme-Gripp Syndrome |
46 |
757 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
758 |
|
PRX001 |
Peroxisomal Disease |
46 |
759 |
P
|
MTH007 |
Methemoglobinemia |
46 |
760 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
46 |
761 |
c
|
MCR124 |
Microphthalmia, Isolated 1 |
46 |
762 |
c
|
GRN061 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
46 |
763 |
P
|
PRX021 |
Proximal Symphalangism |
46 |
764 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
46 |
765 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
766 |
c
|
MLT127 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
46 |
767 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
768 |
c
|
DVL118 |
Developmental and Epileptic Encephalopathy 94 |
46 |
769 |
c
|
CHR711 |
Chronic Asthma |
46 |
770 |
P
|
SPS008 |
Spastic Ataxia |
45 |
771 |
c
|
HLP016 |
Holoprosencephaly 11 |
45 |
772 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
773 |
c
|
HYP829 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
45 |
774 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
45 |
775 |
c
|
JBR022 |
Joubert Syndrome 20 |
45 |
776 |
c
|
TRC100 |
Trichothiodystrophy 3, Photosensitive |
45 |
777 |
c
|
MRG010 |
Meier-Gorlin Syndrome 3 |
45 |
778 |
c
|
DMN021 |
Diamond-Blackfan Anemia 6 |
45 |
779 |
c
|
AGM023 |
Agammaglobulinemia 4, Autosomal Recessive |
45 |
780 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
45 |
781 |
c
|
CRN111 |
Cranioectodermal Dysplasia 4 |
45 |
782 |
|
CRB148 |
Cerebral Creatine Deficiency Syndrome 3 |
45 |
783 |
c
|
DMN029 |
Diamond-Blackfan Anemia 11 |
45 |
784 |
c
|
ALZ062 |
Alzheimer Disease 19 |
45 |
785 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
45 |
786 |
c
|
LNG053 |
Long Qt Syndrome 9 |
44 |
787 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
788 |
P
|
SYN060 |
Syndactyly, Type Iii |
44 |
789 |
c
|
INF063 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
44 |
790 |
c
|
ACT249 |
Acute Asthma |
44 |
791 |
c
|
EHL087 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
44 |
792 |
c
|
HLP029 |
Holoprosencephaly 4 |
44 |
793 |
|
DRR008 |
Diarrhea 1, Secretory Chloride, Congenital |
44 |
794 |
P
|
MCR384 |
Microcephaly, Epilepsy, and Diabetes Syndrome 1 |
44 |
795 |
|
PLY062 |
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy |
44 |
796 |
c
|
SPN297 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
44 |
797 |
c
|
SCK009 |
Seckel Syndrome 1 |
44 |
798 |
c
|
2HY001 |
2-Hydroxyglutaric Aciduria |
44 |
799 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
800 |
P
|
PST059 |
Pustular Psoriasis |
44 |
801 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
44 |
802 |
|
CHR594 |
Chromosome 3q29 Deletion Syndrome |
44 |
803 |
c
|
SYN061 |
Syndactyly, Type Iv |
44 |
804 |
c
|
NNN009 |
Noonan Syndrome 2 |
44 |
805 |
P
|
MLG069 |
Malignant Hypertension |
44 |
806 |
P
|
NNN037 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair |
44 |
807 |
c
|
SYS043 |
Systemic Lupus Erythematosus 1 |
44 |
808 |
|
PHS023 |
Phosphoserine Aminotransferase Deficiency |
43 |
809 |
P
|
CMM008 |
Communicating Hydrocephalus |
43 |
810 |
c
|
MLT119 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
43 |
811 |
c
|
ORF027 |
Orofacial Cleft 11 |
43 |
812 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
43 |
813 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
43 |
814 |
c
|
JBR016 |
Joubert Syndrome 10 |
43 |
815 |
c
|
SMP005 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
43 |
816 |
|
PLY068 |
Polysubstance Abuse |
43 |
817 |
c
|
WRB003 |
Warburg Micro Syndrome 2 |
43 |
818 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
819 |
c
|
DYS119 |
Dystonia 9 |
43 |
820 |
c
|
HYD019 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
43 |
821 |
|
CMP007 |
Complement Component 5 Deficiency |
43 |
822 |
c
|
VTL009 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
43 |
823 |
|
FZL002 |
Fazio-Londe Disease |
43 |
824 |
|
MNC011 |
Minicore Myopathy with External Ophthalmoplegia |
42 |
825 |
c
|
PRM038 |
Primary Agammaglobulinemia |
42 |
826 |
|
DFN270 |
Deafness, Dystonia, and Cerebral Hypomyelination |
42 |
827 |
c
|
CRD257 |
Ceroid Lipofuscinosis, Neuronal, 4 |
42 |
828 |
c
|
LBR011 |
Leber Congenital Amaurosis 16 |
42 |
829 |
c
|
DMN006 |
Diamond-Blackfan Anemia 3 |
42 |
830 |
|
IVC001 |
Ivic Syndrome |
42 |
831 |
P
|
CRN327 |
Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 |
42 |
832 |
c
|
NNN012 |
Noonan Syndrome 5 |
42 |
833 |
c
|
TRC078 |
Trichohepatoenteric Syndrome 2 |
42 |
834 |
c
|
DYS149 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
42 |
835 |
c
|
FRS016 |
Fraser Syndrome 2 |
42 |
836 |
|
DPH019 |
Diaphanospondylodysostosis |
42 |
837 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
42 |
838 |
P
|
ORF002 |
Orofacial Cleft |
42 |
839 |
c
|
SPR009 |
Sporadic Breast Cancer |
42 |
840 |
|
INT504 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
41 |
841 |
|
CRN325 |
Craniotubular Dysplasia, Ikegawa Type |
41 |
842 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
843 |
c
|
CRS017 |
Crisponi/cold-Induced Sweating Syndrome 2 |
41 |
844 |
c
|
CNG404 |
Congenital Heart Defects, Multiple Types, 4 |
41 |
845 |
|
PLY158 |
Polyglucosan Body Neuropathy, Adult Form |
41 |
846 |
P
|
PRC031 |
Preeclampsia/eclampsia 1 |
41 |
847 |
c
|
SCK010 |
Seckel Syndrome 4 |
41 |
848 |
|
CRP035 |
Corpus Callosum, Partial Agenesis of, X-Linked |
41 |
849 |
c
|
MCR122 |
Microphthalmia, Isolated 5 |
41 |
850 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
41 |
851 |
c
|
GLP004 |
Geleophysic Dysplasia 2 |
41 |
852 |
P
|
RDL002 |
Radioulnar Synostosis |
41 |
853 |
P
|
MLT072 |
Multiple Synostoses Syndrome |
41 |
854 |
|
MTC029 |
Mitochondrial Complex V Deficiency, Nuclear Type 1 |
41 |
855 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
41 |
856 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
41 |
857 |
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
41 |
858 |
c
|
GNR038 |
Generalized Epilepsy with Febrile Seizures Plus, Type 1 |
41 |
859 |
c
|
FNC058 |
Fanconi Anemia, Complementation Group R |
41 |
860 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
41 |
861 |
c
|
WLF009 |
Wolfram Syndrome 2 |
41 |
862 |
P
|
CRB050 |
Cerebrooculofacioskeletal Syndrome |
41 |
863 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
41 |
864 |
c
|
SPH013 |
Spherocytosis, Type 1 |
41 |
865 |
c
|
MRG015 |
Meier-Gorlin Syndrome 7 |
41 |
866 |
P
|
HYP087 |
Hypotrichosis |
40 |
867 |
P
|
INC029 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 |
40 |
868 |
c
|
BRG003 |
Brugada Syndrome 3 |
40 |
869 |
|
DSR012 |
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency |
40 |
870 |
c
|
CLR114 |
Ciliary Dyskinesia, Primary, 30 |
40 |
871 |
c
|
NNN021 |
Noonan Syndrome 8 |
40 |
872 |
c
|
MRG012 |
Meier-Gorlin Syndrome 5 |
40 |
873 |
c
|
OST110 |
Osteogenesis Imperfecta, Type Xv |
40 |
874 |
P
|
DYS005 |
Dyslexia |
40 |
875 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
40 |
876 |
P
|
HYP111 |
Hyperprolinemia |
40 |
877 |
c
|
HLP028 |
Holoprosencephaly 5 |
40 |
878 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
40 |
879 |
c
|
FRN043 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 |
40 |
880 |
|
CRT045 |
Creatine Phosphokinase, Elevated Serum |
40 |
881 |
P
|
MLT027 |
Multiple Mitochondrial Dysfunctions Syndrome |
40 |
882 |
c
|
JBR015 |
Joubert Syndrome 6 |
40 |
883 |
c
|
HYP525 |
Hypotrichosis 2 |
40 |
884 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
40 |
885 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
40 |
886 |
c
|
MSC106 |
Mosaic Variegated Aneuploidy Syndrome 2 |
40 |
887 |
c
|
ACQ012 |
Acquired Angioedema |
40 |
888 |
c
|
FNC057 |
Fanconi Anemia, Complementation Group U |
40 |
889 |
c
|
MTR039 |
Maturity-Onset Diabetes of the Young, Type 11 |
40 |
890 |
|
CRT046 |
Corticosteroid-Binding Globulin Deficiency |
40 |
891 |
P
|
CNG024 |
Congenital Nystagmus |
40 |
892 |
c
|
MTR023 |
Maturity-Onset Diabetes of the Young, Type 6 |
40 |
893 |
|
RTN193 |
Retinitis Pigmentosa and Erythrocytic Microcytosis |
40 |
894 |
|
MLT162 |
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects |
40 |
895 |
c
|
PRG020 |
Paragangliomas 3 |
39 |
896 |
|
WCK001 |
Wieacker-Wolff Syndrome |
39 |
897 |
c
|
PRM212 |
Primary Microcephaly |
39 |
898 |
c
|
BRT029 |
Brittle Cornea Syndrome 2 |
39 |
899 |
|
CMP089 |
Complement Component 6 Deficiency |
39 |
900 |
c
|
EHL084 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
39 |
901 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
39 |
902 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
39 |
903 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
39 |
904 |
c
|
EHL086 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
39 |
905 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
39 |
906 |
|
RPP001 |
Rapp-Hodgkin Syndrome |
39 |
907 |
|
ISL151 |
Isolated Elevated Serum Creatine Phosphokinase Levels |
39 |
908 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
39 |
909 |
P
|
STN012 |
Sting-Associated Vasculopathy, Infantile-Onset |
39 |
910 |
c
|
HTR021 |
Heterotaxy, Visceral, 5, Autosomal |
39 |
911 |
c
|
JBR037 |
Joubert Syndrome 26 |
39 |
912 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
39 |
913 |
c
|
PLY149 |
Polydactyly, Preaxial Iv |
39 |
914 |
c
|
CNG223 |
Congenital Methemoglobinemia |
39 |
915 |
c
|
HYP559 |
Hypotrichosis 8 |
39 |
916 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
39 |
917 |
c
|
VND007 |
Van Der Woude Syndrome 1 |
39 |
918 |
c
|
KNN009 |
Kenny-Caffey Syndrome, Type 1 |
39 |
919 |
|
FRG010 |
Fragile X Tremor/ataxia Syndrome |
39 |
920 |
|
SNL007 |
Senile Cataract |
39 |
921 |
P
|
SYN012 |
Synpolydactyly |
38 |
922 |
c
|
CLR066 |
Ciliary Dyskinesia, Primary, 2 |
38 |
923 |
c
|
NGH025 |
Night Blindness, Congenital Stationary, Type 2a |
38 |
924 |
c
|
AMY088 |
Amyotrophic Lateral Sclerosis 3 |
38 |
925 |
P
|
DYS215 |
Dyskinesia with Orofacial Involvement, Autosomal Dominant |
38 |
926 |
c
|
46X017 |
46,xy Sex Reversal 6 |
38 |
927 |
|
HYP540 |
Hypertension, Diastolic |
38 |
928 |
P
|
MYP105 |
Myopathy, Myosin Storage, Autosomal Dominant |
38 |
929 |
|
INT270 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
38 |
930 |
c
|
NNN020 |
Noonan Syndrome 7 |
38 |
931 |
|
TRN012 |
Transient Global Amnesia |
38 |
932 |
P
|
SHR085 |
Short-Rib Thoracic Dysplasia 14 with Polydactyly |
38 |
933 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
38 |
934 |
P
|
UVS001 |
Uv-Sensitive Syndrome |
38 |
935 |
|
RST023 |
Resting Heart Rate, Variation in |
38 |
936 |
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
38 |
937 |
c
|
DMN020 |
Diamond-Blackfan Anemia 8 |
38 |
938 |
c
|
ACR091 |
Aicardi-Goutieres Syndrome 4 |
38 |
939 |
P
|
SCH077 |
Schwannomatosis 1 |
38 |
940 |
P
|
NNP021 |
Nanophthalmos |
38 |
941 |
P
|
BRT040 |
Baraitser-Winter Syndrome |
38 |
942 |
|
MLC004 |
Mulchandani-Bhoj-Conlin Syndrome |
38 |
943 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
38 |
944 |
c
|
CWD004 |
Cowden Syndrome 5 |
38 |
945 |
c
|
HYP606 |
Hypokalemic Periodic Paralysis, Type 2 |
38 |
946 |
c
|
LPR011 |
Leopard Syndrome 2 |
38 |
947 |
c
|
FNC046 |
Fanconi Anemia, Complementation Group P |
38 |
948 |
c
|
DMN024 |
Diamond-Blackfan Anemia 7 |
38 |
949 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
37 |
950 |
c
|
CTR145 |
Cataract 44 |
37 |
951 |
|
CHR225 |
Chromosome 1q21.1 Duplication Syndrome |
37 |
952 |
|
CRN274 |
Corneal Dystrophy, Posterior Amorphous |
37 |
953 |
c
|
HLP024 |
Holoprosencephaly 2 |
37 |
954 |
|
CMP087 |
Complement Component 7 Deficiency |
37 |
955 |
c
|
AMY023 |
Amyotrophic Lateral Sclerosis Type 6 |
37 |
956 |
|
HYD030 |
Hydroxykynureninuria |
37 |
957 |
|
HTR014 |
Heterotaxy, Visceral, 1, X-Linked |
37 |
958 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
37 |
959 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
37 |
960 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
37 |
961 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
37 |
962 |
c
|
EPL236 |
Epilepsy, Idiopathic Generalized 15 |
37 |
963 |
|
SYN089 |
Syndromic X-Linked Intellectual Disability Snyder Type |
37 |
964 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
37 |
965 |
P
|
THY054 |
Thyrotoxic Periodic Paralysis |
37 |
966 |
|
CMB019 |
Combined Oxidative Phosphorylation Deficiency 8 |
37 |
967 |
c
|
ACR092 |
Aicardi-Goutieres Syndrome 5 |
37 |
968 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
37 |
969 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
37 |
970 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
37 |
971 |
c
|
KLP007 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
37 |
972 |
c
|
SCK011 |
Seckel Syndrome 5 |
37 |
973 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
37 |
974 |
c
|
PRT059 |
Parietal Foramina 1 |
36 |
975 |
c
|
ACT004 |
Acute Diarrhea |
36 |
976 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
36 |
977 |
|
HMM004 |
Hamamy Syndrome |
36 |
978 |
c
|
PRT134 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
36 |
979 |
c
|
JBR040 |
Joubert Syndrome 30 |
36 |
980 |
c
|
TRC125 |
Trichothiodystrophy 7, Nonphotosensitive |
36 |
981 |
c
|
ELL005 |
Elliptocytosis 2 |
36 |
982 |
|
MST021 |
Meester-Loeys Syndrome |
36 |
983 |
P
|
LSS030 |
Lissencephaly 7 with Cerebellar Hypoplasia |
36 |
