| # |
Family |
MCID |
Name |
MIFTS |
| 1 |
|
FML089 |
Familial Thoracic Aortic Aneurysm and Dissection |
65 |
| 2 |
P
|
MLT048 |
Multiple Familial Trichoepithelioma |
42 |
| 3 |
c
|
PRG126 |
Progressive Familial Heart Block |
49 |
| 4 |
|
PRM175 |
Primary Familial Brain Calcification |
42 |
| 5 |
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
59 |
| 6 |
c
|
SZR014 |
Seizures, Benign Familial Infantile, 1 |
25 |
| 7 |
c
|
BNG006 |
Benign Familial Neonatal Epilepsy |
47 |
| 8 |
P
|
BNG026 |
Benign Neonatal Seizures |
47 |
| 9 |
P
|
NNT056 |
Neonatal Epilepsy Syndrome |
7 |
| 10 |
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
58 |
| 11 |
c
|
FML157 |
Familial Male-Limited Precocious Puberty |
33 |
| 12 |
|
ATT003 |
Attenuated Familial Adenomatous Polyposis |
48 |
| 13 |
P
|
FML186 |
Familial Paroxysmal Nonkinesigenic Dyskinesia |
35 |
| 14 |
c
|
PRX024 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
20 |
| 15 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
40 |
| 16 |
|
MTR030 |
Mitral Valve Prolapse, Familial, X-Linked |
21 |
| 17 |
|
RGH011 |
Right Pulmonary Artery, Anomalous Origin of, Familial |
11 |
| 18 |
P
|
CRD132 |
Cardiac Conduction Defect |
61 |
| 19 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
| 20 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
44 |
| 21 |
c
|
FML250 |
Familial Progressive Cardiac Conduction Defect |
37 |
| 22 |
|
LRY047 |
Laryngeal Abductor Paralysis |
28 |
| 23 |
|
CNV009 |
Convulsions Benign Familial Neonatal Dominant Form |
18 |
| 24 |
P
|
FML156 |
Familial Hyperaldosteronism |
41 |
| 25 |
|
TMP005 |
Temporal Epilepsy, Familial |
25 |
| 26 |
c
|
RRP004 |
Rare Primary Hyperaldosteronism |
10 |
| 27 |
P
|
NTR004 |
Neutropenia |
64 |
| 28 |
c
|
SVR003 |
Severe Congenital Neutropenia |
59 |
| 29 |
c
|
FML023 |
Familial Hemiplegic Migraine |
54 |
| 30 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
52 |
| 31 |
|
FML063 |
Familial Glucocorticoid Deficiency |
51 |
| 32 |
|
EWN002 |
Ewing's Family of Tumors |
48 |
| 33 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
35 |
| 34 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
34 |
| 35 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
32 |
| 36 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
25 |
| 37 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
| 38 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
25 |
| 39 |
c
|
SVR012 |
Severe Congenital Neutropenia Autosomal Dominant |
23 |
| 40 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
20 |
| 41 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
19 |
| 42 |
c
|
ACQ053 |
Acquired Neutropenia |
14 |
| 43 |
|
GNV002 |
Genu Valgum, St. Helena Familial |
11 |
| 44 |
P
|
EPL164 |
Epilepsy |
73 |
| 45 |
c
|
FML001 |
Familial Atrial Fibrillation |
67 |
| 46 |
P
|
ATR011 |
Atrial Fibrillation |
67 |
| 47 |
P
|
CRB048 |
Cerebral Cavernous Malformations |
65 |
| 48 |
P
|
PRN026 |
Porencephaly |
46 |
| 49 |
c
|
BNG023 |
Benign Familial Infantile Epilepsy |
44 |
| 50 |
c
|
FML084 |
Familial Porencephaly |
33 |
| 51 |
c
|
CRB051 |
Cerebral Cavernous Malformation, Familial |
27 |
| 52 |
c
|
INF185 |
Infantile Epilepsy Syndrome |
23 |
| 53 |
c
|
RRP028 |
Rare Epilepsy |
18 |
| 54 |
c
|
ACQ029 |
Acquired Porencephaly |
9 |
| 55 |
c
|
INF176 |
Infectious Disease with Epilepsy |
4 |
| 56 |
c
|
INF177 |
Inflammatory and Autoimmune Disease with Epilepsy |
4 |
| 57 |
|
ATY012 |
Atypical Mycobacteriosis, Familial |
34 |
| 58 |
|
MCR031 |
Macrocephaly, Benign Familial |
16 |
| 59 |
|
FML075 |
Familial Isolated Hyperparathyroidism |
44 |
| 60 |
c
|
BNG079 |
Benign Adult Familial Myoclonic Epilepsy |
36 |
| 61 |
|
DYS182 |
Dysphasia, Familial Developmental |
35 |
| 62 |
|
FML155 |
Familial Acute Myeloid Leukemia with Mutated Cebpa |
12 |
| 63 |
c
|
MTR080 |
Mitral Valve Prolapse 1 |
29 |
| 64 |
|
THM023 |
Thiemann Disease |
21 |
| 65 |
|
CRN069 |
Corneal Hypesthesia, Familial |
18 |
| 66 |
|
CPP001 |
Copper Deficiency, Familial Benign |
18 |
| 67 |
|
MYL018 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
13 |
| 68 |
|
OSS006 |
Ossicular Malformations, Familial |
11 |
| 69 |
P
|
FML279 |
Familial Isolated Arrhythmogenic Right Ventricular Dysplasia |
9 |
| 70 |
|
SHL003 |
Shoulder Girdle Defect Mental Retardation Familial |
5 |
| 71 |
c
|
FBR067 |
Febrile Seizures, Familial, 9 |
14 |
| 72 |
c
|
FBR076 |
Febrile Seizures, Familial, 7 |
12 |
| 73 |
P
|
ART067 |
Aortic Aneurysm, Familial Thoracic 1 |
62 |
| 74 |
c
|
ART138 |
Aortic Aneurysm, Familial Abdominal, 1 |
62 |
| 75 |
|
VSC049 |
Visceral Myopathy, Familial, with External Ophthalmoplegia |
25 |
| 76 |
c
|
EPL053 |
Epilepsy, Familial Adult Myoclonic, 3 |
19 |
| 77 |
c
|
EPL107 |
Epilepsy, Familial Adult Myoclonic, 4 |
16 |
| 78 |
|
DWR023 |
Dwarfism, Familial, with Muscle Spasms |
11 |
| 79 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
67 |
| 80 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
59 |
| 81 |
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
51 |
| 82 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
45 |
| 83 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
42 |
| 84 |
c
|
SPS098 |
Spastic Paraplegia 30, Autosomal Recessive |
42 |
| 85 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
42 |
| 86 |
c
|
SPS126 |
Spastic Paraplegia 49, Autosomal Recessive |
41 |
| 87 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
41 |
| 88 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
41 |
| 89 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
41 |
| 90 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
39 |
| 91 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
38 |
| 92 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
38 |
| 93 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
38 |
| 94 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
37 |
| 95 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
37 |
| 96 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
37 |
| 97 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
37 |
| 98 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
37 |
| 99 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
36 |
| 100 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
36 |
| 101 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
36 |
| 102 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
35 |
| 103 |
c
|
SPS101 |
Spastic Paraplegia 56, Autosomal Recessive |
35 |
| 104 |
c
|
SPS021 |
Spastic Paraplegia 10 |
35 |
| 105 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
34 |
| 106 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
34 |
| 107 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
34 |
| 108 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
34 |
| 109 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
34 |
| 110 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
33 |
| 111 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
33 |
| 112 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
32 |
| 113 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
32 |
| 114 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
31 |
| 115 |
c
|
SPS025 |
Spastic Paraplegia 15 |
31 |
| 116 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
31 |
| 117 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
31 |
| 118 |
c
|
SPS036 |
Spastic Paraplegia 3 |
31 |
| 119 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
30 |
| 120 |
c
|
SPS013 |
Spastic Paraplegia 8 |
30 |
| 121 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
30 |
| 122 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
30 |
| 123 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
28 |
| 124 |
c
|
SPS039 |
Spastic Paraplegia 5a |
28 |
| 125 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
28 |
| 126 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
28 |
| 127 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
27 |
| 128 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
27 |
| 129 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
27 |
| 130 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
27 |
| 131 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
27 |
| 132 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
27 |
| 133 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
27 |
| 134 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
26 |
| 135 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
26 |
| 136 |
P
|
SPS012 |
Spastic Paraplegia 3a |
26 |
| 137 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
26 |
| 138 |
c
|
SPS092 |
Spastic Paraplegia 11 |
26 |
| 139 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
25 |
| 140 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
25 |
| 141 |
c
|
ATS420 |
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations |
24 |
| 142 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
24 |
| 143 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
24 |
| 144 |
c
|
SPS027 |
Spastic Paraplegia 17 |
24 |
| 145 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
23 |
| 146 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
23 |
| 147 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
23 |
| 148 |
c
|
SPS020 |
Spastic Paraplegia 1 |
22 |
| 149 |
c
|
SPS042 |
Spastic Paraplegia 9 |
22 |
| 150 |
c
|
SPS023 |
Spastic Paraplegia 13 |
21 |
| 151 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
20 |
| 152 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
20 |
| 153 |
c
|
SPS037 |
Spastic Paraplegia 31 |
20 |
| 154 |
c
|
SPS038 |
Spastic Paraplegia 39 |
19 |
| 155 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
19 |
| 156 |
c
|
SPS022 |
Spastic Paraplegia 12 |
19 |
| 157 |
c
|
SPS028 |
Spastic Paraplegia 18 |
18 |
| 158 |
c
|
SPS034 |
Spastic Paraplegia 26 |
18 |
| 159 |
c
|
SPS032 |
Spastic Paraplegia 24 |
15 |
| 160 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
14 |
| 161 |
c
|
SPS029 |
Spastic Paraplegia 19 |
14 |
| 162 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
13 |
| 163 |
c
|
SPS035 |
Spastic Paraplegia 29 |
13 |
| 164 |
c
|
SPS161 |
Spastic Paraplegia 32 |
13 |
| 165 |
c
|
SPS033 |
Spastic Paraplegia 25 |
13 |
| 166 |
c
|
SPS080 |
Spastic Paraplegia 51 |
12 |
| 167 |
c
|
SPS024 |
Spastic Paraplegia 14 |
12 |
| 168 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
12 |
| 169 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
12 |
| 170 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
12 |
| 171 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
12 |
| 172 |
c
|
SPS165 |
Spastic Paraplegia 47 |
12 |
| 173 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
12 |
| 174 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
12 |
| 175 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
11 |
| 176 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
11 |
| 177 |
c
|
SPS026 |
Spastic Paraplegia 16 |
11 |
| 178 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
| 179 |
c
|
PRM005 |
Primary Hyperparathyroidism |
60 |
| 180 |
P
|
ANT006 |
Antiphospholipid Syndrome |
56 |
| 181 |
P
|
PRM001 |
Primary Cutaneous Amyloidosis |
44 |
| 182 |
|
INT304 |
Interstitial Pneumonitis, Desquamative, Familial |
42 |
| 183 |
c
|
FBR073 |
Febrile Seizures, Familial, 1 |
29 |
| 184 |
c
|
ANT041 |
Antiphospholipid Syndrome, Familial |
22 |
| 185 |
|
JNT001 |
Joint Laxity, Familial |
22 |
| 186 |
|
FML351 |
Familiar Chronic Mucocutaneous Candidiasis |
21 |
| 187 |
c
|
FBR075 |
Febrile Seizures, Familial, 2 |
20 |
| 188 |
|
DSC014 |
Discoid Fibromas, Familial Multiple |
18 |
| 189 |
c
|
FBR074 |
Febrile Seizures, Familial, 6 |
16 |
| 190 |
c
|
FBR071 |
Febrile Seizures, Familial, 5 |
16 |
| 191 |
c
|
FML348 |
Familial Pityriasis Rubra Pilaris |
14 |
| 192 |
c
|
FBR068 |
Febrile Seizures, Familial, 10 |
13 |
| 193 |
P
|
HYP040 |
Hypospadias |
54 |
| 194 |
P
|
OPT070 |
Optic Nerve Hypoplasia, Bilateral |
47 |
| 195 |
|
LPM010 |
Lipomatosis, Multiple Symmetric |
39 |
| 196 |
|
FML307 |
Familial Calcium Pyrophosphate Deposition |
38 |
| 197 |
P
|
HRZ002 |
Horizontal Gaze Palsy with Progressive Scoliosis |
30 |
| 198 |
c
|
FML213 |
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form |
24 |
| 199 |
P
|
HYD015 |
Hydroa Vacciniforme |
23 |
| 200 |
c
|
FML309 |
Familial Infantile Bilateral Striatal Necrosis |
19 |
| 201 |
|
OST150 |
Osteodysplasia, Familial, Anderson Type |
16 |
| 202 |
c
|
PST093 |
Posterior Hypospadias |
16 |
| 203 |
c
|
HYP545 |
Hypospadias 3, Autosomal |
14 |
| 204 |
|
FML254 |
Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion |
14 |
| 205 |
c
|
HYD016 |
Hydroa Vacciniforme, Familial |
11 |
| 206 |
|
UMB003 |
Umbilicus, Familial Flat |
8 |
| 207 |
c
|
OPT030 |
Optic Nerve Hypoplasia, Familial Bilateral |
7 |
| 208 |
|
RGH002 |
Right Atrium Familial Dilatation |
4 |
| 209 |
c
|
LPM012 |
Lipomatosis, Multiple |
60 |
| 210 |
|
STT041 |
Stuttering |
53 |
| 211 |
P
|
LPM005 |
Lipomatosis |
49 |
| 212 |
P
|
FML313 |
Familial Progressive Hyperpigmentation |
29 |
| 213 |
|
ESN023 |
Eosinophilia, Familial |
22 |
| 214 |
P
|
HYP097 |
Hyperekplexia |
61 |
| 215 |
c
|
HRD039 |
Hereditary Amyloidosis |
46 |
| 216 |
c
|
AVS006 |
Avascular Necrosis of Femoral Head, Primary, 1 |
43 |
| 217 |
P
|
WLL010 |
Woolly Hair Syndrome |
39 |
| 218 |
|
CHR525 |
Chromosome Xq26.3 Duplication Syndrome |
35 |
| 219 |
P
|
ATS382 |
Autosomal Dominant Tubulointerstitial Kidney Disease |
31 |
| 220 |
c
|
CND033 |
Candidiasis, Familial, 1 |
30 |
| 221 |
P
|
PRD017 |
Periodic Paralyses |
27 |
| 222 |
|
DCR009 |
Dicer1-Related Disorders |
26 |
| 223 |
c
|
TRC094 |
Trichoepithelioma, Multiple Familial, 2 |
22 |
| 224 |
c
|
FML249 |
Familial Amyloidosis, Finnish Type |
21 |
| 225 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
21 |
| 226 |
P
|
FML048 |
Familial Avascular Necrosis of the Femoral Head |
21 |
| 227 |
c
|
WLL018 |
Woolly Hair, Autosomal Dominant |
20 |
| 228 |
c
|
AVS005 |
Avascular Necrosis of Femoral Head, Primary, 2 |
19 |
| 229 |
c
|
ATS419 |
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations |
18 |
| 230 |
c
|
WLL035 |
Woolly Hair, Autosomal Recessive 3 |
18 |
| 231 |
c
|
FML159 |
Familial Periodic Paralyses |
17 |
| 232 |
c
|
ATS404 |
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations |
13 |
| 233 |
|
DSM004 |
Desmoid Tumor |
61 |
| 234 |
|
PMP006 |
Pemphigus Vulgaris, Familial |
56 |
| 235 |
P
|
INT260 |
Intracranial Berry Aneurysm |
38 |
| 236 |
|
FML206 |
Familial Cerebral Saccular Aneurysm |
