# |
Family |
MCID |
Name |
MIFTS |
1 |
P
|
FRN044 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 |
62 |
2 |
|
PHR003 |
Pharyngitis |
57 |
3 |
c
|
FRN059 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 |
51 |
4 |
c
|
FRN043 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 |
40 |
5 |
|
FRN051 |
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related |
59 |
6 |
c
|
AVS006 |
Avascular Necrosis of Femoral Head, Primary, 1 |
45 |
7 |
|
EPP010 |
Epiphysiolysis of the Hip |
30 |
8 |
|
LPN002 |
Lip and Oral Cavity Cancer |
60 |
9 |
c
|
ORF040 |
Orofaciodigital Syndrome Viii |
59 |
10 |
c
|
ORF037 |
Orofaciodigital Syndrome I |
64 |
11 |
c
|
ORF035 |
Orofaciodigital Syndrome Iv |
49 |
12 |
P
|
ORF001 |
Orofaciodigital Syndrome |
49 |
13 |
c
|
ORF005 |
Orofaciodigital Syndrome 12 |
13 |
14 |
c
|
EPL114 |
Epilepsy, Familial Temporal Lobe, 1 |
48 |
15 |
c
|
ORF033 |
Orofaciodigital Syndrome V |
47 |
16 |
c
|
ORF041 |
Orofaciodigital Syndrome X |
28 |
17 |
c
|
ORF043 |
Orofaciodigital Syndrome Ix |
38 |
18 |
|
MHR002 |
Mohr Syndrome |
37 |
19 |
|
TMR017 |
Tumoral Calcinosis, Normophosphatemic, Familial |
36 |
20 |
c
|
EPL115 |
Epilepsy, Familial Temporal Lobe, 2 |
40 |
21 |
c
|
ORF042 |
Orofaciodigital Syndrome Xi |
26 |
22 |
c
|
ORF034 |
Orofaciodigital Syndrome Vi |
56 |
23 |
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
52 |
24 |
P
|
FML048 |
Familial Avascular Necrosis of the Femoral Head |
26 |
25 |
c
|
ORF006 |
Orofaciodigital Syndrome 13 |
13 |
26 |
|
BRX001 |
Bruxism |
51 |
27 |
|
GRN060 |
Grn-Related Frontotemporal Lobar Degeneration |
43 |
28 |
|
CNT106 |
Centralopathic Epilepsy |
35 |
29 |
c
|
ORF052 |
Orofaciodigital Syndrome Xviii |
25 |
30 |
c
|
LRY009 |
Larynx Carcinoma in Situ |
10 |
31 |
|
MCR037 |
Macroglossia |
47 |
32 |
P
|
AMY106 |
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia |
45 |
33 |
c
|
ORF038 |
Orofaciodigital Syndrome Iii |
40 |
34 |
|
BNG009 |
Benign Epilepsy with Centrotemporal Spikes |
59 |
35 |
|
ORL013 |
Oral Lichen Planus |
41 |
36 |
|
EXT064 |
Extraoral Halitosis Due to Methanethiol Oxidase Deficiency |
19 |
37 |
|
PLN006 |
Poland Syndrome |
46 |
38 |
|
ORL012 |
Oral Leukoplakia |
32 |
39 |
c
|
EPL128 |
Epilepsy, Familial Temporal Lobe, 3 |
29 |
40 |
|
PRG122 |
Prognathism, Mandibular |
26 |
41 |
c
|
EPL113 |
Epilepsy, Familial Temporal Lobe, 4 |
24 |
42 |
|
LKP003 |
Leukoplakia |
41 |
43 |
|
MRC002 |
Marcus Gunn Phenomenon |
39 |
44 |
c
|
EPL150 |
Epilepsy, Familial Temporal Lobe, 7 |
37 |
45 |
|
LRY002 |
Laryngostenosis |
37 |
46 |
|
TMP002 |
Temporal Lobe Neoplasm |
31 |
47 |
|
SHP004 |
Shprintzen Omphalocele Syndrome |
24 |
48 |
|
FMR001 |
Femoral Vein Thrombophlebitis |
23 |
49 |
|
FMR013 |
Femoral Agenesis/hypoplasia |
21 |
50 |
c
|
FRN040 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 |
39 |
51 |
c
|
EPL081 |
Epilepsy, Familial Temporal Lobe, 5 |
32 |
52 |
c
|
EPL152 |
Epilepsy, Familial Temporal Lobe, 8 |
23 |
53 |
|
CTR154 |
Cataract, Aberrant Oral Frenula, and Growth Retardation |
19 |
54 |
|
CNG529 |
Congenital Femoral Deficiency |
19 |
55 |
P
|
CTR002 |
Cataract |
60 |
56 |
P
|
TMP001 |
Temporal Lobe Epilepsy |
49 |
57 |
c
|
CTR103 |
Cataract 4, Multiple Types |
47 |
58 |
c
|
CTR098 |
Cataract 1, Multiple Types |
47 |
59 |
c
|
CTR182 |
Cataract 23, Multiple Types |
44 |
60 |
c
|
CTR096 |
Cataract 6, Multiple Types |
44 |
61 |
c
|
CTR130 |
Cataract 9, Multiple Types |
43 |
62 |
c
|
CTR118 |
Cataract 14, Multiple Types |
40 |
63 |
c
|
CTR125 |
Cataract 7 |
39 |
64 |
c
|
CTR132 |
Cataract 3, Multiple Types |
39 |
65 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
66 |
c
|
CTR170 |
Cataract 30, Multiple Types |
39 |
67 |
c
|
CTR174 |
Cataract 40 |
38 |
68 |
c
|
CTR113 |
Cataract 11, Multiple Types |
38 |
69 |
c
|
CTR145 |
Cataract 44 |
37 |
70 |
c
|
CTR129 |
Cataract 31, Multiple Types |
36 |
71 |
c
|
CTR181 |
Cataract 18 |
35 |
72 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
73 |
c
|
CTR183 |
Cataract 38 |
34 |
74 |
c
|
CTR095 |
Cataract 8, Multiple Types |
34 |
75 |
c
|
CTR102 |
Cataract 2, Multiple Types |
33 |
76 |
c
|
CTR131 |
Cataract 17, Multiple Types |
32 |
77 |
c
|
CTR187 |
Cataract 48 |
32 |
78 |
c
|
CTR111 |
Cataract 36 |
32 |
79 |
c
|
CTR185 |
Cataract 30 |
32 |
80 |
c
|
CTR124 |
Cataract 10, Multiple Types |
31 |
81 |
c
|
CTR175 |
Cataract 24 |
30 |
82 |
c
|
CTR119 |
Cataract 32, Multiple Types |
30 |
83 |
c
|
CTR141 |
Cataract 21, Multiple Types |
29 |
84 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
85 |
c
|
CTR116 |
Cataract 15, Multiple Types |
26 |
86 |
c
|
CTR105 |
Cataract 12, Multiple Types |
26 |
87 |
c
|
CTR166 |
Cataract 33, Multiple Types |
26 |
88 |
c
|
CTR121 |
Cataract 25 |
26 |
89 |
c
|
CTR097 |
Cataract 34, Multiple Types |
26 |
90 |
c
|
CTR169 |
Cataract 29 |
24 |
91 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
92 |
c
|
CTR162 |
Cataract 47 |
23 |
93 |
c
|
CTR136 |
Cataract 41 |