984 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
985 |
|
LSN002 |
Loose Anagen Hair Syndrome |
36 |
986 |
P
|
ENC056 |
Encephalopathy, Acute, Infection-Induced 4 |
36 |
987 |
|
RHM034 |
Rahman Syndrome |
36 |
988 |
c
|
EXD012 |
Exudative Vitreoretinopathy 7 |
36 |
989 |
c
|
BRD053 |
Bardet-Biedl Syndrome 22 |
36 |
990 |
c
|
HYP355 |
Hypothyroidism, Congenital, Nongoitrous, 3 |
36 |
991 |
c
|
LBR029 |
Leber Congenital Amaurosis 17 |
36 |
992 |
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
36 |
993 |
c
|
ELL010 |
Elliptocytosis 1 |
36 |
994 |
|
VRT016 |
Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction |
36 |
995 |
c
|
AML047 |
Amelogenesis Imperfecta, Type Ia |
36 |
996 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
36 |
997 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
36 |
998 |
c
|
ADL066 |
Adult Neuronal Ceroid Lipofuscinosis |
36 |
999 |
c
|
PRK070 |
Parkinson Disease 21 |
35 |
1000 |
|
ATX039 |
Ataxia-Pancytopenia Syndrome |
35 |
1001 |
c
|
NGH027 |
Night Blindness, Congenital Stationary, Type 1c |
35 |
1002 |
|
HYP846 |
Hypopigmentation, Organomegaly, and Delayed Myelination and Development |
35 |
1003 |
c
|
FNC034 |
Fanconi Renotubular Syndrome 2 |
35 |
1004 |
|
NRD058 |
Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures |
35 |
1005 |
c
|
LFR009 |
Li-Fraumeni Syndrome 1 |
35 |
1006 |
|
EPL166 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
35 |
1007 |
c
|
NLD006 |
Nail Disorder, Nonsyndromic Congenital, 9 |
35 |
1008 |
c
|
WLF011 |
Wolfram-Like Syndrome, Autosomal Dominant |
35 |
1009 |
P
|
TRG016 |
Trigonocephaly 1 |
35 |
1010 |
c
|
KBK003 |
Kabuki Syndrome 2 |
35 |
1011 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
35 |
1012 |
c
|
DYS162 |
Dystonia, Juvenile-Onset |
35 |
1013 |
c
|
NLD012 |
Nail Disorder, Nonsyndromic Congenital, 3 |
35 |
1014 |
c
|
CLR042 |
Ciliary Dyskinesia, Primary, 6 |
35 |
1015 |
c
|
RTS002 |
Ritscher-Schinzel Syndrome 2 |
35 |
1016 |
c
|
NNS018 |
Nonsyndromic Paraganglioma |
35 |
1017 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
35 |
1018 |
c
|
INC015 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 |
35 |
1019 |
c
|
CRN214 |
Coronary Heart Disease 5 |
35 |
1020 |
c
|
SYN084 |
Synpolydactyly 1 |
35 |
1021 |
c
|
JBR045 |
Joubert Syndrome 33 |
35 |
1022 |
c
|
MTR026 |
Maturity-Onset Diabetes of the Young, Type 9 |
35 |
1023 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
35 |
1024 |
c
|
ALZ063 |
Alzheimer's Disease 1 |
35 |
1025 |
c
|
HYP518 |
Hypogonadotropic Hypogonadism 16 with or Without Anosmia |
34 |
1026 |
c
|
NGH024 |
Night Blindness, Congenital Stationary, Type 1h |
34 |
1027 |
c
|
CLR056 |
Ciliary Dyskinesia, Primary, 10 |
34 |
1028 |
c
|
NNN027 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 |
34 |
1029 |
c
|
CRN146 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
34 |
1030 |
c
|
CTR183 |
Cataract 38 |
34 |
1031 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
34 |
1032 |
|
PRC054 |
Perching Syndrome |
34 |
1033 |
|
CRN302 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
34 |
1034 |
c
|
BRC060 |
Brachydactyly, Type E2 |
34 |
1035 |
c
|
SPH014 |
Spherocytosis, Type 2 |
34 |
1036 |
c
|
INF002 |
Inflammatory Diarrhea |
34 |
1037 |
c
|
MRG009 |
Meier-Gorlin Syndrome 2 |
34 |
1038 |
c
|
CLR101 |
Ciliary Dyskinesia, Primary, 25 |
34 |
1039 |
c
|
GLM047 |
Glioma Susceptibility 3 |
34 |
1040 |
c
|
PRK080 |
Porokeratosis 3, Multiple Types |
34 |
1041 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
34 |
1042 |
c
|
JBR014 |
Joubert Syndrome 9 |
34 |
1043 |
c
|
HYP577 |
Hypotrichosis 13 |
34 |
1044 |
c
|
CRP022 |
Carpenter Syndrome 2 |
34 |
1045 |
c
|
TRC099 |
Trichothiodystrophy 2, Photosensitive |
34 |
1046 |
c
|
ISL165 |
Isolated Microphthalmia 3 |
34 |
1047 |
c
|
3MT019 |
3-Methylglutaconic Aciduria, Type Iv |
34 |
1048 |
P
|
XLN255 |
X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders |
34 |
1049 |
|
NRD024 |
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart |
34 |
1050 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
34 |
1051 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
34 |
1052 |
|
PHS022 |
Phosphoserine Phosphatase Deficiency |
34 |
1053 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
34 |
1054 |
c
|
ANX008 |
Anauxetic Dysplasia 2 |
34 |
1055 |
c
|
NNN024 |
Noonan Syndrome 9 |
33 |
1056 |
c
|
HRD226 |
Hereditary Spastic Paraplegia 49 |
33 |
1057 |
c
|
CRN306 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
33 |
1058 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
33 |
1059 |
c
|
AMY079 |
Amyotrophic Lateral Sclerosis Type 15 |
33 |
1060 |
|
CHT006 |
Chitayat Syndrome |
33 |
1061 |
c
|
DMN018 |
Diamond-Blackfan Anemia 5 |
33 |
1062 |
c
|
SPH015 |
Spherocytosis, Type 3 |
33 |
1063 |
|
GLT040 |
Glutamate-Cysteine Ligase Deficiency |
33 |
1064 |
P
|
CHR084 |
Chromosomal Disease |
33 |
1065 |
c
|
ACQ047 |
Acquired Methemoglobinemia |
33 |
1066 |
c
|
EPL073 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
33 |
1067 |
|
VSS004 |
Viss Syndrome |
33 |
1068 |
|
CHR582 |
Chromosome 3q29 Duplication Syndrome |
33 |
1069 |
c
|
ELL006 |
Elliptocytosis 3 |
33 |
1070 |
|
HYP808 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration |
33 |
1071 |
P
|
MCR364 |
Macrodactyly |
33 |
1072 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
33 |
1073 |
c
|
THY084 |
Thyrotoxic Periodic Paralysis 1 |
33 |
1074 |
|
CHL050 |
Cholesterol Ester Storage Disease |
33 |
1075 |
P
|
ZMM001 |
Zimmermann-Laband Syndrome |
33 |
1076 |
|
MYC071 |
Myoclonic-Atonic Epilepsy |
33 |
1077 |
c
|
THY083 |
Thyrotoxic Periodic Paralysis 2 |
33 |
1078 |
P
|
RJB003 |
Rajab Interstitial Lung Disease with Brain Calcifications 1 |
33 |
1079 |
|
NRC023 |
Neuroocular Syndrome |
33 |
1080 |
c
|
PLM139 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 |
33 |
1081 |
|
CHR386 |
Chromosome 6pter-P24 Deletion Syndrome |
33 |
1082 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
33 |
1083 |
c
|
INC031 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 |
32 |
1084 |
|
ATN022 |
Autoinflammation, Antibody Deficiency, and Immune Dysregulation |
32 |
1085 |
c
|
AMY081 |
Amyotrophic Lateral Sclerosis Type 12 |
32 |
1086 |
|
CLC008 |
Colchicine Resistance |
32 |
1087 |
P
|
RTS001 |
Ritscher-Schinzel Syndrome |
32 |
1088 |
|
BLR030 |
Bilirubin, Serum Level of, Quantitative Trait Locus 1 |
32 |
1089 |
c
|
GLM025 |
Glioma Susceptibility 2 |
32 |
1090 |
c
|
THR069 |
Three M Syndrome 2 |
32 |
1091 |
c
|
EPL086 |
Epilepsy, Idiopathic Generalized 9 |
32 |
1092 |
|
ATM052 |
Autoimmune Disease 1 |
32 |
1093 |
c
|
DRR009 |
Diarrhea 6 |
32 |
1094 |
c
|
PRT060 |
Parietal Foramina 2 |
32 |
1095 |
|
CMB013 |
Combined Oxidative Phosphorylation Deficiency 2 |
32 |
1096 |
|
SFR001 |
Sifrim-Hitz-Weiss Syndrome |
32 |
1097 |
c
|
CRD216 |
Ceroid Lipofuscinosis, Neuronal, 9 |
32 |
1098 |
P
|
KNN002 |
Kenny-Caffey Syndrome |
32 |
1099 |
c
|
TYP055 |
Type 1 Diabetes Mellitus 22 |
32 |
1100 |
c
|
HTR010 |
Heterotaxy, Visceral, 4, Autosomal |
32 |
1101 |
c
|
DMN005 |
Diamond-Blackfan Anemia 2 |
32 |
1102 |
c
|
GLL040 |
Galloway-Mowat Syndrome 3 |
32 |
1103 |
c
|
BRT039 |
Baraitser-Winter Syndrome 2 |
32 |
1104 |
c
|
CRN303 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
32 |
1105 |
c
|
CTR185 |
Cataract 30 |
32 |
1106 |
c
|
DMN049 |
Diamond-Blackfan Anemia 20 |
32 |
1107 |
c
|
ECT066 |
Ectodermal Dysplasia 9, Hair/nail Type |
32 |
1108 |
c
|
EPL200 |
Epilepsy, Childhood Absence 1 |
31 |
1109 |
c
|
TYP038 |
Type 1 Diabetes Mellitus 15 |
31 |
1110 |
|
FBR097 |
Fibrosis, Neurodegeneration, and Cerebral Angiomatosis |
31 |
1111 |
c
|
SHR104 |
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly |
31 |
1112 |
c
|
TRC103 |
Trichothiodystrophy 5, Nonphotosensitive |
31 |
1113 |
c
|
SCK033 |
Seckel Syndrome 8 |
31 |
1114 |
c
|
CLR069 |
Ciliary Dyskinesia, Primary, 8 |
31 |
1115 |
c
|
STS008 |
Sotos Syndrome 1 |
31 |
1116 |
c
|
DVL119 |
Developmental and Epileptic Encephalopathy 6b |
31 |
1117 |
|
WSS006 |
Weiss-Kruszka Syndrome |
31 |
1118 |
c
|
CNG514 |
Congenital Radioulnar Synostosis |
31 |
1119 |
|
MCR365 |
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 |
31 |
1120 |
c
|
ORF048 |
Orofacial Cleft 1 |
31 |
1121 |
P
|
ART169 |
Arthrogryposis Multiplex Congenita 6 |
31 |
1122 |
c
|
PSD107 |
Pseudo-Torch Syndrome 2 |
31 |
1123 |
c
|
NGH028 |
Night Blindness, Congenital Stationary, Type 1d |
31 |
1124 |
|
HYP711 |
Hypotonia, Ataxia, and Delayed Development Syndrome |
31 |
1125 |
c
|
SLV028 |
Silver-Russell Syndrome 3 |
31 |
1126 |
c
|
EPL098 |
Epilepsy, Idiopathic Generalized 12 |
31 |
1127 |
|
RGD002 |
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal |
31 |
1128 |
|
MLR020 |
Malaria, Mild |
31 |
1129 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
31 |
1130 |
|
NRC022 |
Neurooculocardiogenitourinary Syndrome |
31 |
1131 |
|
NRD103 |
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae |
31 |
1132 |
c
|
EPL202 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
31 |
1133 |
c
|
RHM021 |
Rheumatoid Arthritis, Systemic Juvenile |
31 |
1134 |
c
|
TRG015 |
Trigonocephaly 2 |
31 |
1135 |
c
|
ALZ050 |
Alzheimer Disease 5 |
30 |
1136 |
c
|
CNR023 |
Cone-Rod Dystrophy 8 |
30 |
1137 |
c
|
MNK005 |
Menke-Hennekam Syndrome 1 |
30 |
1138 |
c
|
OPT023 |
Optic Atrophy 2 |
30 |
1139 |
c
|
ART060 |
Arthrogryposis, Distal, Type 1b |
30 |
1140 |
|
CRN126 |
Corneal Dystrophy, Lisch Epithelial |
30 |
1141 |
P
|
CRN249 |
Cornea Plana |
30 |
1142 |
c
|
JBR039 |
Joubert Syndrome 28 |
30 |
1143 |
c
|
SPS072 |
Spastic Ataxia 1, Autosomal Dominant |
30 |
1144 |
c
|
SHR100 |
Short-Rib Thoracic Dysplasia 15 with Polydactyly |
30 |
1145 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
30 |
1146 |
c
|
EPL205 |
Epilepsy, Idiopathic Generalized 13 |
30 |
1147 |
c
|
FNC062 |
Fanconi Anemia, Complementation Group S |
30 |
1148 |
c
|
PRG094 |
Paragangliomas 5 |
30 |
1149 |
c
|
INF086 |
Inflammatory Bowel Disease 3 |
30 |
1150 |
c
|
HLP021 |
Holoprosencephaly 6 |
30 |
1151 |
c
|
SPS240 |
Spastic Paraplegia 83, Autosomal Recessive |
30 |
1152 |
c
|
TRC117 |
Trichothiodystrophy 6, Nonphotosensitive |
30 |
1153 |
c
|
AML064 |
Amelogenesis Imperfecta, Type Iiic |
30 |
1154 |
|
HYP276 |
Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant |
30 |
1155 |
c
|
MRG016 |
Meier-Gorlin Syndrome 8 |
30 |
1156 |
c
|
SCK032 |
Seckel Syndrome 6 |
30 |
1157 |
c
|
SPH017 |
Spherocytosis, Type 5 |
30 |
1158 |
|
MYP163 |
Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay |
30 |
1159 |
|
CGN005 |
Cognitive Impairment with or Without Cerebellar Ataxia |
30 |
1160 |
|
LNG113 |
Liang-Wang Syndrome |
30 |
1161 |
c
|
INF064 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
30 |
1162 |
|
LBR035 |
Liberfarb Syndrome |
30 |
1163 |
c
|
ORF014 |
Orofacial Cleft 5 |
30 |
1164 |
c
|
EPL091 |
Epilepsy, Idiopathic Generalized 3 |
29 |
1165 |
c
|
OCL047 |
Oculodentodigital Dysplasia, Autosomal Recessive |
29 |
1166 |
c
|
HYP532 |
Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
29 |
1167 |
c
|
CLR067 |
Ciliary Dyskinesia, Primary, 4 |
29 |
1168 |
|
BMB001 |
Bombay Phenotype |
29 |
1169 |
c
|
KLP008 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
29 |
1170 |
|
CMB083 |
Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia |
29 |
1171 |
c
|
SPN203 |
Spinocerebellar Ataxia, X-Linked 5 |
29 |
1172 |
c
|
DBT107 |
Diabetes Mellitus, Permanent Neonatal, 4 |
29 |
1173 |
c
|
SPS170 |
Spastic Ataxia 2 |
29 |
1174 |
|
ALR002 |
Al-Raqad Syndrome |
29 |
1175 |
c
|
KRT029 |
Keratoconus 1 |
29 |
1176 |
c
|
VSC067 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
29 |
1177 |
|
TRN074 |
Turnpenny-Fry Syndrome |
29 |
1178 |
|
MYP120 |
Myopathy, Distal, with Rimmed Vacuoles |
29 |
1179 |
c
|
SPL070 |
Split-Hand/foot Malformation 2 |
29 |
1180 |
P
|
DYS190 |
Dystonia 28, Childhood-Onset |
29 |
1181 |
c
|
CNG520 |
Congenital Heart Defects, Multiple Types, 6 |
29 |
1182 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
1183 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
29 |
1184 |
c
|
ORF028 |
Orofacial Cleft 10 |
29 |
1185 |
c
|
MRG011 |
Meier-Gorlin Syndrome 4 |
29 |
1186 |
c
|
CNR039 |
Cone-Rod Dystrophy, X-Linked, 2 |
29 |
1187 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
29 |
1188 |
c
|
ATR034 |
Atrial Septal Defect 6 |
29 |
1189 |
|
MNT308 |
Mental Retardation with Optic Atrophy, Deafness, and Seizures |
29 |
1190 |
c
|
FNC066 |
Fanconi Renotubular Syndrome 5 |
29 |
1191 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
29 |
1192 |
c
|
SCH080 |
Schizophrenia 3 |
29 |
1193 |
|
FCT032 |
Factor Xiii, a Subunit, Deficiency of |
29 |
1194 |
c
|
DMN022 |
Diamond-Blackfan Anemia 9 |
29 |
1195 |
|
INS034 |
Insulinomatosis and Diabetes Mellitus |
29 |
1196 |
|
HMP033 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, with or Without Microvillus Inclusion Disease |
29 |
1197 |
c
|
CNG478 |
Congenital Diarrhea |
29 |
1198 |
c
|
HYP522 |
Hypogonadotropic Hypogonadism 11 with or Without Anosmia |
29 |
1199 |
c
|
ATS314 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
29 |
1200 |
c
|
INF089 |
Inflammatory Bowel Disease 6 |
29 |
1201 |
c
|
ALZ059 |
Alzheimer Disease 13 |
28 |
1202 |
c
|
DRR021 |
Diarrhea 11, Malabsorptive, Congenital |
28 |
1203 |
c
|
FRS015 |
Fraser Syndrome 3 |
28 |
1204 |