22 |
| 237 |
|
LNT008 |
Lentiginosis, Inherited Patterned |
21 |
| 238 |
c
|
CND027 |
Candidiasis, Familial, 3 |
18 |
| 239 |
|
ADC005 |
Adcy5-Related Dyskinesia |
18 |
| 240 |
|
FMR009 |
Fmr1-Related Primary Ovarian Insufficiency |
17 |
| 241 |
|
GGN006 |
Gigantiform Cementoma, Familial |
16 |
| 242 |
c
|
ART152 |
Aortic Aneurysm, Familial Abdominal, 3 |
14 |
| 243 |
c
|
FCL065 |
Facial Palsy, Familial Recurrent Peripheral |
13 |
| 244 |
c
|
SZR025 |
Seizures, Benign Familial Neonatal, 3 |
12 |
| 245 |
|
EPL014 |
Epilepsy, Partial, Familial |
12 |
| 246 |
c
|
SZR011 |
Seizures, Benign Familial Infantile, 4 |
12 |
| 247 |
c
|
SZR024 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
10 |
| 248 |
|
SYN087 |
Synovial Chondromatosis, Familial, with Dwarfism |
10 |
| 249 |
P
|
RCR003 |
Recurrent Peripheral Facial Palsy |
9 |
| 250 |
|
FML086 |
Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect |
7 |
| 251 |
|
FML088 |
Familial Streblodactyly |
6 |
| 252 |
c
|
MLT160 |
Multiple Endocrine Neoplasia, Type Iia |
69 |
| 253 |
c
|
MLT159 |
Multiple Endocrine Neoplasia, Type Iib |
60 |
| 254 |
P
|
MLT074 |
Multiple Endocrine Neoplasia |
59 |
| 255 |
c
|
MLT086 |
Multiple Endocrine Neoplasia, Type Iv |
51 |
| 256 |
c
|
HYD046 |
Hydatidiform Mole, Recurrent, 1 |
62 |
| 257 |
c
|
ESS001 |
Essential Tremor |
58 |
| 258 |
P
|
HYP076 |
Hyperthyroidism |
55 |
| 259 |
P
|
CRY007 |
Cryoglobulinemia, Familial Mixed |
50 |
| 260 |
c
|
ERL029 |
Early-Onset, Autosomal Dominant Alzheimer Disease |
42 |
| 261 |
|
FML330 |
Familial Lcat Deficiency |
40 |
| 262 |
c
|
TYP024 |
Type Ii Mixed Cryoglobulinemia |
36 |
| 263 |
P
|
HYP078 |
Hypertrophy of Breast |
35 |
| 264 |
|
TST023 |
Testotoxicosis |
35 |
| 265 |
c
|
FML350 |
Familial Febrile Seizures |
31 |
| 266 |
|
HRD084 |
Hereditary Cerebral Amyloid Angiopathy |
29 |
| 267 |
|
NPP006 |
Nipples, Supernumerary |
29 |
| 268 |
P
|
RCR026 |
Recurrent Hydatidiform Mole |
26 |
| 269 |
c
|
HYD041 |
Hydatidiform Mole, Recurrent, 2 |
24 |
| 270 |
c
|
TRM017 |
Tremor, Hereditary Essential, 4 |
21 |
| 271 |
c
|
HYP678 |
Hypertrophy of the Breast, Juvenile |
20 |
| 272 |
|
GLC053 |
Glucocorticoid Deficiency 3 |
20 |
| 273 |
|
CRR016 |
Cirrhosis, Familial |
19 |
| 274 |
|
CLL041 |
Collagenoma, Familial Cutaneous |
19 |
| 275 |
c
|
TRM022 |
Tremor, Hereditary Essential, 5 |
19 |
| 276 |
c
|
TRM020 |
Tremor, Hereditary Essential, 2 |
19 |
| 277 |
c
|
FML067 |
Familial Hyperthyroidism Due to Mutations in Tsh Receptor |
18 |
| 278 |
c
|
HYD067 |
Hydatidiform Mole, Recurrent, 3 |
15 |
| 279 |
c
|
HYD068 |
Hydatidiform Mole, Recurrent, 4 |
15 |
| 280 |
c
|
MXD037 |
Mixed Cryoglobulinemia Type Iii |
13 |
| 281 |
c
|
XNC002 |
X Inactivation, Familial Skewed, 2 |
13 |
| 282 |
c
|
TRM016 |
Tremor, Hereditary Essential, 3 |
12 |
| 283 |
|
ABS007 |
Absent Patella |
12 |
| 284 |
c
|
RRH008 |
Rare Hyperthyroidism |
12 |
| 285 |
|
FML160 |
Familial Spastic Paralysis |
10 |
| 286 |
c
|
RRT014 |
Rare Tremor Disorder |
4 |
| 287 |
P
|
OVR042 |
Ovarian Cancer |
89 |
| 288 |
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
| 289 |
P
|
HMN010 |
Hemangioma |
62 |
| 290 |
c
|
VSC019 |
Vesicoureteral Reflux 1 |
62 |
| 291 |
c
|
AMY087 |
Amyloidosis, Hereditary, Transthyretin-Related |
59 |
| 292 |
c
|
PSD114 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
56 |
| 293 |
P
|
SCK002 |
Sick Sinus Syndrome |
56 |
| 294 |
P
|
PLY018 |
Polycythemia |
56 |
| 295 |
P
|
OVR049 |
Ovarian Disease |
55 |
| 296 |
P
|
MYS005 |
Myositis |
54 |
| 297 |
c
|
PRM012 |
Primary Polycythemia |
52 |
| 298 |
P
|
OTS001 |
Otosclerosis |
51 |
| 299 |
c
|
PSD112 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
48 |
| 300 |
|
PRP007 |
Priapism |
47 |
| 301 |
|
KLN009 |
Kleine-Levin Hibernation Syndrome |
46 |
| 302 |
|
HRT015 |
Heritable Pulmonary Arterial Hypertension |
46 |
| 303 |
|
ATX019 |
Ataxia with Vitamin E Deficiency |
46 |
| 304 |
P
|
PSD003 |
Pseudohypoaldosteronism |
45 |
| 305 |
c
|
ACQ010 |
Acquired Polycythemia |
43 |
| 306 |
c
|
FML297 |
Familial Thyroid Dyshormonogenesis |
43 |
| 307 |
|
ACH015 |
Achalasia, Familial Esophageal |
42 |
| 308 |
c
|
OVR114 |
Ovarian Cancer 1 |
39 |
| 309 |
P
|
HYP120 |
Hypoaldosteronism |
38 |
| 310 |
|
BNG018 |
Benign Paroxysmal Positional Nystagmus |
37 |
| 311 |
|
FBR089 |
Fibrosclerosis, Multifocal |
37 |
| 312 |
c
|
FML272 |
Familial Sick Sinus Syndrome |
35 |
| 313 |
c
|
FML353 |
Familial Ovarian Cancer |
35 |
| 314 |
|
ALV006 |
Alveolar Capillary Dysplasia |
33 |
| 315 |
c
|
PSD090 |
Pseudohypoaldosteronism, Type Iia |
32 |
| 316 |
|
CFL005 |
Cafe-Au-Lait Spots, Multiple |
31 |
| 317 |
c
|
FML324 |
Familial Porphyria Cutanea Tarda |
31 |
| 318 |
c
|
PRP091 |
Porphyria Cutanea Tarda, Type I |
31 |
| 319 |
c
|
ALZ062 |
Alzheimer Disease 19 |
30 |
| 320 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
30 |
| 321 |
c
|
OTS005 |
Otosclerosis 1 |
29 |
| 322 |
P
|
THY061 |
Thyroid Dyshormonogenesis 2a |
29 |
| 323 |
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
28 |
| 324 |
c
|
THY056 |
Thyroid Dyshormonogenesis 3 |
28 |
| 325 |
P
|
FML284 |
Familial Vesicoureteral Reflux |
27 |
| 326 |
c
|
ALZ057 |
Alzheimer Disease 10 |
27 |
| 327 |
c
|
MLG144 |
Malignant Hemangioma |
26 |
| 328 |
c
|
ALZ012 |
Alzheimer Disease 12 |
26 |
| 329 |
|
GNT044 |
Genetic Atypical Hemolytic-Uremic Syndrome |
26 |
| 330 |
P
|
HRD207 |
Hereditary Transthyretin Amyloidosis |
26 |
| 331 |
P
|
PRX010 |
Paroxysmal Ventricular Fibrillation |
26 |
| 332 |
c
|
THY063 |
Thyroid Dyshormonogenesis 4 |
25 |
| 333 |
c
|
PSD068 |
Pseudohypoaldosteronism, Type Iic |
25 |
| 334 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
25 |
| 335 |
c
|
ALZ045 |
Alzheimer Disease 9 |
24 |
| 336 |
c
|
ALZ016 |
Alzheimer Disease 8 |
24 |
| 337 |
c
|
PLM044 |
Pulmonary Fibrosis, Familial |
24 |
| 338 |
c
|
PSD094 |
Pseudohypoaldosteronism, Type Iib |
23 |
| 339 |
|
CLL039 |
Collagenosis, Familial Reactive Perforating |
23 |
| 340 |
c
|
SCK022 |
Sick Sinus Syndrome 3 |
23 |
| 341 |
P
|
CMP101 |
Complex Hereditary Spastic Paraplegia |
23 |
| 342 |
|
FML214 |
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form |
22 |
| 343 |
|
FML215 |
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form |
22 |
| 344 |
c
|
CNG578 |
Congenital Hemangioma |
22 |
| 345 |
c
|
ALZ015 |
Alzheimer Disease 6 |
22 |
| 346 |
P
|
PRH002 |
Pure Hereditary Spastic Paraplegia |
22 |
| 347 |
c
|
VSC046 |
Vesicoureteral Reflux 8 |
22 |
| 348 |
c
|
MTR077 |
Mitral Valve Prolapse 2 |
22 |
| 349 |
|
CNG114 |
Congenital Myasthenic Syndrome with Episodic Apnea |
22 |
| 350 |
c
|
THY110 |
Thyroid Dyshormonogenesis 6 |
21 |
| 351 |
c
|
VSC020 |
Vesicoureteral Reflux 2 |
21 |
| 352 |
c
|
VSC025 |
Vesicoureteral Reflux 3 |
21 |
| 353 |
c
|
ARR049 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
21 |
| 354 |
c
|
ALZ053 |
Alzheimer Disease 7 |
21 |
| 355 |
c
|
ALZ014 |
Alzheimer Disease 16 |
21 |
| 356 |
c
|
ATS209 |
Autosomal Dominant Secondary Polycythemia |
21 |
| 357 |
|
RHZ008 |
Rhizomelic Syndrome |
20 |
| 358 |
c
|
THY062 |
Thyroid Dyshormonogenesis 5 |
20 |
| 359 |
c
|
ALZ032 |
Alzheimer Disease 18 |
20 |
| 360 |
c
|
MGR036 |
Migraine with or Without Aura 2 |
20 |
| 361 |
c
|
ACQ004 |
Acquired Hemangioma |
19 |
| 362 |
c
|
ALZ060 |
Alzheimer Disease 14 |
19 |
| 363 |
c
|
MTR083 |
Mitral Valve Prolapse 3 |
19 |
| 364 |
|
ANG063 |
Angiolipomatosis, Familial |
18 |
| 365 |
c
|
ALZ031 |
Alzheimer Disease 17 |
18 |
| 366 |
c
|
WLM017 |
Wilms Tumor 4 |
18 |
| 367 |
c
|
ALZ061 |
Alzheimer Disease 15 |
18 |
| 368 |
c
|
OTS007 |
Otosclerosis 3 |
17 |
| 369 |
c
|
OTS006 |
Otosclerosis 2 |
17 |
| 370 |
|
ATS312 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related |
16 |
| 371 |
c
|
ALZ059 |
Alzheimer Disease 13 |
16 |
| 372 |
c
|
FML227 |
Familial Partial Lipodystrophy Due to Akt2 Mutations |
16 |
| 373 |
c
|
OTS012 |
Otosclerosis 10 |
15 |
| 374 |
c
|
VRL025 |
Viral Myositis |
15 |
| 375 |
c
|
OTS010 |
Otosclerosis 7 |
15 |
| 376 |
c
|
ART151 |
Aortic Aneurysm, Familial Abdominal, 2 |
15 |
| 377 |
c
|
CRD057 |
Cardiomyopathy, Familial Restrictive, 2 |
15 |
| 378 |
c
|
ATS470 |
Autosomal Dominant Pure Spastic Paraplegia |
14 |
| 379 |
c
|
VSC043 |
Vesicoureteral Reflux 6 |
14 |
| 380 |
c
|
OTS008 |
Otosclerosis 4 |
14 |
| 381 |
|
CMD004 |
Comedones, Familial Dyskeratotic |
14 |
| 382 |
c
|
OTS011 |
Otosclerosis 8 |
14 |
| 383 |
|
FML325 |
Familial Cervical Artery Dissection |
14 |
| 384 |
c
|
BCT018 |
Bacterial Myositis |
14 |
| 385 |
c
|
OTS009 |
Otosclerosis 5 |
13 |
| 386 |
|
HYP786 |
Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy |
13 |
| 387 |
c
|
VSC042 |
Vesicoureteral Reflux 5 |
13 |
| 388 |
c
|
VSC040 |
Vesicoureteral Reflux 4 |
12 |
| 389 |
c
|
VSC041 |
Vesicoureteral Reflux 7 |
12 |
| 390 |
|
ERY057 |
Erythema Nodosum, Familial |
12 |
| 391 |
|
FCT026 |
Factor Viii and Factor Ix, Combined Deficiency of |
12 |
| 392 |
c
|
ATS154 |
Autosomal Recessive Complex Spastic Paraplegia |
11 |
| 393 |
|
FCT027 |
Factors Viii, Ix and Xi, Combined Deficiency of |
11 |
| 394 |
|
FCT025 |
Factor Vii and Factor Viii, Combined Deficiency of |
11 |
| 395 |
|
AXN008 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
11 |
| 396 |
|
NGY001 |
Nguyen Syndrome |
11 |
| 397 |
|
FML329 |
Familial Caudal Dysgenesis |
10 |
| 398 |
P
|
STT039 |
Stuttering, Familial Persistent, 4 |
10 |
| 399 |
c
|
LCL003 |
Localized Pulmonary Fibrosis |
10 |
| 400 |
|
IMM016 |
Immune Deficiency, Familial Variable |
10 |
| 401 |
c
|
STT036 |
Stuttering, Familial Persistent, 3 |
10 |
| 402 |
P
|
PRR040 |
Pure or Complex Hereditary Spastic Paraplegia |
9 |
| 403 |
c
|
PRR042 |
Pure or Complex Autosomal Recessive Spastic Paraplegia |
9 |
| 404 |
c
|
ATS405 |
Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction |
9 |
| 405 |
|
FCT028 |
Factor Ix and Factor Xi, Combined Deficiency of |
9 |
| 406 |
|
NFK002 |
Nf-Kappa B Essential Modulator Deficiency |
9 |
| 407 |
c
|
ATS471 |
Autosomal Dominant Complex Spastic Paraplegia |
9 |
| 408 |
c
|
ERL059 |
Early-Onset Familial Hypoaldosteronism |
9 |
| 409 |
c
|
CNG266 |
Congenital Secondary Polycythemia |
8 |
| 410 |
c
|
LTN026 |
Late-Onset Familial Hypoaldosteronism |
8 |
| 411 |
c
|
ACQ028 |
Acquired Secondary Polycythemia |
7 |
| 412 |
c
|
ATS153 |
Autosomal Recessive Pure Spastic Paraplegia |
7 |
| 413 |
c
|
FML158 |
Familial Hemangioma |
6 |
| 414 |
c
|
PLY005 |
Polycythemia Due to Hypoxia |
6 |
| 415 |
c
|
RRH005 |
Rare Hypoaldosteronism |
5 |
| 416 |
c
|
OTS004 |
Otosclerosis, Familial |
5 |
| 417 |
c
|
PRR041 |
Pure or Complex Autosomal Dominant Spastic Paraplegia |
4 |
| 418 |
c
|
OVR071 |
Ovarian Insufficiency, Familial |
4 |
| 419 |
P
|
MTR029 |
Mitral Valve Prolapse, Familial, Autosomal Dominant |
3 |
| 420 |
c
|
PLM183 |
Pulmonary Hypoplasia, Familial Primary |
3 |
| 421 |
|
FML082 |
Familial Partial Paralysis |
2 |
| 422 |
|
HYP197 |
Hypofibrinogenemia, Familial |
2 |
| 423 |
|
DST014 |
Distal Primary Acidosis, Familial |
1 |
| 424 |
|
HYP153 |
Hypergonadotropic Ovarian Failure, Familial or Sporadic |
1 |
| 425 |
|
MLT051 |
Multiple Fibrofolliculoma Familial |
1 |
| 426 |
|
NSL012 |
Nasal Polyposis, Familial |
1 |
| 427 |
|
PLM055 |
Pulmonary Artery Familial Dilatation |
1 |
| 428 |
|
CYC008 |
Cyclic Vomiting Syndrome |
46 |
| 429 |
|
ACT164 |
Actinic Prurigo |
44 |
| 430 |
|
FML091 |
Familial Tumoral Calcinosis |
40 |
| 431 |
P
|
FML340 |
Familial Episodic Pain Syndrome |
28 |
| 432 |
|
UPN001 |
Upington Disease |
17 |
| 433 |
P
|
ISL078 |
Isolated Ectopia Lentis |
55 |
| 434 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
53 |
| 435 |
c
|
CHL140 |
Chilblain Lupus 1 |
52 |
| 436 |
c
|
CNT075 |
Central Precocious Puberty |
50 |
| 437 |
c
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
49 |
| 438 |
|
MTY001 |
Mutyh-Associated Polyposis |
48 |
| 439 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
48 |
| 440 |
P
|
PRC019 |
Precocious Puberty |
48 |
| 441 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
46 |
| 442 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
43 |
| 443 |
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
41 |
| 444 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
39 |
| 445 |
|
CNG064 |
Congenital Chloride Diarrhea |
33 |
| 446 |
c
|
PRC047 |
Precocious Puberty, Central, 1 |
31 |
| 447 |
P
|
VRT013 |
Vertigo, Benign Recurrent |
29 |
| 448 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
26 |
| 449 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
25 |
| 450 |
P
|
FML337 |
Familial Chilblain Lupus |
23 |
| 451 |
c
|
PRC046 |
Precocious Puberty, Central, 2 |
23 |
| 452 |
|
FLR003 |
Florid Cemento-Osseous Dysplasia |
21 |
| 453 |
c
|
CHL114 |
Chilblain Lupus 2 |
20 |
| 454 |
|
ANR043 |
Aniridia and Absent Patella |
17 |
| 455 |
|
HRS037 |
Hirschsprung Disease with Type D Brachydactyly |
17 |
| 456 |
c
|
HYP563 |
Hyperpigmentation, Familial Progressive, 1 |
16 |
| 457 |
|
ULN021 |
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet |
16 |
| 458 |
c
|
HYP842 |
Hyperlipidemia, Familial Combined, 2 |
15 |
| 459 |
|
VST008 |
Vestibulocochlear Dysfunction, Progressive |
14 |
| 460 |
|
CMP022 |
Camptodactyly Taurinuria |
13 |
| 461 |
c
|
SCN039 |
Secondary Central Precocious Puberty |
10 |
| 462 |
c
|
VRT008 |
Vertigo, Benign Recurrent, 2 |
9 |
| 463 |
|
ART113 |
Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability |
8 |
| 464 |
c
|
RRP025 |
Rare Precocious Puberty |
7 |
| 465 |
c
|
HYP595 |
Hypertension, Essential |
87 |
| 466 |
P
|
RTN024 |
Retinoblastoma |
74 |
| 467 |
c
|
MGR028 |
Migraine with or Without Aura 1 |
70 |
| 468 |
c
|
WLM013 |
Wilms Tumor 1 |
69 |
| 469 |
c
|
LNG044 |
Long Qt Syndrome 1 |
66 |
| 470 |
P
|
HYP069 |
Hyperparathyroidism |
64 |
| 471 |
c
|
WLM018 |
Wilms Tumor 5 |
63 |
| 472 |
c
|
THY102 |
Thyroid Cancer, Nonmedullary, 2 |
59 |
| 473 |
c
|
LNG047 |
Long Qt Syndrome 2 |
57 |
| 474 |
P
|
SHR029 |
Short Syndrome |
56 |
| 475 |
P
|
LCH002 |
Lichen Planus |
55 |
| 476 |
c
|
FML191 |
Familial Long Qt Syndrome |
54 |
| 477 |
P
|
HYP083 |
Hypopituitarism |
53 |
| 478 |
P
|
NLD001 |
Nail Disease |
52 |
| 479 |
c
|
SCN007 |
Secondary Hyperparathyroidism |
52 |
| 480 |
|
BNG009 |
Benign Epilepsy with Centrotemporal Spikes |
52 |
| 481 |
P
|
BND018 |
Band Heterotopia |
51 |
| 482 |
P
|
ACT008 |
Actinic Keratosis |
50 |
| 483 |
c
|
LNG048 |
Long Qt Syndrome 3 |
50 |
| 484 |
P
|
FML355 |
Familial Intrahepatic Cholestasis |
49 |
| 485 |
P
|
OBS001 |
Obstructive Jaundice |
49 |
| 486 |
|
