# |
Family |
MCID |
Name |
MIFTS |
1 |
|
NRS003 |
Neurosyphilis |
48 |
2 |
c
|
NNS073 |
Non-Syndromic X-Linked Intellectual Disability 2 |
18 |
3 |
c
|
NNS117 |
Non-Syndromic X-Linked Intellectual Disability Arx-Related |
17 |
4 |
c
|
NNS086 |
Non-Syndromic X-Linked Intellectual Disability 91 |
16 |
5 |
c
|
NNS090 |
Non-Syndromic X-Linked Intellectual Disability 82 |
14 |
6 |
c
|
NNS085 |
Non-Syndromic X-Linked Intellectual Disability 90 |
13 |
7 |
c
|
NNS076 |
Non-Syndromic X-Linked Intellectual Disability 58 |
13 |
8 |
c
|
NNS094 |
Non-Syndromic X-Linked Intellectual Disability 72 |
13 |
9 |
c
|
NNS080 |
Non-Syndromic X-Linked Intellectual Disability 89 |
13 |
10 |
c
|
NNS077 |
Non-Syndromic X-Linked Intellectual Disability 14 |
13 |
11 |
c
|
NNS081 |
Non-Syndromic X-Linked Intellectual Disability 81 |
11 |
12 |
c
|
NNS084 |
Non-Syndromic X-Linked Intellectual Disability 77 |
10 |
13 |
c
|
NNS092 |
Non-Syndromic X-Linked Intellectual Disability 46 |
10 |
14 |
c
|
NNS074 |
Non-Syndromic X-Linked Intellectual Disability 19 |
9 |
15 |
c
|
NNS078 |
Non-Syndromic X-Linked Intellectual Disability 45 |
9 |
16 |
c
|
NNS075 |
Non-Syndromic X-Linked Intellectual Disability 20 |
8 |
17 |
c
|
NNS079 |
Non-Syndromic X-Linked Intellectual Disability 84 |
6 |
18 |
c
|
NNS091 |
Non-Syndromic X-Linked Intellectual Disability 88 |
6 |
19 |
|
NRT001 |
Neurotic Disorder |
57 |
20 |
|
NRF026 |
Neurofibromatosis, Type Iv, of Riccardi |
26 |
21 |
|
BLM002 |
Bulimia Nervosa |
58 |
22 |
|
MRS009 |
Marsili Syndrome |
43 |
23 |
c
|
NRP067 |
Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy |
30 |
24 |
|
MLN001 |
Melanotic Neuroectodermal Tumor |
27 |
25 |
|
NRD085 |
Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures |
24 |
26 |
c
|
NRN050 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
29 |
27 |
|
NRD118 |
Neurodevelopmental Disorder with or Without Autism or Seizures |
24 |
28 |
|
ANR007 |
Anorexia Nervosa |
61 |
29 |
|
CHR696 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia |
28 |
30 |
c
|
SPT021 |
Sptlc1-Related Hereditary Sensory Neuropathy |
15 |
31 |
|
OBS002 |
Obsessive-Compulsive Disorder |
67 |
32 |
|
LGS001 |
Legius Syndrome |
58 |
33 |
|
RCT005 |
Rectum Neuroendocrine Neoplasm |
36 |
34 |
|
LRY013 |
Laryngeal Neuroendocrine Tumor |
32 |
35 |
|
DVL031 |
Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects |
28 |
36 |
|
SZR029 |
Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications |
22 |
37 |
|
NRD095 |
Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities |
21 |
38 |
|
LWG004 |
Low-Grade Neuroendocrine Tumor of the Corpus Uteri |
7 |
39 |
c
|
CNT122 |
Central Diabetes Insipidus |
56 |
40 |
P
|
DBT005 |
Diabetes Insipidus |
55 |
41 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
54 |
42 |
|
ATX010 |
Ataxia Neuropathy Spectrum |
30 |
43 |
|
NRD067 |
Neurodevelopmental Disorder with or Without Variable Brain Abnormalities |
25 |
44 |
|
NRD105 |
Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities |
24 |
45 |
|
ANL010 |
Anal Neuroendocrine Tumor |
18 |
46 |
|
CHL005 |
Childhood Mediastinal Neurogenic Tumor |
6 |
47 |
|
DBT087 |
Diabetes Insipidus, Neurohypophyseal |
57 |
48 |
|
AMY086 |
Amyotrophy, Hereditary Neuralgic |
46 |
49 |
|
CNV002 |
Conversion Disorder |
45 |
50 |
|
BRN139 |
Brain Small Vessel Disease 1 with or Without Ocular Anomalies |
38 |
51 |
|
HRT037 |
Heart and Brain Malformation Syndrome |
31 |
52 |
P
|
NRD034 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant |
30 |
53 |
c
|
NRP068 |
Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy |
21 |
54 |
P
|
GNT049 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
57 |
55 |
|
ERY029 |
Erythermalgia, Primary |
48 |
56 |
|
NSC005 |
Nescav Syndrome |
45 |
57 |
|
DPR002 |
Depersonalization Disorder |
40 |
58 |
c
|
GNT040 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
22 |
59 |
P
|
NRB001 |
Neuroblastoma |
62 |
60 |
|
DSS008 |
Disease of Mental Health |
53 |
61 |
c
|
NRB010 |
Neuroblastoma 1 |
41 |
62 |
|
NRG003 |
Neurogenic Arthropathy |
41 |
63 |
c
|
3MT025 |
3-Methylglutaconic Aciduria, Type Viib |
35 |
64 |
|
NRN016 |
Neuronal Migration Disorders |
34 |
65 |
|
SYN175 |
Syndromic X-Linked Intellectual Disability Lubs Type |
34 |
66 |
|
LNG002 |
Lung Combined Large Cell Neuroendocrine Carcinoma |
34 |
67 |
P
|
CRB059 |
Cerebellar Degeneration |
32 |
68 |
c
|
NRB015 |
Neuroblastoma 2 |
32 |
69 |
c
|
PRM015 |
Primary Cerebellar Degeneration |
30 |
70 |
|
ESP009 |
Esophageal Neuroendocrine Tumor |
30 |
71 |
|
BRN049 |
Brain Tumor, Childhood |
28 |
72 |
|
HLP033 |
Halperin-Birk Syndrome |
23 |
73 |
|
NRD145 |
Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus |
23 |
74 |
c
|
CHR725 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1h |
23 |
75 |
|
SYN083 |
Syndromic X-Linked Intellectual Disability Shashi Type |
19 |
76 |
|
NRF025 |
Neurofibromatosis, Type Iii, Mixed Central and Peripheral |
18 |
77 |
c
|
SBC039 |
Subacute Cerebellar Degeneration |
17 |
78 |
c
|
LPD015 |
Lipodystrophy, Familial Partial, Type 2 |
63 |
79 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
80 |
|
MNN028 |
Mononeuropathy of the Median Nerve, Mild |
53 |
81 |
c
|
LPD021 |
Lipodystrophy, Familial Partial, Type 3 |
52 |
82 |
c
|
LPD034 |
Lipodystrophy, Familial Partial, Type 4 |
44 |
83 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
44 |
84 |
P
|
HYP888 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 |
41 |
85 |
c
|
LPD036 |
Lipodystrophy, Familial Partial, Type 6 |
40 |
86 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
39 |
87 |
c
|
TRC101 |
Trichothiodystrophy 4, Nonphotosensitive |
37 |
88 |
c
|
TRC125 |
Trichothiodystrophy 7, Nonphotosensitive |
36 |
89 |
c
|
LPD030 |
Lipodystrophy, Familial Partial, Type 5 |
36 |
90 |
|
NRD108 |
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities |
32 |
91 |
c
|
TRC117 |
Trichothiodystrophy 6, Nonphotosensitive |
30 |
92 |
c
|
NRP065 |
Neuropathy, Congenital Hypomyelinating, 3 |
28 |
93 |
c
|
CRB136 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 |
28 |
94 |
c
|
LPD044 |
Lipodystrophy, Familial Partial, Type 7 |
27 |
95 |
|
NRD049 |
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures |
26 |
96 |
c
|
AKT001 |
Akt2-Related Familial Partial Lipodystrophy |
16 |
97 |
|
WRN002 |
Wernicke-Korsakoff Syndrome |
51 |
98 |
|
ALP012 |
Alpha-Methylacyl-Coa Racemase Deficiency |
49 |
99 |
|
ABC001 |
Abcd Syndrome |
39 |
100 |
c
|
NRP064 |
Neuropathy, Congenital Hypomyelinating, 2 |
36 |
101 |
|
BRN142 |
Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis |
29 |
102 |
c
|
NRB014 |
Neuroblastoma 3 |
28 |
103 |
|
PRM183 |
Primary Aldosteronism, Seizures, and Neurologic Abnormalities |
28 |
104 |
|
46X083 |
46,xy Gonadal Dysgenesis with Minifascicular Neuropathy |
28 |
105 |
|
ART164 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect |
26 |
106 |
|
NRD115 |
Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities |
25 |
107 |
c
|
CRB195 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 |
24 |
108 |
c
|
CRB141 |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 |
24 |
109 |
|
NRD061 |
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities |
24 |
110 |
|
NRD040 |
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter |
23 |
111 |
|
NRD136 |
Neurodevelopmental Disorder with Seizures and Brain Abnormalities |
20 |
112 |
|
ALP091 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
19 |
113 |
|
NRN023 |
Neuroendocrine Cell Hyperplasia of Infancy |
19 |
114 |
|
NRD111 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy |
19 |
115 |
|
KRK002 |
Karak Syndrome |
18 |
116 |
|
CNG458 |
Congenital Abducens Nerve Palsy |
9 |
117 |
|
PRM283 |
Primitive Neuroectodermal Tumor of the Corpus Uteri |
7 |
118 |
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
38 |
119 |
|
KSK002 |
Kosaki Overgrowth Syndrome |
36 |
120 |
|
NRD038 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy |
34 |
121 |
|
NRT011 |
Neurotrophic Keratopathy |
33 |
122 |
|
AMY005 |
Amyloid Neuropathy |
30 |
123 |
|
NRD059 |
Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy |
28 |
124 |
|
NRD081 |
Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies |
27 |
125 |
|
NRD099 |
Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity |
25 |
126 |
|
NRD092 |
Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis |
24 |
127 |
|
NRD073 |
Neurodevelopmental Disorder with Visual Defects and Brain Anomalies |
24 |
128 |
|
NRD135 |
Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities |
24 |
129 |
|
MYS083 |
Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant |
23 |
130 |
|
CHR639 |
Chromosome Xp11.22 Duplication Syndrome |
23 |
131 |
|
NRD112 |
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities |
23 |
132 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
22 |
133 |
|
INT391 |
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy |
22 |
134 |
|
ECT113 |
Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies |
22 |
135 |
|
HNG004 |
Hengel-Maroofian-Schols Syndrome |
21 |
136 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
21 |
137 |
|
NRD113 |
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities |
21 |
138 |
|
NRD042 |
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy |
21 |
139 |
c
|
NNS089 |
Non-Syndromic X-Linked Intellectual Disability 30 |
21 |
140 |
|
DVL130 |
Developmental Delay with Variable Neurologic and Brain Abnormalities |
21 |
141 |
|
END088 |
Endove Syndrome, Limb-Brain Type |
20 |
142 |
|
NRD110 |
Neurodevelopmental Disorder with Seizures and Brain Atrophy |
19 |
143 |
c
|
NRN053 |
Neuronopathy, Distal Hereditary Motor, Type X |
12 |
144 |
|
BNP001 |
Bone Peripheral Neuroepithelioma |
12 |
145 |
|
MNT257 |
Mental Retardation, X-Linked, with Craniofacial Dysmorphism |
11 |
146 |
|
SYN081 |
Syndromic X-Linked Intellectual Disability Abidi Type |
9 |
147 |
|
CLS051 |
Classic Neuroendocrine Tumor of Appendix |
7 |
148 |
|
SPN020 |
Spondylosis |
49 |
149 |
|
MTB008 |
Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration |
44 |
150 |
c
|
SPN430 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 |
37 |
151 |
|
KHR001 |
Kahrizi Syndrome |
34 |
152 |
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
32 |
153 |
|
EPL206 |
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions |
31 |
154 |
c
|
HYP891 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 |
30 |
155 |
|
NRD057 |
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects |
30 |
156 |
|
EMB015 |
Embryonal Tumor with Multilayered Rosettes |
29 |
157 |
|
NRF016 |
Neurofibromatosis, Familial Spinal |
28 |
158 |
|
NRD023 |
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language |
27 |
159 |
|
NRD051 |
Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness |
27 |
160 |
|
PRF003 |
Piriformis Syndrome |
26 |
161 |
|
GNT184 |
Genitourinary and/or Brain Malformation Syndrome |
26 |
162 |
c
|
SPN432 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 |
25 |
163 |
|
NRD107 |
Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia |
25 |
164 |
|
MGR035 |
Migraine with Brainstem Aura |
25 |
165 |
|
CHR655 |
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive |
24 |
166 |
c
|
CHR724 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1i |
24 |
167 |
|
ENC050 |
Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities |
24 |
168 |
|
NRD093 |
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy |
24 |
169 |
|
ART166 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum |
24 |
170 |
c
|
NNS112 |
Non-Syndromic X-Linked Intellectual Disability 21 |
24 |
171 |
|
NRD089 |
Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies |
23 |
172 |
c
|
NRD041 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive |
23 |
173 |
|
NRD123 |
Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia |
22 |
174 |
|
NRD166 |
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities |
21 |
175 |
|
NRD070 |
Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies |
20 |
176 |
|
NRD160 |
Neurodevelopmental Disorder with Epilepsy and Brain Atrophy |
19 |
177 |
c
|
CHR135 |
Charcot-Marie-Tooth Disease Type 2a |
19 |
178 |
|
NRD164 |
Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities |
19 |
179 |
|
NRD161 |
Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy |
18 |
180 |
|
SBN004 |
Sabinas Brittle Hair Syndrome |
16 |
181 |
|
NRD173 |
Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities |
16 |
182 |
|
KFF001 |
Kifafa Seizure Disorder |
15 |
183 |
|
PCH018 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
15 |
184 |
|
MDS014 |
Mediastinum Neuroblastoma |
5 |
185 |
P
|
ART005 |
Arteriovenous Malformation |
65 |
186 |
P
|
CTR177 |
Citrullinemia, Type Ii, Adult-Onset |
59 |
187 |
|
DSN001 |
De Sanctis-Cacchione Syndrome |
50 |
188 |
|
HYP265 |
Hypotonia |
46 |
189 |
c
|
CFF009 |
Coffin-Siris Syndrome 4 |
43 |
190 |
P
|
CHR342 |
Chiari Malformation |
42 |
191 |
P
|
GLY112 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
39 |
192 |
|
MLT178 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
38 |
193 |
c
|
CFF007 |
Coffin-Siris Syndrome 2 |
38 |
194 |
|
HYD065 |
Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies |
34 |
195 |
c
|
CFF014 |
Coffin-Siris Syndrome 9 |
33 |
196 |
|
DVL111 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy |
28 |
197 |
|
IMP020 |
Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects |
28 |
198 |
c
|
GLY106 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
27 |
199 |
|
ILL008 |
Ileal Neuroendocrine Tumor |
27 |
200 |
c
|
SPN451 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
27 |
201 |
c
|
HYP889 |
Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 |
26 |
202 |
|
PRM205 |
Primary Hepatic Neuroendocrine Carcinoma |
26 |
203 |
|
NRD096 |
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures |
26 |
204 |
c
|
DBT106 |
Diabetes Mellitus, Permanent Neonatal, 3 |
26 |
205 |
c
|
CRT089 |
Cortical Dysplasia, Complex, with Other Brain Malformations 10 |
24 |
206 |
|
LKN030 |
Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome |
24 |
207 |
|
HTT003 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
23 |
208 |
|
NRD079 |
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies |
23 |
209 |
c
|
CRT087 |
Cortical Dysplasia, Complex, with Other Brain Malformations 9 |
22 |
210 |
c
|
3MT026 |
3-Methylglutaconic Aciduria, Type Viia |
22 |
211 |
c
|
CHR715 |
Charcot-Marie-Tooth Disease, Axonal, Type 2gg |
22 |
212 |
|
NRM024 |
Neuromuscular Oculoauditory Syndrome |
22 |
213 |
|
NRD097 |
Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline |
22 |
214 |
c
|
CHR714 |
Charcot-Marie-Tooth Disease, Axonal, Type 2ff |
20 |
215 |
|
SPN185 |
Spinal Cord Infarction |
20 |
216 |
|
NRD127 |
Neurodevelopmental Disorder with Infantile Epileptic Spasms |
19 |
217 |
|
BRS005 |
Breast Neuroendocrine Neoplasm |
19 |
218 |
c
|
ALP114 |
Alopecia-Intellectual Disability Syndrome 2 |
18 |
219 |
|
CNG362 |
Congenital Trochlear Nerve Palsy |
17 |
220 |
|
CNG457 |
Congenital Oculomotor Nerve Palsy |
16 |
221 |
|
CLP007 |
Clpb Deficiency |
15 |
222 |
|
BRN069 |
Brain and Spinal Tumors |
11 |
223 |
|
FNC068 |
Functional Neurologic Disorder |
10 |
224 |
c
|
ADL083 |
Adult-Onset Citrullinemia Type I |
10 |
225 |
c
|
RRR004 |
Rare Arteriovenous Malformation |
10 |
226 |
c
|
CL4005 |
Col4a1-Related Brain Small-Vessel Disease |
9 |
227 |
|
MBS003 |
Moebius Axonal Neuropathy Hypogonadism |
4 |
228 |
|
HMR039 |
Hemorrhage, Intracerebral |
60 |
229 |
P
|
SYP003 |
Syphilis |
60 |
230 |
|
PST028 |
Post-Traumatic Stress Disorder |
59 |
231 |
|
APH002 |
Aphasia |
55 |
232 |
|
TRD006 |
Tardive Dyskinesia |
53 |
233 |
|
APR001 |
Apraxia |
52 |
234 |
|
GLM045 |
Glioma |
51 |
235 |
|
PYR037 |
Pyruvate Carboxylase Deficiency |
48 |
236 |
c
|
CNG033 |
Congenital Syphilis |
42 |
237 |
|
ADS004 |
Aids Dementia Complex |
41 |
238 |
c
|
CRN277 |
Craniosynostosis 2 |
38 |
239 |
|
MHV001 |
Mahvash Disease |
38 |
240 |
|
CRB090 |
Cerebral Hypoxia |
38 |
241 |
|
MTH026 |
Methemoglobinemia Due to Deficiency of Methemoglobin Reductase |
37 |
242 |
c
|
SCN006 |
Secondary Syphilis |
37 |
243 |
|
HYP264 |
Hypertonia |
35 |
244 |
|
MTC108 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
34 |
245 |
c
|
PRM022 |
Primary Syphilis |
32 |
246 |
|
SYN178 |
Syndromic X-Linked Intellectual Disability Claes-Jensen Type |
32 |
247 |
c
|
LTC001 |
Late Congenital Syphilis |
31 |
248 |
c
|
DNC007 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
30 |
249 |
|
CHR581 |
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb |
29 |
250 |
c
|
ERL002 |
Early Congenital Syphilis |
28 |
251 |
|
PRS017 |
Prostate Neuroendocrine Neoplasm |
27 |
252 |
P
|
NRD134 |
Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies |
27 |
253 |
|
SDM007 |
Sodium-Dependent Multivitamin Transporter Deficiency |
27 |
254 |
|
NRD094 |
Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation |
25 |
255 |
|
SRB001 |
Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy |
25 |
256 |
|
PRP102 |
Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development |
25 |
257 |
|
CRB227 |
Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects |
25 |
258 |
|
NRD088 |
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity |
25 |
259 |
|
NRD116 |
Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy |
24 |
260 |
|
MYC075 |
Myoclonus, Intractable, Neonatal |
24 |
261 |
|
CHL189 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
24 |
262 |
|
NRD140 |
Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures |
23 |
263 |
|
NRD119 |
Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism |
23 |
264 |
|
NRH002 |
Neurohypophysis Granular Cell Tumor |
23 |
265 |
c
|
CNT068 |
Central Pain Syndrome |
22 |
266 |
|
INT568 |
Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly |
22 |
267 |
|
NRD131 |
Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum |
22 |
268 |
c
|
CHR716 |
Charcot-Marie-Tooth Disease, Axonal, Type 2hh |
22 |
269 |
|
NRD122 |
Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia |
21 |
270 |
c
|
NRD152 |
Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies |
21 |
271 |
P
|
DNC006 |
Diencephalic-Mesencephalic Junction Dysplasia |
20 |
272 |
|
NRD126 |
Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction |
20 |
273 |
|
CLN014 |
Colon Neuroendocrine Neoplasm |
20 |
274 |
|
VCL007 |
Vocal Cord Paralysis and Ptosis |
19 |
275 |
|
NRD146 |
Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis |
19 |
276 |
P
|
MNT312 |
Mental Health Wellness 1 |
18 |
277 |
|
MNT311 |
Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration |
17 |
278 |
|
OVR004 |
Ovary Neuroendocrine Neoplasm |
16 |
279 |
|
DPB002 |
Deep Brain Stimulation for Movement Disorders |
16 |
280 |
c
|
PPP004 |
Ppp2r1a-Related Neurodevelopmental Disorder |
16 |
281 |
|
NRP006 |
Neuropathy, Congenital, with Arthrogryposis Multiplex |
15 |
282 |
|
DBT109 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
15 |
283 |
|
PRN063 |
Peroneal Nerve, Accessory Deep |
15 |
284 |
c
|
SH3001 |
Sh3tc2-Related Hereditary Motor and Sensory Neuropathy |
15 |
285 |
|
RDL014 |
Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation |
15 |
286 |
c
|
NRB012 |
Neuroblastoma 5 |
15 |
287 |
c
|
NRB016 |
Neuroblastoma 7 |
14 |
288 |
c
|
NNS123 |
Non-Syndromic X-Linked Intellectual Disability 97 |
14 |
289 |
|
HLL013 |
Hall-Riggs Mental Retardation Syndrome |
14 |
290 |
|
HRD103 |
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
13 |
291 |
c
|
NRB011 |
Neuroblastoma 4 |
13 |
292 |
|
CRN293 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
13 |
293 |
c
|
GDP003 |
Gdap1-Related Hereditary Motor and Sensory Neuropathy |
12 |
294 |
|
CTR173 |
Cataract, Ataxia, Short Stature, and Mental Retardation |
12 |
295 |
|
SCH022 |
Schimke X-Linked Mental Retardation Syndrome |
12 |
296 |
c
|
NRB013 |
Neuroblastoma 6 |
12 |
297 |
|
RRR001 |
Rere-Related Disorders |
12 |
298 |
|
CLL024 |
Colloid Cysts of Third Ventricle |
11 |
299 |
|
LMB066 |
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity |
11 |
300 |
c
|
MNT313 |
Mental Health Wellness 2 |
11 |
301 |
|
TCP003 |