23 |
94 |
c
|
CTR157 |
Cataract 28 |
23 |
95 |
c
|
CTR158 |
Cataract 37 |
23 |
96 |
|
ACR019 |
Acropectoral Syndrome |
23 |
97 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
98 |
c
|
CTR106 |
Cataract 20, Multiple Types |
22 |
99 |
c
|
CTR110 |
Cataract 26, Multiple Types |
22 |
100 |
c
|
CTR160 |
Cataract 45 |
21 |
101 |
c
|
CTR144 |
Cataract 43 |
21 |
102 |
c
|
CTR178 |
Cataract 27 |
21 |
103 |
c
|
CTR128 |
Cataract 33 |
20 |
104 |
c
|
CTR159 |
Cataract 35 |
20 |
105 |
c
|
CTR139 |
Cataract 42 |
20 |
106 |
c
|
CTR190 |
Cataract 49 |
18 |
107 |
|
LRY031 |
Larynx, Congenital Partial Atresia of |
15 |
108 |
|
TTH022 |
Teeth, Congenital Absence of, with Taurodontia and Sparse Hair |
12 |
109 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
5 |
110 |
|
FBL008 |
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly |
49 |
111 |
|
TMP019 |
Temporomandibular Joint Anomaly |
38 |
112 |
P
|
TMP003 |
Temporal Arteritis |
69 |
113 |
|
MRL006 |
Meralgia Paraesthetica, Familial |
29 |
114 |
c
|
JVN019 |
Juvenile Temporal Arteritis |
26 |
115 |
|
SPN349 |
Spondylometaphyseal Dysplasia, Type A4 |
23 |
116 |
|
LTT006 |
Littoral Cell Angioma of the Spleen |
20 |
117 |
|
BLC017 |
Black Hairy Tongue |
19 |
118 |
|
ORL024 |
Oral and Digital Anomalies with Ichthyosis |
16 |
119 |
|
TNS005 |
Tonsillitis |
55 |
120 |
|
ACR002 |
Acrocapitofemoral Dysplasia |
51 |
121 |
c
|
ORF036 |
Orofaciodigital Syndrome Xiv |
31 |
122 |
c
|
TTH013 |
Tooth Agenesis, Selective, 4 |
31 |
123 |
c
|
EPL124 |
Epilepsy, Familial Temporal Lobe, 6 |
28 |
124 |
c
|
TTH012 |
Tooth Agenesis, Selective, 3 |
24 |
125 |
c
|
TTH026 |
Tooth Agenesis, Selective, 7 |
19 |
126 |
|
MSL004 |
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis |
19 |
127 |
c
|
TTH027 |
Tooth Agenesis, Selective, 8 |
18 |
128 |
c
|
TTH025 |
Tooth Agenesis, Selective, 9 |
18 |
129 |
|
FCL077 |
Focal Epithelial Hyperplasia, Oral |
17 |
130 |
|
EPP019 |
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia |
14 |
131 |
|
KYP007 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
14 |
132 |
c
|
TTH011 |
Tooth Agenesis, Selective, 2 |
13 |
133 |
c
|
TTH017 |
Tooth Agenesis, Selective, 5 |
11 |
134 |
|
MLP007 |
Malposition of Teeth with or Without Hypodontia/oligodontia |
11 |
135 |
|
LRY014 |
Larynx Leiomyosarcoma |
11 |
136 |
|
LRY008 |
Larynx Liposarcoma |
9 |
137 |
c
|
PHR001 |
Pharynx Carcinoma in Situ |
6 |
138 |
|
WYR002 |
Weyers Acrofacial Dysostosis |
56 |
139 |
|
PTL009 |
Patella, Chondromalacia of |
36 |
140 |
|
TTH030 |
Teeth, Supernumerary |
33 |
141 |
|
TRD003 |
Taurodontism |
28 |
142 |
c
|
ORF046 |
Orofaciodigital Syndrome Xvi |
25 |
143 |
c
|
ORF045 |
Orofaciodigital Syndrome Xv |
24 |
144 |
|
LRY027 |
Laryngeal Papillomatosis |
22 |
145 |
|
HYP182 |
Hypertrichosis, Anterior Cervical |
21 |
146 |
|
PCH004 |
Pachygyria, Frontotemporal |
20 |
147 |
|
TTH029 |
Teeth Present at Birth |
20 |
148 |
|
SLP011 |
Slipped Femoral Capital Epiphyses |
19 |
149 |
c
|
AVS005 |
Avascular Necrosis of Femoral Head, Primary, 2 |
19 |
150 |
|
TTH031 |
Teeth, Fused |
18 |
151 |
|
SQM026 |
Squamous Cell Carcinoma of Oral Cavity and Lip |
5 |
152 |
|
IMP007 |
Impairment of Oral Perception |
4 |
153 |
P
|
TMR018 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
61 |
154 |
c
|
MYP072 |
Myopathy, Myofibrillar, 1 |
57 |
155 |
c
|
MYP078 |
Myopathy, Myofibrillar, 3 |
54 |
156 |
c
|
MYP079 |
Myopathy, Myofibrillar, 5 |
49 |
157 |
P
|
MYF003 |
Myofibrillar Myopathy |
48 |
158 |
c
|
MYP081 |
Myopathy, Myofibrillar, 6 |
46 |
159 |
|
MLK003 |
Melkersson-Rosenthal Syndrome |
46 |
160 |
c
|
MYP082 |
Myopathy, Myofibrillar, 2 |
45 |
161 |
c
|
MYP080 |
Myopathy, Myofibrillar, 4 |
45 |
162 |
|
ACT209 |
Acatalasemia |
45 |
163 |
|
ORM002 |
Oromandibular Dystonia |
45 |
164 |
|
SQM002 |
Squamous Cell Papilloma |
38 |
165 |
c
|
MYP119 |
Myopathy, Myofibrillar, 7 |
35 |
166 |
|
HYP679 |
Hypoglossia-Hypodactylia |
34 |
167 |
c
|
MYP118 |
Myopathy, Myofibrillar, 8 |
34 |
168 |
|
DVL122 |
Developmental Delay, Impaired Speech, and Behavioral Abnormalities |
29 |
169 |
|
MTP023 |
Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly |
29 |
170 |
|
ACH006 |
Achard Syndrome |
28 |
171 |
c
|
TMR020 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
27 |
172 |
c
|
TMR019 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
26 |
173 |
|
DYS096 |
Dyskeratosis, Hereditary Benign Intraepithelial |
26 |
174 |
c
|
ORF051 |
Orofaciodigital Syndrome Xvii |
25 |
175 |
|
NRD104 |
Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities |
23 |
176 |
|
INT368 |
Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities |
23 |
177 |
c
|
MYF011 |
Myofibrillar Myopathy 10 |
23 |
178 |
c
|
MYF012 |
Myofibrillar Myopathy 11 |
22 |
179 |
|
GLB029 |
Global Developmental Delay with Speech and Behavioral Abnormalities |
22 |
180 |
|
INT390 |
Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies |
18 |
181 |
|
BLS009 |