HMZ003 |
Homozygous Familial Hypercholesterolemia |
48 |
| 487 |
P
|
MGR001 |
Migraine Without Aura |
47 |
| 488 |
c
|
SHR030 |
Short Qt Syndrome |
47 |
| 489 |
|
MCL027 |
Macular Dystrophy, Dominant Cystoid |
47 |
| 490 |
c
|
MLG069 |
Malignant Hypertension |
46 |
| 491 |
P
|
KRT005 |
Keratoacanthoma |
46 |
| 492 |
c
|
FML008 |
Familial Retinoblastoma |
46 |
| 493 |
|
BRR012 |
Berardinelli-Seip Congenital Lipodystrophy |
46 |
| 494 |
c
|
LNG051 |
Long Qt Syndrome 6 |
45 |
| 495 |
c
|
LNG050 |
Long Qt Syndrome 5 |
45 |
| 496 |
P
|
ORF002 |
Orofacial Cleft |
44 |
| 497 |
P
|
CLS010 |
Cluster Headache |
44 |
| 498 |
c
|
NLD016 |
Nail Disorder, Nonsyndromic Congenital, 10 |
42 |
| 499 |
c
|
FML294 |
Familial Short Qt Syndrome |
41 |
| 500 |
c
|
LNG053 |
Long Qt Syndrome 9 |
41 |
| 501 |
P
|
HMF004 |
Hemifacial Spasm |
40 |
| 502 |
c
|
LNG056 |
Long Qt Syndrome 12 |
39 |
| 503 |
c
|
LNG096 |
Long Qt Syndrome 15 |
38 |
| 504 |
c
|
WLM011 |
Wilms Tumor 6 |
38 |
| 505 |
|
SPN354 |
Spinal Arachnoiditis |
37 |
| 506 |
c
|
LNG057 |
Long Qt Syndrome 13 |
37 |
| 507 |
|
TRN030 |
Transient Erythroblastopenia of Childhood |
35 |
| 508 |
P
|
FML187 |
Familial Hypertension |
35 |
| 509 |
|
NND010 |
Nondisjunction |
35 |
| 510 |
c
|
FML306 |
Familial or Sporadic Hemiplegic Migraine |
34 |
| 511 |
c
|
ART068 |
Aortic Aneurysm, Familial Thoracic 2 |
34 |
| 512 |
c
|
NLD009 |
Nail Disorder, Nonsyndromic Congenital, 1 |
34 |
| 513 |
c
|
HMF011 |
Hemifacial Spasm, Familial |
34 |
| 514 |
c
|
MNS014 |
Monosomy 22 |
33 |
| 515 |
|
PDT014 |
Pediatric Ependymoma |
33 |
| 516 |
c
|
NLD006 |
Nail Disorder, Nonsyndromic Congenital, 9 |
33 |
| 517 |
P
|
GLM006 |
Glomangioma |
32 |
| 518 |
c
|
HRD198 |
Hereditary Dystonia |
32 |
| 519 |
c
|
MLG039 |
Malignant Essential Hypertension |
31 |
| 520 |
c
|
NLD012 |
Nail Disorder, Nonsyndromic Congenital, 3 |
31 |
| 521 |
c
|
SPR083 |
Sporadic Hemiplegic Migraine |
30 |
| 522 |
c
|
LNG098 |
Long Qt Syndrome 14 |
29 |
| 523 |
c
|
BNG021 |
Benign Essential Hypertension |
29 |
| 524 |
|
5LP001 |
5-Alpha Reductase Deficiency |
29 |
| 525 |
c
|
SPS091 |
Spastic Paraplegia 4 |
29 |
| 526 |
c
|
SHR032 |
Short Qt Syndrome 2 |
29 |
| 527 |
|
FML235 |
Familial Combined Hyperlipoproteinemia |
29 |
| 528 |
|
FML292 |
Familial Drusen |
29 |
| 529 |
c
|
ORF048 |
Orofacial Cleft 1 |
28 |
| 530 |
P
|
ACT232 |
Acute Necrotizing Encephalopathy |
28 |
| 531 |
c
|
SHR033 |
Short Qt Syndrome 3 |
28 |
| 532 |
c
|
SHR031 |
Short Qt Syndrome 1 |
28 |
| 533 |
c
|
ORF027 |
Orofacial Cleft 11 |
28 |
| 534 |
P
|
CRY006 |
Cryofibrinogenemia |
28 |
| 535 |
c
|
WLM005 |
Wilms Tumor 2 |
27 |
| 536 |
c
|
NLD015 |
Nail Disorder, Nonsyndromic Congenital, 8 |
27 |
| 537 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
26 |
| 538 |
c
|
SPS041 |
Spastic Paraplegia 6 |
26 |
| 539 |
|
ACR034 |
Acrogeria, Gottron Type |
26 |
| 540 |
c
|
MNS008 |
Monosomy 21 |
25 |
| 541 |
c
|
MLG080 |
Malignant Secondary Hypertension |
25 |
| 542 |
|
PRR031 |
Pruritic Urticarial Papules and Plaques of Pregnancy |
25 |
| 543 |
c
|
ORF028 |
Orofacial Cleft 10 |
24 |
| 544 |
c
|
HYP720 |
Hyperparathyroidism 4 |
24 |
| 545 |
|
CRT064 |
Corticosterone Methyloxidase Deficiency |
24 |
| 546 |
c
|
HYP311 |
Hyperparathyroidism 3 |
24 |
| 547 |
|
PRF005 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
24 |
| 548 |
c
|
LNG046 |
Long Qt Syndrome 11 |
23 |
| 549 |
|
LPM007 |
Lipomyelomeningocele |
23 |
| 550 |
c
|
LNG052 |
Long Qt Syndrome 8 |
23 |
| 551 |
|
HYP693 |
Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia |
23 |
| 552 |
c
|
HYP163 |
Hyperlipidemia Type 3 |
23 |
| 553 |
|
DRM041 |
Dermoid Cysts, Familial Frontonasal |
22 |
| 554 |
|
AMN009 |
Amniotic Band Syndrome |
22 |
| 555 |
c
|
GNS004 |
Geniospasm 1 |
21 |
| 556 |
|
LRY046 |
Laryngeal Web, Familial |
21 |
| 557 |
c
|
ATR026 |
Atrial Fibrillation, Familial, 1 |
21 |
| 558 |
c
|
ORF025 |
Orofacial Cleft 6 |
21 |
| 559 |
c
|
NLD007 |
Nail Disorder, Nonsyndromic Congenital, 7 |
21 |
| 560 |
c
|
ANR027 |
Aneurysm, Intracranial Berry, 1 |
21 |
| 561 |
c
|
FML223 |
Familial Keratoacanthoma |
21 |
| 562 |
|
PTR030 |
Pterygium of Conjunctiva and Cornea |
21 |
| 563 |
P
|
FML305 |
Familial Abdominal Aortic Aneurysm |
20 |
| 564 |
c
|
ORF014 |
Orofacial Cleft 5 |
20 |
| 565 |
|
ZNC006 |
Zinc, Elevated Plasma |
20 |
| 566 |
|
FLN007 |
Flna-Related Periventricular Nodular Heterotopia |
20 |
| 567 |
c
|
THY101 |
Thyroid Cancer, Nonmedullary, 5 |
20 |
| 568 |
|
MND005 |
Mondini Dysplasia |
19 |
| 569 |
c
|
FML258 |
Familial Acute Necrotizing Encephalopathy |
19 |
| 570 |
c
|
SCN048 |
Secondary Syringomyelia |
19 |
| 571 |
c
|
GLM014 |
Glomerulopathy with Fibronectin Deposits 1 |
19 |
| 572 |
|
RTN078 |
Retinoschisis of Fovea |
19 |
| 573 |
c
|
NLD011 |
Nail Disorder, Nonsyndromic Congenital, 2 |
19 |
| 574 |
c
|
THY100 |
Thyroid Cancer, Nonmedullary, 4 |
19 |
| 575 |
c
|
INH025 |
Inherited Prion Disease |
19 |
| 576 |
c
|
FML025 |
Familial Glomangioma |
18 |
| 577 |
c
|
ORF050 |
Orofacial Cleft 2 |
18 |
| 578 |
c
|
WLM015 |
Wilms Tumor 3 |
18 |
| 579 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
18 |
| 580 |
P
|
ATS469 |
Autosomal Monosomy |
18 |
| 581 |
c
|
MNS011 |
Monosomy 9q22.3 |
17 |
| 582 |
c
|
ORF016 |
Orofacial Cleft 8 |
17 |
| 583 |
c
|
ORF047 |
Orofacial Cleft 15 |
17 |
| 584 |
P
|
ALK019 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 |
17 |
| 585 |
c
|
SPR070 |
Sporadic Infantile Bilateral Striatal Necrosis |
17 |
| 586 |
c
|
ORF049 |
Orofacial Cleft 3 |
17 |
| 587 |
c
|
FML275 |
Familial Hypoaldosteronism |
17 |
| 588 |
c
|
HYP529 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
17 |
| 589 |
|
CHR363 |
Chromosome 17q23.1-Q23.2 Duplication Syndrome |
17 |
| 590 |
|
ANK015 |
Ankylosing Vertebral Hyperostosis with Tylosis |
16 |
| 591 |
c
|
ALZ058 |
Alzheimer Disease 11 |
16 |
| 592 |
c
|
MGR033 |
Migraine with or Without Aura 6 |
16 |
| 593 |
c
|
ORF031 |
Orofacial Cleft 14 |
16 |
| 594 |
|
ACN028 |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement |
16 |
| 595 |
c
|
MGR022 |
Migraine with or Without Aura 3 |
16 |
| 596 |
|
HND005 |
Hand and Foot Deformity with Flat Facies |
16 |
| 597 |
|
IDP075 |
Idiopathic and/or Familial Pulmonary Arterial Hypertension |
16 |
| 598 |
|
APR002 |
Aip-Related Familial Isolated Pituitary Adenomas |
15 |
| 599 |
c
|
ATR027 |
Atrial Fibrillation, Familial, 5 |
15 |
| 600 |
c
|
NLD013 |
Nail Disorder, Nonsyndromic Congenital, 5 |
15 |
| 601 |
|
IDP082 |
Idiopathic Ventricular Fibrillation, Non Brugada Type |
15 |
| 602 |
P
|
FML354 |
Familial Nonmedullary Thyroid Carcinoma |
15 |
| 603 |
c
|
CLS053 |
Cluster Headache, Familial |
15 |
| 604 |
c
|
MGR024 |
Migraine with or Without Aura 5 |
15 |
| 605 |
|
FLT007 |
Flotch Syndrome |
15 |
| 606 |
c
|
NLD010 |
Nail Disorder, Nonsyndromic Congenital, 6 |
15 |
| 607 |
c
|
ORF029 |
Orofacial Cleft 13 |
15 |
| 608 |
c
|
CHN023 |
Chondrocalcinosis Due to Apatite Crystal Deposition |
14 |
| 609 |
|
WHT018 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
14 |
| 610 |
c
|
MGR042 |
Migraine with or Without Aura 13 |
14 |
| 611 |
c
|
MGR023 |
Migraine Without Aura 4 |
14 |
| 612 |
c
|
MGR040 |
Migraine with or Without Aura 12 |
14 |
| 613 |
|
PLM045 |
Palmer Pagon Syndrome |
14 |
| 614 |
c
|
ACT229 |
Acute Necrotizing Encephalopathy Type 1 |
14 |
| 615 |
c
|
ORF023 |
Orofacial Cleft 4 |
14 |
| 616 |
c
|
THY117 |
Thyroid Cancer, Nonmedullary, 3 |
14 |
| 617 |
|
STR032 |
Steroid Dehydrogenase Deficiency Dental Anomalies |
14 |
| 618 |
c
|
ANR028 |
Aneurysm, Intracranial Berry, 3 |
14 |
| 619 |
|
FML315 |
Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia |
14 |
| 620 |
c
|
ORF020 |
Orofacial Cleft 12 |
14 |
| 621 |
c
|
ANR011 |
Aneurysm, Intracranial Berry, 2 |
13 |
| 622 |
c
|
ORF024 |
Orofacial Cleft 9 |
13 |
| 623 |
c
|
ATR025 |
Atrial Fibrillation, Familial, 2 |
13 |
| 624 |
|
CRN258 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
13 |
| 625 |
P
|
HRD194 |
Hereditary Geniospasm |
13 |
| 626 |
c
|
FML255 |
Familial Syringomyelia |
13 |
| 627 |
c
|
ART108 |
Aortic Aneurysm, Familial Abdominal, 4 |
13 |
| 628 |
|
EPL008 |
Epilepsy Occipital Calcifications |
13 |
| 629 |
c
|
ANR029 |
Aneurysm, Intracranial Berry, 6 |
13 |
| 630 |
c
|
ATR028 |
Atrial Fibrillation, Familial, 8 |
13 |
| 631 |
c
|
MGR037 |
Migraine with or Without Aura 8 |
13 |
| 632 |
c
|
ANR024 |
Aneurysm, Intracranial Berry, 9 |
13 |
| 633 |
c
|
MGR038 |
Migraine with or Without Aura 10 |
13 |
| 634 |
c
|
LCH017 |
Lichen Planus, Familial |
13 |
| 635 |
c
|
ANR022 |
Aneurysm, Intracranial Berry, 4 |
13 |
| 636 |
|
ECT009 |
Ectopia Pupillae |
13 |
| 637 |
c
|
ANR026 |
Aneurysm, Intracranial Berry, 5 |
12 |
| 638 |
c
|
ANR023 |
Aneurysm, Intracranial Berry, 7 |
12 |
| 639 |
c
|
ANR030 |
Aneurysm, Intracranial Berry, 8 |
12 |
| 640 |
c
|
PRM168 |
Primary Syringomyelia |
12 |
| 641 |
c
|
RRL001 |
Rare Lichen Planus |
12 |
| 642 |
c
|
ANR025 |
Aneurysm, Intracranial Berry, 10 |
12 |
| 643 |
c
|
MGR039 |
Migraine with or Without Aura 11 |
12 |
| 644 |
|
FML079 |
Familial Nasal Acilia |
12 |
| 645 |
|
CHR648 |
Chorea, Remitting, with Nystagmus and Cataract |
11 |
| 646 |
c
|
ANR039 |
Aneurysm, Intracranial Berry, 11 |
11 |
| 647 |
P
|
CHR636 |
Chorea, Benign Familial |
11 |
| 648 |
c
|
RRH011 |
Rare Hyperparathyroidism |
11 |
| 649 |
c
|
HYP447 |
Hypertension, Essential 1 |
11 |
| 650 |
c
|
HYP452 |
Hypertension, Essential 6 |
11 |
| 651 |
|
ALP096 |
Alopecia, Familial Focal |
11 |
| 652 |
c
|
FML196 |
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland |
10 |
| 653 |
c
|
HYP448 |
Hypertension, Essential 2 |
10 |
| 654 |
c
|
FML072 |
Familial Hypopituitarism |
10 |
| 655 |
c
|
HYP449 |
Hypertension, Essential 3 |
10 |
| 656 |
c
|
HYP450 |
Hypertension, Essential 4 |
10 |
| 657 |
c
|
FML317 |
Familial Monosomy 7 Syndrome |
10 |
| 658 |
|
TTR009 |
Tetralogy of Fallot and Glaucoma |
10 |
| 659 |
|
ADR055 |
Adrenocortical Unresponsiveness to Acth with Postreceptor Defect |
10 |
| 660 |
|
OPH016 |
Ophthalmoplegia, Familial Static |
10 |
| 661 |
P
|
FML050 |
Familial Bilateral Striatal Necrosis |
10 |
| 662 |
c
|
CRY033 |
Cryofibrinogenemia, Familial Primary |
10 |
| 663 |
c
|
HYP799 |
Hypouricemia, Familial Renal, Due to Tubular Hypersecretion |
10 |
| 664 |
c
|
PTL011 |
Patella, Familial Recurrent Dislocation of |
9 |
| 665 |
c
|
HYP451 |
Hypertension, Essential 5 |
9 |
| 666 |
c
|
HYP454 |
Hypertension, Essential 8 |
9 |
| 667 |
c
|
KRT070 |
Keratosis, Familial Actinic |
9 |
| 668 |
|
FML336 |
Familial Patent Arterial Duct |
9 |
| 669 |
c
|
HYP453 |
Hypertension, Essential 7 |
9 |
| 670 |
c
|
FML094 |
Familial Wilms Tumor 2 |
9 |
| 671 |
|
FML202 |
Familial Alzheimer-Like Prion Disease |
9 |
| 672 |
|
ART142 |
Arteritis, Familial Granulomatous, with Juvenile Polyarthritis |
9 |
| 673 |
|
ANH005 |
Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands |
9 |
| 674 |
|
LMB070 |
Lumbar Stenosis, Familial |
9 |
| 675 |
|
CHR631 |
Choreoathetosis, Familial Inverted |
9 |
| 676 |
|
FML352 |
Familial Scaphocephaly Syndrome |
9 |
| 677 |
|
CRD227 |
Cardiac Lipidosis, Familial |
8 |
| 678 |
c
|
MRL006 |
Meralgia Paraesthetica, Familial |
8 |
| 679 |
|
OPH017 |
Ophthalmoplegia, Familial Total, with Iris Transillumination |
8 |
| 680 |
|
CHY007 |
Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase |
8 |
| 681 |
|
LGL002 |
Leg Ulcers, Familial, of Juvenile Onset |
8 |
| 682 |
|
DFN343 |
Deafness, Congenital, and Familial Myoclonic Epilepsy |
8 |
| 683 |
|
ALZ052 |
Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology |
8 |
| 684 |
c
|
ALK020 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 |
8 |
| 685 |
|
MSC143 |
Muscle Cramps, Familial |
8 |
| 686 |
|
CNV019 |
Convulsive Disorder, Familial, with Prenatal or Early Onset |
7 |
| 687 |
|
BNG066 |
Benign Familial Mesial Temporal Lobe Epilepsy |
7 |
| 688 |
|
EDM003 |
Edema, Familial Idiopathic, Prepubertal |
7 |
| 689 |
|
BND019 |
Bundle Branch Block, Familial Isolated Complete Right |
7 |
| 690 |
|
STT047 |
Setting-Sun Phenomenon, Familial Benign |
7 |
| 691 |
|
FML224 |
Familial Idiopathic Dilatation of the Right Atrium |
7 |
| 692 |
|
PCH021 |
Pachydermodactyly, Familial |
7 |
| 693 |
|
HST021 |
Histiocytosis, Familial Lipochrome |
7 |
| 694 |
|
MY5001 |
Myo5b-Related Progressive Familial Intrahepatic Cholestasis |
7 |
| 695 |
c
|
OBS847 |
Obsolete: Familial Articular Chondrocalcinosis Type 1 |
7 |
| 696 |
|
AZT005 |
Azotemia, Familial |
7 |
| 697 |
|
MCR339 |
Macrocytosis, Familial |
7 |
| 698 |
|
BLN022 |
Blue Nevi, Familial Multiple |
7 |
| 699 |
|
FML194 |
Familial Clubfoot with or Without Associated Lower Limb Anomalies |
7 |
| 700 |
c
|
BNG034 |
Benign Secondary Hypertension |
7 |
| 701 |
|
NSL026 |
Nasal Hyperpigmentation, Familial Transverse |
6 |
| 702 |
|
PRP095 |
Priapism, Familial Idiopathic |
6 |
| 703 |
|
URT053 |
Urticaria, Familial Localized Heat |
6 |
| 704 |
|
CRM011 |
Cramps, Familial Adolescent |
6 |
| 705 |
|
HYP694 |
Hyperreninemic Hypoaldosteronism, Familial, 2 |
6 |
| 706 |
P
|
OBS848 |
Obsolete: Familial Articular Chondrocalcinosis Type 2 |
6 |
| 707 |
c
|
JND003 |
Jaundice, Familial Obstructive, of Infancy |
6 |
| 708 |
|
BRD052 |
Broad Terminal Phalanges, Familial |
6 |
| 709 |
|
INS028 |
Insulin Receptors, Familial Increase in |
6 |
| 710 |
|
STR098 |
Striae Distensae, Familial |
6 |
| 711 |
c
|
ALK021 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 |
6 |
| 712 |
c
|
ALK022 |
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 |
6 |
| 713 |
|
MYK001 |
Myokymia with Neonatal Epilepsy |
6 |
| 714 |
|
CRY034 |
Cryptotia, Familial |
6 |
| 715 |
|
NSL025 |
Nasal Groove, Familial Transverse |
6 |
| 716 |
|
FVR001 |
Fever, Familial Lifelong Persistent |
6 |
| 717 |
|
BRC118 |
Brachial Palsy, Familial Congenital |
6 |
| 718 |
|
MCG001 |
Mcgillivray Syndrome |
6 |
| 719 |
|
XLN202 |
X-Linked Acrogigantism Due to a Point Mutation |
6 |
| 720 |
c
|
FML049 |
Familial Band Heterotopia |
5 |
| 721 |
|
FML051 |
Familial Capillaro-Venous Leptomeningeal Angiomatosis |
5 |
| 722 |
|
FRC004 |
Fara Chlupackova Syndrome |
5 |
| 723 |
|
ZRS001 |
Zori Stalker Williams Syndrome |
5 |
| 724 |
|
BNG060 |
Benign Non-Familial Infantile Seizures |
5 |
| 725 |
|
OBS165 |
Obsolete: Familial Intestinal Malrotation-Facial Anomalies Syndrome |
5 |
| 726 |
P
|
OBS266 |
Obsolete: Familial Restrictive Cardiomyopathy Type 3 |
5 |
| 727 |
|
FML216 |
Familial Isolated Clinodactyly of Fingers |
5 |
| 728 |
|
LSS038 |
Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia |
4 |
| 729 |
|
FML349 |
Familial Creutzfeld-Jakob Disease |
4 |
| 730 |
c
|
TTL014 |
Total Autosomal Monosomy |
4 |
| 731 |
|
ADL092 |
Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome |
4 |
| 732 |
|
FML356 |
Familial Primary Hypomagnesemia with Normocalcuria |
4 |
| 733 |
|
STL002 |
Stalker Chitayat Syndrome |
3 |
| 734 |
|
FML200 |
Familial Omphalocele Syndrome with Facial Dysmorphism |
3 |
| 735 |
|
FML074 |
Familial Interstitial Fibrosis |
3 |
| 736 |
|
OBS109 |
Obsolete: Familial Renal Cell Carcinoma |
3 |
| 737 |
|
OBS268 |
Obsolete: Familial Flecked Retinopathy |
3 |
| 738 |
|
MNG008 |
Monogenic Disease with Epilepsy |
3 |
| 739 |
|
IDP089 |
Idiopathic or Cryptogenic Familial Epilepsy Syndrome with Identified Loci/genes |
3 |
| 740 |
|
NNF004 |
Non-Familial Hypertrophic Cardiomyopathy |
3 |
| 741 |
|
RRG028 |
Rare Genetic Disease with Myoclonus As a Major Feature |
3 |
| 742 |
|
OBS561 |
Obsolete: Familial Segmental Neurofibromatosis |
3 |
| 743 |
|
OBS562 |
Obsolete: Familial Spinal Neurofibromatosis |
3 |
| 744 |
c
|
OBS836 |
Obsolete: Familial Restrictive Cardiomyopathy Type 2 |
3 |
| 745 |
|
OBS558 |
Obsolete: Familial Capillary Hemangioma |
2 |
| 746 |
|
OBS662 |
Obsolete: Familial Esophageal Achalasia |
2 |
| 747 |
|
OBS715 |
Obsolete: Unclassified Familial Retinal Dystrophy |
2 |
| 748 |
|
OBS833 |
Obsolete: Familial Pseudohyperkalemia Type 2 |
2 |
| 749 |
|
OBS834 |
Obsolete: Familial Pseudohyperkalemia, Cardiff Type |
2 |
| 750 |
c
|
FML226 |
Familial Dupuytren Contracture |
2 |
| 751 |
|
FML047 |
Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension |
1 |
| 752 |
P
|
DBT026 |
Diabetes Mellitus, Noninsulin-Dependent |
91 |
| 753 |
|
MYL069 |
Myeloma, Multiple |
85 |
| 754 |
P
|
HRT032 |
Heart Disease |
78 |
| 755 |
P
|
RTN008 |
Retinitis Pigmentosa |
77 |
| 756 |
P
|
LYN001 |
Lynch Syndrome |
77 |
| 757 |
c
|
TBR025 |
Tuberous Sclerosis 1 |
74 |
| 758 |
P
|
FML011 |
Familial Adenomatous Polyposis |
73 |
| 759 |
P
|
TBR001 |
Tuberous Sclerosis |
72 |
| 760 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
| 761 |
c
|
FML346 |
Familial Adenomatous Polyposis 1 |
71 |
| 762 |
c
|
PRM196 |
Premature Ovarian Failure 1 |
70 |
| 763 |
|
DWN001 |
Down Syndrome |
70 |
| 764 |
c
|
ATS007 |
Autism Spectrum Disorder |
69 |
| 765 |
c
|
TBR026 |
Tuberous Sclerosis 2 |
69 |
| 766 |
P
|
DMN001 |
Diamond-Blackfan Anemia |
69 |
| 767 |
P
|
INF038 |
Influenza |
69 |
| 768 |
P
|
FRG001 |
Fragile X Syndrome |
69 |
| 769 |
P
|
DBT085 |
Diabetes Mellitus, Insulin-Dependent |
68 |
| 770 |
P
|
LNG028 |
Long Qt Syndrome |
68 |
| 771 |
P
|
ATS364 |
Autism |
68 |
| 772 |
P
|
CRD224 |
Cardiofaciocutaneous Syndrome 1 |
68 |
| 773 |
P
|
SPR120 |
Supranuclear Palsy, Progressive, 1 |
68 |
| 774 |
P
|
CRN018 |
Coronary Artery Anomaly |
67 |
| 775 |
P
|
PRM011 |
Primary Ciliary Dyskinesia |
67 |
| 776 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
67 |
| 777 |
P
|
HLP001 |
Holoprosencephaly |
67 |
| 778 |
P
|
LBR001 |
Leber Congenital Amaurosis |
67 |
| 779 |
P
|
DBT009 |
Diabetes Mellitus |
66 |
| 780 |
P
|
CLC063 |
Celiac Disease 1 |
66 |
| 781 |
P
|
AGM001 |
Agammaglobulinemia |
66 |
| 782 |
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
66 |
| 783 |
P
|
NRB010 |
Neuroblastoma 1 |
66 |
| 784 |
P
|
CWD010 |
Cowden Syndrome |
66 |
| 785 |
|
ACH004 |
Achondroplasia |
66 |
| 786 |
P
|
CCK001 |
Cockayne Syndrome |
66 |
| 787 |
|
NRF026 |
Neurofibromatosis, Type Iv, of Riccardi |
65 |
| 788 |
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
65 |
| 789 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
65 |
| 790 |
P
|
LYS001 |
Loeys-Dietz Syndrome |
65 |
| 791 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
64 |
| 792 |
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
64 |
| 793 |
|
CNT061 |
Conotruncal Heart Malformations |
64 |
| 794 |
P
|
LPR002 |
Leopard Syndrome |
64 |
| 795 |
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
64 |
| 796 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
63 |
| 797 |
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
63 |
| 798 |
|
CHY002 |
Chylomicron Retention Disease |
63 |
| 799 |
P
|
ACR001 |
Aicardi-Goutieres Syndrome |
63 |
| 800 |
c
|
MNN047 |
Mannosidosis, Alpha B, Lysosomal |
63 |
| 801 |
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
63 |
| 802 |
P
|
EPL140 |
Epilepsy, Idiopathic Generalized |
62 |
| 803 |
P
|
EPL198 |
Epilepsy, Myoclonic Juvenile |
62 |
| 804 |
|
RTH001 |
Rothmund-Thomson Syndrome |
62 |
| 805 |
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
62 |
| 806 |
|
ACH043 |
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans |
62 |
| 807 |
P
|
CTR002 |
Cataract |
62 |
| 808 |
P
|
DST002 |
Distal Arthrogryposis |
61 |
| 809 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
61 |
| 810 |
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
61 |
| 811 |
P
|
PLY014 |
Polycystic Kidney Disease |
61 |
| 812 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
60 |
| 813 |
P
|
NMN002 |
Niemann-Pick Disease |
60 |
| 814 |
P
|
BRN022 |
Bronchiectasis |
60 |
| 815 |
P
|
CHL002 |
Childhood Absence Epilepsy |
60 |
| 816 |
P
|
PTN014 |
Patent Ductus Arteriosus 1 |
60 |
| 817 |
P
|
CRN108 |
Cranioectodermal Dysplasia 1 |
60 |
| 818 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
60 |
| 819 |
|
HYP810 |
Hypereosinophilic Syndrome, Idiopathic |
60 |
| 820 |
P
|
MLG056 |
Malignant Hyperthermia |
60 |
| 821 |
|
MLT092 |
Multicentric Carpotarsal Osteolysis Syndrome |
60 |
| 822 |
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
60 |
| 823 |
c
|
DWL002 |
Dowling-Degos Disease 1 |
59 |
| 824 |
P
|
CRN300 |
Coronary Heart Disease 1 |
59 |
| 825 |
|
HJD001 |
Hajdu-Cheney Syndrome |
59 |
| 826 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
| 827 |
c
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
59 |
| 828 |
P
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
59 |
| 829 |
|
DNH001 |
Donohue Syndrome |
59 |
| 830 |
|
DBT087 |
Diabetes Insipidus, Neurohypophyseal |
59 |
| 831 |
P
|
WLF004 |
Wolfram Syndrome |
58 |
| 832 |
P
|
PRP029 |
Porphyria |
58 |
| 833 |
|
CYC010 |
Cyclic Neutropenia |
58 |
| 834 |
P
|
ALC033 |
Alcohol Use Disorder |
58 |
| 835 |
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
58 |
| 836 |
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
58 |
| 837 |
P
|
INF037 |
Inflammatory Bowel Disease |
57 |
| 838 |
|
CFF002 |
Coffin-Lowry Syndrome |
57 |
| 839 |
P
|
SCK004 |
Seckel Syndrome |
57 |
| 840 |
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
56 |
| 841 |
|
DYS192 |
Dystonia, Dopa-Responsive |
56 |
| 842 |
c
|
WLF013 |
Wolfram Syndrome 1 |
56 |
| 843 |
c
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
56 |
| 844 |
P
|
BRT004 |
Bartter Disease |
56 |
| 845 |
P
|
MLT007 |
Multiple Epiphyseal Dysplasia |
56 |
| 846 |
c
|
LBR014 |
Leber Congenital Amaurosis 4 |
55 |
| 847 |
c
|
FRS014 |
Fraser Syndrome 1 |
55 |
| 848 |
|
ANN002 |
Anencephaly |
55 |
| 849 |
|
ACY009 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of |
55 |
| 850 |
P
|
DRR001 |
Diarrhea |
55 |
| 851 |
P
|
TRM003 |
Tremor |
55 |
| 852 |
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
| 853 |
P
|
LFT003 |
Left Ventricular Noncompaction |
55 |
| 854 |
|
ARS001 |
Aarskog-Scott Syndrome |
54 |
| 855 |
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
54 |
| 856 |
P
|
FBR031 |
Febrile Seizures |
54 |
| 857 |
P
|
CNG010 |
Congenital Stationary Night Blindness |
54 |
| 858 |
P
|
BRC006 |
Brachydactyly |
54 |
| 859 |
c
|
BRC078 |
Brachydactyly, Type A1 |
54 |
| 860 |
c
|
TLN006 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
54 |
| 861 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
54 |
| 862 |
|
ENC067 |
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis |
54 |
| 863 |
P
|
WLL002 |
Weill-Marchesani Syndrome |
54 |
| 864 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
54 |
| 865 |
P
|
PRS049 |
Persistent Mullerian Duct Syndrome |
53 |
| 866 |
P
|
EPL116 |
Epileptic Encephalopathy, Childhood-Onset |
53 |
| 867 |
c
|
ACR116 |
Aicardi-Goutieres Syndrome 1 |
53 |
| 868 |
P
|
MYM013 |
Moyamoya Disease 1 |
53 |
| 869 |
P
|
MRG008 |
Meier-Gorlin Syndrome 1 |
53 |
| 870 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
53 |
| 871 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
53 |
| 872 |
P
|
VSC013 |
Visceral Heterotaxy |
53 |
| 873 |
P
|
STC001 |
Stickler Syndrome |
53 |
| 874 |
c
|
CNG412 |
Congenital Disorder of Glycosylation, Type Ii |
52 |
| 875 |
|
INS023 |
Insensitivity to Pain, Congenital, with Anhidrosis |
52 |
| 876 |
|
GLC012 |
Galactosialidosis |
52 |
| 877 |
|
BRL010 |
Buruli Ulcer |
52 |
| 878 |
c
|
ANT077 |
Anterior Segment Dysgenesis 1 |
51 |
| 879 |
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
51 |
| 880 |
c
|
BRC051 |
Brachydactyly, Type B1 |
51 |
| 881 |
P
|
PRK001 |
Porokeratosis |
51 |
| 882 |
|
SZR026 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance |
51 |
| 883 |
c
|
CNR007 |
Cone-Rod Dystrophy 6 |
51 |
| 884 |
P
|
NML001 |
Nemaline Myopathy |
51 |
| 885 |
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
51 |
| 886 |
c
|
XNT010 |
Xanthinuria, Type I |
51 |
| 887 |
|
GLS018 |
Glass Syndrome |
51 |
| 888 |
|
GLB021 |
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies |
51 |
| 889 |
P
|
KRT007 |
Keratoconus |
51 |
| 890 |
|
DYG001 |
Dyggve-Melchior-Clausen Disease |
51 |
| 891 |
P
|
THY054 |
Thyrotoxic Periodic Paralysis |
51 |
| 892 |
c
|
OTS014 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
51 |
| 893 |
c
|
EHL078 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
50 |
| 894 |
P
|
NNT009 |
Neonatal Diabetes Mellitus |
50 |
| 895 |
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
50 |
| 896 |
P
|
46X052 |
46,xx Sex Reversal 1 |
50 |
| 897 |
P
|
HRD012 |
Hereditary Elliptocytosis |
50 |
| 898 |
|
OCL008 |
Oculopharyngeal Muscular Dystrophy |
50 |
| 899 |
P
|
ECT042 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 |
50 |
| 900 |
P
|
OPT048 |
Opitz-Gbbb Syndrome |
50 |
| 901 |
P
|
CRN276 |
Corneal Endothelial Dystrophy |
50 |
| 902 |
|
MLT134 |
Multiple Pterygium Syndrome, Lethal Type |
50 |
| 903 |
|
NRL018 |
Neural Tube Defects, Folate-Sensitive |
50 |
| 904 |
P
|
PRX021 |
Proximal Symphalangism |
49 |
| 905 |
c
|
SHR075 |
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly |
49 |
| 906 |
|
ATS010 |
Autosomal Recessive Disease |
49 |
| 907 |
c
|
WRB002 |
Warburg Micro Syndrome 1 |
49 |
| 908 |
c
|
SPL067 |
Split-Hand/foot Malformation 1 |
49 |
| 909 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
48 |
| 910 |
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
48 |
| 911 |
c
|
NML003 |
Nemaline Myopathy 2 |
48 |
| 912 |
c
|
NML002 |
Nemaline Myopathy 1 |
48 |
| 913 |
c
|
FNC045 |
Fanconi Anemia, Complementation Group F |
48 |
| 914 |
P
|
CHR637 |
Choroidal Dystrophy, Central Areolar, 1 |
48 |
| 915 |
P
|
AML002 |
Amelogenesis Imperfecta |
48 |
| 916 |
c
|
CCK007 |
Cockayne Syndrome B |
48 |
| 917 |
P
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
48 |
| 918 |
|
IFP001 |
Ifap Syndrome with or Without Bresheck Syndrome |
48 |
| 919 |
c
|
OPT050 |
Opitz Gbbb Syndrome, Type Ii |
48 |
| 920 |
|
HYP801 |
Hyperferritinemia with or Without Cataract |
48 |
| 921 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
48 |
| 922 |
c
|
BRC079 |
Brachydactyly, Type A2 |
47 |
| 923 |
c
|
RTN177 |
Retinitis Pigmentosa 73 |
47 |
| 924 |
c
|
SCK009 |
Seckel Syndrome 1 |
47 |
| 925 |
P
|
OTS002 |
Otospondylomegaepiphyseal Dysplasia |
47 |
| 926 |
P
|
SMP003 |
Simpson-Golabi-Behmel Syndrome |
47 |
| 927 |
c
|
FNC028 |
Fanconi Anemia, Complementation Group L |
47 |
| 928 |
|
RPP001 |
Rapp-Hodgkin Syndrome |
47 |
| 929 |
c
|
SHR068 |
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly |
47 |
| 930 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
47 |
| 931 |
P
|
HYP828 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
47 |
| 932 |
P
|
MTH007 |
Methemoglobinemia |
47 |
| 933 |
P
|
JVN007 |
Juvenile Absence Epilepsy |
47 |
| 934 |
P
|
SDR003 |
Sideroblastic Anemia |
47 |
| 935 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
47 |
| 936 |
|
HYP791 |
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate |
46 |
| 937 |
c
|
ECT100 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 |
46 |
| 938 |
P
|
KLP003 |
Klippel-Feil Syndrome |
46 |
| 939 |
c
|
NNN010 |
Noonan Syndrome 3 |
46 |
| 940 |
|
MYP151 |
Myopathy, Congenital, Bailey-Bloch |
46 |
| 941 |
c
|
BRC109 |
Brachydactyly, Type E1 |
46 |
| 942 |
|
ALV007 |
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
46 |
| 943 |
c
|
OPT051 |
Opitz Gbbb Syndrome, Type I |
46 |
| 944 |
P
|
PRD037 |
Periodontal Ehlers-Danlos Syndrome |
45 |
| 945 |
c
|
FNC032 |
Fanconi Anemia, Complementation Group B |
45 |
| 946 |
P
|
JVN008 |
Juvenile Glaucoma |
45 |
| 947 |
c
|
HMC009 |
Hemochromatosis Type 2 |
45 |
| 948 |
P
|
MSC022 |
Mosaic Variegated Aneuploidy Syndrome |
45 |
| 949 |
c
|
TRC091 |
Trichorhinophalangeal Syndrome, Type Ii |
45 |
| 950 |
P
|
BCT020 |
Bacteremia 2 |
45 |
| 951 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
45 |
| 952 |
c
|
PRS128 |
Persistent Mullerian Duct Syndrome, Types I and Ii |
45 |
| 953 |
P
|
ANX007 |
Anauxetic Dysplasia 1 |
45 |
| 954 |
c
|
PRM038 |
Primary Agammaglobulinemia |
45 |
| 955 |
c
|
RTN142 |
Retinitis Pigmentosa 38 |
45 |
| 956 |
|
SND002 |
Sneddon Syndrome |
45 |
| 957 |
P
|
ATS406 |
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 |
45 |
| 958 |
c
|
MSC109 |
Mosaic Variegated Aneuploidy Syndrome 1 |
45 |
| 959 |
|
CRN041 |
Carnitine-Acylcarnitine Translocase Deficiency |
45 |
| 960 |
P
|
CRN013 |
Craniodiaphyseal Dysplasia |
45 |
| 961 |
c
|
CTR098 |
Cataract 1, Multiple Types |
45 |
| 962 |
|
GLC084 |
Glaucoma, Normal Tension |
44 |
| 963 |
P
|
ATR066 |
Atrial Septal Defect 2 |
44 |
| 964 |
c
|
HLP023 |
Holoprosencephaly 1 |
44 |
| 965 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
44 |
| 966 |
c
|
FNC046 |
Fanconi Anemia, Complementation Group P |
44 |
| 967 |
c
|
NML004 |
Nemaline Myopathy 3 |
44 |
| 968 |
|
PLY068 |
Polysubstance Abuse |
44 |
| 969 |
|
SHP005 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
44 |
| 970 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
44 |
| 971 |
P
|
PRT042 |
Parietal Foramina |
44 |
| 972 |
c
|
BRC052 |
Brachydactyly, Type B2 |
44 |
| 973 |
c
|
ATS307 |
Autosomal Recessive Cerebellar Ataxia |
44 |
| 974 |
c
|
HLP026 |
Holoprosencephaly 3 |
43 |