Tecpr2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability |
10 |
302 |
|
ULN022 |
Ulnar Hypoplasia with Mental Retardation |
10 |
303 |
|
MFN001 |
Mfn2 Hereditary Motor and Sensory Neuropathy |
10 |
304 |
|
EFV001 |
Efavirenz, Poor Metabolism of |
9 |
305 |
|
PRP096 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain |
9 |
306 |
|
SFT001 |
Soft Tissue Peripheral Neuroepithelioma |
9 |
307 |
c
|
MCR373 |
Mecr-Related Neurologic Disorder |
9 |
308 |
|
HRD181 |
Hereditary Neuroendocrine Tumor of Small Intestine |
8 |
309 |
P
|
ATS499 |
Autosomal Dominant Familial Visceral Neuropathy |
8 |
310 |
|
GJB008 |
Gjb1 Disorders: Charcot-Marie-Tooth Neuropathy and Central Nervous System Phenotypes |
8 |
311 |
|
SYN181 |
Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type |
6 |
312 |
|
SCM002 |
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities |
6 |
313 |
|
ART040 |
Arthrogryposis Epileptic Seizures Migrational Brain Disorder |
5 |
314 |
|
ARN002 |
Arnold Stickler Bourne Syndrome |
4 |
315 |
|
NRL041 |
Neurological Sequelae of Lupus |
4 |
316 |
|
VSC023 |
Vasculitis Syndromes of the Central and Peripheral Nervous Systems |
4 |
317 |
P
|
NRL026 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Chloride Channel Defect |
2 |
318 |
c
|
NRL032 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect |
2 |
319 |
c
|
NRL036 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Calcium Channel Defect |
2 |
320 |
c
|
NRL034 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Gaba Receptor Defect |
2 |
321 |
c
|
NRL037 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Potassium Channel Defect |
2 |
322 |
c
|
NRL033 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Acetylcholine Receptor Defect |
2 |
323 |
c
|
NRL035 |
Neurological Channelopathy of the Central Nervous System Due to a Genetic Sodium Channel Defect |
2 |
324 |
|
GNT173 |
Genetic Neurological Channelopathy of the Central Nervous System |
2 |
325 |
P
|
CRB048 |
Cerebral Cavernous Malformations |
66 |
326 |
c
|
MCP047 |
Mucopolysaccharidosis, Type Iva |
65 |
327 |
|
PTS001 |
Patau Syndrome |
57 |
328 |
|
OCL069 |
Ocular Motor Apraxia |
48 |
329 |
|
HYP648 |
Hypertension and Brachydactyly Syndrome |
45 |
330 |
|
MTC019 |
Metachromatic Leukodystrophy Due to Saposin B Deficiency |
37 |
331 |
|
CNG538 |
Congenital Arthrogryposis with Anterior Horn Cell Disease |
34 |
332 |
P
|
RJB003 |
Rajab Interstitial Lung Disease with Brain Calcifications 1 |
33 |
333 |
|
MGC007 |
Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations |
32 |
334 |
P
|
TSS006 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
32 |
335 |
c
|
HYP723 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 |
32 |
336 |
P
|
ALP116 |
Alopecia-Intellectual Disability Syndrome 4 |
29 |
337 |
|
NRD156 |
Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies |
28 |
338 |
c
|
LKD030 |
Leukodystrophy, Hypomyelinating, 17 |
28 |
339 |
P
|
HYP821 |
Hypermanganesemia with Dystonia |
27 |
340 |
|
SPN424 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits |
27 |
341 |
c
|
BSL046 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
26 |
342 |
|
MRB008 |
Marbach-Schaaf Neurodevelopmental Syndrome |
24 |
343 |
|
NRD068 |
Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia |
24 |
344 |
c
|
MTC234 |
Mitochondrial Dna Depletion Syndrome 16b |
24 |
345 |
|
NRD062 |
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction |
24 |
346 |
c
|
CRB226 |
Cerebral Cavernous Malformations 4 |
23 |
347 |
c
|
RJB004 |
Rajab Interstitial Lung Disease with Brain Calcifications 2 |
23 |
348 |
|
NRD044 |
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features |
23 |
349 |
|
ILL003 |
Illum Syndrome |
23 |
350 |
|
CLP002 |
Colpocephaly |
23 |
351 |
|
DNT053 |
Dentici-Novelli Neurodevelopmental Syndrome |
22 |
352 |
|
NRD154 |
Neurodegeneration, Childhood-Onset, with Progressive Microcephaly |
22 |
353 |
|
MCR371 |
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations |
22 |
354 |
|
NRD027 |
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset |
22 |
355 |
|
HRS002 |
Hersh Podruch Weisskopk Syndrome |
21 |
356 |
|
NRD162 |
Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies |
21 |
357 |
|
NRD078 |
Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity |
21 |
358 |
|
NRP070 |
Neuropathy, Hereditary Motor, with Myopathic Features |
21 |
359 |
|
NRC024 |
Neurocardiofaciodigital Syndrome |
20 |
360 |
c
|
VSC070 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
20 |
361 |
|
NRD159 |
Neurodevelopmental Disorder with Dystonia and Seizures |
20 |
362 |
|
DWR024 |
Dworschak-Punetha Neurodevelopmental Syndrome |
19 |
363 |
|
NRD158 |
Neurodevelopmental Disorder with Language Delay and Seizures |
18 |
364 |
|
ATX047 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation |
17 |
365 |
c
|
CHR732 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1j |
17 |
366 |
|
NRD174 |
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly |
17 |
367 |
|
NRD175 |
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects |
16 |
368 |
|
SPR032 |
Superficial Siderosis of the Central Nervous System |
15 |
369 |
|
NRD176 |
Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction |
15 |
370 |
|
HYP671 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
15 |
371 |
|
SCL044 |
Scalp Syndrome |
14 |
372 |
|
RCR030 |
Recurrent Idiopathic Neuroretinitis |
12 |
373 |
|
MDD017 |
Middle Ear Neuroendocrine Tumor |
12 |
374 |
|
NRL040 |
Neurological Complications of Lyme Disease |
6 |
375 |
|
FBX004 |
Fbxw7 Neurodevelopmental Syndrome |
3 |
376 |
|
LBR037 |
Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns |
3 |
377 |
P
|
CRN037 |
Craniosynostosis |
66 |
378 |
|
ASP004 |
Asphyxia Neonatorum |
54 |
379 |
c
|
CRN278 |
Craniosynostosis 1 |
53 |
380 |
P
|
BSL038 |
Basal Ganglia Calcification, Idiopathic, 1 |
52 |
381 |
|
MNN020 |
Meningococcal Infection |
51 |
382 |
|
PTT041 |
Pituitary Stalk Interruption Syndrome |
49 |
383 |
P
|
CHR345 |
Chronic Pain |
48 |
384 |
|
LRN003 |
Learning Disability |
45 |
385 |
|
MXD026 |
Mixed Glioma |
45 |
386 |
|
LRG014 |
Large Cell Neuroendocrine Carcinoma |
38 |
387 |
|
CMB041 |
Combined Oxidative Phosphorylation Deficiency 13 |
38 |
388 |
|
PRS063 |
Paresthesia |
38 |
389 |
|
SWL001 |
Swallowing Disorders |
37 |
390 |
P
|
OCL076 |
Oculopharyngodistal Myopathy 1 |
36 |
391 |
P
|
DYS021 |
Dysautonomia |
36 |
392 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
36 |
393 |
|
CMB048 |
Combined Oxidative Phosphorylation Deficiency 15 |
35 |
394 |
P
|
CRB088 |
Cerebral Atrophy |
34 |
395 |
|
CRT033 |
Corticobasal Degeneration |
33 |
396 |
c
|
AMY094 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
32 |
397 |
c
|
CRN281 |
Craniosynostosis 7 |
32 |
398 |
|
BRN137 |
Bronchial Neuroendocrine Tumor |
31 |
399 |
|
FTD001 |
Foot Drop |
30 |
400 |
c
|
CRN217 |
Craniosynostosis 3 |
28 |
401 |
c
|
CRN221 |
Craniosynostosis 4 |
28 |
402 |
c
|
PRV018 |
Periventricular Nodular Heterotopia 7 |
27 |
403 |
|
CMB002 |
Combat Disorder |
27 |
404 |
|
LKN018 |
Leukoencephalopathy, Progressive, with Ovarian Failure |
27 |
405 |
|
LKN017 |
Leukoencephalopathy with Ataxia |
27 |
406 |
|
WCK004 |
Wieacker-Wolff Syndrome, Female-Restricted |
26 |
407 |
c
|
PRV022 |
Periventricular Nodular Heterotopia 9 |
26 |
408 |
|
SHK002 |
Shukla-Vernon Syndrome |
26 |
409 |
|
NRD077 |
Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies |
26 |
410 |
c
|
CRN256 |
Craniosynostosis 6 |
25 |
411 |
c
|
MCR382 |
Microcephaly 26, Primary, Autosomal Dominant |
25 |
412 |
c
|
BSL049 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
25 |
413 |
c
|
BSL035 |
Basal Ganglia Calcification, Idiopathic, 5 |
24 |
414 |
|
NRD138 |
Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures |
24 |
415 |
c
|
BSL039 |
Basal Ganglia Calcification, Idiopathic, 6 |
24 |
416 |
c
|
SPN440 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
24 |
417 |
|
SYN176 |
Syndromic X-Linked Intellectual Disability Hedera Type |
24 |
418 |
c
|
SPS042 |
Spastic Paraplegia 9 |
24 |
419 |
|
STR112 |
Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis |
24 |
420 |
|
MTC229 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 2 |
23 |
421 |
c
|
LKD032 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
23 |
422 |
c
|
AMY110 |
Amyotrophic Lateral Sclerosis 24 |
23 |
423 |
c
|
SPN452 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
23 |
424 |
c
|
CHR681 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g |
23 |
425 |
|
KYB001 |
Kaya-Barakat-Masson Syndrome |
23 |
426 |
c
|
OCL084 |
Oculopharyngodistal Myopathy 3 |
23 |
427 |
|
ATX050 |
Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset |
22 |
428 |
c
|
PRV021 |
Periventricular Nodular Heterotopia 8 |
22 |
429 |
|
PDT043 |
Pediatric Acute-Onset Neuropsychiatric Syndrome |
22 |
430 |
|
NRD035 |
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures |
22 |
431 |
|
PRN072 |
Parenti-Mignot Neurodevelopmental Syndrome |
22 |
432 |
c
|
SPN459 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
22 |
433 |
|
AMY018 |
Amyotonia Congenita |
22 |
434 |
|
THY108 |
Thymic Neuroendocrine Tumor |
22 |
435 |
|
BSL043 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
21 |
436 |
|
LCM001 |
Li-Campeau Syndrome |
21 |
437 |
c
|
LKD034 |
Leukodystrophy, Hypomyelinating, 21 |
21 |
438 |
c
|
CRB140 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
21 |
439 |
|
CMB101 |
Combined Oxidative Phosphorylation Deficiency 45 |
21 |
440 |
c
|
OCL085 |
Oculopharyngodistal Myopathy 4 |
21 |
441 |
|
MCR370 |
Macrocephaly, Acquired, with Impaired Intellectual Development |
20 |
442 |
|
MTC224 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
20 |
443 |
|
CNT067 |
Central Cord Syndrome |
20 |
444 |
c
|
AMY112 |
Amyotrophic Lateral Sclerosis 25 |
20 |
445 |
|
NRD076 |
Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly |
20 |
446 |
c
|
EPL257 |
Epilepsy, Progressive Myoclonic, 12 |
20 |
447 |
c
|
OCL080 |
Oculopharyngodistal Myopathy 2 |
20 |
448 |
|
CLR148 |
Ciliary Dyskinesia, Primary, 47, and Lissencephaly |
19 |
449 |
|
BBB001 |
Bobble-Head Doll Syndrome |
19 |
450 |
|
RTN207 |
Retinopathy, Pigmentary, and Mental Retardation |
19 |
451 |
|
ABS003 |
Absence of Septum Pellucidum |
18 |
452 |
c
|
CHR731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2ii |
18 |
453 |
|
BRS024 |
Breast Large Cell Neuroendocrine Carcinoma |
18 |
454 |
|
NRD163 |
Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies |
18 |
455 |
c
|
HYD071 |
Hydrocephalus, Normal-Pressure, 1 |
18 |
456 |
|
PRP110 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
17 |
457 |
|
RTR023 |
Retroperitoneal Neuroblastoma |
17 |
458 |
|
ENC073 |
Encephalitis, Acute, Infection -Induced 11 |
17 |
459 |
|
GLL034 |
Gallbladder Neuroendocrine Tumor |
16 |
460 |
c
|
ALP115 |
Alopecia-Intellectual Disability Syndrome 3 |
16 |
461 |
|
CCH008 |
Cochlear Nerve Deficiency |
16 |
462 |
c
|
DYS194 |
Dysautonomia-Like Disorder |
15 |
463 |
|
NRD179 |
Neurodevelopmental Disorder with Speech Impairment and with or Without Seizures |
14 |
464 |
|
INF124 |
Infundibulo-Neurohypophysitis |
14 |
465 |
|
MBS006 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
12 |
466 |
|
MCH015 |
Machado-Joseph Disease and Spinocerebellar Ataxia |
9 |
467 |
|
SYN180 |
Syndromic X-Linked Intellectual Disability Shrimpton Type |
9 |
468 |
|
EXT057 |
Extensive Peripapillary Myelinated Nerve Fibers |
8 |
469 |
|
LNR018 |
Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies |
8 |
470 |
c
|
PPP001 |
Ppp2r5d-Related Intellectual Disability |
8 |
471 |
c
|
CRN299 |
Craniosynostosis Syndrome, Autosomal Recessive |
7 |
472 |
|
FML335 |
Familial Gastric Type 1 Neuroendocrine Tumor |
7 |
473 |
c
|
CRN093 |
Craniosynostosis Autosomal Dominant |
4 |
474 |
|
NRB018 |
Neurobehavioral Disorder with Prenatal Alcohol Exposure |
3 |
475 |
|
NRL011 |
Neurological Consequences of Cytomegalovirus Infection |
3 |
476 |
P
|
ATS364 |
Autism |
74 |
477 |
c
|
ATS007 |
Autism Spectrum Disorder |
70 |
478 |
P
|
ZLL001 |
Zellweger Syndrome |
64 |
479 |
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
53 |
480 |
P
|
NLX004 |
Neu-Laxova Syndrome 1 |
51 |
481 |
|
LNG116 |
Long Covid |
49 |
482 |
|
TRN022 |
Transcobalamin Ii Deficiency |
48 |
483 |
c
|
ZLL011 |
Zellweger Spectrum Disorder |
47 |
484 |
|
LPD009 |
Lipid Storage Disease |
46 |
485 |
P
|
PLL002 |
Pellagra |
46 |
486 |
P
|
BRB001 |
Beriberi |
45 |
487 |
P
|
CRN321 |
Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects |
45 |
488 |
|
SPN362 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
44 |
489 |
c
|
CRN320 |
Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects |
43 |
490 |
c
|
NLX003 |
Neu-Laxova Syndrome 2 |
43 |
491 |
|
MLY001 |
Molybdenum Cofactor Deficiency |
41 |
492 |
|
OHT001 |
Ohtahara Syndrome |
41 |
493 |
|
CLF050 |
Cleft Palate, Cardiac Defects, and Mental Retardation |
40 |
494 |
|
ENC065 |
Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization |
40 |
495 |
P
|
PRS013 |
Prosopagnosia |
39 |
496 |
P
|
HYP263 |
Hypersomnia |
37 |
497 |
P
|
CNG041 |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
36 |
498 |
P
|
HRD217 |
Hereditary Optic Neuropathy |
36 |
499 |
|
SYN177 |
Syndromic X-Linked Intellectual Disability Najm Type |
35 |
500 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
35 |
501 |
|
MLD017 |
Mal De Debarquement Syndrome |
34 |
502 |
|
PRN039 |
Paraneoplastic Syndromes |
33 |
503 |
c
|
ACR084 |
Aicardi-Goutieres Syndrome 7 |
33 |
504 |
|
DYS003 |
Dysgraphia |
33 |
505 |
|
CMB078 |
Combined Oxidative Phosphorylation Deficiency 32 |
33 |
506 |
c
|
HYP698 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
32 |
507 |
c
|
RCR002 |
Recurrent Hypersomnia |
32 |
508 |
|
NRG001 |
Neurogenic Bowel |
32 |
509 |
|
SYN091 |
Syndromic X-Linked Intellectual Disability Nascimento Type |
32 |
510 |
|
GRN006 |
Granulomatous Angiitis |
32 |
511 |
c
|
ADL008 |
Adult Oligodendroglioma |
32 |
512 |
|
CHR718 |
Chromosome 1p36 Deletion Syndrome, Distal |
29 |
513 |
c
|
SVR109 |
Severe Congenital Neutropenia 8 |
28 |
514 |
|
GNT004 |
Gnathomiasis |
28 |
515 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
516 |
c
|
PRS058 |
Prosopagnosia, Hereditary |
28 |
517 |
|
TCH005 |
Tièche-Jadassohn Nevus |
28 |
518 |
|
SYN079 |
Syndromic X-Linked Intellectual Disability Siderius Type |
27 |
519 |
c
|
ENC060 |
Encephalopathy, Acute, Infection-Induced 1 |
27 |
520 |
c
|
BSL032 |
Basal Ganglia Calcification, Idiopathic, 4 |
26 |
521 |
c
|
LKD031 |
Leukodystrophy, Hypomyelinating, 18 |
26 |
522 |
|
PRV020 |
Periventricular Heterotopia with Microcephaly, Autosomal Recessive |
26 |
523 |
c
|
CHR674 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b |
26 |
524 |
|
NZN001 |
Nizon-Isidor Syndrome |
26 |
525 |
c
|
CRP037 |
Carpal Tunnel Syndrome 2 |
26 |
526 |
|
DDN005 |
Duodenal Somatostatinoma |
26 |
527 |
|
MTC094 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
26 |
528 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
529 |
|
DRG004 |
Drug-Induced Mental Disorder |
26 |
530 |
|
TCK002 |
Tick Paralysis |
25 |
531 |
|
RDT018 |
Radio-Tartaglia Syndrome |
25 |
532 |
|
LSS039 |
Lissencephaly 6 with Microcephaly |
25 |
533 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
25 |
534 |
c
|
ATS370 |
Autism 3 |
25 |
535 |
c
|
HRD156 |
Hereditary Central Diabetes Insipidus |
25 |
536 |
c
|
NNS087 |
Non-Syndromic X-Linked Intellectual Disability 93 |
25 |
537 |
|
MYC030 |
Myoclonic Epilepsy Myopathy Sensory Ataxia |
24 |
538 |
|
HLP032 |
Holoprosencephaly 13, X-Linked |
24 |
539 |
|
CHL150 |
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter |
24 |
540 |
c
|
ACR123 |
Aicardi-Goutieres Syndrome 8 |
24 |
541 |
|
NRP027 |
Neuropathy, Painful |
23 |
542 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
23 |
543 |
c
|
ENC037 |
Encephalopathy, Acute, Infection-Induced 6 |
23 |
544 |
c
|
EPL254 |
Epilepsy, Progressive Myoclonic, 11 |
23 |
545 |
c
|
LKD035 |
Leukodystrophy, Hypomyelinating, 22 |
23 |
546 |
P
|
NNP004 |
Nonphotosensitive Trichothiodystrophy |
23 |
547 |
P
|
HYP893 |
Hypomagnesemia, Seizures, and Impaired Intellectual Development 2 |
23 |
548 |
|
MGL040 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Impaired Intellectual Development |
23 |
549 |
c
|
HYP892 |
Hypomagnesemia, Seizures, and Impaired Intellectual Development 1 |
23 |
550 |
c
|
ACQ034 |
Acquired Central Diabetes Insipidus |
23 |
551 |
|
DDN028 |
Duodenal Neuroendocrine Tumor |
23 |
552 |
c
|
MLT124 |
Multiple Sclerosis 5 |
23 |
553 |
c
|
CRN216 |
Craniosynostosis 5 |
23 |
554 |
|
SHK001 |
Shaken Baby Syndrome |
23 |
555 |
c
|
DYS216 |
Dystonia 32 |
23 |
556 |
c
|
JBR051 |
Joubert Syndrome 39 |
23 |
557 |
c
|
ATS376 |
Autism 15 |
22 |
558 |
c
|
ATS474 |
Autism 20 |
22 |
559 |
c
|
ATS369 |
Autism 8 |
22 |
560 |
|
HYD066 |
Hydrocephalus, Congenital, 3, with Brain Anomalies |
22 |
561 |
|
LGH020 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
22 |
562 |
c
|
JBR052 |
Joubert Syndrome 40 |
22 |
563 |
c
|
NNS088 |
Non-Syndromic X-Linked Intellectual Disability 63 |
22 |
564 |
|
SPN409 |
Spongiform Encephalopathy with Neuropsychiatric Features |
22 |
565 |
c
|
ENC063 |
Encephalopathy, Acute, Infection-Induced 7 |
22 |
566 |
|
MTC220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
21 |
567 |
|
MNN022 |
Meningoencephalocele |
21 |
568 |
|
ACT235 |
Acute Macular Neuroretinopathy |
21 |
569 |
|
SPN086 |
Spinal Intradural Arachnoid Cysts |
21 |
570 |
c
|
ENC062 |
Encephalopathy, Acute, Infection-Induced 5 |
21 |
571 |
|
DFF029 |
Diffuse Large B-Cell Lymphoma of the Central Nervous System |
21 |
572 |
|
MTC223 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
20 |
573 |
c
|
ATS378 |
Autism 17 |
20 |
574 |
|
LSC005 |
Luo-Schoch-Yamamoto Syndrome |
20 |
575 |
|
URM001 |
Uremic Neuropathy |
20 |
576 |
|
GNT023 |
Gnathostoma Infection |
20 |
577 |
c
|
ATS377 |
Autism 16 |
20 |
578 |
c
|
NNS093 |
Non-Syndromic X-Linked Intellectual Disability 41 |
19 |
579 |
|
MTC228 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
18 |
580 |
|
NRD055 |
Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum |
18 |
581 |
|
CYS040 |
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation |
18 |
582 |
c
|
ATS371 |
Autism 6 |
18 |
583 |
|
ATM074 |
Autoimmune Autonomic Ganglionopathy |
18 |
584 |
c
|
NNS119 |
Non-Syndromic X-Linked Intellectual Disability 96 |
18 |
585 |
|
JJN001 |
Jejunal Somatostatinoma |
18 |
586 |
c
|
PLL014 |
Pellagra-Like Syndrome |
17 |
587 |
|
SKL027 |
Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal |
17 |
588 |
c
|
CHR121 |
Charcot-Marie-Tooth Neuropathy X Type 5 |
17 |
589 |
|
IDP022 |
Idiopathic Spinal Cord Herniation |
17 |
590 |
c
|
WST009 |
West Nile Virus Encephalitis |
17 |
591 |
|
CRB053 |
Cerebellar Agenesis |
17 |
592 |
c
|
ATS170 |
Autism 19 |
16 |
593 |
|
MNT315 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism |
16 |
594 |
c
|
ATS372 |
Autism 7 |
16 |
595 |
|
SPS218 |
Spastic Diplegia and Mental Retardation |
15 |
596 |
c
|
ATS374 |
Autism 12 |
15 |
597 |
|
NRD172 |
Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss |
15 |
598 |
|
LKD038 |
Leukodystrophy, Childhood-Onset, Remitting |
15 |
599 |
|
CTS046 |
Cutis Verticis Gyrata and Mental Retardation |
15 |
600 |
|
SNR002 |
Sener Syndrome |
15 |
601 |
c
|
ATS171 |
Autism 9 |
15 |
602 |
c
|
ATS172 |
Autism 10 |
15 |
603 |
c
|
ATS373 |
Autism 11 |
14 |
604 |
|
CRN103 |
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
14 |
605 |
c
|
ATS375 |
Autism 13 |
14 |
606 |
|
KLM001 |
Klumpke Paralysis |
14 |
607 |
|
SPS193 |
Spastic Paraplegia, Epilepsy, and Mental Retardation |
14 |
608 |
|
CRM012 |
Cree Mental Retardation Syndrome |
14 |
609 |
|
GRW038 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy |
13 |
610 |
P
|
ATP015 |
Atp1a3-Related Neurologic Disorders |
13 |
611 |
|
OCL024 |
Ocular Neuromyotonia |
13 |
612 |
|
EHL082 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
13 |
613 |
|
GNT082 |
Genetic Neuromuscular Disease |
13 |
614 |
|
NRN032 |
Neuroendocrine Tumor of Anal Canal |
12 |
615 |
|
MNT030 |
Mental Retardation Syndrome, Belgian Type |
12 |
616 |
c
|