Blistering, Acantholytic, of Oral and Laryngeal Mucosa |
16 |
182 |
|
SCR015 |
Scarlet Fever |
43 |
183 |
|
FRN020 |
Frontal Fibrosing Alopecia |
42 |
184 |
|
JWD001 |
Jawad Syndrome |
40 |
185 |
|
PTL002 |
Patellofemoral Pain Syndrome |
35 |
186 |
c
|
INC033 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 |
30 |
187 |
|
SPR108 |
Suprabulbar Paresis, Congenital |
30 |
188 |
|
PRR019 |
Perioral Myoclonia with Absences |
28 |
189 |
|
CHN019 |
Chand Syndrome |
28 |
190 |
|
EXT009 |
Extratemporal Epilepsy |
21 |
191 |
c
|
ORF039 |
Orofaciodigital Syndrome Vii |
21 |
192 |
|
ACR037 |
Acromegaloid Facial Appearance Syndrome |
20 |
193 |
|
HMR045 |
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency |
19 |
194 |
|
DVL138 |
Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or Without Seizures |
18 |
195 |
|
ORM001 |
Oro-Mandibular-Limb Hypogenesis Syndrome |
16 |
196 |
|
PHR008 |
Pharynx Squamous Cell Carcinoma |
14 |
197 |
c
|
ORF054 |
Orofaciodigital Syndrome Xix |
13 |
198 |
|
INF141 |
Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression |
7 |
199 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
65 |
200 |
|
PLM031 |
Poliomyelitis |
63 |
201 |
P
|
DST002 |
Distal Arthrogryposis |
61 |
202 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
60 |
203 |
c
|
ART120 |
Arthrogryposis, Distal, Type 3 |
55 |
204 |
|
ANS012 |
Anus Disease |
53 |
205 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
53 |
206 |
|
HMH004 |
Hemihyperplasia, Isolated |
52 |
207 |
|
CLC017 |
Calcification of Joints and Arteries |
52 |
208 |
P
|
TCD001 |
Tic Disorder |
52 |
209 |
c
|
ART155 |
Arthrogryposis, Distal, Type 2b1 |
50 |
210 |
|
PRG033 |
Progressive Non-Fluent Aphasia |
48 |
211 |
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
48 |
212 |
|
NSP002 |
Nasopharyngitis |
46 |
213 |
c
|
CHR056 |
Chronic Tic Disorder |
44 |
214 |
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
43 |
215 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
41 |
216 |
|
ALV001 |
Alveolar Periostitis |
40 |
217 |
|
CLF053 |
Cleft Palate with or Without Ankyloglossia, X-Linked |
40 |
218 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
37 |
219 |
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
37 |
220 |
|
RHN002 |
Rhinoscleroma |
36 |
221 |
c
|
CHR057 |
Chronic Laryngitis |
35 |
222 |
c
|
ART168 |
Arthrogryposis, Distal, Type 1c |
35 |
223 |
c
|
AMY079 |
Amyotrophic Lateral Sclerosis Type 15 |
33 |
224 |
|
SKR001 |
Skraban-Deardorff Syndrome |
33 |
225 |
c
|
ACT072 |
Acute Laryngitis |
32 |
226 |
c
|
ART060 |
Arthrogryposis, Distal, Type 1b |
30 |
227 |
c
|
CFF013 |
Coffin-Siris Syndrome 8 |
29 |
228 |
c
|
ART128 |
Arthrogryposis, Distal, Type 6 |
27 |
229 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
27 |
230 |
c
|
VRL001 |
Viral Laryngitis |
26 |
231 |
|
PRQ002 |
Paraquat Poisoning |
24 |
232 |
c
|
TRN005 |
Transient Tic Disorder |
24 |
233 |
|
LRY006 |
Larynx Squamous Papilloma |
23 |
234 |
c
|
ANG072 |
Angioedema, Hereditary, 4 |
23 |
235 |
|
SPN356 |
Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia |
22 |
236 |
|
ORL022 |
Oral Erosive Lichen |
22 |
237 |
|
VLV046 |
Vulvovaginal Gingival Syndrome |
21 |
238 |
c
|
ART175 |
Arthrogryposis, Distal, Type 11 |
19 |
239 |
c
|
ART054 |
Arthrogryposis, Distal, Type 2e |
18 |
240 |
|
PRL048 |
Proliferative Verrucous Leukoplakia |
17 |
241 |
|
TRC064 |
Trochlear Dysplasia |
16 |
242 |
|
AND017 |
Anodontia of Permanent Dentition |
14 |
243 |
|
FCL075 |
Focal Epithelial Hyperplasia of the Oral Mucosa |
10 |
244 |
|
C9R003 |
C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis |
10 |
245 |
|
IMP016 |
Impacted Teeth, Multiple |
9 |
246 |
|
TTH028 |
Teeth, Odd Shapes of |
8 |
247 |
|
ORL026 |
Oral Sensibility, Disturbance of |
8 |
248 |
|
CRB173 |
Carabelli Anomaly of Maxillary Molar Teeth |
8 |
249 |
|
MLC005 |
Malocclusion Due to Protuberant Upper Front Teeth |
7 |
250 |
|
LRY001 |
Larynx Leiomyoma |
6 |
251 |
|
FRS005 |
Fraser Jequier Chen Syndrome |
6 |
252 |
|
CNN014 |
Canine Teeth, Absence of Upper Permanent |
6 |
253 |
|
SNS025 |
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth |
5 |
254 |
|
NRX002 |
Neuroaxonal Dystrophy Renal Tubular Acidosis |
5 |
255 |
|
BRN146 |
Branchial Arch or Oral-Acral Syndrome |
3 |
256 |
|
FRN053 |
Frontotemporal Neurodegeneration with Movement Disorder |
3 |
257 |
|
GNT109 |
Genetic Frontotemporal Degeneration with Dementia |
3 |
258 |
|
GNT065 |
Genetic Branchial Arch or Oral-Acral Syndrome |
2 |
259 |
|
GNT156 |
Genetic Larynx Anomaly |
2 |
260 |
|
CRB068 |
Cerebral Calcifications Opalescent Teeth Phosphaturia |
1 |
261 |
c
|
HRD002 |
Hereditary Angioedema |
66 |
262 |
P
|
PRD008 |
Periodontitis |
61 |
263 |
c
|
ANG070 |
Angioedema, Hereditary, 1 |
59 |
264 |
c
|
EHL073 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
59 |
265 |
|
GNG013 |
Gingivitis |
58 |
266 |
|
MTH009 |
Mouth Disease |
56 |
267 |
P