| 975 |
|
ANG060 |
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps |
43 |
| 976 |
|
PST049 |
Postaxial Acrofacial Dysostosis |
43 |
| 977 |
c
|
PRG130 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 |
43 |
| 978 |
|
HYP550 |
Hypomagnesemia 1, Intestinal |
43 |
| 979 |
|
ASP005 |
Asphyxiating Thoracic Dystrophy |
43 |
| 980 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
43 |
| 981 |
P
|
CRB154 |
Cerebrocostomandibular Syndrome |
43 |
| 982 |
c
|
HYP575 |
Hypotrichosis 7 |
43 |
| 983 |
|
RST023 |
Resting Heart Rate, Variation in |
43 |
| 984 |
P
|
PRC031 |
Preeclampsia/eclampsia 1 |
42 |
| 985 |
c
|
HLP029 |
Holoprosencephaly 4 |
42 |
| 986 |
c
|
RTS003 |
Ritscher-Schinzel Syndrome 1 |
42 |
| 987 |
c
|
VTL009 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
42 |
| 988 |
P
|
DWL001 |
Dowling-Degos Disease |
42 |
| 989 |
P
|
STR092 |
Striatal Degeneration, Autosomal Dominant 2 |
42 |
| 990 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
42 |
| 991 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
42 |
| 992 |
|
HSD004 |
Hsd10 Mitochondrial Disease |
42 |
| 993 |
c
|
JBR024 |
Joubert Syndrome 14 |
42 |
| 994 |
c
|
BRC081 |
Brachydactyly, Type C |
42 |
| 995 |
P
|
DYS005 |
Dyslexia |
42 |
| 996 |
c
|
BRC060 |
Brachydactyly, Type E2 |
42 |
| 997 |
P
|
SPL061 |
Split Hand-Foot Malformation |
42 |
| 998 |
P
|
MLT072 |
Multiple Synostoses Syndrome |
41 |
| 999 |
|
MYH012 |
Myhre Syndrome |
41 |
| 1000 |
c
|
FNC057 |
Fanconi Anemia, Complementation Group U |
41 |
| 1001 |
|
HYP540 |
Hypertension, Diastolic |
41 |
| 1002 |
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
41 |
| 1003 |
c
|
RTN090 |
Retinitis Pigmentosa 55 |
41 |
| 1004 |
c
|
MTR021 |
Maturity-Onset Diabetes of the Young, Type 4 |
41 |
| 1005 |
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
41 |
| 1006 |
P
|
CND005 |
Cone Dystrophy |
41 |
| 1007 |
c
|
FNC023 |
Fanconi Anemia, Complementation Group N |
41 |
| 1008 |
c
|
INF063 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
41 |
| 1009 |
P
|
ANT088 |
Anterior Segment Dysgenesis |
41 |
| 1010 |
c
|
HYP543 |
Hypoplastic Left Heart Syndrome 1 |
41 |
| 1011 |
|
ACR043 |
Acromicric Dysplasia |
41 |
| 1012 |
c
|
CRN146 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
41 |
| 1013 |
c
|
PRK082 |
Porokeratosis 1, Multiple Types |
41 |
| 1014 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
41 |
| 1015 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
41 |
| 1016 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
41 |
| 1017 |
P
|
RRH023 |
Rare Hereditary Hemochromatosis |
41 |
| 1018 |
P
|
MCR124 |
Microphthalmia, Isolated 1 |
40 |
| 1019 |
c
|
STC013 |
Stickler Syndrome, Type Ii |
40 |
| 1020 |
c
|
HYP829 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
40 |
| 1021 |
c
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
40 |
| 1022 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
40 |
| 1023 |
|
CRN212 |
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome |
40 |
| 1024 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
40 |
| 1025 |
c
|
RTN047 |
Retinitis Pigmentosa 18 |
40 |
| 1026 |
|
INT258 |
Interstitial Nephritis, Karyomegalic |
40 |
| 1027 |
c
|
RTN055 |
Retinitis Pigmentosa 26 |
40 |
| 1028 |
c
|
RTN058 |
Retinitis Pigmentosa 3 |
40 |
| 1029 |
|
CRB081 |
Cerebellar Ataxia, Cayman Type |
40 |
| 1030 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
40 |
| 1031 |
c
|
EPL133 |
Epilepsy, Juvenile Absence 1 |
40 |
| 1032 |
c
|
TRN038 |
Transposition of the Great Arteries, Dextro-Looped 1 |
40 |
| 1033 |
|
MCR237 |
Macrocephaly/megalencephaly Syndrome, Autosomal Recessive |
40 |
| 1034 |
c
|
NML005 |
Nemaline Myopathy 4 |
40 |
| 1035 |
c
|
GLL038 |
Galloway-Mowat Syndrome 1 |
40 |
| 1036 |
P
|
UVS001 |
Uv-Sensitive Syndrome |
40 |
| 1037 |
c
|
HYP847 |
Hyper Ige Recurrent Infection Syndrome 1 |
40 |
| 1038 |
c
|
ATR031 |
Atrial Septal Defect 4 |
39 |
| 1039 |
P
|
PST059 |
Pustular Psoriasis |
39 |
| 1040 |
|
CRB142 |
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant |
39 |
| 1041 |
P
|
MCR364 |
Macrodactyly |
39 |
| 1042 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
39 |
| 1043 |
P
|
XNT004 |
Xanthinuria |
39 |
| 1044 |
|
MGL003 |
Megalocornea |
39 |
| 1045 |
c
|
SYS043 |
Systemic Lupus Erythematosus 1 |
39 |
| 1046 |
|
PLY062 |
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy |
39 |
| 1047 |
|
HTR014 |
Heterotaxy, Visceral, 1, X-Linked |
39 |
| 1048 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
39 |
| 1049 |
|
MTC029 |
Mitochondrial Complex V Deficiency, Nuclear Type 1 |
39 |
| 1050 |
P
|
CRN233 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
39 |
| 1051 |
c
|
RTN186 |
Retinitis Pigmentosa 75 |
39 |
| 1052 |
c
|
EHL071 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
39 |
| 1053 |
|
AST052 |
Asthma, Nasal Polyps, and Aspirin Intolerance |
39 |
| 1054 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
39 |
| 1055 |
c
|
RTN143 |
Retinitis Pigmentosa 47 |
39 |
| 1056 |
c
|
RTN043 |
Retinitis Pigmentosa 13 |
38 |
| 1057 |
P
|
BRT040 |
Baraitser-Winter Syndrome |
38 |
| 1058 |
|
MYP153 |
Myopathy, Myofibrillar, 9, with Early Respiratory Failure |
38 |
| 1059 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
38 |
| 1060 |
c
|
SPL024 |
Split-Hand/foot Malformation 3 |
38 |
| 1061 |
c
|
MCK030 |
Meckel Syndrome, Type 7 |
38 |
| 1062 |
|
RGD002 |
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal |
38 |
| 1063 |
P
|
DYS023 |
Dyschromatosis Universalis Hereditaria |
38 |
| 1064 |
c
|
NML006 |
Nemaline Myopathy 5 |
38 |
| 1065 |
c
|
NNN024 |
Noonan Syndrome 9 |
38 |
| 1066 |
c
|
INF092 |
Inflammatory Bowel Disease 9 |
38 |
| 1067 |
c
|
CTR103 |
Cataract 4, Multiple Types |
38 |
| 1068 |
P
|
HRD144 |
Hereditary Mixed Polyposis Syndrome |
38 |
| 1069 |
P
|
HNN005 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
38 |
| 1070 |
c
|
WRB005 |
Warburg Micro Syndrome 4 |
38 |
| 1071 |
c
|
ACT004 |
Acute Diarrhea |
38 |
| 1072 |
|
EPT021 |
Epithelial Recurrent Erosion Dystrophy |
38 |
| 1073 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
38 |
| 1074 |
c
|
CTR132 |
Cataract 3, Multiple Types |
38 |
| 1075 |
c
|
DYS067 |
Dystonia 6, Torsion |
38 |
| 1076 |
P
|
BRN076 |
Bronchiectasis with or Without Elevated Sweat Chloride 1 |
38 |
| 1077 |
|
OGD001 |
Ogden Syndrome |
38 |
| 1078 |
|
CLC008 |
Colchicine Resistance |
38 |
| 1079 |
c
|
RTN048 |
Retinitis Pigmentosa 19 |
38 |
| 1080 |
c
|
WRD024 |
Waardenburg Syndrome, Type 4c |
38 |
| 1081 |
P
|
WRB001 |
Warburg Micro Syndrome |
38 |
| 1082 |
|
DSN001 |
De Sanctis-Cacchione Syndrome |
38 |
| 1083 |
|
ATM052 |
Autoimmune Disease 1 |
38 |
| 1084 |
c
|
EPP012 |
Epiphyseal Dysplasia, Multiple, 2 |
38 |
| 1085 |
P
|
CRB188 |
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy |
37 |
| 1086 |
P
|
INC029 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 |
37 |
| 1087 |
c
|
AGM024 |
Agammaglobulinemia 5, Autosomal Dominant |
37 |
| 1088 |
|
SRC015 |
Sarcosinemia |
37 |
| 1089 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
37 |
| 1090 |
|
ALG027 |
Al-Gazali-Bakalinova Syndrome |
37 |
| 1091 |
P
|
OVR075 |
Ovarian Dysgenesis 1 |
37 |
| 1092 |
|
CRT045 |
Creatine Phosphokinase, Elevated Serum |
37 |
| 1093 |
|
CMP089 |
Complement Component 6 Deficiency |
37 |
| 1094 |
|
CRP035 |
Corpus Callosum, Partial Agenesis of, X-Linked |
37 |
| 1095 |
c
|
RTN050 |
Retinitis Pigmentosa 20 |
37 |
| 1096 |
c
|
MTR075 |
Maturity-Onset Diabetes of the Young, Type 13 |
37 |
| 1097 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
37 |
| 1098 |
c
|
SPL070 |
Split-Hand/foot Malformation 2 |
37 |
| 1099 |
c
|
LBR007 |
Leber Congenital Amaurosis 12 |
37 |
| 1100 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
36 |
| 1101 |
c
|
CND011 |
Cone Dystrophy 3 |
36 |
| 1102 |
c
|
XNT011 |
Xanthinuria, Type Ii |
36 |
| 1103 |
c
|
GRN038 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii |
36 |
| 1104 |
c
|
WLF009 |
Wolfram Syndrome 2 |
36 |
| 1105 |
c
|
WRB003 |
Warburg Micro Syndrome 2 |
36 |
| 1106 |
c
|
SPL034 |
Split-Hand/foot Malformation 4 |
36 |
| 1107 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
36 |
| 1108 |
|
OLV004 |
Oliver-Mcfarlane Syndrome |
36 |
| 1109 |
|
GRN055 |
Granular Corneal Dystrophy |
36 |
| 1110 |
c
|
WLL037 |
Weill-Marchesani Syndrome 2 |
36 |
| 1111 |
c
|
DYS149 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
36 |
| 1112 |
P
|
FNC026 |
Fanconi Renotubular Syndrome 1 |
36 |
| 1113 |
|
FRG008 |
Fragile X-Associated Tremor/ataxia Syndrome |
36 |
| 1114 |
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
36 |
| 1115 |
c
|
LBR005 |
Leber Congenital Amaurosis 10 |
36 |
| 1116 |
c
|
LBR013 |
Leber Congenital Amaurosis 3 |
36 |
| 1117 |
c
|
RTN131 |
Retinitis Pigmentosa 27 |
36 |
| 1118 |
P
|
ENC056 |
Encephalopathy, Acute, Infection-Induced 4 |
36 |
| 1119 |
P
|
BSL038 |
Basal Ganglia Calcification, Idiopathic, 1 |
36 |
| 1120 |
c
|
RTN133 |
Retinitis Pigmentosa 43 |
36 |
| 1121 |
c
|
ALZ063 |
Alzheimer's Disease 1 |
36 |
| 1122 |
c
|
HTR021 |
Heterotaxy, Visceral, 5, Autosomal |
35 |
| 1123 |
c
|
ELL005 |
Elliptocytosis 2 |
35 |
| 1124 |
c
|
RTN062 |
Retinitis Pigmentosa 33 |
35 |
| 1125 |
c
|
HLP028 |
Holoprosencephaly 5 |
35 |
| 1126 |
P
|
OTF004 |
Otofaciocervical Syndrome 1 |
35 |
| 1127 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
35 |
| 1128 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
35 |
| 1129 |
c
|
RTN136 |
Retinitis Pigmentosa 44 |
35 |
| 1130 |
c
|
ATR022 |
Atrial Septal Defect 3 |
35 |
| 1131 |
c
|
AGM013 |
Agammaglobulinemia 1, Autosomal Recessive |
35 |
| 1132 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
35 |
| 1133 |
c
|
EHL075 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
35 |
| 1134 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
35 |
| 1135 |
c
|
HYP606 |
Hypokalemic Periodic Paralysis, Type 2 |
35 |
| 1136 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
35 |
| 1137 |
c
|
INF089 |
Inflammatory Bowel Disease 6 |
35 |
| 1138 |
|
SPN331 |
Spondyloocular Syndrome |
35 |
| 1139 |
c
|
RTN134 |
Retinitis Pigmentosa 40 |
35 |
| 1140 |
c
|
CTR174 |
Cataract 40 |
35 |
| 1141 |
|
CHR346 |
Chromosome 22q11.2 Deletion Syndrome, Distal |
35 |
| 1142 |
c
|
CTR115 |
Cataract 16, Multiple Types |
35 |
| 1143 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
35 |
| 1144 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
35 |
| 1145 |
c
|
MYP106 |
Myopathy, Myosin Storage, Autosomal Recessive |
35 |
| 1146 |
c
|
CNR023 |
Cone-Rod Dystrophy 8 |
35 |
| 1147 |
c
|
NNN020 |
Noonan Syndrome 7 |
34 |
| 1148 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
34 |
| 1149 |
c
|
PRK071 |
Parkinson Disease 14, Autosomal Recessive |
34 |
| 1150 |
c
|
GLM025 |
Glioma Susceptibility 2 |
34 |
| 1151 |
c
|
SPL025 |
Split-Hand/foot Malformation 5 |
34 |
| 1152 |
|
ANT042 |
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis |
34 |
| 1153 |
c
|
SMP005 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
34 |
| 1154 |
|
CMB008 |
Combined Oxidative Phosphorylation Deficiency |
34 |
| 1155 |
c
|
RTN165 |
Retinitis Pigmentosa 68 |
34 |
| 1156 |
c
|
ALZ050 |
Alzheimer Disease 5 |
34 |
| 1157 |
c
|
CTR145 |
Cataract 44 |
34 |
| 1158 |
c
|
HMC034 |
Hemochromatosis, Type 5 |
34 |
| 1159 |
P
|
MTP005 |
Metaphyseal Anadysplasia |
34 |
| 1160 |
c
|
INF086 |
Inflammatory Bowel Disease 3 |
34 |
| 1161 |
c
|
CCK003 |
Cockayne Syndrome Type Ii |
34 |
| 1162 |
|
PYR012 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
34 |
| 1163 |
|
ALP095 |
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
34 |
| 1164 |
c
|
FNC062 |
Fanconi Anemia, Complementation Group S |
34 |
| 1165 |
c
|
GLM047 |
Glioma Susceptibility 3 |
34 |
| 1166 |
|
CMP040 |
Complement Component 4, Partial Deficiency of |
34 |
| 1167 |
c
|
PRT059 |
Parietal Foramina 1 |
34 |
| 1168 |
|
SPN251 |
Spondyloenchondrodysplasia with Immune Dysregulation |
34 |
| 1169 |
P
|
ZMM001 |
Zimmermann-Laband Syndrome |
34 |
| 1170 |
c
|
RTN152 |
Retinitis Pigmentosa 66 |
34 |
| 1171 |
c
|
RTN067 |
Retinitis Pigmentosa 41 |
34 |
| 1172 |
c
|
ELL006 |
Elliptocytosis 3 |
34 |
| 1173 |
|
NGL001 |
Naegeli-Franceschetti-Jadassohn Syndrome |
33 |
| 1174 |
c
|
PLM127 |
Pulmonary Hypertension, Primary, 3 |
33 |
| 1175 |
c
|
ATR062 |
Atrial Septal Defect 1 |
33 |
| 1176 |
P
|
LTT001 |
Lattice Corneal Dystrophy |
33 |
| 1177 |
P
|
CHR084 |
Chromosomal Disease |
33 |
| 1178 |
c
|
KRT029 |
Keratoconus 1 |
33 |
| 1179 |
c
|
EPL209 |
Epilepsy, Idiopathic Generalized 10 |
33 |
| 1180 |
c
|
ACQ047 |
Acquired Methemoglobinemia |
33 |
| 1181 |
c
|
WLL036 |
Weill-Marchesani Syndrome 1 |
33 |
| 1182 |
|
BLR030 |
Bilirubin, Serum Level of, Quantitative Trait Locus 1 |
33 |
| 1183 |
c
|
CRN109 |
Cranioectodermal Dysplasia 2 |
33 |
| 1184 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
33 |
| 1185 |
P
|
DXT004 |
Dextro-Looped Transposition of the Great Arteries |
33 |
| 1186 |
c
|
WLF011 |
Wolfram-Like Syndrome, Autosomal Dominant |
33 |
| 1187 |
c
|
RTN056 |
Retinitis Pigmentosa 28 |
33 |
| 1188 |
|
PRT094 |
Protoporphyria, Erythropoietic, X-Linked |
33 |
| 1189 |
c
|
CCK002 |
Cockayne Syndrome Type I |
33 |
| 1190 |
c
|
NGH007 |
Night Blindness, Congenital Stationary, Type 1b |
33 |
| 1191 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
33 |
| 1192 |
c
|
NGH025 |
Night Blindness, Congenital Stationary, Type 2a |
33 |
| 1193 |
c
|
46X049 |
46,xy Sex Reversal 2 |
33 |
| 1194 |
c
|
WLL040 |
Weill-Marchesani Syndrome 4 |
33 |
| 1195 |
P
|
INV008 |
Invasive Pneumococcal Disease, Recurrent Isolated, 1 |
33 |
| 1196 |
|
MYP093 |
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset |
33 |
| 1197 |
|
CHR390 |
Chromosome 14q11-Q22 Deletion Syndrome |
33 |
| 1198 |
c
|
ENC060 |
Encephalopathy, Acute, Infection-Induced 1 |
33 |
| 1199 |
c
|
HRD142 |
Hereditary Xanthinuria |
33 |
| 1200 |
c
|
ACR081 |
Aicardi-Goutieres Syndrome 6 |
33 |
| 1201 |
c
|
RTN129 |
Retinitis Pigmentosa 49 |
32 |
| 1202 |
c
|
RTN059 |
Retinitis Pigmentosa 30 |
32 |
| 1203 |
|
MST021 |
Meester-Loeys Syndrome |
32 |
| 1204 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
32 |
| 1205 |
c
|
EHL084 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
32 |
| 1206 |
|
MYP035 |
Myopathy, Distal, with Anterior Tibial Onset |
32 |
| 1207 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
32 |
| 1208 |
|
ALZ030 |
Alazami Syndrome |
32 |
| 1209 |
|
ALR002 |
Al-Raqad Syndrome |
32 |
| 1210 |
c
|
PRT134 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