NNS122 |
Non-Syndromic X-Linked Intellectual Disability 98 |
12 |
617 |
|
MYT024 |
Myotonia with Skeletal Abnormalities and Mental Retardation |
12 |
618 |
|
NTR055 |
Ntrk1 Congenital Insensitivity to Pain with Anhidrosis |
12 |
619 |
|
SPN396 |
Spinal Muscular Atrophy with Mental Retardation |
12 |
620 |
|
MSC159 |
Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers |
12 |
621 |
|
NRL021 |
Neurologic Disease, Infantile Multisystem, with Osseous Fragility |
12 |
622 |
|
CHR580 |
Choroid Plexus Calcification and Mental Retardation |
12 |
623 |
|
CTR179 |
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy |
12 |
624 |
|
DFN340 |
Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease |
11 |
625 |
|
MDN009 |
Median-Ulnar Nerve Communications |
11 |
626 |
|
SPN388 |
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy |
11 |
627 |
c
|
CTD001 |
Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
11 |
628 |
|
GNT083 |
Genetic Neurodegenerative Disease |
11 |
629 |
P
|
FTL014 |
Fetal Brain Disruption Sequence |
11 |
630 |
|
MNT255 |
Mental Retardation and Psoriasis |
11 |
631 |
|
FCL076 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
11 |
632 |
|
MND028 |
Mandibulofacial Dysostosis with Mental Retardation |
11 |
633 |
|
OPH019 |
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria |
11 |
634 |
|
NRP069 |
Neuro-Ophthalmological Disease |
11 |
635 |
|
SCR041 |
Sucrosuria, Hiatus Hernia and Mental Retardation |
11 |
636 |
|
NRP061 |
Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia |
10 |
637 |
|
LRY052 |
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy |
10 |
638 |
|
MRF017 |
Marfanoid Mental Retardation Syndrome, Autosomal |
10 |
639 |
|
LCL011 |
Localized Hypertrophic Neuropathy |
10 |
640 |
|
VTL010 |
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication |
10 |
641 |
c
|
DDX004 |
Ddx3x-Related Neurodevelopmental Disorder |
10 |
642 |
c
|
NNS130 |
Non-Syndromic X-Linked Intellectual Disability 23 |
10 |
643 |
|
MNT299 |
Mental and Growth Retardation with Amblyopia |
10 |
644 |
|
ELC003 |
Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus |
10 |
645 |
|
ICH027 |
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin |
9 |
646 |
P
|
DCT005 |
Dctn1-Related Neurodegeneration |
9 |
647 |
|
CHD011 |
Chd8-Related Neurodevelopmental Disorder with Overgrowth |
9 |
648 |
|
LNT009 |
Lentiginosis, Centrofacial Neurodysraphic |
9 |
649 |
c
|
NNS128 |
Non-Syndromic X-Linked Intellectual Disability 73 |
9 |
650 |
|
EBF001 |
Ebf3 Neurodevelopmental Disorder |
9 |
651 |
|
SPT025 |
Sptbn4 Disorder |
9 |
652 |
|
STD002 |
Setd2 Neurodevelopmental Disorders |
9 |
653 |
|
CHR628 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
9 |
654 |
|
NRP052 |
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine |
9 |
655 |
P
|
CRN291 |
Cranial Nerves, Recurrent Paresis of |
9 |
656 |
|
CHD008 |
Chd4 Neurodevelopmental Disorder |
9 |
657 |
|
HYP778 |
Hypertrophic Neuropathy and Cataract |
9 |
658 |
|
MNT250 |
Mental Retardation with Spastic Paraplegia |
8 |
659 |
|
MDF003 |
Modifier, X-Linked, for Neurofunctional Defects |
8 |
660 |
c
|
SVR017 |
Severe Infantile Axonal Neuropathy |
8 |
661 |
|
PPP003 |
Ppp1r12a-Related Urogenital and/or Brain Malformation Syndrome |
8 |
662 |
|
PRL043 |
Poorly Differentiated Thymic Neuroendocrine Carcinoma |
8 |
663 |
|
HYP797 |
Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses |
8 |
664 |
|
GRS015 |
Gars1-Associated Axonal Neuropathy |
8 |
665 |
|
BSC007 |
Bscl2-Related Neurologic Disorders / Seipinopathy |
8 |
666 |
|
CRT047 |
Creatine Kinase, Brain Type, Ectopic Expression of |
7 |
667 |
|
SCN086 |
Scn9a Neuropathic Pain Syndromes |
7 |
668 |
|
GNT121 |
Genetic Cerebral Malformation |
7 |
669 |
c
|
GNR049 |
Gan-Related Neurodegeneration |
7 |
670 |
c
|
CRN290 |
Cranial Nerves, Congenital Paresis of |
7 |
671 |
|
ALK018 |
Alk-Related Neuroblastic Tumor Susceptibility |
7 |
672 |
c
|
INF044 |
Infantile Axonal Neuropathy |
7 |
673 |
|
NRV014 |
Neurovisceral Storage Disease with Curvilinear Bodies |
7 |
674 |
c
|
RRD010 |
Rare Disease with Autism |
7 |
675 |
|
SPN453 |
Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability |
7 |
676 |
c
|
CLC065 |
Clcn4-Related Neurodevelopmental Disorder |
7 |
677 |
P
|
BNG037 |
Benign Angiitis of the Central Nervous System |
6 |
678 |
c
|
NNS120 |
Non-Syndromic X-Linked Intellectual Disability 105 |
6 |
679 |
|
BYL002 |
Boylan Dew Greco Syndrome |
6 |
680 |
|
CTS013 |
Cutis Verticis Gyrata Mental Deficiency |
6 |
681 |
|
SHR110 |
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
6 |
682 |
|
NRP056 |
Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive |
6 |
683 |
|
MCR344 |
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation |
6 |
684 |
|
EMP013 |
Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation |
5 |
685 |
|
SYN121 |
Syndromic Hereditary Optic Neuropathy |
5 |
686 |
|
RRP021 |
Rare Ophthalmic Disorder with Cranial Nerve Involvement |
5 |
687 |
|
ANM047 |
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome |
5 |
688 |
|
MSC208 |
Mosaic Legius Syndrome |
5 |
689 |
|
CNT053 |
Cantu Sanchez-Corona Fragoso Syndrome |
5 |
690 |
|
ATS441 |
Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs |
5 |
691 |
|
GNT081 |
Genetic Central Nervous System Malformation |
5 |
692 |
|
DRC003 |
Drachtman Weinblatt Sitarz Syndrome |
5 |
693 |
|
GNT187 |
Genetic Syndrome with a Central Nervous System Malformation As a Major Feature |
4 |
694 |
|
GLT033 |
Glutamic Acid Decarboxylase, Brain, Membrane Form |
4 |
695 |
|
KZN001 |
Kuzniecky Andermann Syndrome |
4 |
696 |
|
GNT058 |
Genetic Neuro-Ophthalmological Disease |
4 |
697 |
c
|
RRT018 |
Rare Trochlear Nerve Disorder |
4 |
698 |
|
SYN094 |
Syndromic X-Linked Mental Retardation Hough Type |
4 |
699 |
|
DSR086 |
Disorder with Optic Nerve Compression |
4 |
700 |
|
RRC030 |
Rare Oculomotor Nerve Disorder |
4 |
701 |
|
GST109 |
Gastroenteric Neuroendocrine Neoplasm |
3 |
702 |
|
GNT120 |
Genetic Non-Syndromic Central Nervous System Malformation |
3 |
703 |
|
DSR082 |
Disorder of Neurotransmitter Metabolism and Transport |
3 |
704 |
|
GNT080 |
Genetic Central Nervous System and Retinal Vascular Disease |
3 |
705 |
|
GNT153 |
Genetic Neurovascular Malformation |
3 |
706 |
|
ATX012 |
Ataxias and Cerebellar or Spinocerebellar Degeneration |
3 |
707 |
|
CRN091 |
Craniosynostosis Alopecia Brain Defect |
3 |
708 |
|
EPD081 |
Epidermoid Brain Cyst |
3 |
709 |
c
|
MSC195 |
Miscellaneous Movement Disorder Due to Genetic Neurodegenerative Disease |
3 |
710 |
|
NRN048 |
Neuroendocrine Tumor with Other Location |
3 |
711 |
|
DSR018 |
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement |
3 |
712 |
|
DSR017 |
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement |
3 |
713 |
|
RRG067 |
Rare Genetic Ophthalmic Disorder with Cranial Nerve Involvement |
3 |
714 |
|
GNT110 |
Genetic Neurodegenerative Disease with Dementia |
3 |
715 |
|
GNT115 |
Genetic Neuroendocrine Tumor |
2 |
716 |
|
KF1004 |
Kif1a-Associated Neurological Disorder |
2 |
717 |
|
QLT010 |
Qualitative or Quantitative Protein Defects in Neuromuscular Diseases |
2 |
718 |
|
LMN009 |
Laminopathy with Peripheral Neuropathy |
2 |
719 |
|
HYP234 |
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response |
2 |
720 |
|
DFN018 |
Deafness Peripheral Neuropathy Arterial Disease |
2 |
721 |
|
DFN012 |
Deafness Mesenteric Diverticula of Small Bowel Neuropathy |
2 |
722 |
|
CRN305 |
Corneal Neuropathic Disease |
1 |
723 |
|
CHR279 |
Chronic Demyelinizing Neuropathy with Igm Monoclonal |
1 |
724 |
|
NDM001 |
Nedamss Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures |
1 |
725 |
|
FCL024 |
Focal or Multifocal Malformations in Neuronal Migration |
1 |
726 |
|
RTN074 |
Retinopathy Aplastic Anemia Neurological Abnormalities |
1 |
727 |
|
NRN007 |
Neuronal Interstitial Dysplasia |
1 |
728 |
P
|
ATX030 |
Ataxia-Telangiectasia |
81 |
729 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
81 |
730 |
P
|
MLT020 |
Multiple Sclerosis |
81 |
731 |
P
|
RTT002 |
Rett Syndrome |
78 |
732 |
P
|
SCH015 |
Schizophrenia |
76 |
733 |
|
SCH036 |
Scheie Syndrome |
75 |
734 |
|
ADR007 |
Adrenoleukodystrophy |
75 |
735 |
|
MYL069 |
Myeloma, Multiple |
75 |
736 |
c
|
TBR025 |
Tuberous Sclerosis 1 |
74 |
737 |
c
|
MSM022 |
Mismatch Repair Cancer Syndrome 1 |
73 |
738 |
P
|
LFR001 |
Li-Fraumeni Syndrome |
73 |
739 |
P
|
HNT016 |
Huntington Disease |
72 |
740 |
c
|
GLY008 |
Glycogen Storage Disease Ii |
72 |
741 |
P
|
MTC003 |
Metachromatic Leukodystrophy |
72 |
742 |
P
|
FRG001 |
Fragile X Syndrome |
69 |
743 |
P
|
DYS007 |
Dyskeratosis Congenita |
69 |
744 |
|
LGH007 |
Leigh Syndrome |
69 |
745 |
P
|
SHW006 |
Shwachman-Diamond Syndrome 1 |
68 |
746 |
P
|
TBR001 |
Tuberous Sclerosis |
68 |
747 |
c
|
MGR028 |
Migraine with or Without Aura 1 |
67 |
748 |
P
|
MYP004 |
Myopathy |
67 |
749 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
67 |
750 |
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
67 |
751 |
P
|
GLC113 |
Galactosemia I |
66 |
752 |
c
|
CRB175 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 |
66 |
753 |
|
GLS018 |
Glass Syndrome |
66 |
754 |
c
|
MCL013 |
Mucolipidosis Iv |
66 |
755 |
c
|
EPS035 |
Episodic Ataxia, Type 2 |
66 |
756 |
c
|
GM1007 |
Gm1 Gangliosidosis |
66 |
757 |
c
|
GLY060 |
Glycogen Storage Disease Ia |
66 |
758 |
|
SPT006 |
Septooptic Dysplasia |
65 |
759 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
65 |
760 |
|
ORN008 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to |
64 |
761 |
|
APR006 |
Apert Syndrome |
64 |
762 |
|
FCL009 |
Focal Dermal Hypoplasia |
64 |
763 |
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
64 |
764 |
|
CHN016 |
Cohen Syndrome |
64 |
765 |
|
TNG002 |
Tangier Disease |
64 |
766 |
c
|
TBR026 |
Tuberous Sclerosis 2 |
63 |
767 |
|
NNN026 |
Noonan Syndrome with Multiple Lentigines |
63 |
768 |
P
|
HYD006 |
Hydrocephalus |
63 |
769 |
|
WLL001 |
Williams-Beuren Syndrome |
63 |
770 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
63 |
771 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
62 |
772 |
c
|
NMN016 |
Niemann-Pick Disease, Type B |
62 |
773 |
|
HRP004 |
Herpes Zoster |
62 |
774 |
P
|
ANR048 |
Aniridia 1 |
62 |
775 |
P
|
PLY017 |
Polyarteritis Nodosa |
62 |
776 |
|
CNT105 |
Central Core Disease of Muscle |
62 |
777 |
|
TRG002 |
Trigeminal Neuralgia |
61 |
778 |
|
GLT035 |
Glutaric Acidemia I |
61 |
779 |
|
MTH054 |
Methylmalonic Aciduria and Homocystinuria, Cblc Type |
61 |
780 |
P
|
GLL022 |
Guillain-Barre Syndrome |
61 |
781 |
|
ERL001 |
Early Myoclonic Encephalopathy |
61 |
782 |
c
|
OTP007 |
Otopalatodigital Syndrome, Type Ii |
61 |
783 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
60 |
784 |
|
CYS005 |
Cysticercosis |
60 |
785 |
|
WVR001 |
Weaver Syndrome |
60 |
786 |
c
|
GLY005 |
Glycogen Storage Disease Vi |
59 |
787 |
P
|
GLY013 |
Glycogen Storage Disease |
59 |
788 |
P
|
MYM013 |
Moyamoya Disease 1 |
59 |
789 |
|
OCC006 |
Occipital Horn Syndrome |
59 |
790 |
P
|
LKD001 |
Leukodystrophy |
59 |
791 |
c
|
EPS042 |
Episodic Ataxia, Type 1 |
58 |
792 |
|
PMS001 |
Poems Syndrome |
58 |
793 |
c
|
TLN006 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
58 |
794 |
|
SPN186 |
Spinal Cord Injury |
57 |
795 |
P
|
CTS001 |
Cutis Laxa |
57 |
796 |
|
LNN001 |
Lennox-Gastaut Syndrome |
57 |
797 |
|
SJG002 |
Sjogren-Larsson Syndrome |
57 |
798 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
57 |
799 |
c
|
CNT016 |
Central Retinal Vein Occlusion |
57 |
800 |
P
|
PRK039 |
Parkinsonism |
57 |
801 |
c
|
MCL046 |
Mucolipidosis Iii Alpha/beta |
57 |
802 |
|
GRS011 |
Gerstmann-Straussler Disease |
56 |
803 |
|
RLP002 |
Relapsing-Remitting Multiple Sclerosis |
56 |
804 |
|
PRT058 |
Pure Autonomic Failure |
56 |
805 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
56 |
806 |
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
56 |
807 |
|
VGT001 |
Vogt-Koyanagi-Harada Disease |
55 |
808 |
|
KBG001 |
Kbg Syndrome |
55 |
809 |
P
|
LTR009 |
Lateral Meningocele Syndrome |
55 |
810 |
c
|
GLC111 |
Galactosemia Ii |
55 |
811 |
|
AMY084 |
Amyloidosis, Finnish Type |
55 |
812 |
P
|
SCK004 |
Seckel Syndrome |
55 |
813 |
c
|
ESS001 |
Essential Tremor |
55 |
814 |
|
HLS003 |
Helsmoortel-Van Der Aa Syndrome |
54 |
815 |
P
|
SLV027 |
Silver-Russell Syndrome 1 |
54 |
816 |
|
SPN041 |
Spinal Cord Disease |
54 |
817 |
c
|
MCR240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
54 |
818 |
|
MNN032 |
Meningococcal Meningitis |
54 |
819 |
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
54 |
820 |
P
|
TRM003 |
Tremor |
54 |
821 |
|
MLT135 |
Multiple Sulfatase Deficiency |
53 |
822 |
|
CRN041 |
Carnitine-Acylcarnitine Translocase Deficiency |
53 |
823 |
P
|
FNG006 |
Feingold Syndrome 1 |
53 |
824 |
|
FCL014 |
Focal Epilepsy |
53 |
825 |
c
|
GLC112 |
Galactosemia Iii |
53 |
826 |
|
NRT004 |
Neuritis |
53 |
827 |
|
CHP002 |
Chops Syndrome |
53 |
828 |
|
SZR026 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance |
53 |
829 |
|
DBT010 |
Diabetic Neuropathy |
53 |
830 |
c
|
CNG216 |
Congenital Hydrocephalus |
53 |
831 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
832 |
c
|
TRC091 |
Trichorhinophalangeal Syndrome, Type Ii |
52 |
833 |
|
HMP005 |
Hemiplegia |
52 |
834 |
P
|
FBR031 |
Febrile Seizures |
52 |
835 |
|
YNS002 |
Yunis-Varon Syndrome |
52 |
836 |
|
MND020 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
52 |
837 |
|
JHN001 |
Johanson-Blizzard Syndrome |
52 |
838 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
52 |
839 |
P
|
FRN012 |
Frontometaphyseal Dysplasia |
52 |
840 |
P
|
ANN002 |
Anencephaly |
52 |
841 |
|
BRD054 |
Brody Disease |
52 |
842 |
c
|
PRG011 |
Progressive Myoclonus Epilepsy |
52 |
843 |
c
|
MTC063 |
Mitochondrial Dna Depletion Syndrome 3 |
52 |
844 |
c
|
CRD182 |
Ceroid Lipofuscinosis, Neuronal, 10 |
52 |
845 |
|
NRL004 |
Neuroleptic Malignant Syndrome |
51 |
846 |
|
KRT006 |
Keratoconjunctivitis |
51 |
847 |
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
51 |
848 |
c
|
FRN059 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 |
51 |
849 |
P
|
MGR003 |
Migraine with Aura |
51 |
850 |
P
|
CRN025 |
Corneal Dystrophy |
51 |
851 |
c
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
51 |
852 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
51 |
853 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
51 |
854 |
|
SPS007 |
Spastic Cerebral Palsy |
51 |
855 |
c
|
D2H002 |
D-2-Hydroxyglutaric Aciduria 1 |
51 |
856 |
P
|
MNN007 |
Meningocele |
50 |
857 |
|
OHD005 |
Ohdo Syndrome, Sbbys Variant |
50 |
858 |
c
|
PRG131 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 |
50 |
859 |
|
FCL012 |
Facial Paralysis |
50 |
860 |
|
SND002 |
Sneddon Syndrome |
50 |
861 |
|
3MT013 |
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome |
50 |
862 |
|
INT075 |
Intracranial Hypertension |
50 |
863 |
|
ENC054 |
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations |
50 |
864 |
|
TTH004 |
Tethered Spinal Cord Syndrome |
50 |
865 |
P
|
MCL001 |
Mucolipidosis |
50 |
866 |
|
SCH074 |
Schuurs-Hoeijmakers Syndrome |
50 |
867 |
|
SBP001 |
Subependymal Giant Cell Astrocytoma |
50 |
868 |
c
|
HNT004 |
Huntington Disease-Like 2 |
49 |
869 |
|
MCR088 |
Microscopic Polyangiitis |
49 |
870 |
c
|
MCL016 |
Mucolipidosis Iii Gamma |
49 |
871 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
872 |
c
|
EPS017 |
Episodic Ataxia, Type 6 |
49 |
873 |
c
|
CHR095 |
Chronic Progressive External Ophthalmoplegia |
49 |
874 |
P
|
BHR002 |
Bohring-Opitz Syndrome |
49 |
875 |
P
|
MGR001 |
Migraine Without Aura |
48 |
876 |
|
BLL004 |
Bullous Keratopathy |
48 |
877 |
|
MYC072 |
Myoclonic Epilepsy Associated with Ragged-Red Fibers |
48 |
878 |
P
|
SCL015 |
Scleritis |
48 |
879 |
|
PLY024 |
Polymicrogyria |
48 |
880 |
|
CRB142 |
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant |
48 |
881 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
882 |
c
|
JBR013 |
Joubert Syndrome 8 |
48 |
883 |
|
HYP059 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
48 |
884 |
c
|
PRM108 |
Primary Progressive Multiple Sclerosis |
48 |
885 |
|
MNN009 |
Meningoencephalitis |
48 |
886 |
|
SPN402 |
Spinal Muscular Atrophy, X-Linked 2 |
48 |
887 |
c
|
DYS152 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
48 |
888 |
|
THR013 |
Thoracic Outlet Syndrome |
48 |
889 |
|
PRL019 |
Prolidase Deficiency |
47 |
890 |
|
CNZ005 |
Coenzyme Q10 Deficiency, Primary, 4 |
47 |
891 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
47 |
892 |
|
SML028 |
Semilobar Holoprosencephaly |
47 |
893 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
47 |
894 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
895 |
c
|
EPS034 |
Episodic Ataxia, Type 5 |
47 |
896 |
|
EPT021 |
Epithelial Recurrent Erosion Dystrophy |
47 |
897 |
|
CCN001 |
Cocaine Dependence |
47 |
898 |
c
|
HLP027 |
Holoprosencephaly 7 |
47 |
899 |
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
900 |
c
|
MTC059 |
Mitochondrial Dna Depletion Syndrome 5 |
47 |
901 |
|
PTH003 |
Pathologic Nystagmus |
47 |
902 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
47 |
903 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
47 |
904 |
P
|
MSM014 |
Mismatch Repair Cancer Syndrome |
47 |
905 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
906 |
c
|
JBR024 |
Joubert Syndrome 14 |
47 |
907 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
46 |
908 |
|
WHT019 |
White-Sutton Syndrome |
46 |
909 |
|
UNV001 |
Unverricht-Lundborg Syndrome |
46 |
910 |
|
SYN036 |
Syncope |
46 |
911 |
c
|
DYS059 |
Dystonia 16 |
46 |
912 |
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
46 |
913 |
|
HSD004 |
Hsd10 Mitochondrial Disease |
46 |
914 |
c
|
GLL037 |
Guillain-Barre Syndrome, Familial |
46 |
915 |
P
|
PLY020 |
Polyradiculoneuropathy |
46 |
916 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
917 |
|
MCL009 |
Mcleod Syndrome |
46 |
918 |
c
|
DYS143 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
46 |
919 |
c
|
JBR043 |
Joubert Syndrome 32 |
46 |
920 |
c
|
JBR031 |
Joubert Syndrome 21 |
46 |
921 |
|
QDR001 |
Quadriplegia |
46 |
922 |
c
|
HNT010 |
Huntington Disease-Like 1 |
46 |
923 |
|
HNN001 |
Hennekam Syndrome |
46 |
924 |
c
|
GLY016 |
Glycogen Storage Disease Ib |
46 |
925 |
P
|
DMY001 |
Demyelinating Polyneuropathy |
46 |
926 |
P
|
SPS008 |
Spastic Ataxia |
45 |
927 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
45 |
928 |
c
|
DYS141 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
45 |
929 |
c
|
GM2006 |
Gm2 Gangliosidosis |
45 |
930 |
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
45 |
931 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
932 |
c
|
FBR070 |
Febrile Seizures, Familial, 8 |
45 |
933 |
|
RNP003 |
Renpenning Syndrome 1 |
45 |
934 |
c
|
ALZ062 |
Alzheimer Disease 19 |
45 |
935 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
45 |
936 |
P
|
TRN034 |
Transverse Myelitis |
45 |
937 |
|
GNG008 |
Ganglioneuroblastoma |
45 |
938 |
c
|
SCN036 |
Secondary Progressive Multiple Sclerosis |
45 |
939 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
940 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
44 |
941 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
942 |
c
|
NGH010 |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 |
44 |
943 |
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
44 |
944 |
c
|
SCK009 |
Seckel Syndrome 1 |
44 |
945 |
|
LNG015 |
Lingual-Facial-Buccal Dyskinesia |
44 |
946 |
|
VTR003 |
Vitreous Detachment |
44 |
947 |
|
MCR099 |
Microlissencephaly |
44 |
948 |
P
|
CRN026 |
Corneal Edema |
44 |
949 |
|
BCK003 |
Background Diabetic Retinopathy |
44 |
950 |
|
MYH012 |
Myhre Syndrome |
44 |
951 |
|
CNJ012 |
Conjunctival Disease |
44 |
952 |
c
|
ATM099 |
Autoimmune Uveitis |
44 |
953 |
|
KRT008 |
Keratopathy |
44 |
954 |
|
HYP034 |
Hypertensive Encephalopathy |
44 |
955 |
P
|
CMM008 |
Communicating Hydrocephalus |
43 |
956 |
c
|
GLY044 |
Glycogen Storage Disease Ixc |
43 |
957 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
43 |
958 |
|
WDM005 |
Wiedemann-Rautenstrauch Syndrome |
43 |
959 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