|
CLS054 |
Classic Ehlers-Danlos Syndrome |
56 |
268 |
P
|
ANG015 |
Angioedema |
55 |
269 |
P
|
HDC001 |
Headache |
54 |
270 |
|
ESP023 |
Esophageal Disease |
53 |
271 |
|
STM007 |
Stomatitis |
51 |
272 |
c
|
PRD040 |
Periodontitis, Chronic |
51 |
273 |
|
GNG003 |
Gingival Recession |
51 |
274 |
c
|
FBR084 |
Fibromatosis, Gingival, 1 |
49 |
275 |
|
SLT005 |
Solitary Median Maxillary Central Incisor |
49 |
276 |
|
TRP006 |
Tarp Syndrome |
49 |
277 |
|
CHL056 |
Cheilitis |
47 |
278 |
|
DNT006 |
Dental Pulp Necrosis |
46 |
279 |
c
|
EHL074 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
46 |
280 |
|
HRP001 |
Herpangina |
44 |
281 |
P
|
PRD037 |
Periodontal Ehlers-Danlos Syndrome |
44 |
282 |
|
RTR008 |
Root Resorption |
43 |
283 |
|
CLF028 |
Cleft Soft Palate |
43 |
284 |
|
SPP003 |
Suppurative Periapical Periodontitis |
42 |
285 |
|
DNT014 |
Dental Pulp Disease |
42 |
286 |
P
|
GNG025 |
Gingival Fibromatosis |
41 |
287 |
c
|
EHL071 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
40 |
288 |
c
|
ACQ012 |
Acquired Angioedema |
40 |
289 |
P
|
PRT026 |
Parotitis |
40 |
290 |
|
PRP002 |
Periapical Granuloma |
40 |
291 |
c
|
CFF011 |
Coffin-Siris Syndrome 6 |
39 |
292 |
c
|
CHR013 |
Chronic Apical Periodontitis |
39 |
293 |
|
ACT062 |
Acute Pericementitis |
39 |
294 |
|
TTH008 |
Tooth Resorption |
38 |
295 |
|
ODN009 |
Odontoonychodermal Dysplasia |
37 |
296 |
|
ANG061 |
Angular Cheilitis |
36 |
297 |
c
|
AML017 |
Amelogenesis Imperfecta, Type Ib |
36 |
298 |
|
DNT008 |
Denture Stomatitis |
35 |
299 |
|
ACT018 |
Acute Laryngopharyngitis |
34 |
300 |
P
|
DNT007 |
Dentin Sensitivity |
34 |
301 |
|
LTT002 |
Letterer-Siwe Disease |
34 |
302 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
34 |
303 |
|
GNG006 |
Gingival Hypertrophy |
34 |
304 |
|
DNT010 |
Dentin Caries |
34 |
305 |
|
DNT046 |
Dental Abscess |
33 |
306 |
|
AML014 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
33 |
307 |
|
HYP021 |
Hypercementosis |
33 |
308 |
c
|
AML018 |
Amelogenesis Imperfecta, Type Ic |
32 |
309 |
|
AML015 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
32 |
310 |
|
TTH007 |
Tooth Erosion |
31 |
311 |
|
RTC003 |
Root Caries |
31 |
312 |
|
DNT003 |
Dental Pulp Calcification |
31 |
313 |
|
UVL009 |
Uvula, Bifid |
30 |
314 |
c
|
EHL089 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
30 |
315 |
|
AML062 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
30 |
316 |
P
|
EPL003 |
Epulis |
29 |
317 |
|
PRT031 |
Parotid Disease |
28 |
318 |
|
NCR003 |
Necrotizing Sialometaplasia |
27 |
319 |
|
ENM001 |
Enamel Caries |
27 |
320 |
c
|
KHL004 |
Kohlschutter-Tonz Syndrome-Like |
27 |
321 |
c
|
HYP515 |
Hypotrichosis 3 |
27 |
322 |
|
LGP003 |
Logopenic Progressive Aphasia |
26 |
323 |
c
|
FBR079 |
Fibromatosis, Gingival, 2 |
26 |
324 |
|
ENM002 |
Enamel Erosion |
26 |
325 |
|
AML011 |
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 |
25 |
326 |
|
BRN129 |
Branchial Cleft Anomalies |
25 |
327 |
|
RCH011 |
Rauch-Steindl Syndrome |
25 |
328 |
|
TBS009 |
Teebi-Shaltout Syndrome |
25 |
329 |
|
MDN001 |
Median Rhomboid Glossitis |
24 |
330 |
|
AML005 |
Amelogenesis Imperfecta Hypomaturation Type |
23 |
331 |
|
VNZ001 |
Venezuelan Hemorrhagic Fever |
23 |
332 |
|
OCL071 |
Oculocerebral Hypopigmentation Syndrome of Preus |
23 |
333 |
|
LSS043 |
Lessel-Kreienkamp Syndrome |
23 |
334 |
c
|
EXT020 |
External Pathological Resorption |
22 |
335 |
c
|
AML048 |
Amelogenesis Imperfecta, Type Ih |
22 |
336 |
|
CHR584 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb |
21 |
337 |
c
|
FBR092 |
Fibromatosis, Gingival, 5 |
21 |
338 |
|
RHZ012 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
21 |
339 |
|
KRT063 |
Keratocystic Odontogenic Tumor |
20 |
340 |
|
INC023 |
Incisors, Fused Mandibular |
20 |
341 |
c
|
ANG073 |
Angioedema, Hereditary, 5 |
20 |
342 |
c
|
ANG074 |
Angioedema, Hereditary, 6 |
20 |
343 |
|
DNT002 |
Dentine Erosion |
19 |
344 |
|
MRB007 |
Marbach-Rustad Progeroid Syndrome |
19 |
345 |
c
|
ANG076 |
Angioedema, Hereditary, 8 |
19 |
346 |
|
EPL162 |
Epilepsy-Telangiectasia |
18 |
347 |
c
|
USM002 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
17 |
348 |
c
|
AML056 |
Amelogenesis Imperfecta, Type Iiib |
17 |
349 |
c
|
FBR077 |
Fibromatosis, Gingival, 3 |
17 |
350 |
|
RCN002 |
Ricin Poisoning |
17 |
351 |
c
|
FBR080 |
Fibromatosis, Gingival, 4 |
16 |
352 |
c
|
ACQ036 |
Acquired Angioedema Type 2 |
14 |
353 |
c
|
TNX002 |
Tnxb-Related Classical-Like Ehlers-Danlos Syndrome |
14 |
354 |
c
|
RRH030 |
Rare Headache |
13 |
355 |
|
THR083 |
Third Branchial Cleft Anomaly |
13 |
356 |
c
|
AML067 |
Amelogenesis Imperfecta, Type Ik |
13 |
357 |
|
HYP879 |
Hypoplastic Femurs and Pelvis |
13 |
358 |
c
|
SSC054 |
Susceptibility to Localized Juvenile Periodontitis |
10 |
359 |
c
|
LRY050 |
Laryngotracheoesophageal Cleft Type 2 |
8 |
360 |
c
|
ACQ035 |
Acquired Angioedema Type 1 |
8 |
361 |
c
|
LRY048 |