32 |
| 1211 |
c
|
BRC062 |
Brachydactyly, Type D |
32 |
| 1212 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
32 |
| 1213 |
c
|
THY084 |
Thyrotoxic Periodic Paralysis 1 |
32 |
| 1214 |
|
CRN238 |
Corneal Dystrophy, Epithelial Basement Membrane |
32 |
| 1215 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
32 |
| 1216 |
|
MTP028 |
Metaphyseal Dysplasia, Spahr Type |
32 |
| 1217 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
32 |
| 1218 |
c
|
BRG006 |
Brugada Syndrome 2 |
32 |
| 1219 |
c
|
DRR009 |
Diarrhea 6 |
32 |
| 1220 |
|
HYD007 |
Hydrophthalmos |
32 |
| 1221 |
c
|
JVN024 |
Juvenile Hereditary Hemochromatosis |
32 |
| 1222 |
c
|
LBR015 |
Leber Congenital Amaurosis 5 |
32 |
| 1223 |
c
|
BTH006 |
Bethlem Myopathy 2 |
32 |
| 1224 |
|
INC022 |
Inclusion-Cell Disease |
32 |
| 1225 |
c
|
INF088 |
Inflammatory Bowel Disease 5 |
32 |
| 1226 |
c
|
RRD013 |
Rare Diabetes Mellitus Type 2 |
32 |
| 1227 |
|
HYP823 |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome |
32 |
| 1228 |
|
BMB001 |
Bombay Phenotype |
32 |
| 1229 |
c
|
RTN169 |
Retinitis Pigmentosa 70 |
31 |
| 1230 |
|
VCT005 |
Vacterl Association, X-Linked, with or Without Hydrocephalus |
31 |
| 1231 |
|
CHN019 |
Chand Syndrome |
31 |
| 1232 |
c
|
ELL010 |
Elliptocytosis 1 |
31 |
| 1233 |
|
MLC004 |
Mulchandani-Bhoj-Conlin Syndrome |
31 |
| 1234 |
|
MYP071 |
Myopathy Due to Myoadenylate Deaminase Deficiency |
31 |
| 1235 |
|
ATX039 |
Ataxia-Pancytopenia Syndrome |
31 |
| 1236 |
c
|
CRN133 |
Coronary Artery Disease, Autosomal Dominant, 1 |
31 |
| 1237 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
31 |
| 1238 |
P
|
MYP105 |
Myopathy, Myosin Storage, Autosomal Dominant |
31 |
| 1239 |
P
|
ATX033 |
Ataxia-Oculomotor Apraxia 4 |
31 |
| 1240 |
|
DBT020 |
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans |
31 |
| 1241 |
c
|
RTN052 |
Retinitis Pigmentosa 23 |
31 |
| 1242 |
c
|
EPL072 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
31 |
| 1243 |
c
|
SHR104 |
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly |
31 |
| 1244 |
c
|
RTN051 |
Retinitis Pigmentosa 22 |
31 |
| 1245 |
|
GLL035 |
Gillessen-Kaesbach-Nishimura Syndrome |
31 |
| 1246 |
P
|
RTS001 |
Ritscher-Schinzel Syndrome |
31 |
| 1247 |
c
|
AMY111 |
Amyloidosis, Primary Localized Cutaneous, 3 |
31 |
| 1248 |
|
CLR132 |
Colorblindness, Partial, Deutan Series |
31 |
| 1249 |
c
|
INF087 |
Inflammatory Bowel Disease 4 |
31 |
| 1250 |
|
MYS057 |
Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency |
31 |
| 1251 |
c
|
HYP562 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
31 |
| 1252 |
c
|
RTN116 |
Retinitis Pigmentosa 56 |
31 |
| 1253 |
|
SLT005 |
Solitary Median Maxillary Central Incisor |
31 |
| 1254 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
31 |
| 1255 |
c
|
HYP515 |
Hypotrichosis 3 |
31 |
| 1256 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
31 |
| 1257 |
|
LSC003 |
Luscan-Lumish Syndrome |
31 |
| 1258 |
c
|
GLY057 |
Glycogen Storage Disease X |
31 |
| 1259 |
c
|
ERY062 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
31 |
| 1260 |
c
|
DSB005 |
Desbuquois Dysplasia 2 |
30 |
| 1261 |
c
|
THY083 |
Thyrotoxic Periodic Paralysis 2 |
30 |
| 1262 |
c
|
ATS314 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
30 |
| 1263 |
c
|
RTN141 |
Retinitis Pigmentosa 39 |
30 |
| 1264 |
c
|
MCR137 |
Microphthalmia, Isolated 2 |
30 |
| 1265 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
30 |
| 1266 |
c
|
DBT040 |
Diabetes Mellitus, Insulin-Dependent, 2 |
30 |
| 1267 |
c
|
RTN114 |
Retinitis Pigmentosa 58 |
30 |
| 1268 |
|
CRT069 |
Cortical Malformations, Occipital |
30 |
| 1269 |
c
|
EPL096 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
30 |
| 1270 |
c
|
BRT039 |
Baraitser-Winter Syndrome 2 |
30 |
| 1271 |
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
30 |
| 1272 |
c
|
NGH010 |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 |
30 |
| 1273 |
c
|
ATS076 |
Autosomal Recessive Stickler Syndrome |
30 |
| 1274 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
30 |
| 1275 |
|
CHT006 |
Chitayat Syndrome |
30 |
| 1276 |
c
|
GLP004 |
Geleophysic Dysplasia 2 |
30 |
| 1277 |
|
SPC026 |
Specific Granule Deficiency 1 |
30 |
| 1278 |
c
|
EHL083 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
30 |
| 1279 |
|
TRN074 |
Turnpenny-Fry Syndrome |
30 |
| 1280 |
|
CRB137 |
Cerebral Creatine Deficiency Syndrome |
30 |
| 1281 |
c
|
FML299 |
Familial Adenomatous Polyposis 3 |
30 |
| 1282 |
P
|
NYS017 |
Nystagmus 1, Congenital, X-Linked |
30 |
| 1283 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
30 |
| 1284 |
c
|
RTN160 |
Retinitis Pigmentosa 60 |
30 |
| 1285 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
30 |
| 1286 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
30 |
| 1287 |
P
|
VNM004 |
Van Maldergem Syndrome |
30 |
| 1288 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
30 |
| 1289 |
c
|
HTR010 |
Heterotaxy, Visceral, 4, Autosomal |
30 |
| 1290 |
c
|
MSC106 |
Mosaic Variegated Aneuploidy Syndrome 2 |
30 |
| 1291 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
30 |
| 1292 |
|
EXT064 |
Extraoral Halitosis Due to Methanethiol Oxidase Deficiency |
30 |
| 1293 |
c
|
ALC016 |
Alcohol Sensitivity, Acute |
30 |
| 1294 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
30 |
| 1295 |
c
|
SHR071 |
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly |
29 |
| 1296 |
|
ACR096 |
Acromesomelic Dysplasia, Demirhan Type |
29 |
| 1297 |
c
|
STR040 |
Stargardt Disease 3 |
29 |
| 1298 |
c
|
MYP088 |
Myopathy, Tubular Aggregate, 2 |
29 |
| 1299 |
c
|
HRD146 |
Hereditary Methemoglobinemia |
29 |
| 1300 |
c
|
JBR031 |
Joubert Syndrome 21 |
29 |
| 1301 |
P
|
DMN043 |
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis |
29 |
| 1302 |
P
|
CRN249 |
Cornea Plana |
29 |
| 1303 |
|
STC017 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
29 |
| 1304 |
c
|
GLM043 |
Glioma Susceptibility 9 |
29 |
| 1305 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
29 |
| 1306 |
c
|
TYP027 |
Type 1 Diabetes Mellitus 10 |
29 |
| 1307 |
c
|
INF078 |
Inflammatory Bowel Disease 2 |
29 |
| 1308 |
c
|
USH031 |
Usher Syndrome, Type Ij |
29 |
| 1309 |
c
|
KBK003 |
Kabuki Syndrome 2 |
29 |
| 1310 |
c
|
KLP007 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
29 |
| 1311 |
|
ALZ029 |
Alzheimer Disease Mitochondrial |
29 |
| 1312 |
c
|
HLP025 |
Holoprosencephaly 9 |
29 |
| 1313 |
|
PRT101 |
Poretti-Boltshauser Syndrome |
29 |
| 1314 |
c
|
PRG094 |
Paragangliomas 5 |
29 |
| 1315 |
c
|
CWD008 |
Cowden Syndrome 6 |
29 |
| 1316 |
c
|
TYP032 |
Type 1 Diabetes Mellitus 6 |
29 |
| 1317 |
c
|
SYN061 |
Syndactyly, Type Iv |
29 |
| 1318 |
|
RTN212 |
Retinal Dystrophy with or Without Macular Staphyloma |
29 |
| 1319 |
c
|
HYP843 |
Hypoalphalipoproteinemia, Primary, 2 |
29 |
| 1320 |
|
MYC071 |
Myoclonic-Atonic Epilepsy |
29 |
| 1321 |
|
ALK023 |
Al Kaissi Syndrome |
29 |
| 1322 |
|
XLN228 |
X-Linked Recessive Disease |
29 |
| 1323 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
29 |
| 1324 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
29 |
| 1325 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
29 |
| 1326 |
c
|
PLM128 |
Pulmonary Hypertension, Primary, 2 |
29 |
| 1327 |
c
|
EPL200 |
Epilepsy, Childhood Absence 1 |
29 |
| 1328 |
|
SZR027 |
Seizures, Cortical Blindness, and Microcephaly Syndrome |
29 |
| 1329 |
c
|
CTR095 |
Cataract 8, Multiple Types |
29 |
| 1330 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
29 |
| 1331 |
c
|
CRN215 |
Cornelia De Lange Syndrome 4 |
28 |
| 1332 |
c
|
MLG151 |
Malignant Hyperthermia 5 |
28 |
| 1333 |
c
|
JBR013 |
Joubert Syndrome 8 |
28 |
| 1334 |
|
SPN391 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
28 |
| 1335 |
c
|
JBR016 |
Joubert Syndrome 10 |
28 |
| 1336 |
|
DSN002 |
Desanto-Shinawi Syndrome |
28 |
| 1337 |
c
|
ATS371 |
Autism 6 |
28 |
| 1338 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
28 |
| 1339 |
c
|
LSS009 |
Lissencephaly 3 |
28 |
| 1340 |
c
|
GLL040 |
Galloway-Mowat Syndrome 3 |
28 |
| 1341 |
c
|
DRR018 |
Diarrhea 9 |
28 |
| 1342 |
c
|
STR101 |
Striatal Degeneration, Autosomal Dominant 1 |
28 |
| 1343 |
c
|
EPL195 |
Epileptic Encephalopathy, Early Infantile, 53 |
28 |
| 1344 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
28 |
| 1345 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
28 |
| 1346 |
c
|
RTN057 |
Retinitis Pigmentosa 29 |
28 |
| 1347 |
c
|
CND012 |
Cone Dystrophy 4 |
28 |
| 1348 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
28 |
| 1349 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
28 |
| 1350 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
28 |
| 1351 |
c
|
OVR076 |
Ovarian Dysgenesis 2 |
28 |
| 1352 |
c
|
NNS043 |
Nonsyndromic Retinitis Pigmentosa |
28 |
| 1353 |
c
|
CTR175 |
Cataract 24 |
28 |
| 1354 |
|
CMP087 |
Complement Component 7 Deficiency |
28 |
| 1355 |
c
|
SYN060 |
Syndactyly, Type Iii |
28 |
| 1356 |
|
STR099 |
Striatonigral Degeneration, Infantile, Mitochondrial |
28 |
| 1357 |
|
MTR001 |
Mature Cataract |
28 |
| 1358 |
|
MYP120 |
Myopathy, Distal, with Rimmed Vacuoles |
28 |
| 1359 |
|
RNL118 |
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness |
28 |
| 1360 |
c
|
CTR166 |
Cataract 33, Multiple Types |
28 |
| 1361 |
c
|
RTN068 |
Retinitis Pigmentosa 6 |
28 |
| 1362 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
28 |
| 1363 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
28 |
| 1364 |
c
|
46X048 |
46,xx Sex Reversal 2 |
28 |
| 1365 |
c
|
INF002 |
Inflammatory Diarrhea |
28 |
| 1366 |
c
|
INF064 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
28 |
| 1367 |
c
|
CLR066 |
Ciliary Dyskinesia, Primary, 2 |
28 |
| 1368 |
c
|
TYP035 |
Type 1 Diabetes Mellitus 11 |
28 |
| 1369 |
c
|
NML007 |
Nemaline Myopathy 6 |
28 |
| 1370 |
c
|
FRN033 |
Frontonasal Dysplasia 2 |
28 |
| 1371 |
c
|
RTN106 |
Retinitis Pigmentosa 51 |
28 |
| 1372 |
|
CMB044 |
Combined Oxidative Phosphorylation Deficiency 14 |
28 |
| 1373 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
28 |
| 1374 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
28 |
| 1375 |
P
|
SHR085 |
Short-Rib Thoracic Dysplasia 14 with Polydactyly |
28 |
| 1376 |
c
|
NGH027 |
Night Blindness, Congenital Stationary, Type 1c |
28 |
| 1377 |
c
|
PRK052 |
Parkinson Disease 17 |
28 |
| 1378 |
|
PRX090 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy |
28 |
| 1379 |
c
|
MCK028 |
Meckel Syndrome 13 |
28 |
| 1380 |
c
|
PRT060 |
Parietal Foramina 2 |
28 |
| 1381 |
c
|
3MT021 |
3-Methylglutaconic Aciduria, Type Viii |
28 |
| 1382 |
c
|
CRN120 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
27 |
| 1383 |
c
|
EPL134 |
Epilepsy, Progressive Myoclonic 7 |
27 |
| 1384 |
c
|
OCL047 |
Oculodentodigital Dysplasia, Autosomal Recessive |
27 |
| 1385 |
|
VSD001 |
Vas Deferens, Congenital Bilateral Aplasia of, X-Linked |
27 |
| 1386 |
c
|
HYP518 |
Hypogonadotropic Hypogonadism 16 with or Without Anosmia |
27 |
| 1387 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
27 |
| 1388 |
c
|
HLP027 |
Holoprosencephaly 7 |
27 |
| 1389 |
c
|
HYP531 |
Hypogonadotropic Hypogonadism 4 with or Without Anosmia |
27 |
| 1390 |
c
|
HYP577 |
Hypotrichosis 13 |
27 |
| 1391 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
27 |
| 1392 |
c
|
CRN174 |
Coronary Heart Disease 2 |
27 |
| 1393 |
c
|
EPL210 |
Epilepsy, Progressive Myoclonic, 6 |
27 |
| 1394 |
c
|
TRC073 |
Treacher Collins Syndrome 2 |
27 |
| 1395 |
c
|
HYP552 |
Hypogonadotropic Hypogonadism 6 with or Without Anosmia |
27 |
| 1396 |
c
|
CLR094 |
Ciliary Dyskinesia, Primary, 28 |
27 |
| 1397 |
c
|
RTN060 |
Retinitis Pigmentosa 31 |
27 |
| 1398 |
c
|
SHR100 |
Short-Rib Thoracic Dysplasia 15 with Polydactyly |
27 |
| 1399 |
c
|
CLR114 |
Ciliary Dyskinesia, Primary, 30 |
27 |
| 1400 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
27 |
| 1401 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
27 |
| 1402 |
c
|
TYP037 |
Type 1 Diabetes Mellitus 13 |
27 |
| 1403 |
c
|
TYP033 |
Type 1 Diabetes Mellitus 7 |
27 |
| 1404 |
P
|
TRG016 |
Trigonocephaly 1 |
27 |
| 1405 |
|
ECT033 |
Ectopia Lentis Et Pupillae |
27 |
| 1406 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
27 |
| 1407 |
c
|
CTR158 |
Cataract 37 |
27 |
| 1408 |
c
|
HYP523 |
Hypogonadotropic Hypogonadism 14 with or Without Anosmia |
27 |
| 1409 |
c
|
ATS376 |
Autism 15 |
27 |
| 1410 |
|
SPN328 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
27 |
| 1411 |
|
CRD220 |
Cardiac Valvular Defect, Developmental |
27 |
| 1412 |
c
|
ATS210 |
Autosomal Recessive Sideroblastic Anemia |
27 |
| 1413 |
c
|
TYP028 |
Type 1 Diabetes Mellitus 2 |
27 |
| 1414 |
|
CMP093 |
Complement Component 8 Deficiency, Type I |
27 |
| 1415 |
c
|
INF075 |
Inflammatory Bowel Disease 16 |
27 |
| 1416 |
c
|
USH030 |
Usher Syndrome, Type Ik |
27 |
| 1417 |
c
|
MYP107 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 |
27 |
| 1418 |
c
|
PRR026 |
Perrault Syndrome 5 |
27 |
| 1419 |
c
|
AGM021 |
Agammaglobulinemia 2, Autosomal Recessive |
27 |
| 1420 |
c
|
CRN135 |
Cornelia De Lange Syndrome 3 |
27 |
| 1421 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
27 |
| 1422 |
c
|
LBR010 |
Leber Congenital Amaurosis 15 |
27 |
| 1423 |
c
|
RTN190 |
Retinitis Pigmentosa 76 |
27 |
| 1424 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
27 |
| 1425 |
c
|
HLP016 |
Holoprosencephaly 11 |
27 |
| 1426 |
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
27 |
| 1427 |
c
|
RTN140 |
Retinitis Pigmentosa 67 |
27 |
| 1428 |
c
|
EPL172 |
Epileptic Encephalopathy, Early Infantile, 42 |
27 |
| 1429 |
c
|
PRG128 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 |
27 |
| 1430 |
c
|
LBR029 |
Leber Congenital Amaurosis 17 |
27 |
| 1431 |
c
|
ENC061 |
Encephalopathy, Acute, Infection-Induced 2 |
27 |
| 1432 |
c
|
FBR050 |
Fibrosis of Extraocular Muscles, Congenital, 2 |
27 |
| 1433 |
c
|
HYP522 |
Hypogonadotropic Hypogonadism 11 with or Without Anosmia |
27 |
| 1434 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
27 |
| 1435 |
c
|
EPL173 |
Epileptic Encephalopathy, Early Infantile, 47 |
27 |
| 1436 |
|
MLR020 |
Malaria, Mild |
27 |
| 1437 |
c
|
SCH081 |
Schizophrenia 6 |
27 |
| 1438 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
27 |
| 1439 |
c
|
EPL151 |
Epileptic Encephalopathy, Early Infantile, 31 |
27 |
| 1440 |
|
CNG437 |
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay |
27 |
| 1441 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
26 |
| 1442 |
c
|
MRG010 |
Meier-Gorlin Syndrome 3 |