960 |
c
|
DYS147 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
43 |
961 |
c
|
CTR130 |
Cataract 9, Multiple Types |
43 |
962 |
c
|
HYD019 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
43 |
963 |
|
EPL001 |
Epilepsy with Generalized Tonic-Clonic Seizures |
43 |
964 |
|
CNT063 |
Continuous Spike-Wave During Slow Sleep Syndrome |
43 |
965 |
|
OBS004 |
Obstructive Hydrocephalus |
43 |
966 |
|
INF159 |
Infantile Sialic Acid Storage Disease |
43 |
967 |
|
ENC005 |
Encephalomalacia |
43 |
968 |
c
|
MYC083 |
Myoclonic Epilepsy, Familial Infantile |
43 |
969 |
|
NTR007 |
Neutral Lipid Storage Disease with Myopathy |
42 |
970 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
42 |
971 |
|
EXT022 |
Exotropia |
42 |
972 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
42 |
973 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
974 |
c
|
DYS149 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
42 |
975 |
|
RFL002 |
Reflex Epilepsy |
42 |
976 |
|
SCH037 |
Schinzel-Giedion Midface Retraction Syndrome |
42 |
977 |
|
CDK006 |
Cdkl5 Deficiency Disorder |
41 |
978 |
P
|
FML186 |
Familial Paroxysmal Nonkinesigenic Dyskinesia |
41 |
979 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
41 |
980 |
P
|
CRN024 |
Corneal Disease |
41 |
981 |
c
|
SCK010 |
Seckel Syndrome 4 |
41 |
982 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
41 |
983 |
|
MLT150 |
Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia |
41 |
984 |
c
|
CHR086 |
Chronic Conjunctivitis |
41 |
985 |
|
LWG006 |
Low Grade Glioma |
41 |
986 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
41 |
987 |
|
KPR003 |
Keipert Syndrome |
41 |
988 |
|
CRB081 |
Cerebellar Ataxia, Cayman Type |
41 |
989 |
|
IFP002 |
Ifap Syndrome 1, with or Without Bresheck Syndrome |
41 |
990 |
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
991 |
c
|
FRN049 |
Frontometaphyseal Dysplasia 1 |
41 |
992 |
|
HMF008 |
Hemifacial Atrophy, Progressive |
41 |
993 |
|
ANG004 |
Angioid Streaks |
41 |
994 |
|
CHR661 |
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction |
41 |
995 |
c
|
SCK015 |
Seckel Syndrome 2 |
40 |
996 |
|
PLY110 |
Polymicrogyria, Bilateral Temporooccipital |
40 |
997 |
|
HYP084 |
Hypopyon |
40 |
998 |
c
|
ALP076 |
Alopecia-Mental Retardation Syndrome 1 |
40 |
999 |
|
LNS001 |
Lens Subluxation |
40 |
1000 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
40 |
1001 |
|
FRY002 |
Fryns Syndrome |
40 |
1002 |
c
|
JBR030 |
Joubert Syndrome 22 |
40 |
1003 |
P
|
CRB188 |
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy |
40 |
1004 |
P
|
CRB045 |
Cerebellar Hypoplasia |
40 |
1005 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
40 |
1006 |
c
|
SCH079 |
Schizophrenia 1 |
40 |
1007 |
|
INT409 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
40 |
1008 |
|
IDM001 |
Ideomotor Apraxia |
40 |
1009 |
c
|
TLN011 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
40 |
1010 |
P
|
CNG024 |
Congenital Nystagmus |
40 |
1011 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
40 |
1012 |
|
BDY001 |
Body Dysmorphic Disorder |
40 |
1013 |
c
|
HYP519 |
Hyperekplexia 3 |
39 |
1014 |
c
|
DYS173 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
39 |
1015 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
39 |
1016 |
c
|
PRM212 |
Primary Microcephaly |
39 |
1017 |
P
|
CNG629 |
Congenital Disorder of Deglycosylation 1 |
39 |
1018 |
|
TBL035 |
Tubulinopathy |
39 |
1019 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
39 |
1020 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
1021 |
c
|
JBR028 |
Joubert Syndrome 13 |
39 |
1022 |
|
48X003 |
48,xxyy Syndrome |
39 |
1023 |
c
|
DYS174 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
39 |
1024 |
|
CRT009 |
Critical Illness Polyneuropathy |
39 |
1025 |
c
|
HYP510 |
Hyperekplexia 2 |
39 |
1026 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
39 |
1027 |
c
|
DVL103 |
Developmental and Epileptic Encephalopathy 80 |
39 |
1028 |
|
SCR011 |
Scrapie |
38 |
1029 |
c
|
TRC093 |
Trichorhinophalangeal Syndrome, Type Iii |
38 |
1030 |
|
SLT014 |
Salt and Pepper Developmental Regression Syndrome |
38 |
1031 |
|
PRM056 |
Primrose Syndrome |
38 |
1032 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
38 |
1033 |
c
|
FBR072 |
Febrile Seizures, Familial, 11 |
38 |
1034 |
|
CRN022 |
Corneal Degeneration |
38 |
1035 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
38 |
1036 |
|
GTP002 |
Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
38 |
1037 |
|
MLN088 |
Malan Syndrome |
38 |
1038 |
|
HYP026 |
Hypoglycemic Coma |
38 |
1039 |
|
CRN294 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
38 |
1040 |
P
|
UVS001 |
Uv-Sensitive Syndrome |
38 |
1041 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
38 |
1042 |
|
DBT081 |
Diabetic Encephalopathy |
38 |
1043 |
c
|
NGH008 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
38 |
1044 |
c
|
ATX040 |
Ataxia-Telangiectasia-Like Disorder 1 |
38 |
1045 |
P
|
SCH077 |
Schwannomatosis 1 |
38 |
1046 |
c
|
SCH056 |
Schizophrenia 15 |
38 |
1047 |
|
EHR002 |
Ehrlichiosis |
38 |
1048 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
38 |
1049 |
c
|
FBR069 |
Febrile Seizures, Familial, 4 |
37 |
1050 |
|
ARC023 |
Arcus Corneae |
37 |
1051 |
c
|
EPL209 |
Epilepsy, Idiopathic Generalized 10 |
37 |
1052 |
|
CRN288 |
Corneal Dystrophy, Band-Shaped |
37 |
1053 |
|
ANT019 |
Anterograde Amnesia |
37 |
1054 |
c
|
ACT067 |
Acute Conjunctivitis |
37 |
1055 |
c
|
SCK029 |
Seckel Syndrome 7 |
37 |
1056 |
P
|
PRR032 |
Pura-Related Neurodevelopmental Disorders |
37 |
1057 |
|
INT042 |
Internuclear Ophthalmoplegia |
37 |
1058 |
|
DYS001 |
Dyskinetic Cerebral Palsy |
37 |
1059 |
P
|
THY054 |
Thyrotoxic Periodic Paralysis |
37 |
1060 |
c
|
JBR021 |
Joubert Syndrome 18 |
37 |
1061 |
P
|
SCL013 |
Scleral Disease |
37 |
1062 |
c
|
GLY043 |
Glycogen Storage Disease Xii |
37 |
1063 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
37 |
1064 |
|
UVL008 |
Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability |
37 |
1065 |
c
|
EPS033 |
Episodic Ataxia, Type 8 |
37 |
1066 |
c
|
SCK011 |
Seckel Syndrome 5 |
37 |
1067 |
|
SCR035 |
Sacral Agenesis with Vertebral Anomalies |
37 |
1068 |
|
RCR001 |
Recurrent Corneal Erosion |
37 |
1069 |
|
DGN002 |
Degenerative Myopia |
36 |
1070 |
|
RHB002 |
Rhabdoid Meningioma |
36 |
1071 |
P
|
SCL047 |
Sclerocornea |
36 |
1072 |
|
SCR001 |
Secretory Meningioma |
36 |
1073 |
|
CMB015 |
Combined Oxidative Phosphorylation Deficiency 4 |
36 |
1074 |
|
INT003 |
Intracranial Hypotension |
36 |
1075 |
c
|
FRN048 |
Frontometaphyseal Dysplasia 2 |
36 |
1076 |
|
IDH005 |
Idh-Wildtype Glioblastoma |
36 |
1077 |
c
|
DYS150 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
36 |
1078 |
c
|
NGH021 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
36 |
1079 |
|
MLN009 |
Melanotic Neurilemmoma |
36 |
1080 |
|
CHR079 |
Choroid Disease |
36 |
1081 |
c
|
MCR109 |
Microphthalmia, Isolated 4 |
36 |
1082 |
c
|
ERL020 |
Early-Onset Schizophrenia |
36 |
1083 |
|
CLR011 |
Clear Cell Ependymoma |
36 |
1084 |
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
36 |
1085 |
c
|
GLY006 |
Glycogen Storage Disease Viii |
36 |
1086 |
c
|
EPS037 |
Episodic Ataxia, Type 4 |
36 |
1087 |
c
|
ATS025 |
Autosomal Dominant Progressive External Ophthalmoplegia |
36 |
1088 |
|
ATM081 |
Autoimmune Disease, Multisystem, with Facial Dysmorphism |
35 |
1089 |
|
ADM001 |
Adamantinous Craniopharyngioma |
35 |
1090 |
|
CNJ007 |
Conjunctivochalasis |
35 |
1091 |
c
|
PRK070 |
Parkinson Disease 21 |
35 |
1092 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
35 |
1093 |
|
CMP006 |
Complex Partial Epilepsy |
35 |
1094 |
c
|
LFR009 |
Li-Fraumeni Syndrome 1 |
35 |
1095 |
|
RBS002 |
Rubeosis Iridis |
35 |
1096 |
|
PKL002 |
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis |
35 |
1097 |
|
KLV001 |
Kluver-Bucy Syndrome |
35 |
1098 |
|
HYD048 |
Hydrocephalus with Stenosis of the Aqueduct of Sylvius |
35 |
1099 |
c
|
ANR050 |
Aneurysm, Intracranial Berry, 12 |
35 |
1100 |
c
|
TRM024 |
Tremor, Hereditary Essential, 1 |
35 |
1101 |
|
CRT078 |
Corticobasal Syndrome |
35 |
1102 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
35 |
1103 |
c
|
LFR007 |
Li-Fraumeni Syndrome 2 |
35 |
1104 |
|
CRB009 |
Cerebritis |
35 |
1105 |
|
PNC012 |
Punctate Epithelial Keratoconjunctivitis |
35 |
1106 |
c
|
HNT011 |
Huntington Disease-Like 3 |
35 |
1107 |
c
|
EPL155 |
Epilepsy, Progressive Myoclonic, 8 |
35 |
1108 |
c
|
CHR091 |
Chronic Meningitis |
35 |
1109 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
35 |
1110 |
c
|
EPL133 |
Epilepsy, Juvenile Absence 1 |
35 |
1111 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
34 |
1112 |
|
ALZ030 |
Alazami Syndrome |
34 |
1113 |
|
WLL004 |
Wallerian Degeneration |
34 |
1114 |
|
PRT006 |
Partial Motor Epilepsy |
34 |
1115 |
|
LMB069 |
Lamb-Shaffer Syndrome |
34 |
1116 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
1117 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
34 |
1118 |
c
|
RTT008 |
Rett Syndrome, Congenital Variant |
34 |
1119 |
|
MLT105 |
Multiple System Atrophy, Cerebellar Type |
34 |
1120 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
34 |
1121 |
c
|
ANT023 |
Anterior Scleritis |
34 |
1122 |
c
|
EPL134 |
Epilepsy, Progressive Myoclonic 7 |
34 |
1123 |
|
INT370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
34 |
1124 |
|
PPL019 |
Papillary Conjunctivitis |
34 |
1125 |
|
CHR028 |
Chronic Wasting Disease |
34 |
1126 |
c
|
RNG029 |
Ring Chromosome 14 Syndrome |
34 |
1127 |
c
|
ISL165 |
Isolated Microphthalmia 3 |
34 |
1128 |
P
|
XLN255 |
X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders |
34 |
1129 |
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
34 |
1130 |
|
RDG001 |
Red-Green Color Blindness |
34 |
1131 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
1132 |
c
|
NGH007 |
Night Blindness, Congenital Stationary, Type 1b |
34 |
1133 |
P
|
SPS012 |
Spastic Paraplegia 3a |
34 |
1134 |
c
|
SCH045 |
Schizophrenia 12 |
34 |
1135 |
c
|
PST008 |
Posterior Scleritis |
34 |
1136 |
|
ANS004 |
Anisometropia |
33 |
1137 |
c
|
ACT159 |
Acute Transverse Myelitis |
33 |
1138 |
|
PLX004 |
Plexopathy |
33 |
1139 |
|
NWF001 |
Newfoundland Rod-Cone Dystrophy |
33 |
1140 |
|
PPL013 |
Papillary Ependymoma |
33 |
1141 |
c
|
INF019 |
Infectious Anterior Uveitis |
33 |
1142 |
|
CBB005 |
Cobblestone Lissencephaly |
33 |
1143 |
|
MRT012 |
Martin-Probst Syndrome |
33 |
1144 |
P
|
OVR096 |
Overlap Myositis |
33 |
1145 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
33 |
1146 |
c
|
EPL096 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
33 |
1147 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
33 |
1148 |
|
PRL013 |
Paralytic Poliomyelitis |
33 |
1149 |
|
LRG003 |
Large Cell Medulloblastoma |
33 |
1150 |
c
|
RNG008 |
Ring Chromosome 13 |
33 |
1151 |
c
|
THY084 |
Thyrotoxic Periodic Paralysis 1 |
33 |
1152 |
c
|
EPS015 |
Episodic Ataxia, Type 7 |
33 |
1153 |
c
|
THY083 |
Thyrotoxic Periodic Paralysis 2 |
33 |
1154 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
33 |
1155 |
c
|
JVN009 |
Juvenile Pilocytic Astrocytoma |
33 |
1156 |
c
|
RNG023 |
Ring Chromosome 7 |
33 |
1157 |
|
CRN009 |
Corneal Ectasia |
32 |
1158 |
c
|
AMY081 |
Amyotrophic Lateral Sclerosis Type 12 |
32 |
1159 |
c
|
CTR131 |
Cataract 17, Multiple Types |
32 |
1160 |
P
|
SPC019 |
Specific Language Impairment |
32 |
1161 |
c
|
FML350 |
Familial Febrile Seizures |
32 |
1162 |
c
|
SCH075 |
Schizophrenia 19 |
32 |
1163 |
|
HRP025 |
Herpes Simplex Virus Keratitis |
32 |
1164 |
|
NWN001 |
New-Onset Refractory Status Epilepticus |
32 |
1165 |
|
ALT003 |
Alternating Exotropia |
32 |
1166 |
c
|
RNG018 |
Ring Chromosome 22 |
32 |
1167 |
|
TYP026 |
Typical Congenital Nemaline Myopathy |
32 |
1168 |
c
|
EPL086 |
Epilepsy, Idiopathic Generalized 9 |
32 |
1169 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
32 |
1170 |
|
SDN002 |
Sudanophilic Cerebral Sclerosis |
32 |
1171 |
c
|
SCH051 |
Schizophrenia 4 |
32 |
1172 |
c
|
EPS014 |
Episodic Ataxia, Type 3 |
32 |
1173 |
|
IRR001 |
Irregular Astigmatism |
32 |
1174 |
|
NNS061 |
Non-Syndromic Pontocerebellar Hypoplasia |
32 |
1175 |
c
|
EPL009 |
Epilepsy Progressive Myoclonic Type 3 |
32 |
1176 |
|
CHL107 |
Childhood-Onset Nemaline Myopathy |
32 |
1177 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
32 |
1178 |
|
CRN273 |
Corneal Dystrophy, Subepithelial Mucinous |
32 |
1179 |
c
|
FBR073 |
Febrile Seizures, Familial, 1 |
32 |
1180 |
|
MNN006 |
Meninges Hemangiopericytoma |
32 |
1181 |
c
|
TRM017 |
Tremor, Hereditary Essential, 4 |
31 |
1182 |
c
|
SPS212 |
Spastic Ataxia 5, Autosomal Recessive |
31 |
1183 |
|
BRC002 |
Brachial Plexus Neuritis |
31 |
1184 |
|
FCL049 |
Focal Hand Dystonia |
31 |
1185 |
c
|
SCK033 |
Seckel Syndrome 8 |
31 |
1186 |
|
MGL033 |
Megalocornea-Mental Retardation Syndrome |
31 |
1187 |
P
|
VTR008 |
Vitreoretinal Degeneration |
31 |
1188 |
|
RCH002 |
Richards-Rundle Syndrome |
31 |
1189 |
|
ANT007 |
Anterior Horn Cell Disease |
31 |
1190 |
c
|
EPL188 |
Epilepsy, Progressive Myoclonic, 10 |
31 |
1191 |
c
|
RNG017 |
Ring Chromosome 21 |
31 |
1192 |
c
|
SLV028 |
Silver-Russell Syndrome 3 |
31 |
1193 |
c
|
DYS040 |
Dyskeratosis Congenita Autosomal Recessive |
31 |
1194 |
c
|
PRR021 |
Perrault Syndrome 4 |
31 |
1195 |
c
|
CTS048 |
Cutis Laxa, Autosomal Recessive, Type Iie |
31 |
1196 |
c
|
DRY002 |
Dry Beriberi |
31 |
1197 |
|
MTC212 |
Mitchell Syndrome |
31 |
1198 |
|
ANP032 |
Anaplastic Pleomorphic Xanthoastrocytoma |
31 |
1199 |
c
|
SPS062 |
Spastic Paraplegia 34, X-Linked |
31 |
1200 |
|
FBR001 |
Fibrous Meningioma |
31 |
1201 |
|
TRN002 |
Transitional Meningioma |
31 |
1202 |
|
TTR027 |
Tetrasomy 15q26 |
31 |
1203 |
|
VTR002 |
Vitreous Syneresis |
30 |
1204 |
|
FCL003 |
Facial Hemiatrophy |
30 |
1205 |
|
SPR168 |
Supratentorial Ependymoma |
30 |
1206 |
|
LGH012 |
Leigh Syndrome with Leukodystrophy |
30 |
1207 |
c
|
RTN057 |
Retinitis Pigmentosa 29 |
30 |
1208 |
c
|
ANN020 |
Anencephaly 1 |
30 |
1209 |
c
|
GLY023 |
Glycogen Storage Disease Type 0 |
30 |
1210 |
P
|
CRN249 |
Cornea Plana |
30 |
1211 |
|
VRN001 |
Vernal Conjunctivitis |
30 |
1212 |
c
|
RNG004 |
Ring Chromosome 1 |
30 |
1213 |
c
|
CTR175 |
Cataract 24 |
30 |
1214 |
c
|
EPL084 |
Epilepsy, Idiopathic Generalized 11 |
30 |
1215 |
|
EPL138 |
Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp |
30 |
1216 |
c
|
SPS072 |
Spastic Ataxia 1, Autosomal Dominant |
30 |
1217 |
c
|
EPL165 |
Epilepsy, Idiopathic Generalized 14 |
30 |
1218 |
|
MRR003 |
Murray Valley Encephalitis |
30 |
1219 |
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
30 |
1220 |
c
|
HLP021 |
Holoprosencephaly 6 |
30 |
1221 |
|
SPS134 |
Spasmodic Dystonia |
30 |
1222 |
c
|
SPS142 |
Spastic Ataxia 2, Autosomal Recessive |
30 |
1223 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
1224 |
|
MLT116 |
Multiple System Atrophy, Parkinsonian Type |
30 |
1225 |
c
|
SCK032 |
Seckel Syndrome 6 |
30 |
1226 |
|
LTN022 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
30 |
1227 |
|
CRP028 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
30 |
1228 |
c
|
CTR119 |
Cataract 32, Multiple Types |
30 |
1229 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
30 |
1230 |
c
|
FRD006 |
Friedreich Ataxia 2 |
30 |
1231 |
|
ATM008 |
Autoimmune Disease of Eyes, Ear, Nose and Throat |
30 |
1232 |
c
|
GLC115 |
Galactosemia Iv |
30 |
1233 |
c
|
SCH087 |
Schizophrenia 18 |
29 |
1234 |
c
|
EPL091 |
Epilepsy, Idiopathic Generalized 3 |
29 |
1235 |
|
MNG007 |
Manganese Poisoning |
29 |
1236 |
|
INT428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
29 |
1237 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
29 |
1238 |
c
|
FBR074 |
Febrile Seizures, Familial, 6 |
29 |
1239 |
c
|
SPS170 |
Spastic Ataxia 2 |
29 |
1240 |
c
|
MTC076 |
Metachromatic Leukodystrophy, Juvenile Form |
29 |
1241 |
c
|
SCH083 |
Schizophrenia 7 |
29 |
1242 |
|
RHM015 |
Rhombencephalosynapsis |
29 |
1243 |
c
|
RNG022 |
Ring Chromosome 6 |
29 |
1244 |
c
|
RNG007 |
Ring Chromosome 12 |
29 |
1245 |
c
|
CTR141 |
Cataract 21, Multiple Types |
29 |
1246 |
|
DSS005 |
Dissociated Nystagmus |
29 |
1247 |
c
|
DYS144 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
29 |
1248 |
c
|
SCH080 |
Schizophrenia 3 |
29 |
1249 |
|
CTN019 |
Cutaneous Polyarteritis Nodosa |
29 |
1250 |
|
CRB017 |
Cerebral Falx Meningioma |
29 |
1251 |
|
PHT002 |
Photokeratitis |
29 |
1252 |
|
PRM004 |
Primary Amebic Meningoencephalitis |
29 |
1253 |
|
RST024 |
Rosette-Forming Glioneuronal Tumor |
29 |
1254 |
|
IRS003 |
Iris Disease |
29 |
1255 |
c
|
RNG020 |
Ring Chromosome 4 |
28 |
1256 |
|
CRN128 |
Corneal Dystrophy, Endothelial, X-Linked |
28 |
1257 |
c
|
EPL154 |
Epilepsy, Progressive Myoclonic, 9 |
28 |
1258 |
c
|
ALZ059 |
Alzheimer Disease 13 |
28 |
1259 |
|
ANS002 |
Aniseikonia |
28 |
1260 |
|
OCL051 |
Ocular Tuberculosis |
28 |
1261 |
|
DCR002 |
Dacryocystocele |
28 |
1262 |
|
LCR001 |
Lacrimal Duct Obstruction |
28 |
1263 |
c
|
DYS175 |
Dystonia 26, Myoclonic |
28 |
1264 |
c
|
SCH064 |
Schizophrenia 10 |
28 |
1265 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
28 |
1266 |
c
|
TRM022 |
Tremor, Hereditary Essential, 5 |
28 |
1267 |
c
|
TRM020 |
Tremor, Hereditary Essential, 2 |
28 |
1268 |
c
|
JVN015 |
Juvenile Huntington Disease |
28 |
1269 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
28 |
1270 |
c
|
ERL003 |
Early Onset Absence Epilepsy |
28 |
1271 |
|
PNP001 |
Panophthalmitis |
28 |
1272 |
c
|
SCH052 |
Schizophrenia 14 |
28 |
1273 |
|
SLR002 |
Solar Retinopathy |
28 |
1274 |
|
IDP062 |
Idiopathic Syringomyelia |
28 |
1275 |
c
|
SHW007 |
Shwachman-Diamond Syndrome 2 |
28 |
1276 |
c
|
RNG024 |
Ring Chromosome 8 |
28 |
1277 |
|
HYP047 |
Hypertropia |
28 |
1278 |
|
BRC091 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
28 |
1279 |
c
|
CHR026 |
Charcot-Marie-Tooth Disease Type X |
28 |
1280 |
|
NSY001 |
N Syndrome |
28 |
1281 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
1282 |
|
LST003 |
Listeria Meningitis |
28 |
1283 |
|
MCR326 |
Microcephaly-Micromelia Syndrome |
28 |
1284 |
c
|
MYC086 |
Myoclonic Epilepsy, Juvenile 4 |
28 |
1285 |
|
OPH015 |
Ophn1 Syndrome |
28 |
1286 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
28 |
1287 |
c
|
ANR047 |
Aniridia 2 |
28 |
1288 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
28 |
1289 |
c
|
SCH061 |
Schizophrenia 16 |
28 |
1290 |
|
STR086 |
Stromal Dystrophy |
28 |
1291 |
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
28 |
1292 |
c
|
BLT007 |
Bilateral Frontal Polymicrogyria |
28 |
1293 |
P
|
MCR327 |
Microcephaly, Short Stature, and Limb Abnormalities |
28 |
1294 |
P
|
NNT006 |
Neonatal Myasthenia Gravis |
28 |
1295 |
|
OCC011 |
Occipital Encephalocele |
27 |
1296 |
c
|
UVS005 |
Uv-Sensitive Syndrome 1 |
27 |
1297 |
c
|
SCH085 |
Schizophrenia 2 |
27 |
1298 |
|
INT053 |
Intracranial Vasospasm |
27 |
1299 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
27 |
1300 |
c
|
GNR040 |
Generalized Epilepsy with Febrile Seizures Plus, Type 4 |
27 |
1301 |
|
VST003 |
Vestibular Nystagmus |
27 |
1302 |
|
RMN002 |
Ramon Syndrome |
27 |
1303 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
27 |
1304 |
c
|
SPS208 |
Spastic Ataxia 4, Autosomal Recessive |
27 |
1305 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
27 |
1306 |
c
|
MYM004 |
Moyamoya Disease 2 |
27 |
1307 |
c
|
TLN008 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
27 |
1308 |
|
FCL007 |
Facial Neuralgia |
27 |
1309 |
c
|
SPS136 |
Spastic Ataxia 3, Autosomal Recessive |
27 |
1310 |
|
ART110 |
Arteritic Anterior Ischemic Optic Neuropathy |
27 |
1311 |
c
|
SCH053 |
Schizophrenia 13 |
27 |
1312 |
c
|
SLV029 |
Silver-Russell Syndrome 2 |
27 |
1313 |
|
SBD001 |
Subdural Empyema |
27 |
1314 |
c
|
EPS048 |
Episodic Ataxia, Type 9 |
27 |
1315 |
c
|
MSM025 |
Mismatch Repair Cancer Syndrome 4 |
27 |
1316 |
c
|
JBR044 |
Joubert Syndrome 31 |
27 |
1317 |
|
HTR001 |
Heterophyiasis |
27 |
1318 |
|
IGG013 |
Igg4-Related Pachymeningitis |
27 |
1319 |
c
|
FBR071 |
Febrile Seizures, Familial, 5 |
27 |
1320 |
P
|
RNG032 |
Ring Chromosome |
27 |
1321 |
c
|
SPS171 |
Spastic Ataxia 5 |
27 |