c
|
SCH064 |
Schizophrenia 10 |
28 |
1205 |
|
ATR088 |
Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects |
28 |
1206 |
c
|
SYN064 |
Syndromic X-Linked Intellectual Disability |
28 |
1207 |
c
|
PRM192 |
Premature Ovarian Failure 8 |
28 |
1208 |
c
|
TRM022 |
Tremor, Hereditary Essential, 5 |
28 |
1209 |
c
|
TRM020 |
Tremor, Hereditary Essential, 2 |
28 |
1210 |
|
CHR399 |
Chromosome 4q21 Deletion Syndrome |
28 |
1211 |
|
HYP859 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities |
28 |
1212 |
|
IMM002 |
Immature Cataract |
28 |
1213 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
28 |
1214 |
c
|
CLR123 |
Ciliary Dyskinesia, Primary, 37 |
28 |
1215 |
|
SPS245 |
Spastic Paraplegia 56, Autosomal Recessive, with or Without Pseudoxanthoma Elasticum |
28 |
1216 |
c
|
BNM032 |
Bone Marrow Failure Syndrome 4 |
28 |
1217 |
c
|
AGM015 |
Agammaglobulinemia 7, Autosomal Recessive |
28 |
1218 |
|
SND015 |
Sandestig-Stefanova Syndrome |
28 |
1219 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
28 |
1220 |
c
|
SPN380 |
Spinal Muscular Atrophy with Congenital Bone Fractures 2 |
28 |
1221 |
c
|
HML035 |
Hemolytic Uremic Syndrome, Atypical 2 |
28 |
1222 |
|
MYC092 |
Myoectodermal Gonadal Dysgenesis Syndrome |
28 |
1223 |
c
|
GNT045 |
Giant Axonal Neuropathy 2 |
28 |
1224 |
|
NRD083 |
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies |
28 |
1225 |
c
|
PRM090 |
Premature Ovarian Failure 6 |
28 |
1226 |
c
|
CRN120 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
28 |
1227 |
|
JNS007 |
Jansen-De Vries Syndrome |
28 |
1228 |
c
|
HYP528 |
Hypotrichosis 11 |
28 |
1229 |
c
|
PRM089 |
Premature Ovarian Failure 3 |
28 |
1230 |
|
CMB077 |
Combined Oxidative Phosphorylation Deficiency 30 |
28 |
1231 |
c
|
MLG080 |
Malignant Secondary Hypertension |
28 |
1232 |
c
|
PRM094 |
Premature Ovarian Failure 5 |
28 |
1233 |
P
|
ADP010 |
Adiponectin, Serum Level of, Quantitative Trait Locus 1 |
28 |
1234 |
c
|
DMN019 |
Diamond-Blackfan Anemia 4 |
28 |
1235 |
P
|
PRT259 |
Proteasome-Associated Autoinflammatory Syndrome |
28 |
1236 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
28 |
1237 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
28 |
1238 |
c
|
SCH061 |
Schizophrenia 16 |
28 |
1239 |
c
|
PRM207 |
Premature Ovarian Failure 10 |
28 |
1240 |
c
|
MGL028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
28 |
1241 |
c
|
LPR007 |
Leopard Syndrome 3 |
28 |
1242 |
c
|
DYS121 |
Dyslexia 1 |
28 |
1243 |
c
|
NRL039 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 |
28 |
1244 |
|
NRD080 |
Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities |
28 |
1245 |
c
|
LNG052 |
Long Qt Syndrome 8 |
28 |
1246 |
c
|
HTR009 |
Heterotaxy, Visceral, 2, Autosomal |
27 |
1247 |
c
|
DBT105 |
Diabetes Mellitus, Permanent Neonatal, 2 |
27 |
1248 |
c
|
NLD007 |
Nail Disorder, Nonsyndromic Congenital, 7 |
27 |
1249 |
c
|
UVS005 |
Uv-Sensitive Syndrome 1 |
27 |
1250 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
27 |
1251 |
|
NRD124 |
Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities |
27 |
1252 |
P
|
AST056 |
Asthma-Related Traits 2 |
27 |
1253 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
27 |
1254 |
|
PRM087 |
Premature Chromatid Separation Trait |
27 |
1255 |
|
MTR001 |
Mature Cataract |
27 |
1256 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
27 |
1257 |
c
|
CRN110 |
Cranioectodermal Dysplasia 3 |
27 |
1258 |
c
|
SHR129 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
27 |
1259 |
c
|
TLN008 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
27 |
1260 |
c
|
SPS136 |
Spastic Ataxia 3, Autosomal Recessive |
27 |
1261 |
c
|
CLR054 |
Ciliary Dyskinesia, Primary, 12 |
27 |
1262 |
P
|
PST016 |
Posterior Polar Cataract |
27 |
1263 |
c
|
MLT078 |
Multiple Synostoses Syndrome 3 |
27 |
1264 |
|
CHR366 |
Chromosome 5p13 Duplication Syndrome |
27 |
1265 |
c
|
SCH053 |
Schizophrenia 13 |
27 |
1266 |
c
|
INT563 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
27 |
1267 |
c
|
ART167 |
Arthrogryposis Multiplex Congenita 5 |
27 |
1268 |
c
|
46X048 |
46,xx Sex Reversal 2 |
27 |
1269 |
P
|
NRD134 |
Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies |
27 |
1270 |
|
HRS016 |
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction |
27 |
1271 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
1272 |
c
|
INF072 |
Inflammatory Bowel Disease 11 |
27 |
1273 |
|
INC037 |
Inclusion Body Myopathy and Brain White Matter Abnormalities |
27 |
1274 |
|
CMP094 |
Complement Component 4b Deficiency |
27 |
1275 |
c
|
DVL120 |
Developmental and Epileptic Encephalopathy 95 |
27 |
1276 |
c
|
BRG010 |
Brugada Syndrome 8 |
27 |
1277 |
|
CMP095 |
Complement Component 4a Deficiency |
27 |
1278 |
c
|
MCR282 |
Microcephaly and Chorioretinopathy 1 |
27 |
1279 |
|
DGC001 |
Degcags Syndrome |
27 |
1280 |
c
|
DVL088 |
Developmental and Epileptic Encephalopathy 64 |
27 |
1281 |
c
|
SPS171 |
Spastic Ataxia 5 |
27 |
1282 |
c
|
HML034 |
Hemolytic Uremic Syndrome, Atypical 3 |
27 |
1283 |
c
|
HYP578 |
Hypotrichosis 12 |
27 |
1284 |
c
|
ENC060 |
Encephalopathy, Acute, Infection-Induced 1 |
27 |
1285 |
|
DVL021 |
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities |
27 |
1286 |
c
|
RBN023 |
Robinow Syndrome, Autosomal Recessive 2 |
27 |
1287 |
c
|
STS011 |
Sitosterolemia 2 |
27 |
1288 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
27 |
1289 |
|
SNJ003 |
Snijders Blok-Fisher Syndrome |
27 |
1290 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
27 |
1291 |
|
PRT043 |
Parietal Foramina with Cleidocranial Dysplasia |
27 |
1292 |
c
|
ACR124 |
Aicardi-Goutieres Syndrome 9 |
27 |
1293 |
|
LKN032 |
Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness |
26 |
1294 |
|
DLC002 |
D-Lactic Aciduria with Gout |
26 |
1295 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
26 |
1296 |
c
|
GLL027 |
Gallbladder Disease 4 |
26 |
1297 |
c
|
CNG511 |
Congenital Heart Defects, Multiple Types, 2 |
26 |
1298 |
c
|
HML037 |
Hemolytic Uremic Syndrome, Atypical 5 |
26 |
1299 |
|
STN014 |
Stankiewicz-Isidor Syndrome |
26 |
1300 |
|
DHS002 |
Deeah Syndrome |
26 |
1301 |
|
MYP165 |
Myopathy, Epilepsy, and Progressive Cerebral Atrophy |
26 |
1302 |
c
|
PLZ002 |
Pelizaeus-Merzbacher-Like Disease |
26 |
1303 |
|
FBR100 |
Fibromuscular Dysplasia, Multifocal |
26 |
1304 |
c
|
HYP557 |
Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
26 |
1305 |
c
|
NBS001 |
Nabais Sa-De Vries Syndrome, Type 1 |
26 |
1306 |
c
|
EPL089 |
Epilepsy, Idiopathic Generalized 4 |
26 |
1307 |
c
|
HYP443 |
Hypogonadotropic Hypogonadism 13 with or Without Anosmia |
26 |
1308 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
26 |
1309 |
c
|
HTR020 |
Heterotaxy, Visceral, 8, Autosomal |
26 |
1310 |
c
|
MCR219 |
Microphthalmia, Isolated 8 |
26 |
1311 |
c
|
MRG014 |
Meier-Gorlin Syndrome 6 |
26 |
1312 |
c
|
PRM091 |
Premature Ovarian Failure 2b |
26 |
1313 |
c
|
FRM005 |
Frmd7-Related Infantile Nystagmus |
26 |
1314 |
|
MTC178 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
26 |
1315 |
c
|
AMY074 |
Amyotrophic Lateral Sclerosis Type 14 |
26 |
1316 |
|
CMB072 |
Combined Oxidative Phosphorylation Deficiency 28 |
26 |
1317 |
|
BLR033 |
Biliary, Renal, Neurologic, and Skeletal Syndrome |
26 |
1318 |
c
|
BRN143 |
Bronchiectasis 1 |
26 |
1319 |
|
CNZ011 |
Coenzyme Q10 Deficiency, Primary, 8 |
26 |
1320 |
c
|
HYP521 |
Hypogonadotropic Hypogonadism 10 with or Without Anosmia |
26 |
1321 |
c
|
PRM254 |
Premature Ovarian Failure 11 |
26 |
1322 |
|
FGS002 |
Fg Syndrome 2 |
26 |
1323 |
c
|
GLL042 |
Galloway-Mowat Syndrome 5 |
26 |
1324 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
26 |
1325 |
c
|
HTR023 |
Heterotaxy, Visceral, 6, Autosomal |
26 |
1326 |
c
|
EPL261 |
Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders |
26 |
1327 |
c
|
ART102 |
Arterial Calcification, Generalized, of Infancy, 2 |
26 |
1328 |
c
|
46X046 |
46,xy Sex Reversal 4 |
26 |
1329 |
c
|
HML032 |
Hemolytic Uremic Syndrome, Atypical 4 |
26 |
1330 |
c
|
DVL127 |
Developmental and Epileptic Encephalopathy 98 |
26 |
1331 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
1332 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
26 |
1333 |
c
|
DVL128 |
Developmental and Epileptic Encephalopathy 99 |
26 |
1334 |
|
RHN013 |
Rh-Null, Regulator Type |
26 |
1335 |
c
|
OPT025 |
Optic Atrophy 6 |
26 |
1336 |
c
|
SPN455 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
26 |
1337 |
c
|
HYP884 |
Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive |
26 |
1338 |
c
|
OCY003 |
Oocyte Maturation Defect 1 |
26 |
1339 |
c
|
SYN088 |
Synpolydactyly 2 |
26 |
1340 |
c
|
TWN010 |
Townes-Brocks Syndrome 2 |
26 |
1341 |
c
|
HRM020 |
Hermansky-Pudlak Syndrome 10 |
26 |
1342 |
c
|
PRM253 |
Premature Ovarian Failure 13 |
26 |
1343 |
c
|
JBR049 |
Joubert Syndrome 37 |
26 |
1344 |
c
|
ALZ014 |
Alzheimer Disease 16 |
26 |
1345 |
|
HYP814 |
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency |
26 |
1346 |
c
|
SHR116 |
Short-Rib Thoracic Dysplasia 20 with Polydactyly |
26 |
1347 |
c
|
SCH084 |
Schizophrenia 8 |
26 |
1348 |
c
|
PRR022 |
Perrault Syndrome 2 |
26 |
1349 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
26 |
1350 |
c
|
DBT106 |
Diabetes Mellitus, Permanent Neonatal, 3 |
26 |
1351 |
c
|
EPL093 |
Epilepsy, Idiopathic Generalized 7 |
26 |
1352 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
1353 |
c
|
RDL040 |
Radioulnar Synostosis, Nonsyndromic |
26 |
1354 |
c
|
SPN401 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
26 |
1355 |
|
SDD009 |
Sudden Cardiac Failure, Infantile |
26 |
1356 |
c
|
CTR121 |
Cataract 25 |
26 |
1357 |
c
|
HTR018 |
Heterotaxy, Visceral, 7, Autosomal |
25 |
1358 |
c
|
LTH042 |
Lethal Congenital Contracture Syndrome 10 |
25 |
1359 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
1360 |
c
|
HYP444 |
Hypogonadotropic Hypogonadism 9 with or Without Anosmia |
25 |
1361 |
c
|
FNC061 |
Fanconi Anemia, Complementation Group W |
25 |
1362 |
|
TNR001 |
Tenorio Syndrome |
25 |
1363 |
c
|
MLT151 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
25 |
1364 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
25 |
1365 |
c
|
NNP011 |
Nanophthalmos 2 |
25 |
1366 |
c
|
ORF025 |
Orofacial Cleft 6 |
25 |
1367 |
c
|
GLL045 |
Galloway-Mowat Syndrome 6 |
25 |
1368 |
P
|
MNK007 |
Menke-Hennekam Syndrome |
25 |
1369 |
c
|
ORF023 |
Orofacial Cleft 4 |
25 |
1370 |
c
|
GLL046 |
Galloway-Mowat Syndrome 7 |
25 |
1371 |
c
|
RTS005 |
Ritscher-Schinzel Syndrome 4 |
25 |
1372 |
c
|
CNG521 |
Congenital Heart Defects, Multiple Types, 5 |
25 |
1373 |
|
DLY011 |
Delayed Puberty, Self-Limited |
25 |
1374 |
c
|
DRR018 |
Diarrhea 9 |
25 |
1375 |
c
|
INF082 |
Inflammatory Bowel Disease 23 |
25 |
1376 |
c
|
HYP833 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
25 |
1377 |
c
|
ATS370 |
Autism 3 |
25 |
1378 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
25 |
1379 |
c
|
OPT060 |
Optic Atrophy 8 |
25 |
1380 |
c
|
LNG114 |
Long Qt Syndrome 16 |
25 |
1381 |
c
|
BNG021 |
Benign Essential Hypertension |
25 |
1382 |
c
|
DVL032 |
Developmental and Epileptic Encephalopathy 90 |
25 |
1383 |
c
|
DYS212 |
Dystonia 30 |
25 |
1384 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
25 |
1385 |
|
GND018 |
Gene Duplication Disease |
25 |
1386 |
|
CRB041 |
Carboxypeptidase N Deficiency |
25 |
1387 |
c
|
SYM019 |
Symphalangism, Proximal, 1b |
25 |
1388 |
c
|
DVL131 |
Developmental and Epileptic Encephalopathy 100 |
25 |
1389 |
|
SDD011 |
Siddiqi Syndrome |
25 |
1390 |
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
25 |
1391 |
c
|
ANX011 |
Anauxetic Dysplasia 3 |
25 |
1392 |
c
|
PRT136 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
25 |
1393 |
c
|
CHR465 |
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity |
25 |
1394 |
|
MRG001 |
Morgagni Cataract |
25 |
1395 |
P
|
PRK067 |
Porokeratosis 8, Disseminated Superficial Actinic Type |
25 |
1396 |
|
ALZ029 |
Alzheimer Disease Mitochondrial |
25 |
1397 |
c
|
TRS025 |
Torsion Dystonia 2 |
25 |
1398 |
|
CNG512 |
Congenital Disorder of Glycosylation, Type Iaa |
25 |
1399 |
c
|
DMN045 |
Diamond-Blackfan Anemia-Like |
25 |
1400 |
c
|
BLP049 |
Blepharocheilodontic Syndrome 2 |
25 |
1401 |
c
|
PRR026 |
Perrault Syndrome 5 |
25 |
1402 |
c
|
INT407 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
25 |
1403 |
|
NRD141 |
Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities |
25 |
1404 |
|
FND007 |
Faundes-Banka Syndrome |
25 |
1405 |
c
|
ALZ015 |
Alzheimer Disease 6 |
25 |
1406 |
c
|
MNK006 |
Menke-Hennekam Syndrome 2 |
25 |
1407 |
c
|
GLL041 |
Galloway-Mowat Syndrome 4 |
25 |
1408 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
1409 |
c
|
DYS120 |
Dyslexia 2 |
25 |
1410 |
P
|
OCY002 |
Oocyte Maturation Defect 2 |
25 |
1411 |
|
NRD114 |
Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities |
25 |
1412 |
|
SHR128 |
Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay |
25 |
1413 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
25 |
1414 |
c
|
CLR107 |
Ciliary Dyskinesia, Primary, 24 |
25 |
1415 |
c
|
KNB005 |
Knobloch Syndrome 2 |
25 |
1416 |
|
HYP865 |
Hypogonadotropic Hypogonadism 25 with Anosmia |
25 |
1417 |
c
|
STS007 |
Sotos Syndrome 2 |
25 |
1418 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
24 |
1419 |
c
|
LYS031 |
Loeys-Dietz Syndrome 6 |
24 |
1420 |
|
CMB100 |