Laryngotracheoesophageal Cleft Type 0 |
7 |
362 |
c
|
HRD211 |
Hereditary Dentin Defect |
6 |
363 |
c
|
PRT125 |
Parotitis, Juvenile Recurrent |
6 |
364 |
|
PNN004 |
Pinnae Fistula or Cyst |
5 |
365 |
P
|
INT045 |
Internal Pathological Resorption |
3 |
366 |
|
MLF003 |
Malformative Syndrome with Dentinogenesis Imperfecta |
3 |
367 |
|
PLP003 |
Pulp Erosion |
3 |
368 |
P
|
FRN006 |
Frontotemporal Dementia |
72 |
369 |
P
|
LRY044 |
Larynx Cancer |
55 |
370 |
|
JWC001 |
Jaw Cancer |
23 |
371 |
|
LGG001 |
Legg-Calve-Perthes Disease |
59 |
372 |
c
|
FRN060 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6 |
33 |
373 |
|
ECT073 |
Ectodermal Dysplasia/short Stature Syndrome |
24 |
374 |
c
|
FRN045 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 |
42 |
375 |
|
FMR003 |
Femoral Neuropathy |
37 |
376 |
|
LRY013 |
Laryngeal Neuroendocrine Tumor |
32 |
377 |
|
GNT026 |
Gnathodiaphyseal Dysplasia |
49 |
378 |
c
|
AMY104 |
Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia |
24 |
379 |
c
|
AMY099 |
Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia |
18 |
380 |
|
LRY018 |
Laryngeal Squamous Cell Carcinoma |
51 |
381 |
|
LRY015 |
Laryngeal Benign Neoplasm |
46 |
382 |
|
ATS301 |
Autosomal Dominant Epilepsy with Auditory Features |
38 |
383 |
c
|
AMY105 |
Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia |
32 |
384 |
|
FMR002 |
Femoral Cancer |
29 |
385 |
|
CLT001 |
Clitoris Cancer |
13 |
386 |
c
|
PCH015 |
Pachyonychia Congenita 1 |
62 |
387 |
c
|
AMY114 |
Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia |
20 |
388 |
|
CMB022 |
Combined Cellular and Humoral Immune Defects with Granulomas |
42 |
389 |
|
FRN030 |
Frontotemporal Dementia with Parkinsonism-17 |
28 |
390 |
|
INT402 |
Intellectual Developmental Disorder, Autosomal Dominant 50, with Behavioral Abnormalities |
25 |
391 |
|
LRY020 |
Larynx Sarcoma |
18 |
392 |
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
87 |
393 |
|
OST044 |
Osteoglophonic Dysplasia |
55 |
394 |
c
|
AMY045 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
51 |
395 |
|
ORP003 |
Oropharynx Cancer |
50 |
396 |
c
|
AMY069 |
Amyotrophic Lateral Sclerosis 21 |
47 |
397 |
c
|
AMY090 |
Amyotrophic Lateral Sclerosis 8 |
46 |
398 |
c
|
AMY058 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
44 |
399 |
c
|
AMY083 |
Amyotrophic Lateral Sclerosis 11 |
42 |
400 |
c
|
AMY057 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
41 |
401 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
41 |
402 |
c
|
AMY088 |
Amyotrophic Lateral Sclerosis 3 |
38 |
403 |
c
|
AMY059 |
Amyotrophic Lateral Sclerosis 19 |
37 |
404 |
c
|
AMY067 |
Amyotrophic Lateral Sclerosis 18 |
37 |
405 |
|
SPR021 |
Supraglottis Cancer |
34 |
406 |
c
|
AMY085 |
Amyotrophic Lateral Sclerosis 9 |
33 |
407 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
33 |
408 |
c
|
AMY094 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
32 |
409 |
c
|
AMY081 |
Amyotrophic Lateral Sclerosis Type 12 |
32 |
410 |
c
|
AMY063 |
Amyotrophic Lateral Sclerosis 20 |
32 |
411 |
|
INT328 |
Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities |
29 |
412 |
c
|
AMY074 |
Amyotrophic Lateral Sclerosis Type 14 |
26 |
413 |
|
LRY011 |
Larynx Verrucous Carcinoma |
24 |
414 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
24 |
415 |
c
|
AMY110 |
Amyotrophic Lateral Sclerosis 24 |
23 |
416 |
c
|
AMY108 |
Amyotrophic Lateral Sclerosis 23 |
22 |
417 |
c
|
AMY112 |
Amyotrophic Lateral Sclerosis 25 |
20 |
418 |
|
CLF036 |
Cleft Tongue |
16 |
419 |
|
OST154 |
Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures |
12 |
420 |
|
CHM008 |
Chmp2b Frontotemporal Dementia |
11 |
421 |
|
STR008 |
Strongyloidiasis |
52 |
422 |
|
IRN004 |
Iron-Refractory Iron Deficiency Anemia |
45 |
423 |
|
HFN001 |
Hao-Fountain Syndrome |
33 |
424 |
c
|
AMY113 |
Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia |
31 |
425 |
|
CLF048 |
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features |
29 |
426 |
|
KRT066 |
Keratosis, Focal Palmoplantar and Gingival |
25 |
427 |
|
NRD086 |
Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia |
25 |
428 |
|
DVL125 |
Developmental Delay with or Without Intellectual Impairment or Behavioral Abnormalities |
24 |
429 |
|
FCL067 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
23 |
430 |
|
INT374 |
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures |
23 |
431 |
|
TLC002 |
Tolchin-Le Caignec Syndrome |
22 |
432 |
c
|
FRN062 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5 |
21 |
433 |
|
NRD130 |
Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities |
21 |
434 |
c
|
FRN061 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 |
21 |
435 |
c
|
MSC170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
69 |
436 |
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
58 |
437 |
|
RBF001 |
Riboflavin Deficiency |
58 |
438 |
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
56 |
439 |
P
|