1322 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
27 |
1323 |
P
|
ACT241 |
Acute Bilirubin Encephalopathy |
27 |
1324 |
P
|
AST059 |
Astrocytoma, Idh-Mutant, Grade 4 |
26 |
1325 |
P
|
CNG539 |
Congenital Disorder of Glycosylation with Defective Fucosylation 1 |
26 |
1326 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
26 |
1327 |
|
PHC001 |
Phacolytic Glaucoma |
26 |
1328 |
|
MSC185 |
Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue |
26 |
1329 |
c
|
CTR116 |
Cataract 15, Multiple Types |
26 |
1330 |
|
ANS018 |
Anismus |
26 |
1331 |
c
|
EPS013 |
Episodic Kinesigenic Dyskinesia 2 |
26 |
1332 |
c
|
EPL089 |
Epilepsy, Idiopathic Generalized 4 |
26 |
1333 |
c
|
RNG013 |
Ring Chromosome 18 |
26 |
1334 |
|
ACT065 |
Acute Hemorrhagic Encephalitis |
26 |
1335 |
c
|
DVL104 |
Developmental and Epileptic Encephalopathy 81 |
26 |
1336 |
c
|
RST020 |
Restless Legs Syndrome 6 |
26 |
1337 |
c
|
ANT087 |
Anterior Segment Dysgenesis 6 |
26 |
1338 |
|
CHR055 |
Chordoid Meningioma |
26 |
1339 |
|
ALG001 |
Algoneurodystrophy |
26 |
1340 |
c
|
RTN068 |
Retinitis Pigmentosa 6 |
26 |
1341 |
|
TRN011 |
Transient Refractive Change |
26 |
1342 |
|
NN2002 |
Non 24 Hour Sleep Wake Disorder |
26 |
1343 |
c
|
VNT024 |
Ventricular Septal Defect 3 |
26 |
1344 |
c
|
EPL261 |
Epilepsy, X-Linked 1, with Variable Learning Disabilities and Behavior Disorders |
26 |
1345 |
c
|
FBR067 |
Febrile Seizures, Familial, 9 |
26 |
1346 |
|
GLY094 |
Glycine Encephalopathy with Normal Serum Glycine |
26 |
1347 |
|
CVR001 |
Cavernous Sinus Meningioma |
26 |
1348 |
|
PSD004 |
Pseudomembranous Conjunctivitis |
26 |
1349 |
c
|
ALZ014 |
Alzheimer Disease 16 |
26 |
1350 |
c
|
CHD006 |
Chd2-Related Neurodevelopmental Disorders |
26 |
1351 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
26 |
1352 |
c
|
SCH084 |
Schizophrenia 8 |
26 |
1353 |
|
CRN268 |
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis |
26 |
1354 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
26 |
1355 |
c
|
SCH081 |
Schizophrenia 6 |
26 |
1356 |
c
|
EPL093 |
Epilepsy, Idiopathic Generalized 7 |
26 |
1357 |
c
|
TRM029 |
Tremor, Hereditary Essential, 6 |
26 |
1358 |
|
EXP002 |
Exposure Keratitis |
26 |
1359 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
1360 |
|
CHL162 |
Childhood Astrocytic Tumor |
25 |
1361 |
|
MNT256 |
Mental Retardation, Buenos Aires Type |
25 |
1362 |
|
HYP690 |
Hyper-Beta-Alaninemia |
25 |
1363 |
|
FLM001 |
Filamentary Keratitis |
25 |
1364 |
c
|
RTS005 |
Ritscher-Schinzel Syndrome 4 |
25 |
1365 |
P
|
FRM004 |
Foramen Magnum Meningioma |
25 |
1366 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
25 |
1367 |
|
MCR001 |
Microcystic Meningioma |
25 |
1368 |
P
|
BLT016 |
Bilateral Polymicrogyria |
25 |
1369 |
c
|
DYS185 |
Dystonia 13, Torsion, Autosomal Dominant |
25 |
1370 |
|
CHL182 |
Childhood Supratentorial Ependymoma |
25 |
1371 |
c
|
DYS212 |
Dystonia 30 |
25 |
1372 |
|
HMD003 |
Hemidystonia |
25 |
1373 |
c
|
RTN053 |
Retinitis Pigmentosa 24 |
25 |
1374 |
|
OCC008 |
Occipital Neuralgia |
25 |
1375 |
|
UNL005 |
Unilateral Polymicrogyria |
25 |
1376 |
|
FRL002 |
Froelich Syndrome |
25 |
1377 |
c
|
CNG630 |
Congenital Disorder of Deglycosylation 2 |
25 |
1378 |
c
|
RNG010 |
Ring Chromosome 15 |
25 |
1379 |
c
|
ATS358 |
Autism X-Linked 6 |
25 |
1380 |
c
|
RNG016 |
Ring Chromosome 20 |
25 |
1381 |
c
|
CNG541 |
Congenital Disorder of Glycosylation with Defective Fucosylation 2 |
25 |
1382 |
|
ARG003 |
Argyll Robertson Pupil |
25 |
1383 |
c
|
SCH073 |
Schizophrenia 9 |
25 |
1384 |
|
CHL058 |
Childhood Electroclinical Syndrome |
25 |
1385 |
|
PSM001 |
Psammomatous Meningioma |
25 |
1386 |
|
PLC004 |
Pilocytic Astrocytoma of Cerebellum |
25 |
1387 |
|
NDL011 |
Nodular Ganglioneuroblastoma |
25 |
1388 |
P
|
PPL023 |
Pupil Disease |
24 |
1389 |
c
|
MYM003 |
Moyamoya Disease 5 |
24 |
1390 |
c
|
STR092 |
Striatal Degeneration, Autosomal Dominant 2 |
24 |
1391 |
c
|
SCK037 |
Seckel Syndrome 9 |
24 |
1392 |
|
PRS053 |
Parsonage Turner Syndrome |
24 |
1393 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
24 |
1394 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
24 |
1395 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
24 |
1396 |
c
|
SCK038 |
Seckel Syndrome 10 |
24 |
1397 |
|
ADG002 |
Audiogenic Seizures |
24 |
1398 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
1399 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
24 |
1400 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
24 |
1401 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
24 |
1402 |
P
|
MYM016 |
Moyamoya Angiopathy |
24 |
1403 |
c
|
ATX041 |
Ataxia-Telangiectasia-Like Disorder 2 |
24 |
1404 |
c
|
SLV031 |
Silver-Russell Syndrome 5 |
24 |
1405 |
|
LMB001 |
Lumbosacral Plexus Lesion |
24 |
1406 |
c
|
JBR038 |
Joubert Syndrome 27 |
24 |
1407 |
|
CHL168 |
Childhood Ependymoma |
24 |
1408 |
c
|
CRB221 |
Cerebellar Ataxia Type 48 |
24 |
1409 |
|
PRL014 |
Paralytic Squint |
24 |
1410 |
c
|
HRD212 |
Hereditary Episodic Ataxia |
24 |
1411 |
|
HYP638 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
24 |
1412 |
c
|
TRS027 |
Torsion Dystonia 4 |
24 |
1413 |
c
|
RNG006 |
Ring Chromosome 11 |
24 |
1414 |
|
DYS188 |
Dyskinesia, Limb and Orofacial, Infantile-Onset |
24 |
1415 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
24 |
1416 |
|
CG5002 |
Cog5-Congenital Disorder of Glycosylation |
24 |
1417 |
|
STR002 |
Streptococcal Meningitis |
24 |
1418 |
|
ACC003 |
Accommodative Esotropia |
24 |
1419 |
c
|
RTN051 |
Retinitis Pigmentosa 22 |
24 |
1420 |
c
|
SCH082 |
Schizophrenia 5 |
24 |
1421 |
|
FTL045 |
Fatal Infantile Hypertonic Myofibrillar Myopathy |
24 |
1422 |
|
GNT042 |
Genetic Recurrent Myoglobinuria |
24 |
1423 |
c
|
JBR050 |
Joubert Syndrome 38 |
24 |
1424 |
c
|
SPS214 |
Spastic Ataxia 4 |
24 |
1425 |
c
|
DNC008 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
24 |
1426 |
|
BRT061 |
Buratti-Harel Syndrome |
24 |
1427 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
24 |
1428 |
|
CMB063 |
Combined Oxidative Phosphorylation Deficiency 25 |
24 |
1429 |
c
|
ENC064 |
Encephalopathy, Acute, Infection-Induced 8 |
24 |
1430 |
c
|
RNG015 |
Ring Chromosome 2 |
23 |
1431 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
23 |
1432 |
|
LWR016 |
Lowry-Maclean Syndrome |
23 |
1433 |
|
ANG009 |
Angiomatous Meningioma |
23 |
1434 |
|
SCH031 |
Scholte Syndrome |
23 |
1435 |
|
PSY017 |
Psychogenic Movement Disorders |
23 |
1436 |
c
|
GLY107 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
23 |
1437 |
c
|
MSM024 |
Mismatch Repair Cancer Syndrome 3 |
23 |
1438 |
|
SPS236 |
Spastic Tetraplegia and Axial Hypotonia, Progressive |
23 |
1439 |
|
HMC036 |
Homocystinuria Without Methylmalonic Aciduria |
23 |
1440 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1441 |
c
|
SCH088 |
Schwannomatosis 2 |
23 |
1442 |
|
CRP030 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia |
23 |
1443 |
|
PNG001 |
Pinguecula |
23 |
1444 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
23 |
1445 |
c
|
CTR158 |
Cataract 37 |
23 |
1446 |
c
|
MTC236 |
Mitochondrial Dna Depletion Syndrome 20 |
23 |
1447 |
c
|
CHR060 |
Chronic Dacryocystitis |
23 |
1448 |
c
|
CHR094 |
Chronic Polyneuropathy |
23 |
1449 |
c
|
CRB209 |
Cerebellar Malformation |
23 |
1450 |
P
|
ISL020 |
Isolated Microphthalmia |
23 |
1451 |
c
|
JBR048 |
Joubert Syndrome 36 |
23 |
1452 |
c
|
GNR013 |
Generalized Epilepsy with Febrile Seizures Plus, Type 6 |
23 |
1453 |
c
|
MLT094 |
Multiple Sclerosis 3 |
23 |
1454 |
c
|
RNG019 |
Ring Chromosome 3 |
23 |
1455 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
23 |
1456 |
|
NNT041 |
Neonatal Period Electroclinical Syndrome |
23 |
1457 |
|
CRB144 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
23 |
1458 |
|
ADL051 |
Adolescence-Adult Electroclinical Syndrome |
23 |
1459 |
|
CRB018 |
Cerebral Lipidosis |
23 |
1460 |
|
ATY034 |
Atypical Juvenile Parkinsonism |
23 |
1461 |
|
DYT003 |
Dyt-Gnal |
23 |
1462 |
|
SCL014 |
Scleral Staphyloma |
23 |
1463 |
|
PRK107 |
Parkinsonism-Dystonia 3, Childhood-Onset |
23 |
1464 |
c
|
MYC085 |
Myoclonic Epilepsy, Juvenile 3 |
23 |
1465 |
|
PST056 |
Postural Tachycardia Syndrome |
23 |
1466 |
|
SMP001 |
Simple Partial Epilepsy |
22 |
1467 |
c
|
RNG025 |
Ring Chromosome 9 |
22 |
1468 |
c
|
FBR076 |
Febrile Seizures, Familial, 7 |
22 |
1469 |
c
|
SPS163 |
Spastic Ataxia 3 |
22 |
1470 |
|
CRN156 |
Craniofacioskeletal Syndrome |
22 |
1471 |
c
|
ALZ060 |
Alzheimer Disease 14 |
22 |
1472 |
|
LFR008 |
L-Ferritin Deficiency |
22 |
1473 |
c
|
RNG021 |
Ring Chromosome 5 |
22 |
1474 |
c
|
EPL092 |
Epilepsy, Idiopathic Generalized 2 |
22 |
1475 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
1476 |
c
|
ALZ031 |
Alzheimer Disease 17 |
22 |
1477 |
c
|
ATS438 |
Autosomal Recessive Spastic Ataxia |
22 |
1478 |
c
|
MSM023 |
Mismatch Repair Cancer Syndrome 2 |
22 |
1479 |
|
INT058 |
Intraorbital Meningioma |
22 |
1480 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
22 |
1481 |
|
MYP154 |
Myopathy, Congenital, with Fast-Twitch Fiber Atrophy |
22 |
1482 |
c
|
UVS003 |
Uv-Sensitive Syndrome 3 |
22 |
1483 |
c
|
CTR110 |
Cataract 26, Multiple Types |
22 |
1484 |
|
MCR274 |
Microcephalic Primordial Dwarfism, Montreal Type |
22 |
1485 |
|
ABN003 |
Abnormal Threshold of Rods |
22 |
1486 |
|
LTR007 |
Lateral Ventricle Meningioma |
22 |
1487 |
c
|
EPL210 |
Epilepsy, Progressive Myoclonic, 6 |
22 |
1488 |
c
|
CRB217 |
Cerebellar Ataxia Type 42 |
22 |
1489 |
|
XLN085 |
X-Linked Complicated Spastic Paraplegia Type 1 |
22 |
1490 |
|
PRF002 |
Perforated Corneal Ulcer |
22 |
1491 |
c
|
PRG143 |
Progressive Myoclonus Epilepsy 7 |
22 |
1492 |
c
|
ENC070 |
Encephalopathy, Acute, Infection-Induced 9 |
22 |
1493 |
c
|
ACT037 |
Acute Dacryocystitis |
22 |
1494 |
|
LNG104 |
Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia |
22 |
1495 |
c
|
GLY104 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
22 |
1496 |
|
PHL001 |
Phlyctenulosis |
22 |
1497 |
c
|
RNG012 |
Ring Chromosome 17 |
22 |
1498 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
1499 |
c
|
SPS233 |
Spastic Ataxia 9, Autosomal Recessive |
22 |
1500 |
|
CRN076 |
Crane-Heise Syndrome |
22 |
1501 |
|
CRB032 |
Cerebral Convexity Meningioma |
22 |
1502 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
22 |
1503 |
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
22 |
1504 |
|
NPH064 |
Nipah Virus Disease |
21 |
1505 |
c
|
MTC213 |
Mitochondrial Dna Depletion Syndrome 19 |
21 |
1506 |
c
|
SPS191 |
Spastic Ataxia 7, Autosomal Dominant |
21 |
1507 |
c
|
EPL217 |
Epilepsy, Juvenile Myoclonic 10 |
21 |
1508 |
|
CHR051 |
Chorea Gravidarum |
21 |
1509 |
c
|
MGR036 |
Migraine with or Without Aura 2 |
21 |
1510 |
c
|
HLP022 |
Holoprosencephaly 8 |
21 |
1511 |
|
9Q3002 |
9q33.3q34.11 Microdeletion Syndrome |
21 |
1512 |
c
|
ANG059 |
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 |
21 |
1513 |
P
|
CRB095 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
21 |
1514 |
c
|
CTR160 |
Cataract 45 |
21 |
1515 |
c
|
ERL063 |
Early-Onset Isolated Dystonia |
21 |
1516 |
|
INF033 |
Infancy Electroclinical Syndrome |
21 |
1517 |
|
PRT032 |
Partial Central Choroid Dystrophy |
21 |
1518 |
|
SPN015 |
Spinal Polio |
21 |
1519 |
|
PRN018 |
Paraneoplastic Polyneuropathy |
21 |
1520 |
|
SPR019 |
Superficial Keratitis |
21 |
1521 |
c
|
CTR178 |
Cataract 27 |
21 |
1522 |
c
|
SCH086 |
Schizophrenia 11 |
21 |
1523 |
|
CRN007 |
Corneal Staphyloma |
21 |
1524 |
c
|
PRK104 |
Parkinson Disease 24, Autosomal Dominant |
21 |
1525 |
|
NCL001 |
Nuclear Senile Cataract |
21 |
1526 |
|
NNP002 |
Nonparalytic Poliomyelitis |
21 |
1527 |
c
|
NGH022 |
Night Blindness, Congenital Stationary, Type 1g |
21 |
1528 |
P
|
CTS012 |
Cutis Verticis Gyrata |
21 |
1529 |
c
|
PRG146 |
Progressive Myoclonus Epilepsy 9 |
21 |
1530 |
c
|
ZKV002 |
Zika Virus Congenital Syndrome |
21 |
1531 |
c
|
TRN062 |
Transient Neonatal Myasthenia Gravis |
21 |
1532 |
P
|
USM001 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
21 |
1533 |
c
|
ADL071 |
Adult Krabbe Disease |
21 |
1534 |
c
|
DYS223 |
Dystonia 28 |
21 |
1535 |
|
CLV003 |
Clivus Meningioma |
20 |
1536 |
c
|
CTR128 |
Cataract 33 |
20 |
1537 |
|
SPN092 |
Spinal Shock |
20 |
1538 |
|
7P2001 |
7p22.1 Microduplication Syndrome |
20 |
1539 |
c
|
MLT093 |
Multiple Sclerosis 2 |
20 |
1540 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
20 |
1541 |
|
BNG077 |
Benign Idiopathic Neonatal Seizures |
20 |
1542 |
|
GLF001 |
Gliofibroma |
20 |
1543 |
|
BSL005 |
Basal Ganglia Cerebrovascular Disease |
20 |
1544 |
|
DSS001 |
Disseminated Chorioretinitis |
20 |
1545 |
c
|
ANR046 |
Aniridia 3 |
20 |
1546 |
c
|
SLV030 |
Silver-Russell Syndrome 4 |
20 |
1547 |
c
|
ENC072 |
Encephalopathy, Acute, Infection-Induced 10 |
20 |
1548 |
c
|
LKD037 |
Leukodystrophy, Hypomyelinating, 24 |
20 |
1549 |
|
PLY088 |
Polyvalvular Heart Disease Syndrome |
20 |
1550 |
|
MLT132 |
Multifocal Dystonia |
20 |
1551 |
c
|
TLN010 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
20 |
1552 |
c
|
TRM016 |
Tremor, Hereditary Essential, 3 |
20 |
1553 |
c
|
ACQ027 |
Acquired Cutis Laxa |
20 |
1554 |
|
KT6003 |
Kat6b-Related Multiple Congenital Anomalies Syndrome |
20 |
1555 |
c
|
HYD070 |
Hydrocephalus, Congenital Communicating, 1 |
20 |
1556 |
|
MXD001 |
Mixed Cerebral Palsy |
20 |
1557 |
c
|
PRK025 |
Parkinson Disease 10 |
20 |
1558 |
P
|
ISL135 |
Isolated Dystonia |
20 |
1559 |
c
|
ANN021 |
Anencephaly 2 |
20 |
1560 |
|
MNN016 |
Mononeuritis of Upper Limb and Mononeuritis Multiplex |
20 |
1561 |
c
|
PRK058 |
Parkinson Disease 16 |
20 |
1562 |
|
IDP067 |
Idiopathic Hemiconvulsion-Hemiplegia Syndrome |
19 |
1563 |
c
|
RNG011 |
Ring Chromosome 16 |
19 |
1564 |
c
|
SPC027 |
Specific Language Impairment 1 |
19 |
1565 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
1566 |
|
PSD006 |
Pseudopterygium |
19 |
1567 |
|
VTR001 |
Vitreoretinal Dystrophy |
19 |
1568 |
c
|
RTN063 |
Retinitis Pigmentosa 34 |
19 |
1569 |
c
|
INF152 |
Infectious Posterior Uveitis |
19 |
1570 |
c
|
RNG014 |
Ring Chromosome 19 |
19 |
1571 |
|
CRN023 |
Corneal Deposit |
19 |
1572 |
c
|
EPL247 |
Epilepsy, Idiopathic Generalized 16 |
19 |
1573 |
|
RGL001 |
Regular Astigmatism |
19 |
1574 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
19 |
1575 |
|
CRV063 |
Cervical Spina Bifida Aperta |
19 |
1576 |
c
|
INT307 |
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation |
19 |
1577 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
19 |
1578 |
|
ART113 |
Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability |
19 |
1579 |
c
|
SPC023 |
Specific Language Impairment 5 |
19 |
1580 |
c
|
UVS004 |
Uv-Sensitive Syndrome 2 |
19 |
1581 |
|
CRB015 |
Cerebellar Angioblastoma |
19 |
1582 |
|
PST109 |
Postinfectious Encephalitis |
19 |
1583 |
c
|
GLC032 |
Glaucoma, Hereditary |
19 |
1584 |
|
CHR706 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
19 |
1585 |
c
|
TRC104 |
Trichorhinophalangeal Syndrome Type 1 and 3 |
19 |
1586 |
|
CHR043 |
Chronic Inflammatory Demyelinating Polyneuritis |
19 |
1587 |
c
|
MGR033 |
Migraine with or Without Aura 6 |
19 |
1588 |
|
FRY007 |
Fryns Macrocephaly |
19 |
1589 |
|
MLT155 |
Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type |
19 |
1590 |
|
SKL031 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
19 |
1591 |
|
FLN005 |
Folinic Acid-Responsive Seizures |
19 |
1592 |
|
NRN022 |
Neurenteric Cyst |
19 |
1593 |
c
|
FBR068 |
Febrile Seizures, Familial, 10 |
19 |
1594 |
c
|
MCR108 |
Microphthalmia, Isolated 7 |
19 |
1595 |
|
RSD002 |
Residual Stage of Open Angle Glaucoma |
19 |
1596 |
|
SPN113 |
Spinocerebellar Ataxia with Dysmorphism |
19 |
1597 |
c
|
EPL260 |
Epilepsy, Idiopathic Generalized 18 |
19 |
1598 |
c
|
PRX024 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
19 |
1599 |
|
CRN225 |
Cranio-Facial Dystonia |
18 |
1600 |
|
FCL013 |
Focal Chorioretinitis |
18 |
1601 |
|
HST005 |
Histoplasmosis Meningitis |
18 |
1602 |
c
|
CNT026 |
Central Corneal Ulcer |
18 |
1603 |
c
|
LSS044 |
Lissencephaly 6 |
18 |
1604 |
c
|
ATS461 |
Autosomal Dominant Cerebellar Ataxia Type I |
18 |
1605 |
P
|
CNG515 |
Congenital Zika Syndrome |
18 |
1606 |
|
OPH003 |
Ophthalmia Nodosa |
18 |
1607 |
|
ISL155 |
Isolated Anencephaly |
18 |
1608 |
|
JGL001 |
Jugular Foramen Meningioma |
18 |
1609 |
|
DBL001 |
Double Pterygium |
18 |
1610 |
|
LTH036 |
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome |
18 |
1611 |
P
|
BMN001 |
Biemond Syndrome |
18 |
1612 |
|
CHR053 |
Chronic Follicular Conjunctivitis |
18 |
1613 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
18 |
1614 |
c
|
MGR042 |
Migraine with or Without Aura 13 |
18 |
1615 |
|
DPK001 |
Deep Keratitis |
18 |
1616 |
c
|
MGR023 |
Migraine Without Aura 4 |
18 |
1617 |
|
PRM139 |
Primary Melanoma of the Central Nervous System |
18 |
1618 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
18 |
1619 |
c
|
CRB220 |
Cerebellar Ataxia Type 43 |
18 |
1620 |
c
|
MGR022 |
Migraine with or Without Aura 3 |
18 |
1621 |
|
UPP007 |
Upper Thoracic Spina Bifida Cystica |
18 |
1622 |
|
CRV061 |
Cervicothoracic Spina Bifida Cystica |
18 |
1623 |
|
UPP008 |
Upper Thoracic Spina Bifida Aperta |
18 |
1624 |
c
|
RTN206 |
Retinitis Pigmentosa, Late-Adult Onset |
18 |
1625 |
c
|
GLY116 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
18 |
1626 |
c
|
SPS229 |
Spastic Ataxia 8 |
18 |
1627 |
|
BNG078 |
Benign Paroxysmal Torticollis of Infancy |
18 |
1628 |
|
3P2001 |
3p25.3 Microdeletion Syndrome |
18 |
1629 |
c
|
MLT095 |
Multiple Sclerosis 4 |
18 |
1630 |
c
|
GNR042 |
Generalized Epilepsy with Febrile Seizures Plus, Type 8 |
17 |
1631 |
|
MCR042 |
Microbrachycephaly Ptosis Cleft Lip |
17 |
1632 |
|
CMP066 |
Complement Component 8 Deficiency |
17 |
1633 |
c
|
TLN009 |
Telangiectasia, Hereditary Hemorrhagic, Type 3 |
17 |
1634 |
c
|
SCN003 |
Secondary Corneal Edema |
17 |
1635 |
c
|
MCH013 |
Machado-Joseph Disease Type 3 |
17 |
1636 |
c
|
SM1001 |
Sim1-Related Prader-Willi-Like Syndrome |
17 |
1637 |
c
|
MGR024 |
Migraine with or Without Aura 5 |
17 |
1638 |
c
|
MCH014 |
Machado-Joseph Disease Type 2 |
17 |
1639 |
|
ABN004 |
Abnormal Pupillary Function |
17 |
1640 |
|
IDP006 |
Idiopathic Corneal Edema |
17 |
1641 |
c
|
CHR692 |
Chronic Encephalitis |
17 |
1642 |
|
INT008 |
Intermittent Squint |
17 |
1643 |
c
|
CRB222 |
Cerebellar Ataxia Type 9 |
17 |
1644 |
|
CNJ011 |
Conjunctival Deposit |
17 |
1645 |
|
RLN004 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
17 |
1646 |
c
|
EPL074 |
Epilepsy, Hot Water, 1 |
17 |
1647 |
c
|
ATS462 |
Autosomal Dominant Cerebellar Ataxia Type Iii |
17 |
1648 |
|
CHL098 |
Childhood Myocerebrohepatopathy Spectrum |
17 |
1649 |
|
HYD055 |
Hydroxylysinuria |
17 |
1650 |
c
|
SPS162 |
Spastic Ataxia 1 |
17 |
1651 |
c
|
NGL006 |
Ngly1-Related Congenital Disorder of Deglycosylation |
17 |
1652 |
|
MRF018 |
Marfanoid Habitus with Microcephaly and Glomerulonephritis |
17 |
1653 |
|
PRX084 |
Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia |
17 |
1654 |
P
|
HTW002 |
Hot Water Epilepsy |
17 |
1655 |
|
VNB001 |
Van Benthem-Driessen-Hanveld Syndrome |
17 |
1656 |
P
|
CNG348 |
Congenital Sialidosis Type 2 |
17 |
1657 |
|
EPT023 |
Epithelial and Subepithelial Dystrophy |
17 |
1658 |
|
CNJ002 |
Conjunctival Folliculosis |
17 |
1659 |
|
EPP005 |
Epiphyseal Dysplasia Hearing Loss Dysmorphism |
17 |
1660 |
|
CRM010 |
Cramp-Fasciculation Syndrome |
16 |
1661 |
|
CTR171 |
Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome |
16 |
1662 |
c
|
PRG148 |
Progressive Myoclonus Epilepsy 1a |
16 |
1663 |
c
|
CNG433 |
Congenital Cornea Plana |
16 |
1664 |
|
THY131 |
Thyrotoxic Myopathy |
16 |
1665 |
c
|
ACT030 |
Acute Dacryoadenitis |
16 |
1666 |
|
FNG010 |
Fingerprint Body Myopathy |
16 |
1667 |
|
PRG115 |
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome |
16 |
1668 |
c
|
GRN052 |
Grin2b-Related Neurodevelopmental Disorder |
16 |
1669 |
|
MNN024 |
Meningitis and Encephalitis |
16 |
1670 |
|
1P2001 |
1p21.3 Microdeletion Syndrome |
16 |
1671 |
|
EPT024 |
Epithelial-Stromal Tgfbi Dystrophy |
16 |
1672 |
c
|
PRK022 |
Parkinson Disease 12 |
16 |
1673 |
|
MYC004 |
Mycotic Corneal Ulcer |
16 |
1674 |