Combined Oxidative Phosphorylation Deficiency 44 |
24 |
1421 |
c
|
MYM003 |
Moyamoya Disease 5 |
24 |
1422 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
24 |
1423 |
c
|
HYP882 |
Hypogonadotropic Hypogonadism 26 with or Without Anosmia |
24 |
1424 |
|
CHR362 |
Chromosome 17q21.31 Duplication Syndrome |
24 |
1425 |
c
|
SCK037 |
Seckel Syndrome 9 |
24 |
1426 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
1427 |
c
|
ORF047 |
Orofacial Cleft 15 |
24 |
1428 |
|
CHR569 |
Chromosomal Duplication Syndrome |
24 |
1429 |
c
|
CNR027 |
Cone-Rod Dystrophy 17 |
24 |
1430 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
24 |
1431 |
|
NRD100 |
Neurodevelopmental, Jaw, Eye, and Digital Syndrome |
24 |
1432 |
c
|
SCK038 |
Seckel Syndrome 10 |
24 |
1433 |
c
|
ALZ061 |
Alzheimer Disease 15 |
24 |
1434 |
|
CMP063 |
Complement Factor B Deficiency |
24 |
1435 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
24 |
1436 |
c
|
INF092 |
Inflammatory Bowel Disease 9 |
24 |
1437 |
c
|
NNN038 |
Noonan Syndrome 14 |
24 |
1438 |
c
|
DYS068 |
Dystonia 7, Torsion |
24 |
1439 |
|
KHN002 |
Khan-Khan-Katsanis Syndrome |
24 |
1440 |
c
|
SLV031 |
Silver-Russell Syndrome 5 |
24 |
1441 |
|
AML013 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
24 |
1442 |
c
|
PRC034 |
Preeclampsia/eclampsia 4 |
24 |
1443 |
|
CHR490 |
Chromosome 10q23 Deletion Syndrome |
24 |
1444 |
|
CHR607 |
Chorea, Childhood-Onset, with Psychomotor Retardation |
24 |
1445 |
P
|
BRY006 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
24 |
1446 |
c
|
MCK037 |
Meckel Syndrome 14 |
24 |
1447 |
|
ATN024 |
Autoinflammation, Immune Dysregulation, and Eosinophilia |
24 |
1448 |
c
|
DWL003 |
Dowling-Degos Disease 2 |
24 |
1449 |
c
|
HYP762 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
24 |
1450 |
c
|
TTH012 |
Tooth Agenesis, Selective, 3 |
24 |
1451 |
c
|
AML050 |
Amelogenesis Imperfecta, Type if |
24 |
1452 |
|
RBN013 |
Robinow-Sorauf Syndrome |
24 |
1453 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
24 |
1454 |
c
|
INF074 |
Inflammatory Bowel Disease 15 |
24 |
1455 |
|
PRT130 |
Protein Z Deficiency |
24 |
1456 |
c
|
MTH083 |
Methemoglobinemia, Beta Type |
24 |
1457 |
c
|
DMN028 |
Diamond-Blackfan Anemia 12 |
24 |
1458 |
c
|
DYS217 |
Dyskinesia with Orofacial Involvement, Autosomal Recessive |
24 |
1459 |
|
MTC162 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
24 |
1460 |
c
|
HYP857 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
24 |
1461 |
|
SHR131 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies |
24 |
1462 |
c
|
MCR243 |
Microcephaly 8, Primary, Autosomal Recessive |
24 |
1463 |
c
|
PSD121 |
Pseudo-Torch Syndrome 3 |
24 |
1464 |
|
FCT033 |
Factor Xiii, B Subunit, Deficiency of |
24 |
1465 |
c
|
MGL029 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
24 |
1466 |
c
|
SYS081 |
Systemic Lupus Erythematosus 17 |
24 |
1467 |
c
|
SCH082 |
Schizophrenia 5 |
24 |
1468 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
1469 |
P
|
HRM021 |
Hair Morphology 2 |
24 |
1470 |
|
MCR366 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome |
24 |
1471 |
c
|
46X059 |
46,xx Sex Reversal 4 |
24 |
1472 |
c
|
PRM292 |
Premature Ovarian Failure 14 |
24 |
1473 |
c
|
SPS214 |
Spastic Ataxia 4 |
24 |
1474 |
c
|
MCR272 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 |
24 |
1475 |
c
|
CNG616 |
Congenital Heart Defects, Multiple Types, 7 |
24 |
1476 |
c
|
DPH016 |
Diaphragmatic Hernia 3 |
24 |
1477 |
|
CTR107 |
Cataract 13 with Adult I Phenotype |
24 |
1478 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
24 |
1479 |
c
|
CLR139 |
Ciliary Dyskinesia, Primary, 39 |
24 |
1480 |
|
CMB115 |
Combined Oxidative Phosphorylation Deficiency 55 |
24 |
1481 |
c
|
GRN065 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
24 |
1482 |
c
|
DYS138 |
Dystonia 21 |
23 |
1483 |
|
MYP073 |
Myopia, High, with Cataract and Vitreoretinal Degeneration |
23 |
1484 |
c
|
PRM349 |
Premature Ovarian Failure 18 |
23 |
1485 |
|
INS015 |
Inosine Triphosphatase Deficiency |
23 |
1486 |
|
LPS021 |
Lopes-Maciel-Rodan Syndrome |
23 |
1487 |
|
CMB103 |
Combined Oxidative Phosphorylation Deficiency 47 |
23 |
1488 |
|
HML010 |
Hemolytic Anemia Due to Glutathione Reductase Deficiency |
23 |
1489 |
c
|
GLL053 |
Galloway-Mowat Syndrome 10 |
23 |
1490 |
c
|
ALZ032 |
Alzheimer Disease 18 |
23 |
1491 |
|
XLN076 |
X-Linked Cerebellar Ataxia |
23 |
1492 |
c
|
AMY109 |
Amyotrophic Lateral Sclerosis Type 22 |
23 |
1493 |
c
|
LDD008 |
Liddle Syndrome 2 |
23 |
1494 |
c
|
ENC037 |
Encephalopathy, Acute, Infection-Induced 6 |
23 |
1495 |
c
|
GLY107 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
23 |
1496 |
c
|
MCR361 |
Microcephaly 21, Primary, Autosomal Recessive |
23 |
1497 |
c
|
PRC045 |
Preeclampsia/eclampsia 5 |
23 |
1498 |
c
|
CTR157 |
Cataract 28 |
23 |
1499 |
|
MYM015 |
Moyamoya Disease 6 with or Without Achalasia |
23 |
1500 |
c
|
MCR283 |
Microcephaly and Chorioretinopathy 2 |
23 |
1501 |
|
MTC176 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
23 |
1502 |
P
|
NNP004 |
Nonphotosensitive Trichothiodystrophy |
23 |
1503 |
c
|
SCH088 |
Schwannomatosis 2 |
23 |
1504 |
P
|
HYP893 |
Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 |
23 |
1505 |
c
|
PRM191 |
Premature Ovarian Failure 9 |
23 |
1506 |
|
NRD117 |
Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities |
23 |
1507 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
23 |
1508 |
c
|
ORF016 |
Orofacial Cleft 8 |
23 |
1509 |
c
|
MTC236 |
Mitochondrial Dna Depletion Syndrome 20 |
23 |
1510 |
c
|
STS009 |
Sotos Syndrome 3 |
23 |
1511 |
c
|
AGM028 |
Agammaglobulinemia 8b, Autosomal Recessive |
23 |
1512 |
c
|
RJB004 |
Rajab Interstitial Lung Disease with Brain Calcifications 2 |
23 |
1513 |
|
ZKS001 |
Zaki Syndrome |
23 |
1514 |
|
ACC008 |
Accelerated Tumor Formation |
23 |
1515 |
|
NRD128 |
Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities |
23 |
1516 |
c
|
ZMM003 |
Zimmermann-Laband Syndrome 2 |
23 |
1517 |
|
WBB001 |
Webb-Dattani Syndrome |
23 |
1518 |
P
|
ISL020 |
Isolated Microphthalmia |
23 |
1519 |
|
CNZ012 |
Coenzyme Q10 Deficiency, Primary, 9 |
23 |
1520 |
c
|
DYS219 |
Dystonia 33 |
23 |
1521 |
c
|
46X056 |
46,xy Sex Reversal 5 |
23 |
1522 |
c
|
FNC049 |
Fanconi Renotubular Syndrome 3 |
23 |
1523 |
|
ALZ044 |
Alazami-Yuan Syndrome |
23 |
1524 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
1525 |
|
TWN007 |
Twinning, Dizygotic |
23 |
1526 |
|
LYS024 |
Lysosomal and Lipase Deficiency |
23 |
1527 |
|
GLL039 |
Galloway-Mowat Syndrome 2, X-Linked |
23 |
1528 |
c
|
ANG072 |
Angioedema, Hereditary, 4 |
23 |
1529 |
c
|
BRY007 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
23 |
1530 |
c
|
PRT255 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
23 |
1531 |
|
PLY167 |
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
23 |
1532 |
c
|
MLG039 |
Malignant Essential Hypertension |
23 |
1533 |
|
NRD137 |
Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities |
23 |
1534 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
23 |
1535 |
c
|
GLL047 |
Galloway-Mowat Syndrome 8 |
23 |
1536 |
c
|
EPL136 |
Epilepsy, Childhood Absence 5 |
23 |
1537 |
c
|
HYP871 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
23 |
1538 |
c
|
DMN030 |
Diamond-Blackfan Anemia 13 |
23 |
1539 |
c
|
SYN082 |
Syndromic X-Linked Intellectual Disability 14 |
23 |
1540 |
c
|
BNM033 |
Bone Marrow Failure Syndrome 5 |
23 |
1541 |
c
|
AGM027 |
Agammaglobulinemia 8a, Autosomal Dominant |
23 |
1542 |
|
SLM004 |
Suleiman-El-Hattab Syndrome |
23 |
1543 |
c
|
DYS216 |
Dystonia 32 |
23 |
1544 |
P
|
MCL058 |
Macular Degeneration, Early-Onset |
23 |
1545 |
P
|
HYP885 |
Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant |
23 |
1546 |
|
SHR130 |
Short Stature, Dauber-Argente Type |
22 |
1547 |
|
MTC219 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
22 |
1548 |
|
ART135 |
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy |
22 |
1549 |
c
|
DVL132 |
Developmental and Epileptic Encephalopathy 101 |
22 |
1550 |
c
|
CRB168 |
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 |
22 |
1551 |
c
|
SCK022 |
Sick Sinus Syndrome 3 |
22 |
1552 |
c
|
MRT011 |
Martsolf Syndrome 2 |
22 |
1553 |
c
|
SPS163 |
Spastic Ataxia 3 |
22 |
1554 |
c
|
PLD003 |
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
22 |
1555 |
c
|
ALZ060 |
Alzheimer Disease 14 |
22 |
1556 |
c
|
AGM025 |
Agammaglobulinemia 9, Autosomal Recessive |
22 |
1557 |
c
|
HYP876 |
Hypertriglyceridemia 2 |
22 |
1558 |
c
|
ATS376 |
Autism 15 |
22 |
1559 |
c
|
ATS474 |
Autism 20 |
22 |
1560 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
22 |
1561 |
c
|
ATS369 |
Autism 8 |
22 |
1562 |
c
|
EPL092 |
Epilepsy, Idiopathic Generalized 2 |
22 |
1563 |
c
|
CRN147 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
22 |
1564 |
|
ALP088 |
Alpha-Fetoprotein, Hereditary Persistence of |
22 |
1565 |
c
|
ALZ031 |
Alzheimer Disease 17 |
22 |
1566 |
|
LKD024 |
Leukodystrophy and Acquired Microcephaly with or Without Dystonia |
22 |
1567 |
c
|
CLD017 |
Cold-Induced Sweating Syndrome 3 |
22 |
1568 |
c
|
ATS438 |
Autosomal Recessive Spastic Ataxia |
22 |
1569 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
22 |
1570 |
c
|
WHT015 |
White Sponge Nevus 2 |
22 |
1571 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
22 |
1572 |
|
CYN002 |
Cyanosis, Transient Neonatal |
22 |
1573 |
c
|
OCY004 |
Oocyte Maturation Defect 3 |
22 |
1574 |
c
|
TRC127 |
Trichothiodystrophy 8, Nonphotosensitive |
22 |
1575 |
c
|
INF195 |
Inflammatory Bowel Disease 31, Autosomal Recessive |
22 |
1576 |
|
ATN029 |
Autoinflammatory-Pancytopenia Syndrome |
22 |
1577 |
c
|
DVL124 |
Developmental and Epileptic Encephalopathy 97 |
22 |
1578 |
c
|
HTR029 |
Heterotaxy, Visceral, 12, Autosomal |
22 |
1579 |
|
NRD121 |
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures |
22 |
1580 |
|
ACT240 |
Actn3 Deficiency |
22 |
1581 |
c
|
CTR106 |
Cataract 20, Multiple Types |
22 |
1582 |
c
|
SYS040 |
Systemic Lupus Erythematosus 10 |
22 |
1583 |
c
|
MCR244 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 |
22 |
1584 |
|
IMM245 |
Immunodeficiency 82 with Systemic Inflammation |
22 |
1585 |
|
MTC203 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
22 |
1586 |
c
|
LKN034 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 |
22 |
1587 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
22 |
1588 |
c
|
RTN148 |
Retinitis Pigmentosa 63 |
22 |
1589 |
|
KRY003 |
Kury-Isidor Syndrome |
22 |
1590 |
P
|
PRM176 |
Premature Ovarian Failure 2a |
22 |
1591 |
|
MTC156 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
22 |
1592 |
c
|
CLR124 |
Ciliary Dyskinesia, Primary, 34 |
22 |
1593 |
|
NRD125 |
Neurodevelopmental Disorder with Seizures and Gingival Overgrowth |
22 |
1594 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
22 |
1595 |
|
CMB107 |
Combined Oxidative Phosphorylation Deficiency 51 |
22 |
1596 |
|
VNT039 |
Ventriculomegaly and Arthrogryposis |
22 |
1597 |
|
MTC095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
22 |
1598 |
c
|
NRC017 |
Narcolepsy 7 |
22 |
1599 |
c
|
DYS214 |
Dystonia 31 |
22 |
1600 |
c
|
EPL137 |
Epilepsy, Childhood Absence 6 |
22 |
1601 |
|
NCT013 |
N-Acetylaspartate Deficiency |
22 |
1602 |
c
|
CNG618 |
Congenital Nystagmus 1 |
22 |
1603 |
c
|
HYP712 |
Hypercalcemia, Infantile, 2 |
22 |
1604 |
|
CMP091 |
Complement Component C1s Deficiency |
22 |
1605 |
|
IMM266 |
Immunodeficiency 96 |
22 |
1606 |
c
|
GNT040 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
22 |
1607 |
|
MTC214 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
22 |
1608 |
|
IMM260 |
Immunodeficiency 91 and Hyperinflammation |
22 |
1609 |
c
|
DVL121 |
Developmental and Epileptic Encephalopathy 96 |
22 |
1610 |
c
|
SYS038 |
Systemic Lupus Erythematosus 2 |
22 |
1611 |
|
LPD042 |
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency |
22 |
1612 |
c
|
KRT075 |
Keratoconus 9 |
22 |
1613 |
|
ERY039 |
Erythrocyte Amp Deaminase Deficiency |
22 |
1614 |
c
|
SPS233 |
Spastic Ataxia 9, Autosomal Recessive |
22 |
1615 |
c
|
PST001 |
Posterior Myocardial Infarction |
22 |
1616 |
c
|
MCR362 |
Microcephaly 22, Primary, Autosomal Recessive |
22 |
1617 |
|
MTC232 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
22 |
1618 |
c
|
PRV016 |
Periventricular Nodular Heterotopia 6 |
22 |
1619 |
c
|
ATS169 |
Autosomal Recessive Congenital Stationary Night Blindness |
22 |
1620 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
22 |
1621 |
c
|
ENC063 |
Encephalopathy, Acute, Infection-Induced 7 |
22 |
1622 |
c
|
HYP858 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
22 |
1623 |
c
|
DVL134 |
Developmental and Epileptic Encephalopathy 102 |
22 |
1624 |
c
|
MTC213 |
Mitochondrial Dna Depletion Syndrome 19 |
21 |
1625 |
c
|
MRR010 |
Mirror Movements 2 |
21 |
1626 |
c
|
SPS191 |
Spastic Ataxia 7, Autosomal Dominant |
21 |
1627 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
21 |
1628 |
c
|
RST026 |
Restrictive Dermopathy 2 |
21 |
1629 |
c
|
ATS168 |
Autosomal Dominant Congenital Stationary Night Blindness |
21 |
1630 |
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
21 |
1631 |
c
|
HLP022 |
Holoprosencephaly 8 |
21 |
1632 |
c
|
PRG138 |
Paragangliomas 7 |
21 |
1633 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
21 |
1634 |
|
CMB098 |