26 |
| 1443 |
c
|
DBT093 |
Diabetes Mellitus, Noninsulin-Dependent, 1 |
26 |
| 1444 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
26 |
| 1445 |
c
|
DYS172 |
Dystonia 27 |
26 |
| 1446 |
c
|
CLR125 |
Ciliary Dyskinesia, Primary, 33 |
26 |
| 1447 |
c
|
RTN085 |
Retinitis Pigmentosa 54 |
26 |
| 1448 |
c
|
CRN111 |
Cranioectodermal Dysplasia 4 |
26 |
| 1449 |
c
|
PTN012 |
Patent Ductus Arteriosus 3 |
26 |
| 1450 |
P
|
MYP108 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
26 |
| 1451 |
c
|
PRK075 |
Porokeratosis 7, Multiple Types |
26 |
| 1452 |
c
|
KLP008 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
26 |
| 1453 |
c
|
HYP514 |
Hypogonadotropic Hypogonadism 8 with or Without Anosmia |
26 |
| 1454 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
26 |
| 1455 |
c
|
AGM022 |
Agammaglobulinemia 3, Autosomal Recessive |
26 |
| 1456 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
26 |
| 1457 |
|
3MC004 |
3mc Syndrome 3 |
26 |
| 1458 |
c
|
46X030 |
46,xy Sex Reversal 9 |
26 |
| 1459 |
c
|
HYP532 |
Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
26 |
| 1460 |
c
|
HYP549 |
Hypogonadotropic Hypogonadism 5 with or Without Anosmia |
26 |
| 1461 |
c
|
DBT054 |
Diabetes Mellitus, Insulin-Dependent, 24 |
26 |
| 1462 |
c
|
CLR095 |
Ciliary Dyskinesia, Primary, 19 |
26 |
| 1463 |
|
CHR391 |
Chromosome 15q24 Deletion Syndrome |
26 |
| 1464 |
c
|
CTR180 |
Cataract 22, Multiple Types |
26 |
| 1465 |
c
|
CLR042 |
Ciliary Dyskinesia, Primary, 6 |
26 |
| 1466 |
c
|
TYP031 |
Type 1 Diabetes Mellitus 5 |
26 |
| 1467 |
|
HMX003 |
Heme Oxygenase 1 Deficiency |
26 |
| 1468 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
26 |
| 1469 |
c
|
FML339 |
Familial Adenomatous Polyposis 4 |
26 |
| 1470 |
c
|
46X017 |
46,xy Sex Reversal 6 |
26 |
| 1471 |
c
|
CWD004 |
Cowden Syndrome 5 |
26 |
| 1472 |
c
|
INF090 |
Inflammatory Bowel Disease 7 |
26 |
| 1473 |
c
|
HTR009 |
Heterotaxy, Visceral, 2, Autosomal |
26 |
| 1474 |
c
|
GLL027 |
Gallbladder Disease 4 |
26 |
| 1475 |
c
|
EPL028 |
Epileptic Encephalopathy, Early Infantile, 5 |
26 |
| 1476 |
c
|
TLN008 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
26 |
| 1477 |
|
INS034 |
Insulinomatosis and Diabetes Mellitus |
26 |
| 1478 |
c
|
SNR004 |
Senior-Loken Syndrome 4 |
26 |
| 1479 |
c
|
CNR032 |
Cone-Rod Dystrophy 21 |
26 |
| 1480 |
c
|
TRC100 |
Trichothiodystrophy 3, Photosensitive |
26 |
| 1481 |
c
|
CRN110 |
Cranioectodermal Dysplasia 3 |
26 |
| 1482 |
c
|
DMN006 |
Diamond-Blackfan Anemia 3 |
26 |
| 1483 |
c
|
CLR097 |
Ciliary Dyskinesia, Primary, 23 |
26 |
| 1484 |
c
|
CRD163 |
Cardiofaciocutaneous Syndrome 2 |
26 |
| 1485 |
|
GLT028 |
Glutaric Aciduria Iii |
26 |
| 1486 |
c
|
WRB004 |
Warburg Micro Syndrome 3 |
26 |
| 1487 |
c
|
MRG015 |
Meier-Gorlin Syndrome 7 |
26 |
| 1488 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
26 |
| 1489 |
|
PRT130 |
Protein Z Deficiency |
26 |
| 1490 |
c
|
RTN213 |
Retinitis Pigmentosa 80 |
26 |
| 1491 |
c
|
CLR123 |
Ciliary Dyskinesia, Primary, 37 |
26 |
| 1492 |
|
FCT032 |
Factor Xiii, a Subunit, Deficiency of |
26 |
| 1493 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
26 |
| 1494 |
c
|
EPL099 |
Epileptic Encephalopathy, Early Infantile, 15 |
26 |
| 1495 |
c
|
CLR117 |
Ciliary Dyskinesia, Primary, 32 |
25 |
| 1496 |
c
|
BRN128 |
Branchiootic Syndrome 3 |
25 |
| 1497 |
|
SPN358 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
25 |
| 1498 |
c
|
CFF011 |
Coffin-Siris Syndrome 6 |
25 |
| 1499 |
c
|
DYS121 |
Dyslexia 1 |
25 |
| 1500 |
c
|
DMN022 |
Diamond-Blackfan Anemia 9 |
25 |
| 1501 |
c
|
WLL038 |
Weill-Marchesani Syndrome 3 |
25 |
| 1502 |
c
|
CNG223 |
Congenital Methemoglobinemia |
25 |
| 1503 |
c
|
BRC099 |
Brachydactyly, Type A4 |
25 |
| 1504 |
c
|
HYP546 |
Hypogonadotropic Hypogonadism 20 with or Without Anosmia |
25 |
| 1505 |
c
|
RTN053 |
Retinitis Pigmentosa 24 |
25 |
| 1506 |
c
|
MCL038 |
Macular Degeneration, Age-Related, 4 |
25 |
| 1507 |
c
|
HYP817 |
Hypogonadotropic Hypogonadism 21 with or Without Anosmia |
25 |
| 1508 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
25 |
| 1509 |
c
|
CRS017 |
Crisponi/cold-Induced Sweating Syndrome 2 |
25 |
| 1510 |
c
|
ATS168 |
Autosomal Dominant Congenital Stationary Night Blindness |
25 |
| 1511 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
25 |
| 1512 |
|
CMB049 |
Combined Oxidative Phosphorylation Deficiency 17 |
25 |
| 1513 |
c
|
CRN214 |
Coronary Heart Disease 5 |
25 |
| 1514 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
25 |
| 1515 |
c
|
MCR109 |
Microphthalmia, Isolated 4 |
25 |
| 1516 |
c
|
PRM089 |
Premature Ovarian Failure 3 |
25 |
| 1517 |
c
|
PRM254 |
Premature Ovarian Failure 11 |
25 |
| 1518 |
|
MLT150 |
Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia |
25 |
| 1519 |
c
|
CTR116 |
Cataract 15, Multiple Types |
25 |
| 1520 |
|
AML014 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
25 |
| 1521 |
c
|
DYS139 |
Dyschromatosis Universalis Hereditaria 3 |
25 |
| 1522 |
c
|
HML035 |
Hemolytic Uremic Syndrome, Atypical 2 |
25 |
| 1523 |
c
|
TRG015 |
Trigonocephaly 2 |
25 |
| 1524 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
25 |
| 1525 |
P
|
NNP011 |
Nanophthalmos 2 |
25 |
| 1526 |
c
|
CLR116 |
Ciliary Dyskinesia, Primary, 29 |
25 |
| 1527 |
P
|
CRT085 |
Carotid Intimal Medial Thickness 2 |
25 |
| 1528 |
c
|
ALT007 |
Alternating Hemiplegia of Childhood 2 |
25 |
| 1529 |
c
|
ANM033 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
25 |
| 1530 |
c
|
HYP557 |
Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
25 |
| 1531 |
c
|
DMN019 |
Diamond-Blackfan Anemia 4 |
25 |
| 1532 |
c
|
JBR043 |
Joubert Syndrome 32 |
25 |
| 1533 |
|
CHR381 |
Chromosome 17q23.1-Q23.2 Deletion Syndrome |
25 |
| 1534 |
c
|
SYS038 |
Systemic Lupus Erythematosus 2 |
25 |
| 1535 |
c
|
SHR115 |
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly |
25 |
| 1536 |
P
|
KYP005 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
25 |
| 1537 |
c
|
FRS016 |
Fraser Syndrome 2 |
25 |
| 1538 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
25 |
| 1539 |
c
|
CWD009 |
Cowden Syndrome 7 |
25 |
| 1540 |
c
|
MLT141 |
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly |
25 |
| 1541 |
P
|
ADP010 |
Adiponectin, Serum Level of, Quantitative Trait Locus 1 |
25 |
| 1542 |
c
|
PRC045 |
Preeclampsia/eclampsia 5 |
25 |
| 1543 |
c
|
HYP820 |
Hypogonadotropic Hypogonadism 22 with or Without Anosmia |
25 |
| 1544 |
c
|
NNN027 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 |
25 |
| 1545 |
|
MYP073 |
Myopia, High, with Cataract and Vitreoretinal Degeneration |
25 |
| 1546 |
c
|
XLN065 |
X-Linked Infantile Nystagmus |
25 |
| 1547 |
c
|
CRN220 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
25 |
| 1548 |
c
|
TTH012 |
Tooth Agenesis, Selective, 3 |
25 |
| 1549 |
|
DYS190 |
Dystonia 28, Childhood-Onset |
25 |
| 1550 |
c
|
SPN307 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
25 |
| 1551 |
c
|
PRR021 |
Perrault Syndrome 4 |
25 |
| 1552 |
c
|
AML047 |
Amelogenesis Imperfecta, Type Ia |
25 |
| 1553 |
c
|
TYP003 |
Type I Ehlers-Danlos Syndrome |
25 |
| 1554 |
c
|
HML034 |
Hemolytic Uremic Syndrome, Atypical 3 |
25 |
| 1555 |
c
|
CLR098 |
Ciliary Dyskinesia, Primary, 27 |
25 |
| 1556 |
c
|
RTN065 |
Retinitis Pigmentosa 36 |
25 |
| 1557 |
c
|
HYP576 |
Hypotrichosis 4 |
25 |
| 1558 |
c
|
TRC071 |
Treacher Collins Syndrome 3 |
25 |
| 1559 |
c
|
CLR104 |
Ciliary Dyskinesia, Primary, 15 |
25 |
| 1560 |
c
|
MGL028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
25 |
| 1561 |
|
MCR365 |
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 |
25 |
| 1562 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
25 |
| 1563 |
c
|
MRG011 |
Meier-Gorlin Syndrome 4 |
24 |
| 1564 |
c
|
CRD167 |
Cardiofaciocutaneous Syndrome 4 |
24 |
| 1565 |
|
MCR327 |
Microcephaly, Short Stature, and Limb Abnormalities |
24 |
| 1566 |
|
CHR366 |
Chromosome 5p13 Duplication Syndrome |
24 |
| 1567 |
|
NWF001 |
Newfoundland Rod-Cone Dystrophy |
24 |
| 1568 |
c
|
JBR040 |
Joubert Syndrome 30 |
24 |
| 1569 |
c
|
ART102 |
Arterial Calcification, Generalized, of Infancy, 2 |
24 |
| 1570 |
c
|
DBT034 |
Diabetes Mellitus, Insulin-Dependent, 20 |
24 |
| 1571 |
P
|
MCL058 |
Macular Degeneration, Early-Onset |
24 |
| 1572 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
24 |
| 1573 |
c
|
CRN160 |
Corneal Dystrophy, Lattice Type Iiia |
24 |
| 1574 |
c
|
TRM024 |
Tremor, Hereditary Essential, 1 |
24 |
| 1575 |
c
|
CTR131 |
Cataract 17, Multiple Types |
24 |
| 1576 |
|
CHN045 |
Chondrodysplasia with Joint Dislocations, Gpapp Type |
24 |
| 1577 |
|
MTC149 |
Mitochondrial Complex I Deficiency, Mitochondrial Type 1 |
24 |
| 1578 |
|
STR093 |
Striatonigral Degeneration, Childhood-Onset |
24 |
| 1579 |
c
|
ATS370 |
Autism 3 |
24 |
| 1580 |
|
AML013 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
24 |
| 1581 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
24 |
| 1582 |
c
|
DMN020 |
Diamond-Blackfan Anemia 8 |
24 |
| 1583 |
c
|
CTR182 |
Cataract 23, Multiple Types |
24 |
| 1584 |
c
|
EPL139 |
Epileptic Encephalopathy, Early Infantile, 28 |
24 |
| 1585 |
c
|
DYS090 |
Dyschromatosis Universalis Hereditaria 1 |
24 |
| 1586 |
c
|
CLR068 |
Ciliary Dyskinesia, Primary, 5 |
24 |
| 1587 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
24 |
| 1588 |
c
|
HYP443 |
Hypogonadotropic Hypogonadism 13 with or Without Anosmia |
24 |
| 1589 |
c
|
HMC019 |
Hemochromatosis, Type 2b |
24 |
| 1590 |
c
|
CLR140 |
Ciliary Dyskinesia, Primary, 40 |
24 |
| 1591 |
c
|
CTR111 |
Cataract 36 |
24 |
| 1592 |
|
MCR253 |
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma |
24 |
| 1593 |
|
FBR097 |
Fibrosis, Neurodegeneration, and Cerebral Angiomatosis |
24 |
| 1594 |
c
|
JBR037 |
Joubert Syndrome 26 |
24 |
| 1595 |
c
|
MLT142 |
Multiple Epiphyseal Dysplasia, Autosomal Dominant |
24 |
| 1596 |
|
CMB071 |
Combined Oxidative Phosphorylation Deficiency 27 |
24 |
| 1597 |
|
SDH011 |
Sedoheptulokinase Deficiency |
24 |
| 1598 |
c
|
CTR124 |
Cataract 10, Multiple Types |
24 |
| 1599 |
c
|
DYS185 |
Dystonia 13, Torsion, Autosomal Dominant |
24 |
| 1600 |
c
|
EPL212 |
Epileptic Encephalopathy, Infantile or Early Childhood, 1 |
24 |
| 1601 |
c
|
AGM023 |
Agammaglobulinemia 4, Autosomal Recessive |
24 |
| 1602 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
24 |
| 1603 |
c
|
CLR091 |
Ciliary Dyskinesia, Primary, 14 |
24 |
| 1604 |
c
|
BRN075 |
Bronchiectasis with or Without Elevated Sweat Chloride 2 |
24 |
| 1605 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
| 1606 |
c
|
LPR007 |
Leopard Syndrome 3 |
24 |
| 1607 |
c
|
CHR449 |
Choroidal Dystrophy, Central Areolar 2 |
24 |
| 1608 |
|
ACT240 |
Actn3 Deficiency |
24 |
| 1609 |
c
|
AGM020 |
Agammaglobulinemia 6, Autosomal Recessive |
24 |
| 1610 |
|
HRS016 |
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction |
24 |
| 1611 |
|
KRT074 |
Keratoendotheliitis Fugax Hereditaria |
24 |
| 1612 |
c
|
MLG148 |
Malignant Hyperthermia 2 |
24 |
| 1613 |
c
|
MYM003 |
Moyamoya Disease 5 |
24 |
| 1614 |
c
|
ERL003 |
Early Onset Absence Epilepsy |
24 |
| 1615 |
c
|
CLR099 |
Ciliary Dyskinesia, Primary, 16 |
24 |
| 1616 |
|
CMB043 |
Combined Oxidative Phosphorylation Deficiency 9 |
24 |
| 1617 |
c
|
CRD164 |
Cardiofaciocutaneous Syndrome 3 |
24 |
| 1618 |
c
|
EPL156 |
Epileptic Encephalopathy, Early Infantile, 33 |
24 |
| 1619 |
c
|
MCK026 |
Meckel Syndrome 12 |
24 |
| 1620 |
c
|
ARC011 |
Auriculocondylar Syndrome 2 |
24 |
| 1621 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
24 |
| 1622 |
c
|
CLR092 |
Ciliary Dyskinesia, Primary, 18 |
24 |
| 1623 |
c
|
EPL175 |
Epileptic Encephalopathy, Early Infantile, 43 |
24 |
| 1624 |
c
|
SCH053 |
Schizophrenia 13 |
24 |
| 1625 |
c
|
DMN005 |
Diamond-Blackfan Anemia 2 |
24 |
| 1626 |
c
|
NGH028 |
Night Blindness, Congenital Stationary, Type 1d |
24 |
| 1627 |
c
|
ATS169 |
Autosomal Recessive Congenital Stationary Night Blindness |
24 |
| 1628 |
c
|
CTR105 |
Cataract 12, Multiple Types |
24 |
| 1629 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
24 |
| 1630 |
c
|
46X047 |
46,xy Sex Reversal 7 |
24 |
| 1631 |
c
|
CNR012 |
Cone-Rod Dystrophy 11 |
24 |
| 1632 |
c
|
OTF003 |
Otofaciocervical Syndrome 2 |
24 |
| 1633 |
c
|
CNR026 |
Cone-Rod Dystrophy 18 |
24 |
| 1634 |
|
GRW027 |
Growth Restriction, Severe, with Distinctive Facies |
24 |
| 1635 |
c
|
AGM015 |
Agammaglobulinemia 7, Autosomal Recessive |
24 |
| 1636 |
c
|
FNC061 |
Fanconi Anemia, Complementation Group W |
24 |
| 1637 |
c
|
PRK070 |
Parkinson Disease 21 |
24 |
| 1638 |
c
|
CLR105 |
Ciliary Dyskinesia, Primary, 20 |
24 |
| 1639 |
c
|
RTN147 |
Retinitis Pigmentosa 48 |
24 |
| 1640 |
c
|
PRC034 |
Preeclampsia/eclampsia 4 |
24 |
| 1641 |
c
|
EPL211 |
Epileptic Encephalopathy, Early Infantile, 56 |
24 |
| 1642 |
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
23 |
| 1643 |
c
|
MRG009 |
Meier-Gorlin Syndrome 2 |
23 |
| 1644 |
c
|
HML032 |
Hemolytic Uremic Syndrome, Atypical 4 |
23 |
| 1645 |
c
|
BRT049 |
Bartter Syndrome, Type 5, Antenatal, Transient |
23 |
| 1646 |
c
|
WSK002 |
Wiskott-Aldrich Syndrome 2 |
23 |
| 1647 |
c
|
EPL125 |
Epileptic Encephalopathy, Early Infantile, 24 |
23 |
| 1648 |
c
|
RTS002 |
Ritscher-Schinzel Syndrome 2 |
23 |
| 1649 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
23 |
| 1650 |
c
|
SNR007 |
Senior-Loken Syndrome 7 |
23 |
| 1651 |
c
|
MRG014 |
Meier-Gorlin Syndrome 6 |
23 |
| 1652 |
c
|
CNG478 |
Congenital Diarrhea |
23 |
| 1653 |
|
ACT133 |
Acetylation, Slow |
23 |
| 1654 |
c
|
SHR113 |
Short-Rib Thoracic Dysplasia 18 with Polydactyly |
23 |
| 1655 |
c
|
DYS068 |
Dystonia 7, Torsion |
23 |
| 1656 |
c
|
CTR110 |
Cataract 26, Multiple Types |
23 |
| 1657 |
c
|
GLP007 |
Geleophysic Dysplasia 3 |
23 |
| 1658 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
23 |
| 1659 |
|
CHR379 |
Chromosome 15q26-Qter Deletion Syndrome |
23 |
| 1660 |
c
|
EHL086 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
23 |
| 1661 |
c
|
CLR059 |
Ciliary Dyskinesia, Primary, 13 |
23 |
| 1662 |
c
|
CNG404 |
Congenital Heart Defects, Multiple Types, 4 |
23 |
| 1663 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
23 |
| 1664 |
c
|
SCH045 |
Schizophrenia 12 |
23 |
| 1665 |
c
|
HML037 |
Hemolytic Uremic Syndrome, Atypical 5 |
23 |
| 1666 |
c
|
TYP036 |
Type 1 Diabetes Mellitus 12 |
23 |
| 1667 |
c
|
NML021 |
Nemaline Myopathy 9 |
23 |
| 1668 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
23 |
| 1669 |
|
MTC152 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
23 |
| 1670 |
|