|
SPS006 |
Spastic Monoplegia |
16 |
1675 |
|
CHR189 |
Chromosome 12p Deletion |
16 |
1676 |
|
INF053 |
Infantile Spasms Broad Thumbs |
16 |
1677 |
c
|
MGR040 |
Migraine with or Without Aura 12 |
16 |
1678 |
|
PLY127 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
16 |
1679 |
c
|
CHR035 |
Chronic Dacryoadenitis |
16 |
1680 |
|
BNG011 |
Benign Shuddering Attacks |
16 |
1681 |
c
|
SPC028 |
Specific Language Impairment 2 |
16 |
1682 |
c
|
EPL090 |
Epilepsy, Idiopathic Generalized 5 |
16 |
1683 |
c
|
LTN017 |
Late-Infantile/juvenile Krabbe Disease |
16 |
1684 |
|
CNG518 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
16 |
1685 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
16 |
1686 |
c
|
SYN077 |
Syndromic X-Linked Intellectual Disability 12 |
16 |
1687 |
|
EXP003 |
Exophthalmic Ophthalmoplegia |
16 |
1688 |
|
SLF012 |
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency |
16 |
1689 |
|
HLL006 |
Halal Setton Wang Syndrome |
16 |
1690 |
c
|
LMN017 |
Lmnb1-Related Autosomal Dominant Leukodystrophy |
16 |
1691 |
c
|
ANR028 |
Aneurysm, Intracranial Berry, 3 |
16 |
1692 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
15 |
1693 |
|
16P011 |
16p12.1p12.3 Triplication Syndrome |
15 |
1694 |
c
|
MGR038 |
Migraine with or Without Aura 10 |
15 |
1695 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
15 |
1696 |
|
MLT154 |
Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type |
15 |
1697 |
c
|
PST110 |
Posterior Corneal Dystrophy |
15 |
1698 |
|
SLV016 |
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication |
15 |
1699 |
|
INF139 |
Infantile Choroidocerebral Calcification Syndrome |
15 |
1700 |
c
|
CRB218 |
Cerebellar Ataxia Type 47 |
15 |
1701 |
c
|
MGR037 |
Migraine with or Without Aura 8 |
15 |
1702 |
|
DST102 |
Distal Nebulin Myopathy |
15 |
1703 |
|
APR008 |
Aprosencephaly and Cerebellar Dysgenesis |
15 |
1704 |
c
|
EPL186 |
Epilepsy, Juvenile Myoclonic 9 |
15 |
1705 |
|
PHR010 |
Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome |
15 |
1706 |
|
KNJ001 |
Kunjin Encephalitis |
15 |
1707 |
|
TRG013 |
Trigeminal Autonomic Cephalalgia |
15 |
1708 |
c
|
TBB006 |
Tubb4a-Related Leukodystrophy |
15 |
1709 |
|
ANT040 |
Anton's Syndrome |
15 |
1710 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
15 |
1711 |
c
|
ANG058 |
Angelman Syndrome Due to a Point Mutation |
15 |
1712 |
c
|
SPR166 |
Sporadic Fatal Insomnia |
15 |
1713 |
|
HMD002 |
Hemidystonia-Hemiatrophy Syndrome |
15 |
1714 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
15 |
1715 |
c
|
MGR039 |
Migraine with or Without Aura 11 |
15 |
1716 |
c
|
SCN087 |
Scn3a-Related Neurodevelopmental Disorder |
15 |
1717 |
|
XQ1001 |
Xq12-Q13.3 Duplication Syndrome |
15 |
1718 |
|
CLF019 |
Cleft Palate Short Stature Vertebral Anomalies |
15 |
1719 |
|
ACQ003 |
Acquired Tear Duct Stenosis |
14 |
1720 |
|
TRC112 |
Trochlea of the Humerus, Aplasia of |
14 |
1721 |
|
20Q002 |
20q11.2 Microduplication Syndrome |
14 |
1722 |
|
EPL095 |
Epilepsy with Myoclonic Absences |
14 |
1723 |
|
CNG472 |
Congenital Insensitivity to Pain with Severe Intellectual Disability |
14 |
1724 |
|
MDL031 |
Medulloblastoma Shh Activated |
14 |
1725 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
14 |
1726 |
c
|
CRB219 |
Cerebellar Ataxia Type 41 |
14 |
1727 |
|
CHR152 |
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism |
14 |
1728 |
|
CMB094 |
Combined Dystonia |
14 |
1729 |
c
|
PX6002 |
Pax6-Related Aniridia |
14 |
1730 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
1731 |
|
MDL032 |
Medulloblastoma Shh Activated and Tp53 Mutant |
14 |
1732 |
c
|
RST016 |
Restless Legs Syndrome 7 |
14 |
1733 |
|
VTR004 |
Vitreous Abscess |
14 |
1734 |
P
|
RTN200 |
Retinopathy, Pericentral Pigmentary, Dominant |
14 |
1735 |
|
MNN015 |
Mononeuritis of Lower Limb |
14 |
1736 |
|
ALT004 |
Alternating Esotropia |
14 |
1737 |
c
|
ANR011 |
Aneurysm, Intracranial Berry, 2 |
14 |
1738 |
|
STR070 |
Startle Epilepsy |
14 |
1739 |
c
|
GLC052 |
Glaucoma 3, Primary Congenital, C |
14 |
1740 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
14 |
1741 |
|
9Q3001 |
9q31.1q31.3 Microdeletion Syndrome |
14 |
1742 |
c
|
ATS470 |
Autosomal Dominant Pure Spastic Paraplegia |
14 |
1743 |
|
PNF002 |
Painful Legs and Moving Toes Syndrome |
14 |
1744 |
|
CNJ010 |
Conjunctival Degeneration |
14 |
1745 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
14 |
1746 |
c
|
SCN066 |
Secondary Erythromelalgia |
14 |
1747 |
|
SPS045 |
Spastic Paraplegia Facial Cutaneous Lesions |
14 |
1748 |
|
ATS233 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
14 |
1749 |
c
|
PRG147 |
Progressive Myoclonus Epilepsy 8 |
14 |
1750 |
c
|
ART171 |
Arthrogryposis Multiplex Congenita-3 |
14 |
1751 |
c
|
ELN002 |
Eln-Related Cutis Laxa |
14 |
1752 |
|
MCR285 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
14 |
1753 |
c
|
PRG144 |
Progressive Myoclonus Epilepsy 1b |
14 |
1754 |
|
SPP006 |
Suppurative Uveitis |
13 |
1755 |
|
BLL005 |
Bullous Retinoschisis |
13 |
1756 |
|
MCR299 |
Microlissencephaly-Micromelia Syndrome |
13 |
1757 |
|
BNG075 |
Benign Samaritan Congenital Myopathy |
13 |
1758 |
|
MCR367 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
13 |
1759 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
13 |
1760 |
|
TPT004 |
Tapetoretinal Degeneration with Ataxia |
13 |
1761 |
P
|
ALP110 |
Alopecia-Mental Retardation Syndrome |
13 |
1762 |
c
|
ANR022 |
Aneurysm, Intracranial Berry, 4 |
13 |
1763 |
|
ACQ033 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
13 |
1764 |
|
CHL009 |
Childhood Cerebral Astrocytoma |
13 |
1765 |
c
|
ART170 |
Arthrogryposis Multiplex Congenita-1 |
13 |
1766 |
c
|
HYD042 |
Hydrocephalus, Autosomal Dominant |
13 |
1767 |
|
RTN102 |
Retinitis Pigmentosa, Y-Linked |
13 |
1768 |
|
GLB019 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
13 |
1769 |
|
SVR093 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
13 |
1770 |
|
MRG002 |
Marginal Corneal Ulcer |
13 |
1771 |
|
XLN145 |
X-Linked Intellectual Disability, Pai Type |
13 |
1772 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
13 |
1773 |
|
CTH001 |
Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy |
13 |
1774 |
P
|
ANT012 |
Anterior Dislocation of Lens |
13 |
1775 |
c
|
NTC002 |
Notch3-Related Lateral Meningocele Syndrome |
13 |
1776 |
c
|
ANR024 |
Aneurysm, Intracranial Berry, 9 |
13 |
1777 |
|
CRT077 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
13 |
1778 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
13 |
1779 |
|
ATY052 |
Atypical Timothy Syndrome |
13 |
1780 |
P
|
VTM031 |
Vitamin B12 Plasma Level Quantitative Trait Locus 1 |
13 |
1781 |
|
GNT189 |
Genetic Prion Disease |
13 |
1782 |
c
|
VPS003 |
Vps35-Related Parkinson Disease |
12 |
1783 |
c
|
CNG253 |
Congenital Communicating Hydrocephalus |
12 |
1784 |
c
|
ANR030 |
Aneurysm, Intracranial Berry, 8 |
12 |
1785 |
c
|
ANR023 |
Aneurysm, Intracranial Berry, 7 |
12 |
1786 |
|
DYS158 |
Dystonia-Aphonia Syndrome |
12 |
1787 |
|
EVR001 |
Eversion of Lacrimal Punctum |
12 |
1788 |
|
RBL002 |
Rubella Panencephalitis |
12 |
1789 |
|
MLL015 |
Mills Syndrome |
12 |
1790 |
|
DLY009 |
Delayed Encephalopathy Due to Carbon Monoxide Poisoning |
12 |
1791 |
c
|
THY119 |
Thyrotoxic Periodic Paralysis 3 |
12 |
1792 |
|
CYN006 |
Cyanide-Induced Parkinsonism-Dystonia |
12 |
1793 |
|
INT228 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
12 |
1794 |
c
|
MYM005 |
Moyamoya Disease 3 |
12 |
1795 |
|
STN003 |
Stenosis of Lacrimal Passage |
12 |
1796 |
c
|
ANR026 |
Aneurysm, Intracranial Berry, 5 |
12 |
1797 |
|
SPS184 |
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome |
12 |
1798 |
|
LRY045 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
12 |
1799 |
c
|
PRM188 |
Primary Cutis Verticis Gyrata |
12 |
1800 |
c
|
ATS460 |
Autosomal Recessive Congenital Cerebellar Ataxia |
12 |
1801 |
|
PRT138 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
12 |
1802 |
|
CNG459 |
Congenital Myopathy with Myasthenic-Like Onset |
12 |
1803 |
|
IDP079 |
Idiopathic Dropped Head Syndrome |
12 |
1804 |
|
ATS074 |
Autosomal Recessive Ataxia Due to Pex10 Deficiency |
12 |
1805 |
c
|
ART172 |
Arthrogryposis Multiplex Congenita-4 |
12 |
1806 |
|
CRB013 |
Cerebellar Vermis Medulloblastoma |
12 |
1807 |
|
SCL041 |
Sclerosing Perineurioma |
12 |
1808 |
|
XLN142 |
X-Linked Intellectual Disability, Stevenson Type |
12 |
1809 |
|
CNG516 |
Congenital Cervical Spinal Stenosis |
12 |
1810 |
c
|
MGR025 |
Migraine with Aura 7 |
12 |
1811 |
c
|
SPC015 |
Specific Language Impairment 4 |
12 |
1812 |
|
SYP002 |
Syphilitic Encephalitis |
12 |
1813 |
|
HYP062 |
Hypopyon Ulcer |
11 |
1814 |
c
|
ANR039 |
Aneurysm, Intracranial Berry, 11 |
11 |
1815 |
|
PRP108 |
Paraparetic Variant of Guillain-Barre Syndrome |
11 |
1816 |
|
XLN101 |
X-Linked Complex Spastic Paraplegia |
11 |
1817 |
c
|
MGR027 |
Migraine with Aura 9 |
11 |
1818 |
|
CRN002 |
Corneal Argyrosis |
11 |
1819 |
c
|
SPC029 |
Specific Language Impairment 3 |
11 |
1820 |
c
|
GNB002 |
Gnb5-Related Neurodevelopmental Disorder |
11 |
1821 |
c
|
DYS225 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
11 |
1822 |
|
FNG013 |
Fungal Myositis |
11 |
1823 |
|
CHL160 |
Childhood-Onset Steinert Myotonic Dystrophy |
11 |
1824 |
|
HTR024 |
Htra1-Related Cerebral Small Vessel Disease |
11 |
1825 |
c
|
EPL075 |
Epilepsy, Hot Water, 2 |
11 |
1826 |
|
SBC038 |
Sub-Cortical Nodular Heterotopia |
11 |
1827 |
c
|
ATS431 |
Autosomal Recessive Distal Myopathy |
11 |
1828 |
c
|
HNR003 |
Hnrnpu-Related Neurodevelopmental Disorder |
11 |
1829 |
|
MDL033 |
Medulloblastoma Shh Activated and Tp53 Wild-Type |
11 |
1830 |
|
PRG076 |
Progressive Cavitating Leukoencephalopathy |
11 |
1831 |
c
|
ISL040 |
Isolated Focal Cortical Dysplasia Type Ia |
10 |
1832 |
c
|
PRM185 |
Primary Essential Cutis Verticis Gyrata |
10 |
1833 |
|
SPL071 |
Split Cord Malformation Type Ii |
10 |
1834 |
|
GLB013 |
Glioblastoma Mesenchymal Subtype |
10 |
1835 |
c
|
GRN056 |
Grin1-Related Neurodevelopmental Disorder |
10 |
1836 |
|
CRY020 |
Cryptogenic Late-Onset Epileptic Spasms |
10 |
1837 |
c
|
CHR061 |
Chronic Canaliculitis |
10 |
1838 |
c
|
HNR004 |
Hnrnph2-Related Neurodevelopmental Disorder |
10 |
1839 |
c
|
CHR689 |
Chronic Polyradiculoneuropathy |
10 |
1840 |
|
HST002 |
Histoplasmosis Retinitis |
10 |
1841 |
|
PRM376 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
10 |
1842 |
c
|
ACQ069 |
Acquired Human Prion Disease |
10 |
1843 |
c
|
ATN031 |
Atn1-Related Neurodevelopmental Disorder |
10 |
1844 |
|
XLN207 |
X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome |
10 |
1845 |
|
MYC062 |
Mycoplasma Encephalitis |
10 |
1846 |
c
|
RRC027 |
Rare Corneal Disorder |
10 |
1847 |
|
PRS140 |
Parasitic Myositis |
10 |
1848 |
c
|
SPR154 |
Sporadic Human Prion Disease |
10 |
1849 |
|
BLK004 |
Blake Pouch Cyst |
10 |
1850 |
|
ANT052 |
Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita |
10 |
1851 |
|
FCL062 |
Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation |
10 |
1852 |
|
AXN006 |
Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy |
10 |
1853 |
|
KLH007 |
Klhl7-Related Bohring-Opitz-Like/cold-Induced Sweating-Like Overlap Syndrome |
10 |
1854 |
P
|
ACT026 |
Acute Canaliculitis |
10 |
1855 |
c
|
ENC068 |
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect |
9 |
1856 |
c
|
PRR042 |
Pure or Complex Autosomal Recessive Spastic Paraplegia |
9 |
1857 |
c
|
MYP129 |
Myopathy Due to Malate-Aspartate Shuttle Defect |
9 |
1858 |
c
|
STD003 |
Setd1b-Related Neurodevelopmental Disorder |
9 |
1859 |
|
BNG092 |
Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep |
9 |
1860 |
|
MLT076 |
Multiple System Atrophy with Orthostatic Hypotension |
9 |
1861 |
|
EQT001 |
Equatorial Staphyloma |
9 |
1862 |
|
RTC007 |
Reticular Perineurioma |
9 |
1863 |
|
TRF003 |
Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome |
9 |
1864 |
|
ISL058 |
Isolated Anencephaly/exencephaly |
9 |
1865 |
c
|
PST025 |
Posterior Dislocation of Lens |
9 |
1866 |
P
|
PST115 |
Posterior Fossa Group a Ependymoma |
9 |
1867 |
|
MRB005 |
Marburg Acute Multiple Sclerosis |
9 |
1868 |
c
|
CRB128 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 |
9 |
1869 |
c
|
ATS437 |
Autosomal Dominant Spastic Ataxia |
9 |
1870 |
|
NDL004 |
Nodular Degeneration of Cornea |
9 |
1871 |
|
STP001 |
Staphyloma Posticum |
9 |
1872 |
|
ISL050 |
Isolated Dandy-Walker Malformation with Hydrocephalus |
9 |
1873 |
|
TRN052 |
Transient Hyperammonemia of the Newborn |
9 |
1874 |
c
|
TYS006 |
Tay-Sachs Disease, B Variant, Adult Form |
9 |
1875 |
|
ISL028 |
Isolated Cerebellar Vermis Hypoplasia |
9 |
1876 |
|
ADL033 |
Adult Papillary Meningioma |
9 |
1877 |
c
|
PPP002 |
Ppp2r5d-Related Neurodevelopmental Disorder |
9 |
1878 |
c
|
PLY008 |
Polyneuropathy Due to Drug |
9 |
1879 |
|
IDP042 |
Idiopathic Recurrent Stupor |
8 |
1880 |
|
ANP028 |
Anaplastic/large Cell Medulloblastoma |
8 |
1881 |
c
|
ISL038 |
Isolated Focal Cortical Dysplasia Type Ib |
8 |
1882 |
c
|
SCL053 |
Sclerocornea, Autosomal Dominant |
8 |
1883 |
c
|
CRB127 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 3 |
8 |
1884 |
c
|
MLT169 |
Multiple Mitochondrial Dna Deletion Syndrome |
8 |
1885 |
P
|
TTL001 |
Total Internal Ophthalmoplegia |
8 |
1886 |
|
1P3003 |
1p35.2 Microdeletion Syndrome |
8 |
1887 |
|
GNC007 |
Gonococcal Keratitis |
8 |
1888 |
|
MNC005 |
Monocular Exotropia |
8 |
1889 |
c
|
ATS092 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
8 |
1890 |
c
|
ATS289 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
8 |
1891 |
|
INT048 |
Intracerebral Cystic Meningioma |
7 |
1892 |
|
HRD105 |
Hereditary Sensorimotor Neuropathy with Hyperelastic Skin |
7 |
1893 |
|
2P1003 |
2p13.2 Microdeletion Syndrome |
7 |
1894 |
c
|
ATS179 |
Autosomal Recessive Cerebral Atrophy |
7 |
1895 |
|
ACT192 |
Acute Encephalopathy with Inflammation-Mediated Status Epilepticus |
7 |
1896 |
|
PHL004 |
Phlegmonous Dacryocystitis |
7 |
1897 |
|
XLN237 |
X-Linked Pure Spastic Paraplegia |
7 |
1898 |
|
GNT165 |
Genetic Cerebral Small Vessel Disease |
7 |
1899 |
P
|
EPP001 |
Epiphora Due to Insufficient Drainage |
7 |
1900 |
c
|
PST023 |
Posterior Foramen Magnum Meningioma |
7 |
1901 |
|
CPN001 |
C-P Angle Neurinoma |
7 |
1902 |
|
ISL034 |
Isolated Megalencephaly |
7 |
1903 |
c
|
TYS004 |
Tay-Sachs Disease, B Variant, Infantile Form |
7 |
1904 |
|
EXT049 |
Extramedullary Soft Tissue Plasmacytoma |
7 |
1905 |
|
CNJ008 |
Conjunctival Concretion |
7 |
1906 |
|
ACT005 |
Acute Hydrops Keratoconus |
7 |
1907 |
|
CNG634 |
Congenital Insensitivity to Pain-Hyperhidrosis-Absence of Cutaneous Sensory Innervation |
7 |
1908 |
|
ERL058 |
Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus |
7 |
1909 |
|
RNG002 |
Ring Corneal Ulcer |
7 |
1910 |
|
CVT002 |
Cavitary Myiasis |
7 |
1911 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
7 |
1912 |
|
ISL079 |
Isolated Encephalocele |
7 |
1913 |
c
|
VTM032 |
Vitamin B6 Plasma Level Quantitative Trait Locus 1 |
7 |
1914 |
|
SPS235 |
Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency |
7 |
1915 |
|
EML001 |
Emilin-1-Related Connective Tissue Disease |
7 |
1916 |
c
|
PST116 |
Posterior Fossa Group B Ependymoma |
7 |
1917 |
|
ORG008 |
Orgasm-Induced Seizures |
7 |
1918 |
|
DPL002 |
Diplegia of Upper Limb |
7 |
1919 |
|
STR016 |
Steroid-Induced Glaucoma - Borderline |
6 |
1920 |
|
PHL002 |
Philophthalmiasis |
6 |
1921 |
|
MYC061 |
Myoclonic Epilepsy in Non-Progressive Encephalopathies |
6 |
1922 |
c
|
LSS022 |
Lissencephaly with Cerebellar Hypoplasia Type D |
6 |
1923 |
c
|
LSS023 |
Lissencephaly with Cerebellar Hypoplasia Type C |
6 |
1924 |
|
ATS449 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome |
6 |
1925 |
|
PRT098 |
Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome |
6 |
1926 |
c
|
PST012 |
Posterior Corneal Pigmentation |
6 |
1927 |
|
THN007 |
Thinking Seizures |
6 |
1928 |
|
MNN003 |
Mononeuritis of Upper Limb |
6 |
1929 |
|
LCL001 |
Localized Anterior Staphyloma |
6 |
1930 |
c
|
AST061 |
Astrocytoma, Idh-Mutant, Grade 3 |
6 |
1931 |
c
|
BNG038 |
Benign Autosomal Dominant Myopathy |
6 |
1932 |
c
|
AST060 |
Astrocytoma, Idh-Mutant, Grade 2 |
6 |
1933 |
|
GNC004 |
Gonococcal Iridocyclitis |
6 |
1934 |
|
LTH040 |
Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome |
5 |
1935 |
|
SYM001 |
Sympathetic Neurilemmoma |
5 |
1936 |
c
|
SPS172 |
Spastic Ataxia 7 |
5 |
1937 |
|
CNG234 |
Congenital Myopathy, Paradas Type |
5 |
1938 |
c
|
SCN083 |
Secondary Early-Onset Glaucoma |
5 |
1939 |
|
FLT003 |
Flat Retinoschisis |
5 |
1940 |
|
ANT015 |
Anatomical Narrow Angle Borderline Glaucoma |
5 |
1941 |
P
|
NNT056 |
Neonatal Epilepsy Syndrome |
5 |
1942 |
|
RSD001 |
Residual Stage Angle-Closure Glaucoma |
5 |
1943 |
c
|
RRC026 |
Rare Conjunctivitis |
5 |
1944 |
c
|
PRM303 |
Primary Early-Onset Glaucoma |
5 |
1945 |
|
MCR280 |
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome |
5 |
1946 |
c
|
KLH006 |
Klhl7-Related Bohring-Opitz-Like Syndrome |
5 |
1947 |
c
|
TRS028 |
Torsion Dystonia 17 |
5 |
1948 |
|
EXT011 |
Extrapyramidal and Movement Disease |
5 |
1949 |
c
|
ARX003 |
Arx-Related Epileptic Encephalopathy |
5 |
1950 |
c
|
ATS459 |
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect |
5 |
1951 |
|
NSL019 |
Nasal Ganglioglioma |
5 |
1952 |
|
IDP007 |
Idiopathic Progressive Polyneuropathy |
5 |
1953 |
P
|
ANT008 |
Anterior Corneal Pigmentation |
5 |
1954 |
|
MCL004 |
Macular Keratitis |
5 |
1955 |
|
ISL159 |
Isolated Melanotic Schwannoma |
5 |
1956 |
c
|
CHR572 |
Charcot-Marie-Tooth Disease Type 7 |
5 |
1957 |
c
|
SYS074 |
Systemic Diseases with Anterior Uveitis |
5 |
1958 |
|
SCH006 |
Schwannoma of Jugular Foramen |
5 |
1959 |
|
EPD007 |
Epidural Spinal Canal Angiolipoma |
5 |
1960 |
P
|
ISL048 |
Isolated Cerebellar Vermis Agenesis |
5 |
1961 |
|
SCH013 |
Schwannoma of Ureter |
5 |
1962 |
|
BNG027 |
Benign Mediastinal Psammomatous Neurilemmoma |
5 |
1963 |
c
|
GLC033 |
Glaucoma, Hereditary Adult Type 1a |
5 |
1964 |
c
|
GLC029 |
Glaucoma Type 1c |
5 |
1965 |
|
PPL011 |
Papillary Meningioma of the Cerebellum |
5 |
1966 |
c
|
GLC034 |
Glaucoma, Hereditary Juvenile Type 1b |
5 |
1967 |
c
|
GLC035 |
Glaucoma, Primary Infantile Type 3a |
5 |
1968 |
|
APR011 |
Aprosencephaly/atelencephaly Spectrum |
5 |
1969 |
c
|
FRG005 |
Fragile X Syndrome Type 2 |
4 |
1970 |
c
|
FRG006 |
Fragile X Syndrome Type 3 |
4 |
1971 |
c
|
FRG004 |
Fragile X Syndrome Type 1 |
4 |
1972 |
c
|
DDX001 |
Ddx3x-Related Intellectual Disability |
4 |
1973 |
|
SYN168 |
Syndrome with a Cerebellar Malformation As a Major Feature |
4 |
1974 |
|
LCR003 |
Lacrimal Passage Granuloma |
4 |
1975 |
|
FNC064 |
Functional Variant of Guillain-Barre Syndrome |
4 |
1976 |
|
CRP024 |
Corpus Callosum Oligodendroglioma |
4 |
1977 |
|
PRT004 |
Partial Sensory Epilepsy |
4 |
1978 |
|
STB001 |
Stable Condition Keratoconus |
4 |
1979 |
|
CNT008 |
Contact Lens Corneal Edema |
4 |
1980 |
|
PRS141 |
Persistent Combined Dystonia |
4 |
1981 |
|
PRT099 |
Parietal Lobe Ependymoma |
4 |
1982 |
P
|
PRM007 |
Primary Lacrimal Atrophy |
4 |
1983 |
|
PRS026 |
Parasitic Conjunctivitis |
4 |
1984 |
|
ATS457 |
Autosomal Recessive Syndromic Cerebellar Ataxia |
4 |
1985 |
c
|
SCN004 |
Secondary Vitreoretinal Degeneration |
4 |
1986 |
c
|
RRT014 |
Rare Tremor Disorder |
4 |
1987 |
c
|
SYS076 |
Systemic Diseases with Posterior Uveitis |
4 |
1988 |
|
EPD008 |
Epidural Spinal Canal Meningioma |
4 |
1989 |
|
CDQ002 |
Cauda Equina Intradural Extramedullary Astrocytoma |
4 |
1990 |
c
|
PRR041 |
Pure or Complex Autosomal Dominant Spastic Paraplegia |
4 |
1991 |
|
PRC007 |
Periocular Meningioma |
4 |
1992 |
|
CRB206 |
Cerebral Malformation with Epilepsy |
4 |
1993 |
c
|
ACT242 |
Acute and Subacute Inflammatory Demyelinating Polyneuropathy |
4 |
1994 |
|
MLF008 |
Malformation of the Cerebellar Hemispheres |
4 |
1995 |
c
|
ATP023 |
Atp13a2-Related Parkinsonism |
4 |
1996 |
|
BLP052 |
Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome |
4 |
1997 |
c
|
RRN016 |
Rare Inflammatory/autoimmune Corneal Disorder |
4 |
1998 |
|
TCT001 |
Tactile Epilepsy |
4 |
1999 |
|
RSC002 |
Rosacea Conjunctivitis |
4 |
2000 |
|
TTL003 |