FBR031 |
Febrile Seizures |
52 |
440 |
c
|
MSC176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
50 |
441 |
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
49 |
442 |
c
|
MSC173 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
48 |
443 |
c
|
MSC178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
47 |
444 |
c
|
ATS298 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
46 |
445 |
c
|
MSC172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
46 |
446 |
c
|
FBR070 |
Febrile Seizures, Familial, 8 |
45 |
447 |
|
MLD006 |
Mal De Meleda |
45 |
448 |
c
|
ATS207 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
45 |
449 |
c
|
MSC174 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
44 |
450 |
c
|
MSC177 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
43 |
451 |
c
|
ATS246 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
43 |
452 |
c
|
MSC171 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
43 |
453 |
c
|
ATS277 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
43 |
454 |
|
OST115 |
Osteonecrosis of the Jaw |
42 |
455 |
c
|
ATS331 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
42 |
456 |
P
|
RCR004 |
Recurrent Respiratory Papillomatosis |
42 |
457 |
c
|
ATS217 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
42 |
458 |
c
|
MSC179 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
41 |
459 |
c
|
MSC180 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
41 |
460 |
c
|
ATS297 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
40 |
461 |
c
|
MSC183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
39 |
462 |
c
|
MSC181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
38 |
463 |
c
|
FBR072 |
Febrile Seizures, Familial, 11 |
38 |
464 |
c
|
FBR069 |
Febrile Seizures, Familial, 4 |
37 |
465 |
c
|
MSC184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
37 |
466 |
c
|
ATS299 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
36 |
467 |
c
|
ATS211 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
36 |
468 |
c
|
MSC189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
34 |
469 |
P
|
BNT007 |
Bent Bone Dysplasia Syndrome 1 |
34 |
470 |
c
|
LMB073 |
Limb-Girdle Muscular Dystrophy Type 1a |
34 |
471 |
c
|
FML350 |
Familial Febrile Seizures |
32 |
472 |
c
|
FBR073 |
Febrile Seizures, Familial, 1 |
32 |
473 |
c
|
ATS280 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
31 |
474 |
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
31 |
475 |
c
|
MSC058 |
Muscular Dystrophy, Limb-Girdle, Type 1h |
30 |
476 |
c
|
FBR074 |
Febrile Seizures, Familial, 6 |
29 |
477 |
|
MXL017 |
Maxillary Cancer |
29 |
478 |
c
|
MSC191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
29 |
479 |
c
|
MSC187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
27 |
480 |
c
|
FBR071 |
Febrile Seizures, Familial, 5 |
27 |
481 |
c
|
ATS333 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
27 |
482 |
c
|
FBR067 |
Febrile Seizures, Familial, 9 |
26 |
483 |
|
INT366 |
Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities |
26 |
484 |
c
|
LMB074 |
Limb-Girdle Muscular Dystrophy Type 1b |
25 |
485 |
c
|
ATS332 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
24 |
486 |
|
MND001 |
Mandibular Cancer |
24 |
487 |
c
|
MSC186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
23 |
488 |
|
NRD147 |
Neurodevelopmental Disorder with or Without Variable Movement or Behavioral Abnormalities |
23 |
489 |
c
|
MSC202 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
22 |
490 |
c
|
FBR076 |
Febrile Seizures, Familial, 7 |
22 |
491 |
c
|
MSC199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
20 |
492 |
c
|
ATS354 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
20 |
493 |
c
|
FBR068 |
Febrile Seizures, Familial, 10 |
19 |
494 |
c
|
INC035 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 |
18 |
495 |
c
|
BNT008 |
Bent Bone Dysplasia Syndrome 2 |
17 |
496 |
c
|
PMG002 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
14 |
497 |
|
BNG066 |
Benign Familial Mesial Temporal Lobe Epilepsy |
8 |
498 |
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
64 |
499 |
P
|
HYP035 |
Hypophosphatasia |
62 |
500 |
|
ANG005 |
Anogenital Venereal Wart |
56 |
501 |
c
|
LYM145 |
Lymphatic Malformation 5 |
52 |
502 |
|
HMF009 |
Hemifacial Hyperplasia |
51 |
503 |
c
|
LYM144 |
Lymphatic Malformation 1 |
48 |
504 |
c
|
ATS279 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
46 |
505 |
P
|
ECT045 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
43 |
506 |
c
|
CFF009 |
Coffin-Siris Syndrome 4 |
43 |
507 |
P
|
OTT001 |
Otitis Externa |
42 |
508 |
c
|
LYM161 |
Lymphatic Malformation 12 |
42 |
509 |
|
BCL002 |
B Cell Deficiency |
42 |
510 |
|
GNT001 |
Giant Cell Reparative Granuloma |
41 |
511 |
P
|
DYS215 |
Dyskinesia with Orofacial Involvement, Autosomal Dominant |
38 |
512 |
|
EPP011 |
Epiphyseal Chondrodysplasia, Miura Type |
38 |
513 |
c
|
CFF007 |
Coffin-Siris Syndrome 2 |