Combined Oxidative Phosphorylation Deficiency 42 |
21 |
1635 |
c
|
PRM255 |
Premature Ovarian Failure 12 |
21 |
1636 |
c
|
RTS004 |
Ritscher-Schinzel Syndrome 3 |
21 |
1637 |
c
|
DVL135 |
Developmental and Epileptic Encephalopathy 103 |
21 |
1638 |
c
|
STC020 |
Stickler Syndrome, Type Vi |
21 |
1639 |
|
MTC233 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
21 |
1640 |
|
CHT005 |
Chitotriosidase Deficiency |
21 |
1641 |
|
NRF027 |
Neurofacioskeletal Syndrome with or Without Renal Agenesis |
21 |
1642 |
|
BDN003 |
Boudin-Mortier Syndrome |
21 |
1643 |
c
|
CLD022 |
Cleidocranial Dysplasia 2 |
21 |
1644 |
|
MTC161 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
21 |
1645 |
c
|
NRD152 |
Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies |
21 |
1646 |
|
HYP645 |
Hyperthyroxinemia, Dystransthyretinemic |
21 |
1647 |
c
|
NNP017 |
Nanophthalmos 1 |
21 |
1648 |
|
MTC201 |
Mitochondrial Complex V Deficiency, Nuclear Type 6 |
21 |
1649 |
c
|
MYC058 |
Myocardial Infarction 2 |
21 |
1650 |
c
|
ATM093 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
21 |
1651 |
|
ACT133 |
Acetylation, Slow |
21 |
1652 |
|
YNB001 |
Yoon-Bellen Neurodevelopmental Syndrome |
21 |
1653 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
21 |
1654 |
|
HYP806 |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy |
21 |
1655 |
c
|
PNT060 |
Pontocerebellar Hypoplasia, Type 17 |
21 |
1656 |
c
|
CTR144 |
Cataract 43 |
21 |
1657 |
c
|
STV011 |
Stuve-Wiedemann Syndrome 2 |
21 |
1658 |
c
|
PRT135 |
Protoporphyria, Erythropoietic, 2 |
21 |
1659 |
|
VNT040 |
Ventricular Arrhythmias Due to Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
21 |
1660 |
c
|
EPL072 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
21 |
1661 |
c
|
ENC062 |
Encephalopathy, Acute, Infection-Induced 5 |
21 |
1662 |
P
|
PRM016 |
Primary Optic Atrophy |
21 |
1663 |
|
TTN002 |
Tetanic Cataract |
21 |
1664 |
|
INT481 |
Intellectual Disability and Myopathy Syndrome |
21 |
1665 |
|
MTC089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
21 |
1666 |
c
|
DVL141 |
Developmental and Epileptic Encephalopathy 106 |
21 |
1667 |
c
|
INF087 |
Inflammatory Bowel Disease 4 |
21 |
1668 |
c
|
CRN328 |
Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2 |
21 |
1669 |
c
|
DWL004 |
Dowling-Degos Disease 4 |
21 |
1670 |
|
GMM011 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to |
21 |
1671 |
|
ADN039 |
Adenosine Triphosphate, Elevated, of Erythrocytes |
21 |
1672 |
|
DVL126 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities |
21 |
1673 |
|
VTR011 |
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia |
21 |
1674 |
c
|
MCR372 |
Microcephaly 25, Primary, Autosomal Recessive |
21 |
1675 |
|
CMB097 |
Combined Oxidative Phosphorylation Deficiency 41 |
21 |
1676 |
c
|
BRC080 |
Brachydactyly, Type A1, B |
21 |
1677 |
|
CRT003 |
Cortical Senile Cataract |
21 |
1678 |
c
|
OVR127 |
Ovarian Dysgenesis 9 |
21 |
1679 |
c
|
DYS223 |
Dystonia 28 |
21 |
1680 |
c
|
INF090 |
Inflammatory Bowel Disease 7 |
20 |
1681 |
c
|
DMN040 |
Diamond-Blackfan Anemia 16 |
20 |
1682 |
c
|
HYP573 |
Hypotrichosis 5 |
20 |
1683 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
20 |
1684 |
|
HYN001 |
Heyn-Sproul-Jackson Syndrome |
20 |
1685 |
c
|
OPT059 |
Optic Atrophy 4 |
20 |
1686 |
c
|
ATS378 |
Autism 17 |
20 |
1687 |
c
|
CTR159 |
Cataract 35 |
20 |
1688 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
20 |
1689 |
|
LKD036 |
Leukodystrophy, Hypomyelinating, 23, with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy |
20 |
1690 |
c
|
ERY068 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
20 |
1691 |
c
|
CHN071 |
Chondrodysplasia Punctata, Autosomal Dominant |
20 |
1692 |
c
|
GLL052 |
Galloway-Mowat Syndrome 9 |
20 |
1693 |
c
|
DVL136 |
Developmental and Epileptic Encephalopathy 104 |
20 |
1694 |
c
|
HYP883 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
20 |
1695 |
|
NRD155 |
Neurodevelopmental Disorder with Hypotonia, Impaired Speech, and Behavioral Abnormalities |
20 |
1696 |
c
|
PRM295 |
Premature Ovarian Failure 15 |
20 |
1697 |
|
RDC015 |
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction |
20 |
1698 |
c
|
WRD034 |
Waardenburg Syndrome, Type 2f |
20 |
1699 |
|
MTC148 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
20 |
1700 |
c
|
ANR046 |
Aniridia 3 |
20 |
1701 |
c
|
SLV030 |
Silver-Russell Syndrome 4 |
20 |
1702 |
c
|
HYP886 |
Hypoalphalipoproteinemia, Primary, 2, Intermediate |
20 |
1703 |
c
|
ENC072 |
Encephalopathy, Acute, Infection-Induced 10 |
20 |
1704 |
|
SPN422 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
20 |
1705 |
c
|
ORF049 |
Orofacial Cleft 3 |
20 |
1706 |
c
|
AGM026 |
Agammaglobulinemia 10, Autosomal Dominant |
20 |
1707 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
20 |
1708 |
|
HYP659 |
Hypomyelinating Leukoencephalopathy |
20 |
1709 |
c
|
ATM050 |
Autoimmune Thyroid Disease 3 |
20 |
1710 |
c
|
ANG073 |
Angioedema, Hereditary, 5 |
20 |
1711 |
|
ENC067 |
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis |
20 |
1712 |
|
NRD153 |
Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities |
20 |
1713 |
|
RHZ016 |
Rhizomelic Limb Shortening with Dysmorphic Features |
20 |
1714 |
c
|
ORF050 |
Orofacial Cleft 2 |
20 |
1715 |
c
|
PLY144 |
Polydactyly, Postaxial, Type A7 |
20 |
1716 |
c
|
ANG074 |
Angioedema, Hereditary, 6 |
20 |
1717 |
|
MCR381 |
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 |
20 |
1718 |
c
|
PSR022 |
Psoriasis 15, Pustular |
20 |
1719 |
c
|
TLN010 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
20 |
1720 |
|
TTH014 |
Tooth Agenesis, Selective, X-Linked, 1 |
20 |
1721 |
c
|
MCR363 |
Microcephaly 23, Primary, Autosomal Recessive |
20 |
1722 |
c
|
ATS377 |
Autism 16 |
20 |
1723 |
P
|
URC014 |
Uric Acid Concentration, Serum, Quantitative Trait Locus 1 |
20 |
1724 |
c
|
DBT098 |
Diabetes Mellitus, Transient Neonatal, 2 |
20 |
1725 |
c
|
HYD070 |
Hydrocephalus, Congenital Communicating, 1 |
20 |
1726 |
c
|
DMN039 |
Diamond-Blackfan Anemia 17 |
20 |
1727 |
c
|
DYS220 |
Dystonia 34, Myoclonic |
20 |
1728 |
P
|
ERY016 |
Erythropoietic Protoporphyria, Autosomal Recessive |
20 |
1729 |
c
|
INF080 |
Inflammatory Bowel Disease 21 |
20 |
1730 |
c
|
PRK025 |
Parkinson Disease 10 |
20 |
1731 |
|
MTC202 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
20 |
1732 |
|
SPN457 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
20 |
1733 |
|
MTC216 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
20 |
1734 |
c
|
HLP034 |
Holoprosencephaly 14 |
20 |
1735 |
|
ANN009 |
Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly |
20 |
1736 |
c
|
PRM378 |
Premature Ovarian Failure 20 |
20 |
1737 |
|
MCR388 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, and Persistent Fetal Hemoglobin |
20 |
1738 |
|
ATN030 |
Autoinflammatory Disease, Systemic, X-Linked |
20 |
1739 |
|
GRW045 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies |
20 |
1740 |
c
|
ANN021 |
Anencephaly 2 |
20 |
1741 |
c
|
DMN047 |
Diamond-Blackfan Anemia 18 |
20 |
1742 |
c
|
PRK058 |
Parkinson Disease 16 |
20 |
1743 |
c
|
HTR028 |
Heterotaxy, Visceral, 11, Autosomal, with Male Infertility |
20 |
1744 |
c
|
VSC068 |
Visceral Neuropathy, Familial, 3, Autosomal Dominant |
20 |
1745 |
c
|
NLD011 |
Nail Disorder, Nonsyndromic Congenital, 2 |
20 |
1746 |
c
|
46X050 |
46,xx Sex Reversal 3 |
19 |
1747 |
|
CMB114 |
Combined Oxidative Phosphorylation Deficiency 54 |
19 |
1748 |
c
|
KLP006 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
19 |
1749 |
|
OPH021 |
Ophthalmoplegia, External, with Rib and Vertebral Anomalies |
19 |
1750 |
c
|
TRC128 |
Trichothiodystrophy 9, Nonphotosensitive |
19 |
1751 |
|
DGN006 |
Digenic Disease |
19 |
1752 |
c
|
SYS041 |
Systemic Lupus Erythematosus 9 |
19 |
1753 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
1754 |
|
CMB090 |
Combined Oxidative Phosphorylation Deficiency 38 |
19 |
1755 |
|
MTC098 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
19 |
1756 |
c
|
CLR147 |
Ciliary Dyskinesia, Primary, 46 |
19 |
1757 |
c
|
EPL247 |
Epilepsy, Idiopathic Generalized 16 |
19 |
1758 |
|
CHR385 |
Chromosome 2q31.2 Deletion Syndrome |
19 |
1759 |
|
SLF020 |
Sulfide:quinone Oxidoreductase Deficiency |
19 |
1760 |
c
|
DYS058 |
Dystonia 15, Myoclonic |
19 |
1761 |
c
|
DVL142 |
Developmental and Epileptic Encephalopathy 107 |
19 |
1762 |
c
|
MLT120 |
Multiple Fibroadenomas of the Breast |
19 |
1763 |
c
|
MCR368 |
Microcephaly 24, Primary, Autosomal Recessive |
19 |
1764 |
|
CMP040 |
Complement Component 4, Partial Deficiency of |
19 |
1765 |
|
CMB111 |
Combined Oxidative Phosphorylation Deficiency 52 |
19 |
1766 |
c
|
INF081 |
Inflammatory Bowel Disease 22 |
19 |
1767 |
|
OKT001 |
Okt4 Epitope Deficiency |
19 |
1768 |
P
|
RDC010 |
Reducing Body Myopathy |
19 |
1769 |
c
|
SPS246 |
Spastic Paraplegia 87, Autosomal Recessive |
19 |
1770 |
c
|
LDD009 |
Liddle Syndrome 3 |
19 |
1771 |
|
ALP072 |
Alpha-Fetoprotein Deficiency |
19 |
1772 |
|
MCR369 |
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum |
19 |
1773 |
c
|
ART175 |
Arthrogryposis, Distal, Type 11 |
19 |
1774 |
c
|
MCR391 |
Microcephaly 29, Primary, Autosomal Recessive |
19 |
1775 |
c
|
CLR141 |
Ciliary Dyskinesia, Primary, 41 |
19 |
1776 |
|
NRD143 |
Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay |
19 |
1777 |
c
|
ANG076 |
Angioedema, Hereditary, 8 |
19 |
1778 |
c
|
LFT011 |
Left Ventricular Noncompaction 2 |
19 |
1779 |
c
|
TTH026 |
Tooth Agenesis, Selective, 7 |
19 |
1780 |
c
|
PRM348 |
Premature Ovarian Failure 17 |
19 |
1781 |
|
AML058 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
19 |
1782 |
|
MYP170 |
Myopathy, Congenital, Nonprogressive |
19 |
1783 |
|
GLT036 |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to |
19 |
1784 |
c
|
PLY178 |
Polydactyly, Postaxial, Type A8 |
19 |
1785 |
c
|
EPL260 |
Epilepsy, Idiopathic Generalized 18 |
19 |
1786 |
c
|
ANM079 |
Anemia, Sideroblastic, 5 |
19 |
1787 |
c
|
MRR015 |
Mirror Movements 4 |
19 |
1788 |
c
|
UNC019 |
Uncombable Hair Syndrome 2 |
19 |
1789 |
c
|
DMN050 |
Diamond-Blackfan Anemia 21 |
19 |
1790 |
|
VRT018 |
Vertebral Hypersegmentation and Orofacial Anomalies |
19 |
1791 |
c
|
OVR118 |
Ovarian Dysgenesis 6 |
18 |
1792 |
|
XLN191 |
X-Linked Hereditary Ataxia |
18 |
1793 |
c
|
DMN048 |
Diamond-Blackfan Anemia 19 |
18 |
1794 |
c
|
PRG093 |
Pregnancy Loss, Recurrent 3 |
18 |
1795 |
c
|
TTH027 |
Tooth Agenesis, Selective, 8 |
18 |
1796 |
c
|
CRN174 |
Coronary Heart Disease 2 |
18 |
1797 |
|
AML039 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
18 |
1798 |
c
|
CRY039 |
Carey-Fineman-Ziter Syndrome 2 |
18 |
1799 |
|
MTH068 |
Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect |
18 |
1800 |
c
|
NNS071 |
Nonsyndromic Congenital Nail Disorder |
18 |
1801 |
|
MTC218 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
18 |
1802 |
c
|
OCY006 |
Oocyte Maturation Defect 5 |
18 |
1803 |
|
FCL086 |
Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction |
18 |
1804 |
P
|
HYP284 |
Hypospadias 1, X-Linked |
18 |
1805 |
|
CMB106 |
Combined Oxidative Phosphorylation Deficiency 50 |
18 |
1806 |
c
|
SCK050 |
Sick Sinus Syndrome 4 |
18 |
1807 |
|
BRB005 |
Birbeck Granule Deficiency |
18 |
1808 |
|
IFP003 |
Ifap Syndrome 2 |
18 |
1809 |
c
|
KRT040 |
Keratoconus 3 |
18 |
1810 |
c
|
MTH069 |
Methylmalonic Acidemia Due to Transcobalamin Receptor Defect |
18 |
1811 |
|
STR099 |
Striatonigral Degeneration, Infantile, Mitochondrial |
18 |
1812 |
c
|
CNG385 |
Congenital Heart Defects, Multiple Types, 3 |
18 |
1813 |
c
|
SRC024 |
Sarcoidosis 3 |
18 |
1814 |
|
MYT001 |
Myotonic Cataract |
18 |
1815 |
c
|
OCY007 |
Oocyte Maturation Defect 6 |
18 |
1816 |
c
|
SPS248 |
Spastic Paraplegia 88, Autosomal Dominant |
18 |
1817 |
|
ARS003 |
Aarskog Syndrome, Autosomal Dominant |
18 |
1818 |
c
|
PLY184 |
Polydactyly, Postaxial, Type A10 |
18 |
1819 |
c
|
MCR386 |
Microcephaly 28, Primary, Autosomal Recessive |
18 |
1820 |
c
|
KRT050 |
Keratoconus 5 |
18 |
1821 |
c
|
CRN178 |
Coronary Heart Disease 6 |
18 |
1822 |
c
|
CRD263 |
Cardiac Valvular Dysplasia 2 |
18 |
1823 |
|
TRP029 |
Triphalangeal Thumb with Polysyndactyly |
18 |
1824 |
c
|
LPR017 |
Leprosy 5 |
18 |
1825 |
c
|
ATS371 |
Autism 6 |
18 |
1826 |
c
|
OVR128 |
Ovarian Dysgenesis 10 |
18 |
1827 |
|
CRN210 |
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome |
18 |
1828 |
|
ATM059 |
Autoimmune Disease 6 |
18 |
1829 |
c
|
SYS065 |
Systemic Lupus Erythematosus 11 |
18 |
1830 |
c
|
NNS073 |
Non-Syndromic X-Linked Intellectual Disability 2 |
18 |
1831 |
|
OCL077 |
Oculopharyngeal Myopathy with Leukoencephalopathy 1 |
18 |
1832 |
c
|
DPH025 |
Diaphragmatic Hernia 2 |
18 |
1833 |
c
|
HYD068 |
Hydatidiform Mole, Recurrent, 4 |
18 |
1834 |
c
|
SPS229 |
Spastic Ataxia 8 |
18 |
1835 |
c
|
TTH025 |
Tooth Agenesis, Selective, 9 |
18 |
1836 |
c
|
PRM344 |
Premature Ovarian Failure 16 |
18 |
1837 |
c
|
KRT053 |
Keratoconus 7 |
18 |
1838 |
c
|
MCR385 |
Microcephaly, Epilepsy, and Diabetes Syndrome 2 |
17 |
1839 |
|
MTC221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
17 |
1840 |
c
|
TYP037 |
Type 1 Diabetes Mellitus 13 |
17 |
1841 |
c
|
NNS019 |
Nonsyndromic Holoprosencephaly |
17 |
1842 |
|
CHR494 |
Chromosome 15q25 Deletion Syndrome |
17 |
1843 |
c
|
TLN009 |
Telangiectasia, Hereditary Hemorrhagic, Type 3 |
17 |
1844 |
c
|
ANG075 |