RHN013 |
Rh-Null, Regulator Type |
23 |
| 1671 |
c
|
HYP833 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
23 |
| 1672 |
|
SRN001 |
Serine Deficiency |
23 |
| 1673 |
c
|
DWL003 |
Dowling-Degos Disease 2 |
23 |
| 1674 |
c
|
HTR018 |
Heterotaxy, Visceral, 7, Autosomal |
23 |
| 1675 |
c
|
EPL084 |
Epilepsy, Idiopathic Generalized 11 |
23 |
| 1676 |
c
|
CLR102 |
Ciliary Dyskinesia, Primary, 17 |
23 |
| 1677 |
c
|
CTR183 |
Cataract 38 |
23 |
| 1678 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
23 |
| 1679 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
23 |
| 1680 |
c
|
RTN144 |
Retinitis Pigmentosa 61 |
23 |
| 1681 |
c
|
CRN143 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
23 |
| 1682 |
c
|
EPL153 |
Epileptic Encephalopathy, Early Infantile, 29 |
23 |
| 1683 |
c
|
GLL041 |
Galloway-Mowat Syndrome 4 |
23 |
| 1684 |
c
|
CFF006 |
Coffin-Siris Syndrome 5 |
23 |
| 1685 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
23 |
| 1686 |
c
|
MYP116 |
Myopathy, Distal, 5 |
23 |
| 1687 |
c
|
RTN192 |
Retinitis Pigmentosa 77 |
23 |
| 1688 |
c
|
HTR023 |
Heterotaxy, Visceral, 6, Autosomal |
23 |
| 1689 |
c
|
RTN180 |
Retinitis Pigmentosa 74 |
23 |
| 1690 |
c
|
DYS120 |
Dyslexia 2 |
23 |
| 1691 |
c
|
GLL046 |
Galloway-Mowat Syndrome 7 |
23 |
| 1692 |
c
|
HLP022 |
Holoprosencephaly 8 |
23 |
| 1693 |
c
|
PRM207 |
Premature Ovarian Failure 10 |
23 |
| 1694 |
c
|
DBT038 |
Diabetes Mellitus, Insulin-Dependent, 5 |
23 |
| 1695 |
c
|
EPL205 |
Epilepsy, Idiopathic Generalized 13 |
23 |
| 1696 |
P
|
RTN102 |
Retinitis Pigmentosa, Y-Linked |
23 |
| 1697 |
c
|
UVS005 |
Uv-Sensitive Syndrome 1 |
23 |
| 1698 |
c
|
OVR107 |
Ovarian Dysgenesis 4 |
23 |
| 1699 |
c
|
SCK037 |
Seckel Syndrome 9 |
23 |
| 1700 |
c
|
DBT094 |
Diabetes Mellitus, Insulin-Dependent, 10 |
23 |
| 1701 |
c
|
JBR047 |
Joubert Syndrome 35 |
23 |
| 1702 |
c
|
EPL222 |
Epileptic Encephalopathy, Early Infantile, 63 |
23 |
| 1703 |
c
|
LPR011 |
Leopard Syndrome 2 |
23 |
| 1704 |
c
|
CLR107 |
Ciliary Dyskinesia, Primary, 24 |
23 |
| 1705 |
|
CMP091 |
Complement Component C1s Deficiency |
23 |
| 1706 |
c
|
CTR125 |
Cataract 7 |
23 |
| 1707 |
c
|
CLR106 |
Ciliary Dyskinesia, Primary, 26 |
23 |
| 1708 |
c
|
MGL029 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
23 |
| 1709 |
c
|
D2H003 |
D-2-Hydroxyglutaric Aciduria 2 |
23 |
| 1710 |
c
|
CLR139 |
Ciliary Dyskinesia, Primary, 39 |
23 |
| 1711 |
|
CHN050 |
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia |
23 |
| 1712 |
c
|
RTN166 |
Retinitis Pigmentosa 69 |
23 |
| 1713 |
|
SNJ002 |
Snijders Blok-Campeau Syndrome |
23 |
| 1714 |
c
|
SHR116 |
Short-Rib Thoracic Dysplasia 20 with Polydactyly |
23 |
| 1715 |
|
CRB204 |
Cerebellar, Ocular, Craniofacial, and Genital Syndrome |
23 |
| 1716 |
c
|
CCK004 |
Cockayne Syndrome Type Iii |
23 |
| 1717 |
c
|
SCK038 |
Seckel Syndrome 10 |
23 |
| 1718 |
c
|
ANM034 |
Anemia, Sideroblastic, 4 |
23 |
| 1719 |
|
CMP063 |
Complement Factor B Deficiency |
23 |
| 1720 |
c
|
EPL234 |
Epileptic Encephalopathy, Early Infantile, 70 |
23 |
| 1721 |
|
CNG501 |
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder |
22 |
| 1722 |
c
|
MTR039 |
Maturity-Onset Diabetes of the Young, Type 11 |
22 |
| 1723 |
c
|
HYP564 |
Hypocalcemia, Autosomal Dominant 2 |
22 |
| 1724 |
c
|
PRM295 |
Premature Ovarian Failure 15 |
22 |
| 1725 |
|
KRT057 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
22 |
| 1726 |
c
|
EPL180 |
Epileptic Encephalopathy, Early Infantile, 41 |
22 |
| 1727 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
22 |
| 1728 |
c
|
ATS378 |
Autism 17 |
22 |
| 1729 |
c
|
TYP034 |
Type 1 Diabetes Mellitus 8 |
22 |
| 1730 |
c
|
46X058 |
46,xy Sex Reversal 10 |
22 |
| 1731 |
c
|
SPN215 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
22 |
| 1732 |
|
INS015 |
Inosine Triphosphatase Deficiency |
22 |
| 1733 |
c
|
BRS108 |
Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 |
22 |
| 1734 |
c
|
46X056 |
46,xy Sex Reversal 5 |
22 |
| 1735 |
c
|
MYM004 |
Moyamoya Disease 2 |
22 |
| 1736 |
c
|
VTM029 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
22 |
| 1737 |
c
|
ANX008 |
Anauxetic Dysplasia 2 |
22 |
| 1738 |
c
|
PRM192 |
Premature Ovarian Failure 8 |
22 |
| 1739 |
c
|
STC012 |
Stickler Syndrome, Type Iv |
22 |
| 1740 |
c
|
CTR162 |
Cataract 47 |
22 |
| 1741 |
c
|
CLR054 |
Ciliary Dyskinesia, Primary, 12 |
22 |
| 1742 |
c
|
HYP519 |
Hyperekplexia 3 |
22 |
| 1743 |
c
|
NGH021 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
22 |
| 1744 |
c
|
EPL232 |
Epileptic Encephalopathy, Early Infantile, 68 |
22 |
| 1745 |
c
|
AML048 |
Amelogenesis Imperfecta, Type Ih |
22 |
| 1746 |
|
SHR065 |
Short Stature with Microcephaly and Distinctive Facies |
22 |
| 1747 |
c
|
CTR169 |
Cataract 29 |
22 |
| 1748 |
c
|
DMN029 |
Diamond-Blackfan Anemia 11 |
22 |
| 1749 |
c
|
JBR038 |
Joubert Syndrome 27 |
22 |
| 1750 |
c
|
CLR053 |
Ciliary Dyskinesia, Primary, 11 |
22 |
| 1751 |
|
CHT005 |
Chitotriosidase Deficiency |
22 |
| 1752 |
c
|
DPH016 |
Diaphragmatic Hernia 3 |
22 |
| 1753 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
| 1754 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
22 |
| 1755 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
22 |
| 1756 |
c
|
EPL221 |
Epileptic Encephalopathy, Early Infantile, 62 |
22 |
| 1757 |
|
CMP094 |
Complement Component 4b Deficiency |
22 |
| 1758 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
22 |
| 1759 |
c
|
MCL030 |
Macular Degeneration, Age-Related, 10 |
22 |
| 1760 |
c
|
CNR030 |
Cone-Rod Dystrophy 20 |
22 |
| 1761 |
|
DVL021 |
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities |
22 |
| 1762 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
22 |
| 1763 |
c
|
PRM091 |
Premature Ovarian Failure 2b |
22 |
| 1764 |
c
|
SYS040 |
Systemic Lupus Erythematosus 10 |
22 |
| 1765 |
c
|
JBR044 |
Joubert Syndrome 31 |
22 |
| 1766 |
c
|
PTN013 |
Patent Ductus Arteriosus 2 |
22 |
| 1767 |
|
CHR586 |
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb |
22 |
| 1768 |
|
ERY039 |
Erythrocyte Amp Deaminase Deficiency |
22 |
| 1769 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
22 |
| 1770 |
c
|
CNG520 |
Congenital Heart Defects, Multiple Types, 6 |
22 |
| 1771 |
c
|
CLR101 |
Ciliary Dyskinesia, Primary, 25 |
22 |
| 1772 |
c
|
EPL224 |
Epileptic Encephalopathy, Early Infantile, 65 |
22 |
| 1773 |
c
|
DBT082 |
Diabetes Mellitus, Insulin-Dependent, 12 |
22 |
| 1774 |
|
MCR326 |
Microcephaly-Micromelia Syndrome |
22 |
| 1775 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
22 |
| 1776 |
c
|
MRG012 |
Meier-Gorlin Syndrome 5 |
22 |
| 1777 |
c
|
CLR088 |
Ciliary Dyskinesia, Primary, 21 |
22 |
| 1778 |
|
MTC165 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
22 |
| 1779 |
|
GLL039 |
Galloway-Mowat Syndrome 2, X-Linked |
22 |
| 1780 |
c
|
PRM094 |
Premature Ovarian Failure 5 |
22 |
| 1781 |
P
|
HML046 |
Heimler Syndrome 2 |
22 |
| 1782 |
c
|
FRS015 |
Fraser Syndrome 3 |
22 |
| 1783 |
c
|
EPP009 |
Epiphyseal Dysplasia, Multiple, 6 |
22 |
| 1784 |
|
MTC167 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
22 |
| 1785 |
c
|
CLR056 |
Ciliary Dyskinesia, Primary, 10 |
22 |
| 1786 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
22 |
| 1787 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
22 |
| 1788 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
22 |
| 1789 |
|
MTC153 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
22 |
| 1790 |
c
|
CLR138 |
Ciliary Dyskinesia, Primary, 38 |
22 |
| 1791 |
c
|
MCR214 |
Microphthalmia, Isolated, with Coloboma 9 |
22 |
| 1792 |
c
|
EPL171 |
Epileptic Encephalopathy, Early Infantile, 38 |
22 |
| 1793 |
c
|
TYP038 |
Type 1 Diabetes Mellitus 15 |
22 |
| 1794 |
c
|
INF072 |
Inflammatory Bowel Disease 11 |
22 |
| 1795 |
c
|
CLR126 |
Ciliary Dyskinesia, Primary, 35 |
22 |
| 1796 |
c
|
CTR187 |
Cataract 48 |
22 |
| 1797 |
c
|
HYP578 |
Hypotrichosis 12 |
22 |
| 1798 |
c
|
EPL176 |
Epileptic Encephalopathy, Early Infantile, 46 |
22 |
| 1799 |
|
NCT013 |
N-Acetylaspartate Deficiency |
22 |
| 1800 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
22 |
| 1801 |
c
|
RDC016 |
Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset |
22 |
| 1802 |
c
|
EPL214 |
Epileptic Encephalopathy, Infantile or Early Childhood, 2 |
22 |
| 1803 |
c
|
HYP517 |
Hypoplastic Left Heart Syndrome 2 |
22 |
| 1804 |
|
SPN189 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
22 |
| 1805 |
c
|
PRG129 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 |
22 |
| 1806 |
c
|
EPL137 |
Epilepsy, Childhood Absence 6 |
22 |
| 1807 |
|
FNC060 |
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young |
22 |
| 1808 |
c
|
TWN010 |
Townes-Brocks Syndrome 2 |
21 |
| 1809 |
|
TWN007 |
Twinning, Dizygotic |
21 |
| 1810 |
c
|
EPP026 |
Epiphyseal Dysplasia, Multiple, 7 |
21 |
| 1811 |
c
|
EPL174 |
Epileptic Encephalopathy, Early Infantile, 45 |
21 |
| 1812 |
c
|
EPL136 |
Epilepsy, Childhood Absence 5 |
21 |
| 1813 |
c
|
PRM090 |
Premature Ovarian Failure 6 |
21 |
| 1814 |
c
|
DMN028 |
Diamond-Blackfan Anemia 12 |
21 |
| 1815 |
|
CMB013 |
Combined Oxidative Phosphorylation Deficiency 2 |
21 |
| 1816 |
|
THR113 |
Thiourea Tasting |
21 |
| 1817 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
21 |
| 1818 |
c
|
CNG521 |
Congenital Heart Defects, Multiple Types, 5 |
21 |
| 1819 |
c
|
PRG134 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 |
21 |
| 1820 |
|
LPD042 |
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency |
21 |
| 1821 |
c
|
GLL042 |
Galloway-Mowat Syndrome 5 |
21 |
| 1822 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
21 |
| 1823 |
c
|
MLG149 |
Malignant Hyperthermia 3 |
21 |
| 1824 |
c
|
TYP030 |
Type 1 Diabetes Mellitus 4 |
21 |
| 1825 |
|
RBN013 |
Robinow-Sorauf Syndrome |
21 |
| 1826 |
c
|
CWD005 |
Cowden Syndrome 4 |
21 |
| 1827 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
21 |
| 1828 |
c
|
DYS175 |
Dystonia 26, Myoclonic |
21 |
| 1829 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
21 |
| 1830 |
c
|
EPL093 |
Epilepsy, Idiopathic Generalized 7 |
21 |
| 1831 |
|
MTC158 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
21 |
| 1832 |
|
TNR001 |
Tenorio Syndrome |
21 |
| 1833 |
|
PHS029 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
21 |
| 1834 |
c
|
TRC103 |
Trichothiodystrophy 5, Nonphotosensitive |
21 |
| 1835 |
c
|
TYP039 |
Type 1 Diabetes Mellitus 17 |
21 |
| 1836 |
c
|
EPL229 |
Epileptic Encephalopathy, Early Infantile, 67 |
21 |
| 1837 |
|
MTC154 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
21 |
| 1838 |
c
|
BRN077 |
Bronchiectasis with or Without Elevated Sweat Chloride 3 |
21 |
| 1839 |
|
CNG512 |
Congenital Disorder of Glycosylation, Type Iaa |
21 |
| 1840 |
|
MTC164 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
21 |
| 1841 |
c
|
THR096 |
Three M Syndrome 3 |
21 |
| 1842 |
|
SDD009 |
Sudden Cardiac Failure, Infantile |
21 |
| 1843 |
c
|
OVR119 |
Ovarian Dysgenesis 7 |
21 |
| 1844 |
c
|
MLG150 |
Malignant Hyperthermia 4 |
21 |
| 1845 |
c
|
STC007 |
Stickler Syndrome, Type 3 |
21 |
| 1846 |
c
|
ENC037 |
Encephalopathy, Acute, Infection-Induced 6 |
21 |
| 1847 |
c
|
RTN130 |
Retinitis Pigmentosa 46 |
21 |
| 1848 |
c
|
46X059 |
46,xx Sex Reversal 4 |
21 |
| 1849 |
c
|
GLL047 |
Galloway-Mowat Syndrome 8 |
21 |
| 1850 |
|
CMB087 |
Combined Oxidative Phosphorylation Deficiency 37 |
21 |
| 1851 |
c
|
BRC108 |
Brachydactyly, Type A3 |
21 |
| 1852 |
c
|
RTN117 |
Retinitis Pigmentosa 57 |
21 |
| 1853 |
c
|
ATM050 |
Autoimmune Thyroid Disease 3 |
21 |
| 1854 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
21 |
| 1855 |
c
|
BLP049 |
Blepharocheilodontic Syndrome 2 |
21 |
| 1856 |
c
|
SCK033 |
Seckel Syndrome 8 |
21 |
| 1857 |
c
|
LTT008 |
Lattice Corneal Dystrophy Type Ii |
21 |
| 1858 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
21 |
| 1859 |
c
|
TYP040 |
Type 1 Diabetes Mellitus 18 |
21 |
| 1860 |
c
|
CHR465 |
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity |
21 |
| 1861 |
|
BRC106 |
Brachycephaly, Trichomegaly, and Developmental Delay |
21 |
| 1862 |
c
|
BRC075 |
Brachydactyly, Type A1, C |
21 |
| 1863 |
c
|
HTR020 |
Heterotaxy, Visceral, 8, Autosomal |
21 |
| 1864 |
c
|
CLR124 |
Ciliary Dyskinesia, Primary, 34 |
21 |
| 1865 |
c
|
EPL086 |
Epilepsy, Idiopathic Generalized 9 |
21 |
| 1866 |
c
|
CNR029 |
Cone-Rod Dystrophy 19 |
21 |
| 1867 |
c
|
ATS377 |
Autism 16 |
21 |
| 1868 |
c
|
EPL219 |
Epileptic Encephalopathy, Early Infantile, 61 |
21 |
| 1869 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
21 |
| 1870 |
c
|
NGH022 |
Night Blindness, Congenital Stationary, Type 1g |
21 |
| 1871 |
|
CNZ004 |
Coenzyme Q10 Deficiency, Primary, 3 |
21 |
| 1872 |
c
|
MLT078 |
Multiple Synostoses Syndrome 3 |
21 |
| 1873 |
c
|
CLC046 |
Celiac Disease 5 |
21 |
| 1874 |
c
|
DWL004 |
Dowling-Degos Disease 4 |
21 |
| 1875 |
c
|
EXD010 |
Exudative Vitreoretinopathy 6 |
21 |
| 1876 |
c
|
EPL238 |
Epileptic Encephalopathy, Early Infantile, 73 |
21 |
| 1877 |
c
|
STC011 |
Stickler Syndrome, Type V |
21 |
| 1878 |
c
|
PRG041 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 |
21 |
| 1879 |
c
|
ATS369 |
Autism 8 |
20 |
| 1880 |
c
|
EPL239 |
Epileptic Encephalopathy, Early Infantile, 74 |
20 |
| 1881 |
|
DGN006 |
Digenic Disease |
20 |
| 1882 |
c
|
SPN417 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
20 |
| 1883 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
20 |
| 1884 |
c
|
SYM019 |
Symphalangism, Proximal, 1b |
20 |
| 1885 |
|
HYP722 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
20 |
| 1886 |
|
INT328 |
Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities |
20 |
| 1887 |
c
|
OVR115 |
Ovarian Dysgenesis 5 |
20 |
| 1888 |
|
MTC162 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
20 |
| 1889 |
|
INT310 |
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis |
20 |
| 1890 |
c
|
CNG511 |
Congenital Heart Defects, Multiple Types, 2 |
20 |
| 1891 |
|
PLY167 |
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
20 |
| 1892 |
c
|
CRB168 |
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 |
20 |
| 1893 |
|
MTC147 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
20 |
| 1894 |
c
|
RTN195 |
Retinitis Pigmentosa 79 |
20 |
| 1895 |
c
|
MLT124 |
Multiple Sclerosis 5 |
20 |
| 1896 |
c
|
EPL226 |
Epileptic Encephalopathy, Early Infantile, 66 |
20 |
| 1897 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
20 |
| 1898 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
20 |
| 1899 |
c
|
CTR119 |
Cataract 32, Multiple Types |
20 |
| 1900 |