Total Circumpapillary Dystrophy of Choroid |
4 |
2001 |
|
BWM001 |
Bowman's Membrane Folds or Rupture |
4 |
2002 |
|
SMP002 |
Simple Chronic Conjunctivitis |
4 |
2003 |
|
PRP014 |
Peripheral Degeneration of Cornea |
4 |
2004 |
|
PHT005 |
Phthisical Cornea |
4 |
2005 |
|
PRT016 |
Partial Circumpapillary Choroid Dystrophy |
4 |
2006 |
|
BNG064 |
Benign Partial Epilepsy of Infancy with Complex Partial Seizures |
4 |
2007 |
|
INT028 |
Intermixed Schwannian Stroma-Rich Ganglioneuroblastoma |
4 |
2008 |
c
|
RRS012 |
Rare Scleral Disorder |
4 |
2009 |
|
RNG001 |
Ring Staphyloma |
4 |
2010 |
|
PRP012 |
Peripheral Focal Chorioretinitis |
4 |
2011 |
|
GNC008 |
Gonococcal Endophthalmia |
4 |
2012 |
c
|
RRD050 |
Rare Disorder of the Pupil |
4 |
2013 |
|
CNT022 |
Central Gyrate Choroidal Dystrophy |
4 |
2014 |
|
CLD015 |
Cold-Induced Sweating Syndrome-Hyperthermia Spectrum |
4 |
2015 |
|
STR013 |
Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma |
3 |
2016 |
|
SYN102 |
Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature |
3 |
2017 |
|
CHR044 |
Chronic Toxic Polyneuropathy |
3 |
2018 |
c
|
FXG003 |
Foxg1 Syndrome Due to Intragenic Alteration |
3 |
2019 |
c
|
HYD017 |
Hydrocephalus Autosomal Recessive |
3 |
2020 |
|
CL4011 |
Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Hemorrhagic Tendancy |
3 |
2021 |
|
DFF008 |
Diffuse Secondary Choroid Atrophy |
3 |
2022 |
|
PLM197 |
Pleomorphic Xanthoastrocytoma Braf Mutant |
3 |
2023 |
|
CL4012 |
Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Ischemic Tendancy |
3 |
2024 |
c
|
SCN002 |
Secondary Lacrimal Atrophy |
3 |
2025 |
|
STN001 |
Stenosis of Lacrimal Sac |
3 |
2026 |
|
STN002 |
Stenosis of Lacrimal Punctum |
3 |
2027 |
|
ANG008 |
Angioid Streaks of Choroid |
3 |
2028 |
c
|
EPP002 |
Epiphora Due to Excess Lacrimation |
3 |
2029 |
|
RSD003 |
Residual Stage Corticosteroid-Induced Glaucoma |
3 |
2030 |
|
XLN236 |
X-Linked Intellectual Disability-Epilepsy Syndrome |
3 |
2031 |
|
ATS456 |
Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia |
3 |
2032 |
|
SNL006 |
Senile Atrophy of Choroid |
3 |
2033 |
|
CHR685 |
Chromosomal Anomaly with Epilepsy As a Major Feature |
2 |
2034 |
|
BNG065 |
Benign Partial Infantile Seizures |
2 |
2035 |
|
LYS027 |
Lysosomal Disease with Epilepsy |
2 |
2036 |
|
SPR171 |
Sporatic Amyotrophic Lateral Sclerosis |
2 |
2037 |
|
PST108 |
Postinfectious Autoimmune Disease with Chorea |
2 |
2038 |
|
SPH020 |
Sphingolipidosis with Epilepsy |
2 |
2039 |
|
ERB001 |
Erb-Duchenne and Dejerine-Klumpke Palsies |
1 |
2040 |
P
|
FVL008 |
Foveal Hypoplasia 2 |
30 |
2041 |
|
ALP100 |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
49 |
2042 |
c
|
ADT011 |
Auditory Neuropathy, Autosomal Dominant 1 |
37 |
2043 |
c
|
DFN133 |
Deafness, Autosomal Recessive 9 |
48 |
2044 |
|
INT319 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
43 |
2045 |
c
|
INT414 |
Intellectual Developmental Disorder, X-Linked 29 |
35 |
2046 |
c
|
INT430 |
Intellectual Developmental Disorder, X-Linked 98 |
32 |
2047 |
c
|
INT425 |
Intellectual Developmental Disorder, X-Linked 19 |
30 |
2048 |
c
|
INT427 |
Intellectual Developmental Disorder, X-Linked 90 |
24 |
2049 |
c
|
INT411 |
Intellectual Developmental Disorder, X-Linked 72 |
24 |
2050 |
c
|
INT492 |
Intellectual Developmental Disorder, X-Linked 2 |
20 |
2051 |
c
|
INT494 |
Intellectual Developmental Disorder, X-Linked 46 |
18 |
2052 |
c
|
INT487 |
Intellectual Developmental Disorder, X-Linked 14 |
15 |
2053 |
c
|
INT486 |
Intellectual Developmental Disorder, X-Linked 20 |
14 |
2054 |
|
NRG002 |
Neurogenic Bladder |
55 |
2055 |
|
ALP093 |
Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related |
25 |
2056 |
c
|
DFN352 |
Deafness, Autosomal Recessive 8 |
39 |
2057 |
P
|
GST047 |
Gastrointestinal Neuroendocrine Tumor |
36 |
2058 |
P
|
INT404 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
35 |
2059 |
c
|
AMY087 |
Amyloidosis, Hereditary, Transthyretin-Related |
67 |
2060 |
P
|
HRD207 |
Hereditary Transthyretin Amyloidosis |
32 |
2061 |
|
SYN092 |
Syndromic X-Linked Intellectual Disability Cabezas Type |
32 |
2062 |
|
SML004 |
Small Intestine Neuroendocrine Neoplasm |
24 |
2063 |
c
|
INT533 |
Intellectual Developmental Disorder, Autosomal Dominant 13 |
39 |
2064 |
|
PRM284 |
Primitive Neuroectodermal Tumor of the Cervix Uteri |
12 |
2065 |
|
NRN001 |
Neuroendocrine Carcinoma |
46 |
2066 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
34 |
2067 |
c
|
DFN250 |
Deafness, Autosomal Recessive 2 |
48 |
2068 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
32 |
2069 |
|
GST004 |
Gastric Neuroendocrine Neoplasm |
44 |
2070 |
|
IMM185 |
Immunodeficiency 26 with or Without Neurologic Abnormalities |
30 |
2071 |
|
ADR003 |
Adrenal Neuroblastoma |
27 |
2072 |
|
NNF009 |
Non-Functioning Neuroendocrine Tumor of Pancreas |
20 |
2073 |
|
HGH030 |
High-Grade Neuroendocrine Carcinoma of the Cervix Uteri |
18 |
2074 |
c
|
FRT006 |
Fourth Cranial Nerve Palsy, Familial Congenital |
17 |
2075 |
|
HGH029 |
High-Grade Neuroendocrine Carcinoma of the Corpus Uteri |
8 |
2076 |
|
BSL048 |
Basilicata-Akhtar Syndrome |
41 |
2077 |
|
LBR031 |
Leber Optic Atrophy and Dystonia |
40 |
2078 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
34 |
2079 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
33 |
2080 |
|
ATS252 |
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
32 |
2081 |
P
|
DFN349 |
Deafness, Nonsyndromic Sensorineural, Mitochondrial |
32 |
2082 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
29 |
2083 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
29 |
2084 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
29 |
2085 |
|
RTN232 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome |
28 |
2086 |
c
|
INT475 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
27 |
2087 |
|
ATS251 |
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
27 |
2088 |
c
|
INT558 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
26 |
2089 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
25 |
2090 |
c
|
INT424 |
Intellectual Developmental Disorder, X-Linked 97 |
24 |
2091 |
|
FNC065 |
Functioning Neuroendocrine Tumor of Pancreas |
18 |
2092 |
c
|
DFN348 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
13 |
2093 |
|
XLN174 |
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn |
12 |
2094 |
|
INT252 |
Intestinal Neuroendocrine Benign Tumor |
6 |
2095 |
|
DFN245 |
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct |
53 |
2096 |
c
|
DFN127 |
Deafness, Autosomal Recessive 7 |
38 |
2097 |
c
|
DFN124 |
Deafness, Autosomal Recessive 6 |
38 |
2098 |
c
|
DFN201 |
Deafness, Autosomal Recessive 3 |
38 |
2099 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
30 |
2100 |
c
|
INT436 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
29 |
2101 |
c
|
ADT012 |
Auditory Neuropathy, Autosomal Dominant 3 |
16 |
2102 |
P
|
URF003 |
Urofacial Syndrome 1 |
55 |
2103 |
|
INT417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
41 |
2104 |
|
OVR005 |
Ovarian Large-Cell Neuroendocrine Carcinoma |
31 |
2105 |
|
HNM002 |
Hinman Syndrome |
31 |
2106 |
c
|
VSC067 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
29 |
2107 |
P
|
ADT009 |
Auditory Neuropathy Spectrum Disorder |
28 |
2108 |
|
DFN356 |
Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement |
24 |
2109 |
c
|
URF002 |
Urofacial Syndrome 2 |
22 |
2110 |
c
|
VSC068 |
Visceral Neuropathy, Familial, 3, Autosomal Dominant |
20 |
2111 |
P
|
MJR001 |
Major Depressive Disorder |
75 |
2112 |
P
|
GRS003 |
Griscelli Syndrome |
56 |
2113 |
P
|
EMR017 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
53 |
2114 |
c
|
GRS014 |
Griscelli Syndrome, Type 2 |
53 |
2115 |
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
48 |
2116 |
c
|
INT520 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
46 |
2117 |
c
|
XLN241 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
42 |
2118 |
c
|
GRS012 |
Griscelli Syndrome, Type 3 |
40 |
2119 |
|
ADP007 |
Adie Pupil |
40 |
2120 |
|
VLT001 |
Vulto-Van Silfhout-De Vries Syndrome |
40 |
2121 |
P
|
INT454 |
Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures |
38 |
2122 |
c
|
INT542 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
37 |
2123 |
|
GND017 |
Gand Syndrome |
35 |
2124 |
|
INT578 |
Intellectual Developmental Disorder, Autosomal Dominant 30, with Speech Delay and Behavioral Abnormalities |
34 |
2125 |
c
|
INT550 |
Intellectual Developmental Disorder, Autosomal Dominant 41 |
34 |
2126 |
|
INT408 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
33 |
2127 |
c
|
CNG557 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
32 |
2128 |
c
|
INT507 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
31 |
2129 |
P
|
ATS522 |
Autosomal Dominant Intellectual Developmental Disorder |
31 |
2130 |
c
|
INT555 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
30 |
2131 |
c
|
INT549 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
30 |
2132 |
|
SYN090 |
Syndromic X-Linked Intellectual Disability Turner Type |
30 |
2133 |
c
|
INT546 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
29 |
2134 |
c
|
CNG547 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
29 |
2135 |
c
|
INT505 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
29 |
2136 |
|
CHR712 |
Chromosome 20q11-Q12 Deletion Syndrome |
28 |
2137 |
c
|
INT560 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
28 |
2138 |
c
|
INT554 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
28 |
2139 |
c
|
CNG551 |
Congenital Muscular Dystrophy-Dystroglycanopathy A7 |
27 |
2140 |
c
|
ATS523 |
Autosomal Recessive Intellectual Developmental Disorder |
26 |
2141 |
c
|
INT561 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
26 |
2142 |
c
|
INT523 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
24 |
2143 |
c
|
ATS524 |
Autosomal Dominant Intellectual Developmental Disorder 6 |
24 |
2144 |
c
|
INT559 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
24 |
2145 |
c
|
INT397 |
Intellectual Developmental Disorder, X-Linked 50 |
24 |
2146 |
|
MNT196 |
Mental Retardation, X-Linked 92 |
24 |
2147 |
|
URN001 |
Urinary Bladder Small Cell Neuroendocrine Carcinoma |
24 |
2148 |
c
|
INT462 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
23 |
2149 |
c
|
CNG559 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
22 |
2150 |
|
SYN062 |
Syncope, Familial Vasovagal |
19 |
2151 |
c
|
MJR013 |
Major Depressive Disorder 1 |
16 |
2152 |
c
|
MJR014 |
Major Depressive Disorder 2 |
16 |
2153 |
c
|
CNG555 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 |
9 |
2154 |
|
PSY004 |
Psychotic Disorder |
69 |
2155 |
c
|
DFN097 |
Deafness, Autosomal Recessive 1a |
51 |
2156 |
c
|
DFN141 |
Deafness, Autosomal Recessive 12 |
47 |
2157 |
c
|
DFN136 |
Deafness, Autosomal Dominant 9 |
46 |
2158 |
c
|
DFN200 |
Deafness, Autosomal Dominant 17 |
44 |
2159 |
c
|
DFN197 |
Deafness, Autosomal Recessive 37 |
43 |
2160 |
c
|
DFN103 |
Deafness, Autosomal Recessive 1b |
41 |
2161 |
c
|
DFN203 |
Deafness, Autosomal Recessive 30 |
41 |
2162 |
|
OKR001 |
Okur-Chung Neurodevelopmental Syndrome |
41 |
2163 |
c
|
DFN111 |
Deafness, Autosomal Recessive 35 |
38 |
2164 |
c
|
DFN117 |
Deafness, Autosomal Dominant 15 |
37 |
2165 |
c
|
ATS006 |
Autosomal Recessive Nonsyndromic Deafness |
37 |
2166 |
c
|
DFN259 |
Deafness, Autosomal Recessive 86 |
37 |
2167 |
c
|
DFN244 |
Deafness, Autosomal Recessive 42 |
36 |
2168 |
c
|
DFN155 |
Deafness, Autosomal Dominant 41 |
34 |
2169 |
c
|
INT403 |
Intellectual Developmental Disorder, X-Linked 21 |
34 |
2170 |
c
|
DFN360 |
Deafness, Autosomal Dominant 69 |
34 |
2171 |
c
|
DFN277 |
Deafness, Autosomal Recessive 102 |
33 |
2172 |
c
|
DFN120 |
Deafness, Autosomal Recessive 39 |
33 |
2173 |
c
|
DFN280 |
Deafness, Autosomal Recessive |
33 |
2174 |
c
|
DFN260 |
Deafness, Autosomal Recessive 89 |
33 |
2175 |
c
|
DFN248 |
Deafness, Autosomal Recessive 18b |
32 |
2176 |
c
|
DFN254 |
Deafness, Autosomal Recessive 84b |
31 |
2177 |
c
|
DFN281 |
Deafness, Autosomal Recessive 103 |
30 |
2178 |
c
|
DFN148 |
Deafness, Autosomal Dominant 16 |
29 |
2179 |
c
|
DFN192 |
Deafness, Autosomal Dominant 23 |
29 |
2180 |
c
|
DFN099 |
Deafness, Autosomal Dominant 2b |
29 |
2181 |
c
|
DFN118 |
Deafness, Autosomal Dominant 44 |
29 |
2182 |
c
|
DFN183 |
Deafness, Autosomal Recessive 83 |
29 |
2183 |
c
|
DFN119 |
Deafness, Autosomal Dominant 50 |
29 |
2184 |
|
INT518 |
Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures |
29 |
2185 |
c
|
DFN273 |
Deafness, Autosomal Recessive 101 |
28 |
2186 |
c
|
INT434 |
Intellectual Developmental Disorder, X-Linked 12 |
28 |
2187 |
c
|
ATS005 |
Autosomal Dominant Nonsyndromic Deafness |
27 |
2188 |
|
MNG003 |
Mungan Syndrome |
27 |
2189 |
c
|
ATS380 |
Autosomal Recessive Nonsyndromic Deafness 36 |
27 |
2190 |
c
|
DFN246 |
Deafness, Autosomal Dominant 51 |
27 |
2191 |
c
|
ATS409 |
Autosomal Recessive Nonsyndromic Deafness 32 |
27 |
2192 |
c
|
DFN152 |
Deafness, Autosomal Dominant 27 |
26 |
2193 |
c
|
DFN257 |
Deafness, Autosomal Dominant 33 |
26 |
2194 |
|
ABN011 |
Abnormal Hair, Joint Laxity, and Developmental Delay |
26 |
2195 |
c
|
DFN030 |
Deafness, Autosomal Recessive 55 |
25 |
2196 |
c
|
OTF001 |
Otof-Related Deafness |
25 |
2197 |
c
|
DFN173 |
Deafness, Autosomal Recessive 40 |
25 |
2198 |
c
|
DFN271 |
Deafness, Autosomal Dominant 58 |
25 |
2199 |
c
|
DFN169 |
Deafness, Autosomal Recessive 27 |
24 |
2200 |
c
|
DFN162 |
Deafness, Autosomal Dominant 59 |
24 |
2201 |
c
|
ATS528 |
Autosomal Recessive Nonsyndromic Deafness 70 |
24 |
2202 |
c
|
DFN240 |
Deafness, Autosomal Recessive 96 |
24 |
2203 |
c
|
DFN179 |
Deafness, Autosomal Recessive 62 |
24 |
2204 |
c
|
DFN149 |
Deafness, Autosomal Dominant 18 |
24 |
2205 |
c
|
DFN174 |
Deafness, Autosomal Recessive 44 |
23 |
2206 |
c
|
DFN184 |
Deafness, Autosomal Recessive 85 |
23 |
2207 |
c
|
DFN166 |
Deafness, Autosomal Recessive 17 |
23 |
2208 |
|
INT459 |
Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly |
22 |
2209 |
|
NRD071 |
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements |
22 |
2210 |
c
|
DFN160 |
Deafness, Autosomal Dominant 52 |
22 |
2211 |
c
|
DFN151 |
Deafness, Autosomal Dominant 24 |
20 |
2212 |
c
|
DFN029 |
Deafness, Autosomal Recessive 51 |
20 |
2213 |
c
|
DFN333 |
Deafness, Autosomal Dominant 73 |
20 |
2214 |
c
|
DFN171 |
Deafness, Autosomal Recessive 33 |
19 |
2215 |
c
|
DFN165 |
Deafness, Autosomal Recessive 14 |
19 |
2216 |
c
|
DFN164 |
Deafness, Autosomal Recessive 13 |
18 |
2217 |
c
|
DFN368 |
Deafness, Autosomal Dominant 74 |
18 |
2218 |
c
|
DFN167 |
Deafness, Autosomal Recessive 20 |
18 |
2219 |
c
|
DFN180 |
Deafness, Autosomal Recessive 65 |
18 |
2220 |
c
|
DFN158 |
Deafness, Autosomal Dominant 49 |
18 |
2221 |
c
|
DFN243 |
Deafness, Autosomal Recessive 88 |
17 |
2222 |
c
|
DFN154 |
Deafness, Autosomal Dominant 31 |
17 |
2223 |
c
|
DFN272 |
Deafness, Autosomal Dominant 54 |
17 |
2224 |
c
|
DFN161 |
Deafness, Autosomal Dominant 53 |
17 |
2225 |
c
|
DFN381 |
Deafness, Autosomal Dominant 75 |
17 |
2226 |
c
|
DFN156 |
Deafness, Autosomal Dominant 43 |
16 |
2227 |
c
|
ATS490 |
Autosomal Dominant Nonsyndromic Deafness 77 |
16 |
2228 |
c
|
DFN153 |
Deafness, Autosomal Dominant 30 |
16 |
2229 |
c
|
ATS484 |
Autosomal Dominant Nonsyndromic Deafness 78 |
16 |
2230 |
c
|
DFN261 |
Deafness, Autosomal Recessive 46 |
16 |
2231 |
c
|
DFN157 |
Deafness, Autosomal Dominant 47 |
15 |
2232 |
c
|
DFN172 |
Deafness, Autosomal Recessive 38 |
15 |
2233 |
c
|
DFN182 |
Deafness, Autosomal Recessive 71 |
14 |
2234 |
c
|
DFN175 |
Deafness, Autosomal Recessive 45 |
14 |
2235 |
c
|
ATS487 |
Autosomal Dominant Nonsyndromic Deafness 74 |
13 |
2236 |
P
|
RRD005 |
Rare Deafness |
13 |
2237 |
c
|
ATS485 |
Autosomal Dominant Nonsyndromic Deafness 79 |
6 |
2238 |
c
|
ATS489 |
Autosomal Dominant Nonsyndromic Deafness 76 |
6 |
2239 |
c
|
ATS488 |
Autosomal Dominant Nonsyndromic Deafness 75 |
6 |
2240 |
c
|
ATS486 |
Autosomal Recessive Nonsyndromic Deafness 116 |
6 |
2241 |
c
|
ATS396 |
Autosomal Recessive Nonsyndromic Deafness 106 |
5 |
2242 |
c
|
ATS399 |
Autosomal Dominant Nonsyndromic Deafness 71 |
5 |
2243 |
c
|
ATS401 |
Autosomal Dominant Nonsyndromic Deafness 73 |
5 |
2244 |
c
|
ATS398 |
Autosomal Recessive Nonsyndromic Deafness 108 |
5 |
2245 |
c
|
ATS397 |
Autosomal Recessive Nonsyndromic Deafness 107 |
5 |
2246 |
c
|
ATS400 |
Autosomal Dominant Nonsyndromic Deafness 72 |
5 |
2247 |
c
|
ATS402 |
Autosomal Dominant Nonsyndromic Deafness 34 |
5 |
2248 |
P
|
FML018 |
Familial Mediterranean Fever |
75 |
2249 |
|
ANX010 |
Anxiety |
69 |
2250 |
P
|
VSC007 |
Vascular Disease |
64 |
2251 |
P
|
LRG012 |
Large Congenital Melanocytic Nevus |
53 |
2252 |
P
|
RHB008 |
Rhabdoid Tumor Predisposition Syndrome 1 |
48 |
2253 |
|
HGH043 |
High Grade Glioma |
47 |
2254 |
c
|
PRV019 |
Periventricular Nodular Heterotopia 1 |
42 |
2255 |
|
BRK002 |
Birk-Barel Syndrome |
39 |
2256 |
|
PLM039 |
Pulmonary Neuroendocrine Tumor |
36 |
2257 |
|
MLL023 |
Mullegama-Klein-Martinez Syndrome |
35 |
2258 |
c
|
INT446 |
Intellectual Developmental Disorder, X-Linked 1 |
35 |
2259 |
c
|
INT342 |
Intellectual Developmental Disorder, X-Linked 108 |
32 |
2260 |
c
|
INT419 |
Intellectual Developmental Disorder, X-Linked 30 |
30 |
2261 |
c
|
INT420 |
Intellectual Developmental Disorder, X-Linked 93 |
27 |
2262 |
c
|
INT431 |
Intellectual Developmental Disorder, X-Linked 99 |
27 |
2263 |
|
HYP697 |
Hyperphosphatasia with Mental Retardation Syndrome 6 |
26 |
2264 |
c
|
FML344 |
Familial Mediterranean Fever, Autosomal Dominant |
26 |
2265 |
|
NRD150 |
Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features |
26 |
2266 |
c
|
INT439 |
Intellectual Developmental Disorder, X-Linked 104 |
26 |
2267 |
|
INT458 |
Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy |
25 |
2268 |
c
|
INT442 |
Intellectual Developmental Disorder, X-Linked 106 |
25 |
2269 |
|
NRN006 |
Neuroendocrine Carcinoma of the Cervix |
22 |
2270 |
c
|
INT438 |
Intellectual Developmental Disorder, X-Linked 103 |
22 |
2271 |
c
|
INT519 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
22 |
2272 |
c
|
INT445 |
Intellectual Developmental Disorder, X-Linked 107 |
21 |
2273 |
|
NRD090 |
Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements |
21 |
2274 |
|
JJN009 |
Jejunal Neuroendocrine Tumor |
20 |
2275 |
c
|
INT440 |
Intellectual Developmental Disorder, X-Linked 105 |
19 |
2276 |
c
|
INT433 |
Intellectual Developmental Disorder, X-Linked 101 |
19 |
2277 |
c
|
INT432 |
Intellectual Developmental Disorder, X-Linked 100 |
17 |
2278 |
|
EPL170 |
Epilepsy-Aphasia Spectrum |
17 |
2279 |
c
|
RRV009 |
Rare Vascular Disease |
14 |
2280 |
c
|
PRV013 |
Periventricular Nodular Heterotopia 3 |
13 |
2281 |
|
NRN043 |
Neuroendocrine Neoplasm of Esophagus |
11 |
2282 |
|
SRT005 |
Serotonin-Producing Neuroendocrine Tumor of Pancreas |
10 |
2283 |
|
MTH089 |
Methylmalonic Aciduria and Homocystinuria, Cblx Type |
48 |
2284 |
c
|
ATS525 |
Autosomal Dominant Intellectual Developmental Disorder 8 |
38 |
2285 |
|
CBL011 |
Cebalid Syndrome |
37 |
2286 |
c
|
INT455 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
35 |
2287 |
|
SHR058 |
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly |
35 |
2288 |
|
PLM038 |
Pulmonary Large Cell Neuroendocrine Carcinoma |
35 |
2289 |
|
EXT065 |
Extraosseous Ewing Sarcoma |
35 |
2290 |
c
|
INT557 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
32 |
2291 |
c
|
DFN178 |
Deafness, Autosomal Recessive 59 |
31 |
2292 |
|
MMS001 |
Momo Syndrome |
29 |
2293 |
|
INT437 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
28 |
2294 |
P
|
NRN038 |
Neuronal Intestinal Dysplasia, Type B |
27 |
2295 |
c
|
INT562 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
27 |
2296 |
|
INT369 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
27 |
2297 |
c
|
CNG558 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
27 |
2298 |
|
NRD052 |
Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures |
25 |
2299 |
|
INT416 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
25 |
2300 |
c
|
INT544 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
25 |
2301 |
|
PRS131 |