Angioedema, Hereditary, 7 |
17 |
1845 |
|
CRB229 |
Cerebellar Dysfunction, Impaired Intellectual Development, and Hypogonadotropic Hypogonadism |
17 |
1846 |
c
|
PRK084 |
Porokeratosis 6, Multiple Types |
17 |
1847 |
c
|
KRT052 |
Keratoconus 6 |
17 |
1848 |
c
|
SYN040 |
Synpolydactyly 3 |
17 |
1849 |
c
|
ORF031 |
Orofacial Cleft 14 |
17 |
1850 |
c
|
PLY101 |
Polydactyly, Postaxial, Type A6 |
17 |
1851 |
c
|
PRG096 |
Pregnancy Loss, Recurrent 2 |
17 |
1852 |
|
LKN031 |
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome |
17 |
1853 |
c
|
INF091 |
Inflammatory Bowel Disease 8 |
17 |
1854 |
c
|
INF084 |
Inflammatory Bowel Disease 26 |
17 |
1855 |
c
|
EPL208 |
Epilepsy, Idiopathic Generalized 8 |
17 |
1856 |
|
MTC225 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
17 |
1857 |
|
CHR503 |
Chromosome 22q13 Duplication Syndrome |
17 |
1858 |
c
|
OCY008 |
Oocyte Maturation Defect 7 |
17 |
1859 |
|
SKL035 |
Skeletal Defects, Genital Hypoplasia, and Impaired Intellectual Development |
17 |
1860 |
c
|
CNG621 |
Congenital Myasthenic Syndrome 7 |
17 |
1861 |
c
|
HYP863 |
Hyper Ige Recurrent Infection Syndrome 4 |
17 |
1862 |
c
|
PRT254 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
17 |
1863 |
c
|
SPS162 |
Spastic Ataxia 1 |
17 |
1864 |
c
|
ANM081 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
17 |
1865 |
c
|
RTN208 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
17 |
1866 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
17 |
1867 |
c
|
AML056 |
Amelogenesis Imperfecta, Type Iiib |
17 |
1868 |
|
CMP081 |
Camptosynpolydactyly, Complex |
17 |
1869 |
c
|
CRN177 |
Coronary Heart Disease 7 |
17 |
1870 |
|
SDD010 |
Sudden Cardiac Failure, Alcohol-Induced |
17 |
1871 |
c
|
DYS125 |
Dyslexia 8 |
17 |
1872 |
c
|
ERL044 |
Early-Onset Posterior Polar Cataract |
16 |
1873 |
|
MCC013 |
Mucocutaneous Ulceration, Chronic |
16 |
1874 |
c
|
CNG433 |
Congenital Cornea Plana |
16 |
1875 |
c
|
PLY182 |
Polydactyly, Postaxial, Type A9 |
16 |
1876 |
c
|
KLP012 |
Klippel-Feil Syndrome 1 |
16 |
1877 |
c
|
NNS086 |
Non-Syndromic X-Linked Intellectual Disability 91 |
16 |
1878 |
c
|
PRK022 |
Parkinson Disease 12 |
16 |
1879 |
c
|
UNC018 |
Uncombable Hair Syndrome 3 |
16 |
1880 |
c
|
OCY013 |
Oocyte Maturation Defect 12 |
16 |
1881 |
|
EXR006 |
Exercise Intolerance, Riboflavin-Responsive |
16 |
1882 |
|
FRG019 |
Ferguson-Bonni Neurodevelopmental Syndrome |
16 |
1883 |
|
CMB102 |
Combined Oxidative Phosphorylation Deficiency 46 |
16 |
1884 |
c
|
OCY010 |
Oocyte Maturation Defect 9 |
16 |
1885 |
c
|
OCY009 |
Oocyte Maturation Defect 8 |
16 |
1886 |
|
TRN072 |
Transferrin Serum Level Quantitative Trait Locus 2 |
16 |
1887 |
|
CMB105 |
Combined Oxidative Phosphorylation Deficiency 49 |
16 |
1888 |
c
|
ATS170 |
Autism 19 |
16 |
1889 |
c
|
CTC003 |
Catecholaminergic Polymorphic Ventricular Tachycardia 5 |
16 |
1890 |
c
|
HYP270 |
Hypospadias 2, X-Linked |
16 |
1891 |
c
|
PRT113 |
Parietal Foramina 3 |
16 |
1892 |
c
|
EPL090 |
Epilepsy, Idiopathic Generalized 5 |
16 |
1893 |
c
|
ATS372 |
Autism 7 |
16 |
1894 |
c
|
NLD013 |
Nail Disorder, Nonsyndromic Congenital, 5 |
16 |
1895 |
|
THY115 |
Thyroxine-Binding Globulin Quantitative Trait Locus |
16 |
1896 |
c
|
NLD010 |
Nail Disorder, Nonsyndromic Congenital, 6 |
16 |
1897 |
P
|
BRD055 |
Braddock-Carey Syndrome 1 |
16 |
1898 |
|
URD003 |
Uridine-Cytidineuria |
16 |
1899 |
c
|
CRN172 |
Coronary Heart Disease 3 |
16 |
1900 |
|
CHR365 |
Chromosome 2q31.1 Duplication Syndrome |
15 |
1901 |
c
|
ATS374 |
Autism 12 |
15 |
1902 |
c
|
MRR012 |
Mirror Movements 3 |
15 |
1903 |
c
|
HYP551 |
Hypotrichosis 9 |
15 |
1904 |
c
|
KRT054 |
Keratoconus 8 |
15 |
1905 |
c
|
KRT039 |
Keratoconus 2 |
15 |
1906 |
|
DYS218 |
Dystonia, Early-Onset, and/or Spastic Paraplegia |
15 |
1907 |
c
|
HYP544 |
Hypotrichosis 10 |
15 |
1908 |
c
|
ORF029 |
Orofacial Cleft 13 |
15 |
1909 |
c
|
OCY011 |
Oocyte Maturation Defect 10 |
15 |
1910 |
c
|
LPR016 |
Leprosy 4 |
15 |
1911 |
c
|
AML063 |
Amelogenesis Imperfecta Type 2a1 |
15 |
1912 |
c
|
ATS171 |
Autism 9 |
15 |
1913 |
c
|
ATS172 |
Autism 10 |
15 |
1914 |
|
SPN406 |
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies |
15 |
1915 |
c
|
ADL100 |
Adult-Onset Severe Asthma |
15 |
1916 |
|
MTC149 |
Mitochondrial Complex I Deficiency, Mitochondrial Type 1 |
15 |
1917 |
c
|
BCT019 |
Bacteremia 1 |
15 |
1918 |
c
|
KLP015 |
Klippel-Feil Syndrome 4 |
15 |
1919 |
|
RHZ017 |
Rhizomelic Dysplasia, Ain-Naz Type |
15 |
1920 |
c
|
INF136 |
Influenza, Severe |
14 |
1921 |
|
HYP668 |
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
14 |
1922 |
c
|
AST057 |
Asthma-Related Traits 5 |
14 |
1923 |
c
|
ATS373 |
Autism 11 |
14 |
1924 |
c
|
MTH084 |
Methemoglobinemia, Alpha Type |
14 |
1925 |
c
|
ACQ036 |
Acquired Angioedema Type 2 |
14 |
1926 |
c
|
ATS375 |
Autism 13 |
14 |
1927 |
c
|
CRN175 |
Coronary Heart Disease 4 |
14 |
1928 |
P
|
TRS005 |
Torsion Dystonia with Onset in Infancy |
14 |
1929 |
c
|
MCR284 |
Microcephaly and Chorioretinopathy 3 |
14 |
1930 |
c
|
GLL043 |
Galloway-Mowat Syndrome 2 |
14 |
1931 |
c
|
BRD056 |
Braddock-Carey Syndrome 2 |
14 |
1932 |
c
|
ATT025 |
Attention Deficit-Hyperactivity Disorder 8 |
14 |
1933 |
|
INC030 |
Increased Analgesia from Kappa-Opioid Receptor Agonist, Female-Specific |
14 |
1934 |
c
|
ART171 |
Arthrogryposis Multiplex Congenita-3 |
14 |
1935 |
c
|
PRK095 |
Porokeratosis 4, Disseminated Superficial Actinic Type |
14 |
1936 |
c
|
OCY012 |
Oocyte Maturation Defect 11 |
14 |
1937 |
P
|
FRS017 |
Fraser-Like Syndrome |
14 |
1938 |
c
|
CRN173 |
Coronary Heart Disease 8 |
14 |
1939 |
c
|
URC015 |
Uric Acid Concentration, Serum, Quantitative Trait Locus 4 |
14 |
1940 |
c
|
ATM056 |
Autoimmune Thyroid Disease 1 |
14 |
1941 |
P
|
CLD004 |
Cold-Induced Sweating Syndrome Including Crisponi Syndrome |
14 |
1942 |
c
|
ORF020 |
Orofacial Cleft 12 |
14 |
1943 |
c
|
HTR012 |
Heterotaxy, Visceral, 3, Autosomal |
14 |
1944 |
c
|
NNS085 |
Non-Syndromic X-Linked Intellectual Disability 90 |
13 |
1945 |
c
|
NNS076 |
Non-Syndromic X-Linked Intellectual Disability 58 |
13 |
1946 |
c
|
KRT041 |
Keratoconus 4 |
13 |
1947 |
c
|
RRC022 |
Rare Chromosomal Anomaly |
13 |
1948 |
c
|
NNS094 |
Non-Syndromic X-Linked Intellectual Disability 72 |
13 |
1949 |
c
|
CRN176 |
Coronary Heart Disease 9 |
13 |
1950 |
c
|
DVL148 |
Developmental and Epileptic Encephalopathy 108 |
13 |
1951 |
c
|
ART170 |
Arthrogryposis Multiplex Congenita-1 |
13 |
1952 |
c
|
MCR185 |
Macrodactyly of Toes |
13 |
1953 |
c
|
NNP008 |
Nanophthalmos 3 |
13 |
1954 |
c
|
HYD042 |
Hydrocephalus, Autosomal Dominant |
13 |
1955 |
|
EPL262 |
Epilepsy, X-Linked 2, with or Without Impaired Intellectual Development and Dysmorphic Features |
13 |
1956 |
c
|
ORF024 |
Orofacial Cleft 9 |
13 |
1957 |
c
|
TTH011 |
Tooth Agenesis, Selective, 2 |
13 |
1958 |
c
|
PRK097 |
Porokeratosis 5, Disseminated Superficial Actinic Type |
13 |
1959 |
c
|
SYN050 |
Syndactyly Type 6 |
13 |
1960 |
|
GLC077 |
Glucocorticoid Therapy, Response to |
13 |
1961 |
c
|
AML067 |
Amelogenesis Imperfecta, Type Ik |
13 |
1962 |
c
|
DWL005 |
Dowling-Degos Disease 3 |
13 |
1963 |
|
PLS035 |
Plasma Triglyceride Level Quantitative Trait Locus |
13 |
1964 |
|
HRD193 |
Hereditary Alpha Tryptasemia Syndrome |
13 |
1965 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
13 |
1966 |
c
|
DYS122 |
Dyslexia 3 |
13 |
1967 |
|
GLY102 |
Glycerol Quantitative Trait Locus |
13 |
1968 |
P
|
HGH038 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 |
13 |
1969 |
c
|
INT382 |
Intermediate Atrioventricular Septal Defect |
12 |
1970 |
c
|
VPS003 |
Vps35-Related Parkinson Disease |
12 |
1971 |
c
|
CNG253 |
Congenital Communicating Hydrocephalus |
12 |
1972 |
P
|
FST017 |
Fasting Plasma Glucose Level Quantitative Trait Locus 5 |
12 |
1973 |
c
|
THY119 |
Thyrotoxic Periodic Paralysis 3 |
12 |
1974 |
c
|
MYM005 |
Moyamoya Disease 3 |
12 |
1975 |
c
|
ATM057 |
Autoimmune Thyroid Disease 2 |
12 |
1976 |
c
|
ART172 |
Arthrogryposis Multiplex Congenita-4 |
12 |
1977 |
c
|
VNB003 |
Van Buchem Disease Type 2 |
12 |
1978 |
c
|
FST012 |
Fasting Plasma Glucose Level Quantitative Trait Locus 1 |
11 |
1979 |
c
|
EPB003 |
Epb42-Related Hereditary Spherocytosis |
11 |
1980 |
c
|
GRN068 |
Grin2d-Related Developmental and Epileptic Encephalopathy |
11 |
1981 |
c
|
TTH017 |
Tooth Agenesis, Selective, 5 |
11 |
1982 |
|
BTG003 |
Beta-Glucopyranoside Tasting |
11 |
1983 |
|
C3H001 |
C3hex, Ability to Smell |
11 |
1984 |
P
|
LWD006 |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 |
11 |
1985 |
P
|
HYP772 |
Hypermetabolism Due to Defect in Mitochondria |
11 |
1986 |
c
|
NNS081 |
Non-Syndromic X-Linked Intellectual Disability 81 |
11 |
1987 |
c
|
GLM038 |
Glioma Susceptibility 7 |
11 |
1988 |
c
|
BNG034 |
Benign Secondary Hypertension |
11 |
1989 |
c
|
DYS124 |
Dyslexia 6 |
11 |
1990 |
c
|
HGH039 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12 |
11 |
1991 |
c
|
HRM022 |
Hair Morphology 1 |
11 |
1992 |
|
LTH044 |
Lutheran Null |
11 |
1993 |
c
|
KLP013 |
Klippel-Feil Syndrome 3 |
11 |
1994 |
c
|
DVL151 |
Developmental and Epileptic Encephalopathy 110 |
11 |
1995 |
c
|
HYP447 |
Hypertension, Essential 1 |
11 |
1996 |
c
|
DYS225 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
11 |
1997 |
|
CHR384 |
Chromosome 2p12-P11.2 Deletion Syndrome |
11 |
1998 |
c
|
HYP452 |
Hypertension, Essential 6 |
11 |
1999 |
c
|
HYP449 |
Hypertension, Essential 3 |
11 |
2000 |
c
|
LWD007 |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 |
11 |
2001 |
c
|
ATM058 |
Autoimmune Thyroid Disease 4 |
11 |
2002 |
c
|
DYS222 |
Dystonia 35, Childhood-Onset |
11 |
2003 |
c
|
PRC032 |
Preeclampsia/eclampsia 2 |
11 |
2004 |
c
|
HYP869 |
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor |
10 |
2005 |
|
CRN326 |
Corneal Dystrophy, Punctiform and Polychromatic Pre-Descemet |
10 |
2006 |
|
RCM006 |
Recombination Rate Quantitative Trait Locus 1 |
10 |
2007 |
c
|
DYS123 |
Dyslexia 5 |
10 |
2008 |
c
|
DVL150 |
Developmental and Epileptic Encephalopathy 109 |
10 |
2009 |
c
|
FNC067 |
Fanconi Renotubular Syndrome 4 |
10 |
2010 |
c
|
ATS423 |
Autosomal Dominant Wolfram Syndrome |
10 |
2011 |
c
|
HYP448 |
Hypertension, Essential 2 |
10 |
2012 |
c
|
HYP450 |
Hypertension, Essential 4 |
10 |
2013 |
|
FCS013 |
Fucosyltransferase 6 Deficiency |
10 |
2014 |
c
|
PRC033 |
Preeclampsia/eclampsia 3 |
10 |
2015 |
|
ECL002 |
Eculizumab, Poor Response to |
10 |
2016 |
|
SDM005 |
Sodium Serum Level Quantitative Trait Locus 1 |
10 |
2017 |
c
|
DYS126 |
Dyslexia 9 |
10 |
2018 |
|
MMR005 |
Memory Quantitative Trait Locus |
10 |
2019 |
c
|
RRN022 |
Rare Inflammatory Bowel Disease |
10 |
2020 |
c
|
MSC205 |
Mosaic Variegated Aneuploidy Syndrome 4 |
10 |
2021 |
c
|
NNS074 |
Non-Syndromic X-Linked Intellectual Disability 19 |
9 |
2022 |
c
|
HYP451 |
Hypertension, Essential 5 |
9 |
2023 |
P
|
HRN027 |
Hernia, Anterior Diaphragmatic |
9 |
2024 |
c
|
RRD039 |
Rare Dystonia |
9 |
2025 |
c
|
ISC021 |
Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome |
9 |
2026 |
c
|
HGH033 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1 |
9 |
2027 |
c
|
HYP454 |
Hypertension, Essential 8 |
9 |
2028 |
c
|
HYP453 |
Hypertension, Essential 7 |
9 |
2029 |
c
|
ATS437 |
Autosomal Dominant Spastic Ataxia |
9 |
2030 |
P
|
MCR048 |
Microcephaly Chorioretinopathy Recessive Form |
9 |
2031 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
2032 |
c
|
FST013 |
Fasting Plasma Glucose Level Quantitative Trait Locus 2 |
9 |
2033 |
|
SLB002 |
Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus |
8 |
2034 |
|
INT325 |
Interleukin 6, Serum Level of, Quantitative Trait Locus |
8 |
2035 |
c
|
ACQ035 |
Acquired Angioedema Type 1 |
8 |
2036 |
c
|
LWD008 |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 |
8 |
2037 |
P
|
RRT025 |
Rare Thyroid Disease |
8 |
2038 |
|
ASP035 |
Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 |
8 |
2039 |
c
|
FST015 |
Fasting Plasma Glucose Level Quantitative Trait Locus 6 |
8 |
2040 |
c
|
HGH035 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3 |
8 |
2041 |
|
MYP171 |
Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or Without Episodic Rhabdomyolysis |
8 |
2042 |
P
|
ATS499 |
Autosomal Dominant Familial Visceral Neuropathy |
8 |
2043 |
|
IMP012 |
Impdh2 Enzyme Activity, Variation in |
8 |
2044 |
c
|
HYP894 |
Hypermetabolism Due to Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
8 |
2045 |
|
MTC238 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
8 |
2046 |
c
|
FST014 |
Fasting Plasma Glucose Level Quantitative Trait Locus 3 |
8 |
2047 |
c
|
HGH032 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 |
7 |
2048 |
c
|
HYP653 |
Hypospadias 4, X-Linked |
7 |
2049 |
c
|
ADP009 |
Adiponectin, Serum Level of, Quantitative Trait Locus 3 |
7 |
2050 |
c
|
ADP008 |
Adiponectin, Serum Level of, Quantitative Trait Locus 2 |
7 |
2051 |
c
|
CRN299 |
Craniosynostosis Syndrome, Autosomal Recessive |
7 |
2052 |
c
|
FST016 |
Fasting Plasma Glucose Level Quantitative Trait Locus 4 |
7 |
2053 |
c
|
LSS018 |
Lissencephaly with Cerebellar Hypoplasia Type F |
7 |
2054 |
c
|
LSS019 |
Lissencephaly with Cerebellar Hypoplasia Type E |
7 |
2055 |
c
|
LSS021 |
Lissencephaly with Cerebellar Hypoplasia Type a |
7 |
2056 |
c
|
RRD010 |
Rare Disease with Autism |
7 |
2057 |
c
|