38 |
514 |
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
38 |
515 |
c
|
AMY023 |
Amyotrophic Lateral Sclerosis Type 6 |
37 |
516 |
c
|
DVL050 |
Developmental and Epileptic Encephalopathy 24 |
37 |
517 |
|
SYD002 |
Sydenham Chorea |
36 |
518 |
|
GBR007 |
Gabriele-De Vries Syndrome |
36 |
519 |
c
|
LYM150 |
Lymphatic Malformation 7 |
34 |
520 |
c
|
RNG029 |
Ring Chromosome 14 Syndrome |
34 |
521 |
c
|
LYM149 |
Lymphatic Malformation 6 |
34 |
522 |
c
|
ECT041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
33 |
523 |
c
|
RNG008 |
Ring Chromosome 13 |
33 |
524 |
c
|
CFF014 |
Coffin-Siris Syndrome 9 |
33 |
525 |
c
|
RNG023 |
Ring Chromosome 7 |
33 |
526 |
c
|
RNG018 |
Ring Chromosome 22 |
32 |
527 |
P
|
RRL003 |
Rare Lymphatic Malformation |
31 |
528 |
c
|
RNG017 |
Ring Chromosome 21 |
31 |
529 |
c
|
RNG004 |
Ring Chromosome 1 |
30 |
530 |
c
|
CFF017 |
Coffin-Siris Syndrome 12 |
29 |
531 |
c
|
RNG022 |
Ring Chromosome 6 |
29 |
532 |
c
|
RNG007 |
Ring Chromosome 12 |
29 |
533 |
c
|
RNG020 |
Ring Chromosome 4 |
28 |
534 |
c
|
MLG042 |
Malignant Otitis Externa |
28 |
535 |
|
FXC001 |
Foix Chavany Marie Syndrome |
28 |
536 |
c
|
RNG024 |
Ring Chromosome 8 |
28 |
537 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
538 |
|
LRY005 |
Laryngeal Small Cell Carcinoma |
27 |
539 |
P
|
RNG032 |
Ring Chromosome |
27 |
540 |
c
|
RNG013 |
Ring Chromosome 18 |
26 |
541 |
c
|
CFF006 |
Coffin-Siris Syndrome 5 |
26 |
542 |
c
|
RNG010 |
Ring Chromosome 15 |
25 |
543 |
c
|
RNG016 |
Ring Chromosome 20 |
25 |
544 |
c
|
LYM147 |
Lymphatic Malformation 3 |
24 |
545 |
c
|
RNG006 |
Ring Chromosome 11 |
24 |
546 |
c
|
LYM148 |
Lymphatic Malformation 4 |
24 |
547 |
c
|
DYS217 |
Dyskinesia with Orofacial Involvement, Autosomal Recessive |
24 |
548 |
c
|
RNG015 |
Ring Chromosome 2 |
23 |
549 |
c
|
AMY109 |
Amyotrophic Lateral Sclerosis Type 22 |
23 |
550 |
c
|
CFF016 |
Coffin-Siris Syndrome 11 |
23 |
551 |
c
|
RNG019 |
Ring Chromosome 3 |
23 |
552 |
c
|
RNG025 |
Ring Chromosome 9 |
22 |
553 |
c
|
RNG021 |
Ring Chromosome 5 |
22 |
554 |
|
LRY010 |
Laryngeal Adenoid Cystic Carcinoma |
22 |
555 |
c
|
RNG012 |
Ring Chromosome 17 |
22 |
556 |
c
|
LYM155 |
Lymphatic Malformation 8 |
21 |
557 |
c
|
LYM159 |
Lymphatic Malformation 10 |
21 |
558 |
c
|
RNG011 |
Ring Chromosome 16 |
19 |
559 |
c
|
RNG014 |
Ring Chromosome 19 |
19 |
560 |
|
BND017 |
Bone Dysplasia, Lethal, Holmgren Type |
19 |
561 |
c
|
LYM158 |
Lymphatic Malformation 9 |
19 |
562 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
18 |
563 |
c
|
LYM160 |
Lymphatic Malformation 11 |
17 |
564 |
|
GRN059 |
Grn Frontotemporal Dementia |
17 |
565 |
c
|
LYM146 |
Lymphatic Malformation 2 |
16 |
566 |
c
|
MPT002 |
Mapt-Related Frontotemporal Dementia |
11 |
567 |
|
GGR002 |
Geographic and Fissured Tongue |
11 |
568 |
|
TNG011 |
Tongue, Pigmented Fungiform Papillae of |
10 |
569 |
|
TNG010 |
Tongue Curling, Folding, or Rolling |
10 |
570 |
|
EPP023 |
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness |
9 |
571 |
|
FLL049 |
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts |
5 |
572 |
|
FRN054 |
Frontotemporal Degeneration with Dementia |
5 |
573 |
|
PTT067 |
Pituitary Hormone Deficiency of Tumoral Origin |
4 |
574 |
|
NRB018 |
Neurobehavioral Disorder with Prenatal Alcohol Exposure |
3 |
575 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
576 |
c
|
DYS056 |
Dystonia 12 |
67 |
577 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
578 |
|
GLS018 |
Glass Syndrome |
66 |
579 |
P
|
DYS154 |
Dystonia |
66 |
580 |
|
CLF027 |
Cleft Palate, Isolated |
63 |
581 |
|
RHM001 |
Rheumatic Fever |
62 |
582 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
61 |
583 |
c
|
PRD039 |
Periodontitis, Aggressive, 1 |
59 |
584 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
59 |
585 |
P
|
STC001 |
Stickler Syndrome |
58 |
586 |
|
GNG011 |
Gingival Disease |
58 |
587 |
c
|
STC015 |
Stickler Syndrome, Type I |
57 |
588 |
P
|
AGG001 |
Aggressive Periodontitis |
57 |
589 |
P
|
JNC001 |
Junctional Epidermolysis Bullosa |
57 |
590 |
P
|
ATS011 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
56 |
591 |
|
KBG001 |
Kbg Syndrome |
55 |
592 |
P
|
MMP001 |
Mumps |
55 |
593 |
|
CLF001 |
Cleft Lip |
55 |
594 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
55 |
595 |
c
|
EPD115 |
Epidermolysis Bullosa, Junctional 1b, Severe |
54 |
596 |
c
|
HYP292 |
Hypophosphatasia, Infantile |
53 |
597 |
P
|
LRY019 |
Laryngitis |
52 |
598 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
52 |
599 |
c
|
EPD114 |
Epidermolysis Bullosa, Junctional 1a, Intermediate |
51 |
600 |
|
GNG012 |
Gingival Overgrowth |
51 |
601 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
51 |
602 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
50 |
603 |
|
PRP017 |
Periapical Periodontitis |
50 |
604 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
50 |
605 |
c
|
HRD227 |
Hereditary Spastic Paraplegia 35 |