Prostate Cancer/brain Cancer Susceptibility |
25 |
2302 |
c
|
INT508 |
Intellectual Developmental Disorder, Autosomal Recessive 7 |
25 |
2303 |
c
|
INT471 |
Intellectual Developmental Disorder, Autosomal Recessive 27 |
24 |
2304 |
c
|
INT479 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
24 |
2305 |
|
NRN033 |
Neuroendocrine Tumor of the Colon |
24 |
2306 |
c
|
INT540 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
23 |
2307 |
c
|
INT364 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
23 |
2308 |
c
|
INT468 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
23 |
2309 |
c
|
ATS529 |
Autosomal Dominant Intellectual Developmental Disorder 40 |
22 |
2310 |
c
|
CNG552 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
22 |
2311 |
c
|
NNS083 |
Non-Syndromic X-Linked Intellectual Disability 1 |
22 |
2312 |
c
|
INT474 |
Intellectual Developmental Disorder, Autosomal Recessive 43 |
22 |
2313 |
|
NRD060 |
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia |
22 |
2314 |
c
|
INT565 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
21 |
2315 |
c
|
INT423 |
Intellectual Developmental Disorder, X-Linked 96 |
21 |
2316 |
|
NRN045 |
Neuroendocrine Neoplasm of Appendix |
20 |
2317 |
c
|
SYN170 |
Syndromic X-Linked Intellectual Disability 94 |
20 |
2318 |
c
|
INT429 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
19 |
2319 |
|
DFF020 |
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia |
19 |
2320 |
c
|
INT461 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
18 |
2321 |
c
|
INT463 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
18 |
2322 |
|
EXT008 |
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor |
17 |
2323 |
c
|
INT465 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
17 |
2324 |
c
|
INT470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 7 |
17 |
2325 |
|
CHR675 |
Chronic Relapsing Inflammatory Optic Neuropathy |
17 |
2326 |
|
DBT089 |
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification |
17 |
2327 |
c
|
INT500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
16 |
2328 |
|
INT501 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
16 |
2329 |
|
RTN071 |
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism |
15 |
2330 |
c
|
INT489 |
Intellectual Developmental Disorder, X-Linked 53 |
14 |
2331 |
|
OCL031 |
Oculo-Cerebral Dysplasia |
9 |
2332 |
|
CHL176 |
Childhood Cns Choriocarcinoma |
7 |
2333 |
|
MLG125 |
Malignant Mediastinal Neurogenic Neoplasm |
6 |
2334 |
|
MRK001 |
Merkel Cell Carcinoma |
67 |
2335 |
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
66 |
2336 |
c
|
MLN065 |
Melanocytic Nevus Syndrome, Congenital |
59 |
2337 |
P
|
XRD029 |
Xeroderma Pigmentosum, Complementation Group a |
57 |
2338 |
c
|
MTC054 |
Mitochondrial Dna Depletion Syndrome 7 |
56 |
2339 |
|
CD4003 |
Cd40 Ligand Deficiency |
56 |
2340 |
c
|
XRD031 |
Xeroderma Pigmentosum, Complementation Group F |
56 |
2341 |
|
GLT007 |
Glutathione Synthetase Deficiency |
51 |
2342 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
49 |
2343 |
|
OSS014 |
Ossification of the Posterior Longitudinal Ligament of Spine |
46 |
2344 |
c
|
DFN247 |
Deafness, Autosomal Recessive 18a |
42 |
2345 |
c
|
DFN128 |
Deafness, Autosomal Dominant 36 |
42 |
2346 |
c
|
DFN093 |
Deafness, Autosomal Recessive 23 |
42 |
2347 |
c
|
DFN189 |
Deafness, Autosomal Dominant 25 |
42 |
2348 |
c
|
MTC065 |
Mitochondrial Dna Depletion Syndrome 8a |
41 |
2349 |
c
|
DFN139 |
Deafness, Autosomal Recessive 29 |
41 |
2350 |
c
|
DFN112 |
Deafness, Autosomal Recessive 63 |
41 |
2351 |
c
|
DFN107 |
Deafness, Autosomal Dominant 10 |
40 |
2352 |
c
|
DFN143 |
Deafness, Autosomal Recessive 16 |
39 |
2353 |
c
|
DFN130 |
Deafness, Autosomal Recessive 21 |
39 |
2354 |
c
|
DFN092 |
Deafness, Autosomal Recessive 49 |
39 |
2355 |
c
|
DFN267 |
Deafness, Autosomal Dominant 4a |
39 |
2356 |
c
|
DFN098 |
Deafness, Autosomal Dominant 3a |
39 |
2357 |
c
|
DFN170 |
Deafness, Autosomal Recessive 31 |
38 |
2358 |
c
|
DFN262 |
Deafness, Autosomal Recessive 15 |
38 |
2359 |
c
|
DFN351 |
Deafness, Autosomal Dominant 6 |
38 |
2360 |
c
|
DFN102 |
Deafness, Autosomal Dominant 3b |
38 |
2361 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
38 |
2362 |
c
|
DFN190 |
Deafness, Autosomal Dominant 2a |
38 |
2363 |
c
|
PRR020 |
Perrault Syndrome 1 |
37 |
2364 |
c
|
DFN202 |
Deafness, Autosomal Dominant 48 |
36 |
2365 |
c
|
DFN159 |
Deafness, Autosomal Dominant 5 |
36 |
2366 |
c
|
DFN354 |
Deafness, Autosomal Dominant 20 |
35 |
2367 |
|
CFL005 |
Cafe-Au-Lait Spots, Multiple |
33 |
2368 |
c
|
DFN132 |
Deafness, Autosomal Recessive 22 |
33 |
2369 |
c
|
DFN137 |
Deafness, Autosomal Dominant 13 |
33 |
2370 |
c
|
SPS025 |
Spastic Paraplegia 15 |
32 |
2371 |
c
|
DFN121 |
Deafness, Autosomal Recessive 28 |
32 |
2372 |
c
|
DFN188 |
Deafness, Autosomal Recessive 61 |
32 |
2373 |
c
|
DFN255 |
Deafness, Autosomal Dominant 64 |
31 |
2374 |
c
|
DFN094 |
Deafness, Autosomal Dominant 28 |
31 |
2375 |
|
SQL002 |
Squalene Synthase Deficiency |
29 |
2376 |
|
NRD037 |
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies |
29 |
2377 |
|
PRR044 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
27 |
2378 |
|
NRD039 |
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language |
27 |
2379 |
c
|
PRR022 |
Perrault Syndrome 2 |
26 |
2380 |
|
FCL093 |
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome |
25 |
2381 |
c
|
PRR026 |
Perrault Syndrome 5 |
25 |
2382 |
c
|
DFN258 |
Deafness, Autosomal Recessive 48 |
24 |
2383 |
c
|
DFN138 |
Deafness, Autosomal Recessive 53 |
24 |
2384 |
|
NRD046 |
Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities |
24 |
2385 |
|
NRD104 |
Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities |
23 |
2386 |
|
PGN002 |
Paganini-Miozzo Syndrome |
22 |
2387 |
|
NRD142 |
Neurodevelopmental Disorder with Hearing Loss and Spasticity |
22 |
2388 |
|
INT311 |
Intellectual Developmental Disorder with Neuropsychiatric Features |
21 |
2389 |
c
|
PRR033 |
Perrault Syndrome 6 |
21 |
2390 |
|
INT569 |
Intellectual Developmental Disorder with or Without Peripheral Neuropathy |
20 |
2391 |
|
LBR039 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
19 |
2392 |
c
|
ATT025 |
Attention Deficit-Hyperactivity Disorder 8 |
14 |
2393 |
c
|
ATT021 |
Attention Deficit-Hyperactivity Disorder 3 |
13 |
2394 |
c
|
ATT020 |
Attention Deficit-Hyperactivity Disorder 2 |
12 |
2395 |
c
|
ATT019 |
Attention Deficit-Hyperactivity Disorder 1 |
12 |
2396 |
c
|
ATT022 |
Attention Deficit-Hyperactivity Disorder 4 |
11 |
2397 |
P
|
HRS035 |
Hirschsprung Disease 1 |
69 |
2398 |
c
|
MSC170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
69 |
2399 |
P
|
HYP086 |
Hypothyroidism |
68 |
2400 |
P
|
CNG042 |
Congenital Central Hypoventilation Syndrome |
67 |
2401 |
c
|
ORF037 |
Orofaciodigital Syndrome I |
64 |
2402 |
c
|
CNG006 |
Congenital Hypothyroidism |
64 |
2403 |
c
|
CNT119 |
Central Hypoventilation Syndrome, Congenital, 1 |
62 |
2404 |
P
|
NTR004 |
Neutropenia |
61 |
2405 |
c
|
ORF040 |
Orofaciodigital Syndrome Viii |
59 |
2406 |
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
58 |
2407 |
c
|
SVR003 |
Severe Congenital Neutropenia |
58 |
2408 |
P
|
BPL003 |
Bipolar Disorder |
57 |
2409 |
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
56 |
2410 |
c
|
XRD023 |
Xeroderma Pigmentosum, Complementation Group G |
54 |
2411 |
c
|
MSC048 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
51 |
2412 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
51 |
2413 |
|
SMT006 |
Somatoform Disorder |
50 |
2414 |
c
|
MSC176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
50 |
2415 |
c
|
MSC042 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
50 |
2416 |
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
49 |
2417 |
c
|
ORF035 |
Orofaciodigital Syndrome Iv |
49 |
2418 |
P
|
ORF001 |
Orofaciodigital Syndrome |
49 |
2419 |
c
|
MSC173 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
48 |
2420 |
|
CRY008 |
Cryopyrin-Associated Periodic Syndrome |
48 |
2421 |
c
|
ORF033 |
Orofaciodigital Syndrome V |
47 |
2422 |
c
|
BPL002 |
Bipolar I Disorder |
47 |
2423 |
c
|
MSC178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
47 |
2424 |
P
|
THY061 |
Thyroid Dyshormonogenesis 2a |
46 |
2425 |
c
|
ATS298 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
46 |
2426 |
c
|
MSC172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
46 |
2427 |
c
|
ATS279 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
46 |
2428 |
c
|
ATS207 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
45 |
2429 |
c
|
MSC174 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
44 |
2430 |
c
|
FML297 |
Familial Thyroid Dyshormonogenesis |
44 |
2431 |
c
|
SVR107 |
Severe Congenital Neutropenia 3 |
44 |
2432 |
c
|
MSC177 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
43 |
2433 |
c
|
ATS246 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
43 |
2434 |
c
|
MSC171 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
43 |
2435 |
c
|
ATS277 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
43 |
2436 |
c
|
ATS331 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
42 |
2437 |
c
|
ATS217 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
42 |
2438 |
c
|
MSC179 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
41 |
2439 |
c
|
MSC180 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
41 |
2440 |
c
|
ATS297 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
40 |
2441 |
c
|
ORF038 |
Orofaciodigital Syndrome Iii |
40 |
2442 |
c
|
HRS036 |
Hirschsprung Disease 2 |
40 |
2443 |
c
|
SVR110 |
Severe Congenital Neutropenia 4 |
39 |
2444 |
c
|
MSC183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
39 |
2445 |
c
|
MSC181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
38 |
2446 |
c
|
ORF043 |
Orofaciodigital Syndrome Ix |
38 |
2447 |
c
|
INT516 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
37 |
2448 |
P
|
ATS366 |
Autism X-Linked 2 |
37 |
2449 |
c
|
SVR106 |
Severe Congenital Neutropenia 5 |
37 |
2450 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
37 |
2451 |
c
|
MSC184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
37 |
2452 |
c
|
ATS299 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
36 |
2453 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
36 |
2454 |
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
36 |
2455 |
c
|
THY063 |
Thyroid Dyshormonogenesis 4 |
36 |
2456 |
c
|
ATS211 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
36 |
2457 |
|
ANR009 |
Aneurysmal Bone Cysts |
35 |
2458 |
c
|
THY056 |
Thyroid Dyshormonogenesis 3 |
35 |
2459 |
c
|
THY110 |
Thyroid Dyshormonogenesis 6 |
35 |
2460 |
c
|
MSC189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
34 |
2461 |
c
|
LMB073 |
Limb-Girdle Muscular Dystrophy Type 1a |
34 |
2462 |
c
|
ATS483 |
Autosomal Dominant Severe Congenital Neutropenia |
33 |
2463 |
c
|
CRB099 |
Cerebrooculofacioskeletal Syndrome 3 |
33 |
2464 |
c
|
NTR054 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
33 |
2465 |
c
|
ORF036 |
Orofaciodigital Syndrome Xiv |
31 |
2466 |
c
|
ATS280 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
31 |
2467 |
c
|
SVR104 |
Severe Congenital Neutropenia 7 |
31 |
2468 |
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
31 |
2469 |
c
|
MSC058 |
Muscular Dystrophy, Limb-Girdle, Type 1h |
30 |
2470 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
30 |
2471 |
|
CNG545 |
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies |
30 |
2472 |
|
INT441 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
29 |
2473 |
|
DVL024 |
Developmental Delay with or Without Dysmorphic Facies and Autism |
29 |
2474 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
29 |
2475 |
c
|
MSC191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
29 |
2476 |
c
|
HYP488 |
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
28 |
2477 |
c
|
ORF041 |
Orofaciodigital Syndrome X |
28 |
2478 |
|
CLF045 |
Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa |
28 |
2479 |
c
|
DBT105 |
Diabetes Mellitus, Permanent Neonatal, 2 |
27 |
2480 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
27 |
2481 |
c
|
INT563 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
27 |
2482 |
c
|
MSC187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
27 |
2483 |
c
|
INT517 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
27 |
2484 |
c
|
ATS333 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
27 |
2485 |
c
|
ATS367 |
Autism X-Linked 3 |
26 |
2486 |
c
|
THY062 |
Thyroid Dyshormonogenesis 5 |
26 |
2487 |
c
|
CNT101 |
Central Congenital Hypothyroidism |
26 |
2488 |
c
|
INT447 |
Intellectual Developmental Disorder, X-Linked 9 |
26 |
2489 |
c
|
INT545 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
26 |
2490 |
c
|
ORF042 |
Orofaciodigital Syndrome Xi |
26 |
2491 |
|
NRD109 |
Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies |
26 |
2492 |
|
SPN428 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant |
26 |
2493 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
2494 |
c
|
ORF046 |
Orofaciodigital Syndrome Xvi |
25 |
2495 |
c
|
HRS029 |
Hirschsprung Disease 4 |
25 |
2496 |
|
NRD043 |
Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities |
25 |
2497 |
c
|
LMB074 |
Limb-Girdle Muscular Dystrophy Type 1b |
25 |
2498 |
|
NRD084 |
Neurodevelopmental Disorder with Absent Language and Variable Seizures |
25 |
2499 |
c
|
INT413 |
Intellectual Developmental Disorder, X-Linked 63 |
25 |
2500 |
c
|
ORF051 |
Orofaciodigital Syndrome Xvii |
25 |
2501 |
c
|
SVR108 |
Severe Congenital Neutropenia 6 |
25 |
2502 |
|
INT383 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
25 |
2503 |
c
|
ORF052 |
Orofaciodigital Syndrome Xviii |
25 |
2504 |
|
NRD072 |
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities |
25 |
2505 |
|
NRD120 |
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy |
24 |
2506 |
c
|
HRS034 |
Hirschsprung Disease 3 |
24 |
2507 |
c
|
ATS365 |
Autism X-Linked 1 |
24 |
2508 |
c
|
INT400 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
24 |
2509 |
c
|
ATS332 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
24 |
2510 |
c
|
INT478 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
24 |
2511 |
c
|
ORF045 |
Orofaciodigital Syndrome Xv |
24 |
2512 |
c
|
INT426 |
Intellectual Developmental Disorder, X-Linked 41 |
24 |
2513 |
c
|
INT477 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
24 |
2514 |
|
NRD144 |
Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia |
24 |
2515 |
|
ALZ064 |
Alzahrani-Kuwahara Syndrome |
24 |
2516 |
|
INT570 |
Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features |
24 |
2517 |
c
|
MSC186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
23 |
2518 |
c
|
NTR056 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
23 |
2519 |
|
NRD069 |
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment |
23 |
2520 |
|
EPL253 |
Epilepsy, Early-Onset, with or Without Developmental Delay |
23 |
2521 |
c
|
INT484 |
Intellectual Developmental Disorder, Autosomal Recessive 1 |
23 |
2522 |
|
NRD066 |
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements |
22 |
2523 |
c
|
MSC202 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
22 |
2524 |
|
NRD025 |
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations |
22 |
2525 |
|
DFN389 |
Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy |
22 |
2526 |
|
RCH010 |
Richieri-Costa/guion-Almeida Syndrome |
22 |
2527 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
22 |
2528 |
c
|
INT398 |
Intellectual Developmental Disorder, Autosomal Recessive 12 |
22 |
2529 |
c
|
INT452 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
22 |
2530 |
c
|
INT406 |
Intellectual Developmental Disorder, X-Linked 58 |
22 |
2531 |
c
|
INT575 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
22 |
2532 |
|
MTB009 |
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression |
22 |
2533 |
|
STB004 |
Setbp1 Haploinsufficiency Disorder |
22 |
2534 |
c
|
INT480 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
21 |
2535 |
|
RLN005 |
Rolandic Epilepsy, Impaired Intellectual Development, and Speech Dyspraxia, X-Linked |
21 |
2536 |
c
|
ORF039 |
Orofaciodigital Syndrome Vii |
21 |
2537 |
|
BRN151 |
Brunet-Wagner Neurodevelopmental Syndrome |
20 |
2538 |
|
NRD170 |
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment |
20 |
2539 |
|
CRP038 |
Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia |
20 |
2540 |
c
|
MSC199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
20 |
2541 |
c
|
ATS354 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
20 |
2542 |
c
|
SVR103 |
Severe Congenital Neutropenia 1 |
20 |
2543 |
c
|
TSS007 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 2 |
19 |
2544 |
c
|
INT512 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
19 |
2545 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
19 |
2546 |
c
|
TSS008 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
19 |
2547 |
|
CRV015 |
Cervical Large Cell Neuroendocrine Carcinoma |
18 |
2548 |
c
|
INT541 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
18 |
2549 |
c
|
TSS009 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
17 |
2550 |
c
|
HRS027 |
Hirschsprung Disease 5 |
17 |
2551 |
c
|
ACQ053 |
Acquired Neutropenia |
17 |
2552 |
|
DFN398 |
Deafness, Autosomal Recessive 70, with or Without Adult-Onset Neurodegeneration |
17 |
2553 |
|
NRD177 |
Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia |
17 |
2554 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
17 |
2555 |
|
DVL144 |
Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders |
17 |
2556 |
|
NRD178 |
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities |
17 |
2557 |
|
NRD157 |
Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures |
16 |
2558 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
16 |
2559 |
c
|
ATS177 |
Autism X-Linked 5 |
16 |
2560 |
c
|
SVR105 |
Severe Congenital Neutropenia 2 |
16 |
2561 |
|
NRD168 |
Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures |
15 |
2562 |
|
THY092 |
Thymic Neuroendocrine Carcinoma |
15 |
2563 |
|
NRD165 |
Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures |
15 |
2564 |
c
|
PMG002 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
14 |
2565 |
|
NRD171 |
Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties |
14 |
2566 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
2567 |
c
|
INT511 |
Intellectual Developmental Disorder, Autosomal Recessive 11 |
14 |
2568 |
c
|
CNG543 |
Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies |
14 |
2569 |
c
|
ELN001 |
Elane-Related Neutropenia |
13 |
2570 |
c
|
ORF054 |
Orofaciodigital Syndrome Xix |
13 |
2571 |
c
|
ORF006 |
Orofaciodigital Syndrome 13 |
13 |
2572 |
c
|
ORF005 |
Orofaciodigital Syndrome 12 |
13 |
2573 |
c
|
HRS024 |
Hirschsprung Disease 9 |
13 |
2574 |
c
|
HRS026 |
Hirschsprung Disease 7 |
13 |
2575 |
c
|
HRS028 |
Hirschsprung Disease 6 |
13 |
2576 |
|
NRD167 |
Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay |
12 |
2577 |
c
|
HRS025 |
Hirschsprung Disease 8 |
12 |
2578 |
c
|
RRH009 |
Rare Hypothyroidism |
12 |
2579 |
c
|
CNG591 |
Congenital Hypothyroidism Due to Developmental Anomaly |
8 |
2580 |
c
|
ATS531 |
Autosomal Recessive Intellectual Developmental Disorder 75 |
6 |
2581 |
c
|
TRN076 |
Transient Congenital Hypothyroidism Due to Neonatal Factor |
5 |
2582 |
c
|
HYP232 |
Hypothyroidism Due to Iodide Transport Defect |
5 |
2583 |
c
|
TRN075 |
Transient Congenital Hypothyroidism Due to Maternal Factor |
5 |
2584 |
c
|
ATS530 |
Autosomal Recessive Intellectual Developmental Disorder 34 |
5 |
2585 |
c
|
RRD014 |
Rare Adult Hypothyroidism |
4 |
2586 |
c
|
BPL001 |
Bipolar Ll Disorder |
4 |
2587 |
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
82 |
2588 |
|
LPT014 |
Leptin Deficiency or Dysfunction |
78 |
2589 |
P
|
PRS038 |
Personality Disorder |
63 |
2590 |
P
|
OST001 |
Osteopetrosis |
63 |
2591 |
P
|
CRN052 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
61 |
2592 |
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
2593 |
c
|
OST131 |
Osteopetrosis, Autosomal Dominant 2 |
58 |
2594 |
c
|
OST163 |
|