HGH042 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 |
7 |
2058 |
c
|
ADP011 |
Adiponectin, Serum Level of, Quantitative Trait Locus 4 |
7 |
2059 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
2060 |
c
|
ATS003 |
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome |
6 |
2061 |
|
MTC239 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
6 |
2062 |
c
|
ADP012 |
Adiponectin, Serum Level of, Quantitative Trait Locus 5 |
6 |
2063 |
|
CMB116 |
Combined Oxidative Phosphorylation Deficiency 56 |
6 |
2064 |
c
|
HYP861 |
Hyper Ige Recurrent Infection Syndrome 2 |
6 |
2065 |
c
|
AGM030 |
Agammaglobulinemia 8a |
6 |
2066 |
c
|
NNS079 |
Non-Syndromic X-Linked Intellectual Disability 84 |
6 |
2067 |
c
|
LSS023 |
Lissencephaly with Cerebellar Hypoplasia Type C |
6 |
2068 |
c
|
ACQ064 |
Acquired Premature Ovarian Failure |
6 |
2069 |
c
|
LSS022 |
Lissencephaly with Cerebellar Hypoplasia Type D |
6 |
2070 |
c
|
NNS091 |
Non-Syndromic X-Linked Intellectual Disability 88 |
6 |
2071 |
c
|
LSS020 |
Lissencephaly with Cerebellar Hypoplasia Type B |
6 |
2072 |
c
|
PRX100 |
Proximal Symphalangism 2 |
6 |
2073 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
6 |
2074 |
c
|
URC017 |
Uric Acid Concentration, Serum, Quantitative Trait Locus 6 |
6 |
2075 |
c
|
URC016 |
Uric Acid Concentration, Serum, Quantitative Trait Locus 5 |
6 |
2076 |
c
|
HGH036 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 4 |
6 |
2077 |
c
|
TRM030 |
Trim22-Related Inflammatory Bowel Disease |
5 |
2078 |
c
|
SPS172 |
Spastic Ataxia 7 |
5 |
2079 |
c
|
PRX099 |
Proximal Symphalangism 1 |
5 |
2080 |
c
|
HGH034 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2 |
5 |
2081 |
c
|
HGH037 |
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 5 |
5 |
2082 |
c
|
ATS407 |
Autosomal Dominant Sideroblastic Anemia 4 |
5 |
2083 |
|
MTH002 |
Methylmalonic Aciduria and Homocystinuria Type Cblg |
4 |
2084 |
c
|
RDC017 |
Reducing Body Myopathy 1a |
4 |
2085 |
c
|
RDC018 |
Reducing Body Myopathy 1b |
4 |
2086 |
c
|
ALP111 |
Alpi-Related Inflammatory Bowel Disease |
4 |
2087 |
c
|
XND001 |
X and Y Chromosomal Anomaly |
4 |
2088 |
c
|
CRN093 |
Craniosynostosis Autosomal Dominant |
4 |
2089 |
|
CHR705 |
Chromosome 16p12.1 Deletion Syndrome |
4 |
2090 |
c
|
CLR027 |
Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules |
3 |
2091 |
c
|
HYD017 |
Hydrocephalus Autosomal Recessive |
3 |
2092 |
c
|
MCR059 |
Microcephaly with Chorioretinopathy, Autosomal Dominant Form |
3 |
2093 |
|
ATS478 |
Autosomal Recessive Congenital Bilateral Absence of Vas Deferens |
3 |
2094 |
|
ADN058 |
Adenylosuccinase Lyase Deficiency |
3 |
2095 |
|
RHZ020 |
Rhizomelic Chondrodysplasia Punctate Type 4 |
2 |
2096 |
|
INT304 |
Interstitial Pneumonitis, Desquamative, Familial |
45 |
2097 |
|
OST150 |
Osteodysplasia, Familial, Anderson Type |
19 |
2098 |
|
DYS182 |
Dysphasia, Familial Developmental |
38 |
2099 |
P
|
PGT001 |
Paget's Disease of Bone |
59 |
2100 |
|
SCH072 |
Scheuermann Disease |
45 |
2101 |
c
|
AVS006 |
Avascular Necrosis of Femoral Head, Primary, 1 |
45 |
2102 |
c
|
EXD010 |
Exudative Vitreoretinopathy 6 |
29 |
2103 |
|
FML211 |
Familial Papillary or Follicular Thyroid Carcinoma |
27 |
2104 |
P
|
FML048 |
Familial Avascular Necrosis of the Femoral Head |
26 |
2105 |
c
|
EXD007 |
Exudative Vitreoretinopathy 3 |
25 |
2106 |
c
|
AVS005 |
Avascular Necrosis of Femoral Head, Primary, 2 |
19 |
2107 |
|
ADR047 |
Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone |
16 |
2108 |
P
|
OVR042 |
Ovarian Cancer |
89 |
2109 |
|
ATY005 |
Atypical Teratoid Rhabdoid Tumor |
66 |
2110 |
c
|
OVR114 |
Ovarian Cancer 1 |
65 |
2111 |
|
FML063 |
Familial Glucocorticoid Deficiency |
57 |
2112 |
c
|
FML353 |
Familial Ovarian Cancer |
40 |
2113 |
|
THM023 |
Thiemann Disease |
24 |
2114 |
c
|
CRD057 |
Cardiomyopathy, Familial Restrictive, 2 |
20 |
2115 |
|
RNX001 |
Runx1 Familial Platelet Disorder with Associated Myeloid Malignancies |
15 |
2116 |
|
DSM004 |
Desmoid Tumor |
67 |
2117 |
c
|
CRD152 |
Cardiomyopathy, Familial Hypertrophic, 21 |
18 |
2118 |
|
ANR042 |
Aniridia - Ptosis - Intellectual Disability - Familial Obesity |
16 |
2119 |
|
THR043 |
Thrombomodulin Anomalies, Familial |
8 |
2120 |
P
|
MLN008 |
Melanoma |
74 |
2121 |
|
VLV047 |
Volvulus of Midgut |
59 |
2122 |
P
|
MLT074 |
Multiple Endocrine Neoplasia |
57 |
2123 |
|
HRT015 |
Heritable Pulmonary Arterial Hypertension |
45 |
2124 |
P
|
PLN008 |
Peeling Skin Syndrome |
43 |
2125 |
c
|
HRD223 |
Hereditary Melanoma |
37 |
2126 |
|
FML304 |
Familial Isolated Dilated Cardiomyopathy |
35 |
2127 |
|
HYP529 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
17 |
2128 |
P
|
KDN018 |
Kidney Disease |
75 |
2129 |
c
|
CHR684 |
Chronic Kidney Disease |
74 |
2130 |
c
|
ACT071 |
Acute Kidney Failure |
61 |
2131 |
|
PMP006 |
Pemphigus Vulgaris, Familial |
59 |
2132 |
|
IGG007 |
Igg4-Related Disease |
50 |
2133 |
|
GST095 |
Gastritis, Familial Giant Hypertrophic |
45 |
2134 |
P
|
RNL015 |
Renal Hypertension |
43 |
2135 |
|
GNT179 |
Genetic Steroid-Resistant Nephrotic Syndrome |
41 |
2136 |
P
|
BLN001 |
Blount's Disease |
38 |
2137 |
c
|
RNL113 |
Renal Failure, Progressive, with Hypertension |
32 |
2138 |
|
NCH001 |
Nuchal Bleb, Familial |
31 |
2139 |
|
FML293 |
Familial Isolated Restrictive Cardiomyopathy |
28 |
2140 |
|
BLD065 |
Blue Diaper Syndrome |
24 |
2141 |
c
|
RNL016 |
Renal Infectious Disease |
21 |
2142 |
|
CHR673 |
Chromosome 14q32 Duplication Syndrome, 700-Kb |
19 |
2143 |
|
APM002 |
Aapoai Amyloidosis |
18 |
2144 |
|
MCR337 |
Microtia with Meatal Atresia and Conductive Deafness |
17 |
2145 |
|
APM001 |
Aapoaii Amyloidosis |
17 |
2146 |
c
|
BLN020 |
Blount Disease, Infantile |
17 |
2147 |
|
HYP692 |
Hypersensitivity Pneumonitis, Familial |
15 |
2148 |
c
|
RNR002 |
Ren-Related Kidney Disease |
7 |
2149 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
65 |
2150 |
P
|
DST002 |
Distal Arthrogryposis |
61 |
2151 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
60 |
2152 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
53 |
2153 |
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
48 |
2154 |
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
43 |
2155 |
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
37 |
2156 |
c
|
ART168 |
Arthrogryposis, Distal, Type 1c |
35 |
2157 |
|
ACT164 |
Actinic Prurigo |
28 |
2158 |
c
|
ART128 |
Arthrogryposis, Distal, Type 6 |
27 |
2159 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
27 |
2160 |
|
FBR088 |
Fibromatosis, Gingival, with Progressive Deafness |
25 |
2161 |
c
|
ART054 |
Arthrogryposis, Distal, Type 2e |
18 |
2162 |
|
PRL009 |
Prolactinoma |
63 |
2163 |
P
|
HRD021 |
Hereditary Sensory Neuropathy |
54 |
2164 |
c
|
NRP041 |
Neuropathy, Hereditary Sensory, Type Ie |
54 |
2165 |
P
|
RST002 |
Restrictive Cardiomyopathy |
53 |
2166 |
|
FLT011 |
Felty Syndrome |
53 |
2167 |
c
|
NRP029 |
Neuropathy, Hereditary Sensory, Type Iic |
42 |
2168 |
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
41 |
2169 |
|
CHR525 |
Chromosome Xq26.3 Duplication Syndrome |
36 |
2170 |
|
FML292 |
Familial Drusen |
33 |
2171 |
c
|
NRP036 |
Neuropathy, Hereditary Sensory, Type if |
29 |
2172 |
c
|
PRS117 |
Prostate Cancer, Hereditary, 11 |
24 |
2173 |
P
|
PRM145 |
Primary Anetoderma |
17 |
2174 |
|
ZRS001 |
Zori Stalker Williams Syndrome |
17 |
2175 |
P
|
PRM375 |
Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis |
16 |
2176 |
|
STR032 |
Steroid Dehydrogenase Deficiency Dental Anomalies |
16 |
2177 |
c
|
FML327 |
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis |
15 |
2178 |
c
|
SPT021 |
Sptlc1-Related Hereditary Sensory Neuropathy |
15 |
2179 |
c
|
FML205 |
Familial Anetoderma |
14 |
2180 |
P
|
FML354 |
Familial Nonmedullary Thyroid Carcinoma |
14 |
2181 |
|
ADL092 |
Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome |
4 |
2182 |
c
|
THR092 |
Thrombophilia Due to Thrombin Defect |
76 |
2183 |
P
|
HYP061 |
Hypertrophic Cardiomyopathy |
69 |
2184 |
|
PRM236 |
Primary Biliary Cholangitis |
62 |
2185 |
c
|
HYD046 |
Hydatidiform Mole, Recurrent, 1 |
60 |
2186 |
|
BNG009 |
Benign Epilepsy with Centrotemporal Spikes |
59 |
2187 |
|
CLL010 |
Cellular Ependymoma |
59 |
2188 |
P
|
HMP002 |
Hemophagocytic Lymphohistiocytosis |
59 |
2189 |
c
|
THR082 |
Thrombophilia Due to Activated Protein C Resistance |
59 |
2190 |
P
|
ERY008 |
Erythromelalgia |
58 |
2191 |
P
|
ISL078 |
Isolated Ectopia Lentis |
58 |
2192 |
|
MCL027 |
Macular Dystrophy, Dominant Cystoid |
56 |
2193 |
P
|
ALL008 |
Allergic Bronchopulmonary Aspergillosis |
55 |
2194 |
P
|
DRM007 |
Dermatitis Herpetiformis |
55 |
2195 |
P
|
DST107 |
Distal Renal Tubular Acidosis |
55 |
2196 |
|
DNB001 |
Danubian Endemic Familial Nephropathy |
53 |
2197 |
P
|
PRV002 |
Periventricular Nodular Heterotopia |
52 |
2198 |
P
|
THR015 |
Thrombophilia |
52 |
2199 |
|
DDN011 |
Duodenal Atresia |
51 |
2200 |
|
ARC002 |
Arachnoiditis |
51 |
2201 |
|
CMB062 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
51 |
2202 |
c
|
DFN097 |
Deafness, Autosomal Recessive 1a |
51 |
2203 |
c
|
JVN041 |
Juvenile Nephronophthisis |
49 |
2204 |
c
|
DFN250 |
Deafness, Autosomal Recessive 2 |
48 |
2205 |
c
|
DFN133 |
Deafness, Autosomal Recessive 9 |
48 |
2206 |
c
|
DFN141 |
Deafness, Autosomal Recessive 12 |
47 |
2207 |
c
|
DFN136 |
Deafness, Autosomal Dominant 9 |
46 |
2208 |
c
|
DFN251 |
Deafness, Autosomal Dominant 11 |
46 |
2209 |
c
|
DFN196 |
Deafness, Autosomal Dominant 22 |
45 |
2210 |
c
|
DFN200 |
Deafness, Autosomal Dominant 17 |
44 |
2211 |
P
|
DPY001 |
Dupuytren Contracture |
44 |
2212 |
c
|
DFN197 |
Deafness, Autosomal Recessive 37 |
43 |
2213 |
c
|
DFN247 |
Deafness, Autosomal Recessive 18a |
42 |
2214 |
c
|
DFN128 |
Deafness, Autosomal Dominant 36 |
42 |
2215 |
c
|
DFN093 |
Deafness, Autosomal Recessive 23 |
42 |
2216 |
c
|
DFN189 |
Deafness, Autosomal Dominant 25 |
42 |
2217 |
c
|
DFN103 |
Deafness, Autosomal Recessive 1b |
41 |
2218 |
c
|
DFN139 |
Deafness, Autosomal Recessive 29 |
41 |
2219 |
c
|
DFN203 |
Deafness, Autosomal Recessive 30 |
41 |
2220 |
c
|
DFN112 |
Deafness, Autosomal Recessive 63 |
41 |
2221 |
c
|
DFN107 |
Deafness, Autosomal Dominant 10 |
40 |
2222 |
c
|
DFN143 |
Deafness, Autosomal Recessive 16 |
39 |
2223 |
c
|
DFN130 |
Deafness, Autosomal Recessive 21 |
39 |
2224 |
c
|
DFN352 |
Deafness, Autosomal Recessive 8 |
39 |
2225 |
c
|
DFN092 |
Deafness, Autosomal Recessive 49 |
39 |
2226 |
c
|
DFN267 |
Deafness, Autosomal Dominant 4a |
39 |
2227 |
c
|
DFN252 |
Deafness, Autosomal Recessive 24 |
39 |
2228 |
|
WST002 |
Western Equine Encephalitis |
39 |
2229 |
c
|
DFN098 |
Deafness, Autosomal Dominant 3a |
39 |
2230 |
c
|
DFN353 |
Deafness, Autosomal Dominant 12 |
39 |
2231 |
c
|
DFN170 |
Deafness, Autosomal Recessive 31 |
38 |
2232 |
c
|
DFN127 |
Deafness, Autosomal Recessive 7 |
38 |
2233 |
c
|
DFN124 |
Deafness, Autosomal Recessive 6 |
38 |
2234 |
c
|
DFN262 |
Deafness, Autosomal Recessive 15 |
38 |
2235 |
c
|
DFN351 |
Deafness, Autosomal Dominant 6 |
38 |
2236 |
c
|
DFN201 |
Deafness, Autosomal Recessive 3 |
38 |
2237 |
c
|
DFN102 |
Deafness, Autosomal Dominant 3b |
38 |
2238 |
|
JJN004 |
Jejunal Atresia |
38 |
2239 |
c
|
DFN114 |
Deafness, Autosomal Recessive 67 |
38 |
2240 |
c
|
DFN190 |
Deafness, Autosomal Dominant 2a |
38 |
2241 |
c
|
DFN108 |
Deafness, Autosomal Recessive 77 |
38 |
2242 |
c
|
DFN111 |
Deafness, Autosomal Recessive 35 |
38 |
2243 |
c
|
DFN117 |
Deafness, Autosomal Dominant 15 |
37 |
2244 |
c
|
DFN181 |
Deafness, Autosomal Recessive 66 |
37 |
2245 |
c
|
DFN278 |
Deafness, Autosomal Dominant 65 |
37 |
2246 |
c
|
ATS006 |
Autosomal Recessive Nonsyndromic Deafness |
37 |
2247 |
c
|
RNL125 |
Renal Tubular Acidosis, Distal, 1 |
37 |
2248 |
c
|
DFN259 |
Deafness, Autosomal Recessive 86 |
37 |
2249 |
P
|
ATR081 |
Atrial Standstill |
37 |
2250 |
c
|
DFN274 |
Deafness, Autosomal Dominant 56 |
36 |
2251 |
c
|
DFN244 |
Deafness, Autosomal Recessive 42 |
36 |
2252 |
c
|
DFN202 |
Deafness, Autosomal Dominant 48 |
36 |
2253 |
c
|
DFN364 |
Deafness, Autosomal Recessive 57 |
36 |
2254 |
c
|
DFN159 |
Deafness, Autosomal Dominant 5 |
36 |
2255 |
c
|
DFN269 |
Deafness, Autosomal Recessive 98 |
36 |
2256 |
c
|
DFN095 |
Deafness, Autosomal Recessive 25 |
35 |
2257 |
c
|
DFN123 |
Deafness, Autosomal Recessive 79 |
35 |
2258 |
c
|
DFN354 |
Deafness, Autosomal Dominant 20 |
35 |
2259 |
c
|
DFN155 |
Deafness, Autosomal Dominant 41 |
34 |
2260 |
c
|
DFN360 |
Deafness, Autosomal Dominant 69 |
34 |
2261 |
c
|
DFN277 |
Deafness, Autosomal Recessive 102 |
33 |
2262 |
c
|
DFN266 |
Deafness, Autosomal Dominant 4b |
33 |
2263 |
c
|
DFN120 |
Deafness, Autosomal Recessive 39 |
33 |
2264 |
c
|
DFN249 |
Deafness, Autosomal Recessive 93 |
33 |
2265 |
c
|
DFN132 |
Deafness, Autosomal Recessive 22 |
33 |
2266 |
c
|
DFN137 |
Deafness, Autosomal Dominant 13 |
33 |
2267 |
c
|
DFN280 |
Deafness, Autosomal Recessive |
33 |
2268 |
c
|
DFN253 |
Deafness, Autosomal Recessive 84a |
33 |
2269 |
c
|
DFN260 |
Deafness, Autosomal Recessive 89 |
33 |
2270 |
c
|
DFN375 |
Deafness, Autosomal Recessive 94 |
32 |
2271 |
c
|
DFN121 |
Deafness, Autosomal Recessive 28 |
32 |
2272 |
c
|
FML311 |
Familial Colorectal Cancer Type X |
32 |
2273 |
c
|
DFN330 |
Deafness, Autosomal Recessive 97 |
32 |
2274 |
c
|
DFN248 |
Deafness, Autosomal Recessive 18b |
32 |
2275 |
c
|
DFN188 |
Deafness, Autosomal Recessive 61 |
32 |
2276 |
c
|
DFN178 |
Deafness, Autosomal Recessive 59 |
31 |
2277 |
c
|
DFN367 |
Deafness, Autosomal Recessive 110 |
31 |
2278 |
c
|
DFN284 |
Deafness, Autosomal Dominant 67 |
31 |
2279 |
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
31 |
2280 |
c
|
DFN255 |
Deafness, Autosomal Dominant 64 |
31 |
2281 |
c
|
ATS336 |
Autosomal Recessive Nonsyndromic Deafness 3 |
31 |
2282 |
|
IDP092 |
Idiopathic/heritable Pulmonary Arterial Hypertension |
31 |
2283 |
c
|
DFN254 |
Deafness, Autosomal Recessive 84b |
31 |
2284 |
c
|
DFN094 |
Deafness, Autosomal Dominant 28 |
31 |
2285 |
c
|
DFN327 |
Deafness, Autosomal Dominant 70 |
30 |
2286 |
c
|
DFN265 |
Deafness, Autosomal Recessive 76 |
30 |
2287 |
|
PRR031 |
Pruritic Urticarial Papules and Plaques of Pregnancy |
30 |
2288 |
c
|
DFN283 |
Deafness, Autosomal Recessive 104 |
30 |
2289 |
c
|
DFN135 |
Deafness, Autosomal Recessive 91 |
30 |
2290 |
c
|
DFN281 |
Deafness, Autosomal Recessive 103 |
30 |
2291 |
c
|
DFN148 |
Deafness, Autosomal Dominant 16 |
29 |
2292 |
c
|
DFN150 |
Deafness, Autosomal Dominant 21 |
29 |
2293 |
c
|
DFN192 |
Deafness, Autosomal Dominant 23 |
29 |
2294 |
|
ACR034 |
Acrogeria, Gottron Type |
29 |
2295 |
c
|
DFN099 |
Deafness, Autosomal Dominant 2b |
29 |
2296 |
c
|
DFN118 |
Deafness, Autosomal Dominant 44 |
29 |
2297 |
c
|
DFN336 |
Deafness, Autosomal Dominant 68 |
29 |
2298 |
c
|
DFN183 |
Deafness, Autosomal Recessive 83 |
29 |
2299 |
c
|
DFN374 |
Deafness, Autosomal Recessive 100 |
29 |
2300 |
c
|
DFN119 |
Deafness, Autosomal Dominant 50 |
29 |
2301 |
c
|
DFN273 |
Deafness, Autosomal Recessive 101 |
28 |
2302 |
c
|
DFN116 |
Deafness, Autosomal Recessive 74 |
27 |
2303 |
c
|
ATS005 |
Autosomal Dominant Nonsyndromic Deafness |
27 |
2304 |
c
|
ATS380 |
Autosomal Recessive Nonsyndromic Deafness 36 |
27 |
2305 |
c
|
DFN246 |
Deafness, Autosomal Dominant 51 |
27 |
2306 |
|
WLL032 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears |
27 |
2307 |
c
|
ATS409 |
Autosomal Recessive Nonsyndromic Deafness 32 |
27 |
2308 |
|
PGM010 |
Pigmented Purpuric Eruption |
27 |
2309 |
c
|
DFN369 |
Deafness, Autosomal Recessive 111 |
26 |
2310 |
c
|
DFN365 |
Deafness, Autosomal Recessive 109 |
26 |
2311 |
|
FXL001 |
Foix-Alajouanine Syndrome |
26 |
2312 |
c
|
JVN011 |
Juvenile Dermatitis Herpetiformis |
26 |
2313 |
c
|
THR023 |
Thrombophilia Due to Thrombomodulin Defect |
26 |
2314 |
c
|
DFN152 |
Deafness, Autosomal Dominant 27 |
26 |
2315 |
c
|
DFN257 |
Deafness, Autosomal Dominant 33 |
26 |
2316 |
|
NRF026 |
Neurofibromatosis, Type Iv, of Riccardi |
26 |
2317 |
c
|
DFN030 |
Deafness, Autosomal Recessive 55 |
25 |
2318 |
c
|
OTF001 |
Otof-Related Deafness |
25 |
2319 |
c
|
DFN173 |
Deafness, Autosomal Recessive 40 |
25 |
2320 |
c
|
DFN271 |
Deafness, Autosomal Dominant 58 |
25 |
2321 |
c
|
DFN162 |
Deafness, Autosomal Dominant 59 |
24 |
2322 |
c
|
DFN169 |
Deafness, Autosomal Recessive 27 |
24 |
2323 |
c
|
ATS528 |
Autosomal Recessive Nonsyndromic Deafness 70 |
24 |
2324 |
c
|
DFN258 |
Deafness, Autosomal Recessive 48 |
24 |
2325 |
c
|
DFN240 |
Deafness, Autosomal Recessive 96 |
24 |
2326 |
c
|
DFN138 |
Deafness, Autosomal Recessive 53 |
24 |
2327 |
c
|
DFN378 |
Deafness, Autosomal Recessive 99 |
24 |
2328 |
|
MSC132 |
Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism |
24 |
2329 |
c
|
DFN179 |
Deafness, Autosomal Recessive 62 |
24 |
2330 |
c
|
DFN149 |
Deafness, Autosomal Dominant 18 |
24 |
2331 |
c
|
DFN174 |
Deafness, Autosomal Recessive 44 |
23 |
2332 |
c
|
DFN184 |
Deafness, Autosomal Recessive 85 |
23 |
2333 |
c
|
DFN373 |
Deafness, Autosomal Recessive 113 |
23 |
2334 |
P
|
RCR026 |
Recurrent Hydatidiform Mole |
23 |
2335 |
c
|
HYD041 |
Hydatidiform Mole, Recurrent, 2 |
23 |
2336 |
c
|
DFN166 |
Deafness, Autosomal Recessive 17 |
23 |
2337 |
c
|
DFN379 |
Deafness, Autosomal Dominant 37 |
22 |
2338 |
c
|
DFN134 |
Deafness, Autosomal Dominant 40 |
22 |
2339 |
c
|
SPR083 |
Sporadic Hemiplegic Migraine |
22 |
2340 |
c
|
DFN160 |
Deafness, Autosomal Dominant 52 |
22 |
2341 |
c
|
DFN329 |
Deafness, Autosomal Dominant 66 |
22 |
2342 |
|
DFN306 |
Deafness, Conductive, with Malformed External Ear |
21 |
2343 |
c
|
DFN168 |
Deafness, Autosomal Recessive 26 |
21 |
2344 |
|
PTR030 |
Pterygium of Conjunctiva and Cornea |
21 |
2345 |
c
|
DFN151 |
Deafness, Autosomal Dominant 24 |
20 |
2346 |
c
|
DFN263 |
Deafness, Autosomal Recessive 68 |
20 |
2347 |
c
|
DFN395 |
Deafness, Autosomal Dominant 82 |
20 |
2348 |
c
|
DFN385 |
Deafness, Autosomal Dominant 78 |
20 |
2349 |
c
|
DFN335 |
Deafness, Autosomal Dominant 71 |
20 |
2350 |
c
|
DFN029 |
Deafness, Autosomal Recessive 51 |
20 |
2351 |
c
|
DFN390 |
Deafness, Autosomal Dominant 80 |
20 |
2352 |
c
|
DFN333 |
Deafness, Autosomal Dominant 73 |
20 |
2353 |
c
|
DFN382 |
Deafness, Autosomal Dominant 76 |
20 |
2354 |
c
|
DFN371 |
Deafness, Autosomal Recessive 112 |
19 |
2355 |
c
|
DFN171 |
Deafness, Autosomal Recessive 33 |
19 |
2356 |
c
|
DFN165 |
Deafness, Autosomal Recessive 14 |
19 |
2357 |
c
|
DFN361 |
Deafness, Autosomal Recessive 106 |
19 |
2358 |
|
ACN028 |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement |
19 |
2359 |
|
CRD023 |
Cardiomyopathy Cataract Hip Spine Disease |
19 |
2360 |
c
|
DFN377 |
Deafness, Autosomal Recessive 115 |
19 |
2361 |
c
|
DFN328 |
Deafness, Autosomal Dominant 72 |
19 |
2362 |
c
|
DFN164 |
Deafness, Autosomal Recessive 13 |
18 |
2363 |
|
SHR023 |
Short Stature Syndrome, Brussels Type |
18 |
2364 |
c
|
DFN368 |
Deafness, Autosomal Dominant 74 |
18 |
2365 |
c
|
HYD067 |
Hydatidiform Mole, Recurrent, 3 |
18 |
2366 |
c
|
DFN167 |
Deafness, Autosomal Recessive 20 |
18 |
2367 |
|
HRT033 |
Heart-Hand Syndrome, Spanish Type |
18 |
2368 |
c
|
DFN180 |
Deafness, Autosomal Recessive 65 |
18 |
2369 |
|
AFB003 |
Afib Amyloidosis |
18 |
2370 |
c
|
DFN158 |
Deafness, Autosomal Dominant 49 |
18 |
2371 |
c
|
DFN325 |
Deafness, Autosomal Recessive 108 |
18 |
2372 |
c
|
DFN337 |
Deafness, Autosomal Recessive 107 |
18 |
2373 |
|
OST046 |
Osteopathia Striata with Pigmentary Dermopathy Including White Forelock |
17 |
2374 |
c
|
DRM040 |
Dermatitis Herpetiformis, Familial |
17 |
2375 |
c
|
ALL027 |
Allergic Bronchopulmonary Aspergillosis, Familial |
17 |
2376 |
c
|
DFN243 |
Deafness, Autosomal Recessive 88 |
17 |
2377 |
c
|
DFN154 |
Deafness, Autosomal Dominant 31 |
17 |
2378 |
c
|
DFN394 |
Deafness, Autosomal Recessive 119 |
17 |
2379 |
c
|
DFN272 |
Deafness, Autosomal Dominant 54 |
17 |
2380 |
c
|
DFN161 |
Deafness, Autosomal Dominant 53 |
17 |
2381 |
c
|
DFN381 |
Deafness, Autosomal Dominant 75 |
17 |
2382 |
c
|
FML056 |
Familial Deafness |
16 |
2383 |
c
|
DFN387 |
Deafness, Autosomal Recessive 116 |
16 |
2384 |
c
|
DFN177 |
Deafness, Autosomal Recessive 5 |
16 |
2385 |
c
|
DFN397 |
Deafness, Autosomal Dominant 84 |
16 |
2386 |
c
|
DFN376 |
Deafness, Autosomal Recessive 114 |
16 |
2387 |
c
|
DFN388 |
Deafness, Autosomal Recessive 117 |
16 |
2388 |
c
|
DFN156 |
Deafness, Autosomal Dominant 43 |
16 |
2389 |
c
|
DFN357 |
Deafness, Autosomal Recessive 47 |
16 |
2390 |
c
|
ATS490 |
Autosomal Dominant Nonsyndromic Deafness 77 |
16 |
2391 |
c
|
THR119 |
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator |
16 |
2392 |
c
|
DFN153 |
Deafness, Autosomal Dominant 30 |
16 |
2393 |
c
|
ATS484 |
Autosomal Dominant Nonsyndromic Deafness 78 |
16 |
2394 |
c
|
DFN383 |
Deafness, Autosomal Dominant 77 |
16 |
2395 |
c
|
DFN261 |
Deafness, Autosomal Recessive 46 |
16 |
2396 |
c
|
DFN386 |
Deafness, Autosomal Dominant 79 |
16 |
2397 |
c
|
HRD219 |
Hereditary Distal Renal Tubular Acidosis |
16 |
2398 |
c
|
DFN396 |
Deafness, Autosomal Dominant 83 |
15 |
2399 |
|
BNK001 |
Banki Syndrome |
15 |
2400 |
c
|
DFN157 |
Deafness, Autosomal Dominant 47 |
15 |
2401 |
c
|
DFN392 |
Deafness, Autosomal Dominant 81 |
15 |
2402 |
c
|
DFN172 |
Deafness, Autosomal Recessive 38 |
15 |
2403 |
|
CRN283 |
Cornea Guttata with Anterior Polar Cataracts |
15 |
2404 |
c
|
DFN182 |
Deafness, Autosomal Recessive 71 |
14 |
2405 |
c
|
DFN175 |
Deafness, Autosomal Recessive 45 |
14 |
2406 |
|
ECT009 |
Ectopia Pupillae |
14 |
2407 |
c
|
SCN066 |
Secondary Erythromelalgia |
14 |
2408 |
|
ATR090 |
Atrophia Maculosa Varioliformis Cutis, Familial |
14 |
2409 |
c
|
ATS487 |
Autosomal Dominant Nonsyndromic Deafness 74 |
13 |
2410 |
|
SBC022 |
Sebaceous Gland Hyperplasia, Familial Presenile |
13 |
2411 |
P
|
RRD005 |
Rare Deafness |
13 |
2412 |
|
GNT138 |
Genetic Intestinal Polyposis |
13 |
2413 |
c
|
FML196 |
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland |
12 |
2414 |
|
DDX005 |
Ddx41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia |
11 |
2415 |
|
CLC061 |
Calcific Aortic Disease with Immunologic Abnormalities, Familial |
11 |
2416 |
|
ATS492 |
Autosomal Dominant Tubulointerstitial Kidney Disease - Ren |
11 |
2417 |
|
IMM016 |
Immune Deficiency, Familial Variable |
11 |
2418 |
|
ADR055 |
Adrenocortical Unresponsiveness to Acth with Postreceptor Defect |
11 |
2419 |
|
ANH005 |
Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands |
11 |
2420 |
|
ERY007 |
Erythropoietin Polycythemia |
9 |
2421 |
|
SPR121 |
Superior Transverse Scapular Ligament, Calcification of, Familial |
9 |
2422 |
c
|
THR126 |
Thrombophilia Due to Decreased Release of Plat |
8 |
2423 |
|
THR121 |
Thrombocythemia with Distal Limb Defects |
8 |
2424 |
|
NPH025 |
Nephrotic Syndrome Ocular Anomalies |
8 |
2425 |
c
|
RRH022 |
Rare Hereditary Thrombophilia |
7 |
2426 |
P
|
NNF006 |
Non-Familial Dilated Cardiomyopathy |
7 |
2427 |
|
DFN343 |
Deafness, Congenital, and Familial Myoclonic Epilepsy |
6 |
2428 |
c
|
ATS488 |
Autosomal Dominant Nonsyndromic Deafness 75 |
6 |
2429 |
c
|
ATS489 |
Autosomal Dominant Nonsyndromic Deafness 76 |
6 |
2430 |
c
|
ATS485 |
Autosomal Dominant Nonsyndromic Deafness 79 |
6 |
2431 |
c
|
ATS486 |
Autosomal Recessive Nonsyndromic Deafness 116 |
6 |
2432 |
|
NNF005 |
Non-Familial Restrictive Cardiomyopathy |
5 |
2433 |
|
PNC125 |
Pancreatic Lymphoma, Familial |
5 |
2434 |
|
PRG135 |
Progressive Dementia with Neuroserpin Inclusion Bodies |
5 |
2435 |
|
OST166 |
Osteoma of Cranial Vault, Familial |
5 |
2436 |
|
FML368 |
Familial Hyperinflammatory Lymphoproliferative Immunodeficiency |
5 |
2437 |
c
|
ATS399 |
Autosomal Dominant Nonsyndromic Deafness 71 |
5 |
2438 |
c
|
ATS402 |
Autosomal Dominant Nonsyndromic Deafness 34 |
5 |
2439 |
c
|
ATS400 |
Autosomal Dominant Nonsyndromic Deafness 72 |
5 |
2440 |
c
|
ATS396 |
Autosomal Recessive Nonsyndromic Deafness 106 |
5 |
2441 |
c
|
ATS397 |
Autosomal Recessive Nonsyndromic Deafness 107 |
5 |
2442 |
c
|
ATS398 |
Autosomal Recessive Nonsyndromic Deafness 108 |
5 |
2443 |
c
|
ATS401 |
Autosomal Dominant Nonsyndromic Deafness 73 |
5 |
2444 |
|
PRG136 |
Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies |
4 |
2445 |
c
|
NNF010 |
Non-Familial Rare Disease with Dilated Cardiomyopathy |
3 |
2446 |
|
STL002 |
Stalker Chitayat Syndrome |
3 |
2447 |
P
|
LNG032 |
Lung Cancer |
98 |
2448 |
c
|
SYS001 |
Systemic Lupus Erythematosus |
87 |
2449 |
P
|
ART067 |
Aortic Aneurysm, Familial Thoracic 1 |
81 |
2450 |
|
STR067 |
Stroke, Ischemic |
81 |
2451 |
c
|
ART115 |
Aortic Valve Disease 1 |
78 |
2452 |
|
PFF001 |
Pfeiffer Syndrome |
77 |
2453 |
P
|
SCH015 |
Schizophrenia |
76 |
2454 |
|
SQM013 |
Squamous Cell Carcinoma, Head and Neck |
75 |
2455 |
P
|
FML011 |
Familial Adenomatous Polyposis |
73 |
2456 |
|
MSC152 |
Muscular Dystrophy, Becker Type |
72 |
2457 |
|
KPS004 |
Kaposi Sarcoma |
71 |
2458 |
|
MLT157 |
Multiple System Atrophy 1 |
71 |
2459 |
c
|
SPN225 |
Spondyloarthropathy 1 |
70 |
2460 |
|
ALP103 |
Alpha-1-Antitrypsin Deficiency |
70 |
2461 |
P
|
PHC003 |
Pheochromocytoma |
70 |
2462 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
70 |
2463 |
c
|
MNN047 |
Mannosidosis, Alpha B, Lysosomal |
70 |
2464 |
P
|
ESS003 |
Essential Thrombocythemia |
70 |
2465 |
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
2466 |
P
|
DYS007 |
Dyskeratosis Congenita |
69 |
2467 |
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
2468 |
c
|
MCL062 |
Mucolipidosis Ii Alpha/beta |
69 |
2469 |
c
|
DNG003 |
Dengue Disease |
69 |
2470 |
|
ABT001 |
Abetalipoproteinemia |
69 |
2471 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
69 |
2472 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
2473 |
|
HTC003 |
Hutchinson-Gilford Progeria Syndrome |
68 |
2474 |
|
PRP001 |
Propionic Acidemia |
68 |
2475 |
|
LYM007 |
Lymphangioleiomyomatosis |
68 |
2476 |
P
|
KBK002 |
Kabuki Syndrome 1 |
67 |
2477 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
67 |
2478 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
67 |
2479 |
c
|
BSL007 |
Basal Cell Carcinoma |
67 |
2480 |
P
|
VNT034 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
67 |
2481 |
P
|
CCK001 |
Cockayne Syndrome |
67 |
2482 |
c
|
PRG042 |
Progressive Familial Heart Block, Type Ia |
67 |
2483 |
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
67 |
2484 |
P
|
DBT009 |
Diabetes Mellitus |
67 |
2485 |
c
|
FML346 |
Familial Adenomatous Polyposis 1 |
67 |
2486 |
|
CHR103 |
Charge Syndrome |
66 |
2487 |
|
BLM001 |
Bloom Syndrome |
66 |
2488 |
P
|
GLC113 |
Galactosemia I |
66 |
2489 |
|
MLT118 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
66 |
2490 |
c
|
MCL013 |
Mucolipidosis Iv |
66 |
2491 |
|