50 |
606 |
|
PLP001 |
Pulpitis |
50 |
607 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
49 |
608 |
|
ADJ001 |
Adjustment Disorder |
48 |
609 |
|
HYP596 |
Hypophosphatasia, Childhood |
48 |
610 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
48 |
611 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
47 |
612 |
|
TTH006 |
Tooth Disease |
47 |
613 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
47 |
614 |
|
CRB147 |
Cerebellofaciodental Syndrome |
47 |
615 |
P
|
EPD094 |
Epidermolysis Bullosa Simplex 1a, Generalized Severe |
47 |
616 |
c
|
DYS059 |
Dystonia 16 |
46 |
617 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
46 |
618 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
46 |
619 |
|
CRP002 |
Croup |
46 |
620 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
45 |
621 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
45 |
622 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
45 |
623 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
45 |
624 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
45 |
625 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
44 |
626 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
627 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
44 |
628 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
44 |
629 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
44 |
630 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
43 |
631 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
43 |
632 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
43 |
633 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
43 |
634 |
P
|
BRC015 |
Bruck Syndrome |
43 |
635 |
c
|
DYS119 |
Dystonia 9 |
43 |
636 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
42 |
637 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
42 |
638 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
42 |
639 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
42 |
640 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
42 |
641 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
42 |
642 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
41 |
643 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
41 |
644 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
41 |
645 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
41 |
646 |
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
41 |
647 |
c
|
PCH010 |
Pachyonychia Congenita 3 |
41 |
648 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
41 |
649 |
|
PRC001 |
Pericoronitis |
40 |
650 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
40 |
651 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
40 |
652 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
39 |
653 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
39 |
654 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
39 |
655 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
39 |
656 |
c
|
DVL052 |
Developmental and Epileptic Encephalopathy 26 |
39 |
657 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
39 |
658 |
|
SLL001 |
Sialolithiasis |
38 |
659 |
c
|
EPD096 |
Epidermolysis Bullosa Simplex 1b, Generalized Intermediate |
38 |
660 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
661 |
c
|
DYS172 |
Dystonia 27 |
38 |
662 |
c
|
SPS238 |
Spastic Paraplegia 81, Autosomal Recessive |
37 |
663 |
c
|
DYS151 |
Dystonia 25 |
37 |
664 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
37 |
665 |
|
NCR001 |
Necrotizing Ulcerative Gingivitis |
37 |
666 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
37 |
667 |
|
HMM004 |
Hamamy Syndrome |
36 |
668 |
c
|
DYS146 |
Dystonia 24 |
36 |
669 |
P
|
ENC056 |
Encephalopathy, Acute, Infection-Induced 4 |
36 |
670 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
36 |
671 |
c
|
EPD113 |
Epidermolysis Bullosa Simplex Generalized Type |
36 |
672 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
36 |
673 |
c
|
AML047 |
Amelogenesis Imperfecta, Type Ia |
36 |
674 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
36 |
675 |
|
HMM002 |
Haim-Munk Syndrome |
36 |
676 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
35 |
677 |
c
|
DYS162 |
Dystonia, Juvenile-Onset |
35 |
678 |
|
VTM010 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 |
35 |
679 |
c
|
HRD229 |
Hereditary Spastic Paraplegia 56 |
35 |
680 |
c
|
SPS092 |
Spastic Paraplegia 11 |
35 |
681 |
|
ULC007 |
Ulcerative Stomatitis |
34 |
682 |
c
|
ATS076 |
Autosomal Recessive Stickler Syndrome |
34 |
683 |
|
LRY026 |
Laryngeal Cleft |
34 |
684 |
P
|
SPS012 |
Spastic Paraplegia 3a |
34 |
685 |
c
|
DYS145 |
Dystonia 23 |
33 |
686 |
c
|
HRD226 |
Hereditary Spastic Paraplegia 49 |
33 |
687 |
c
|
EPL073 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
33 |
688 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
33 |
689 |
c
|
EPL096 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
33 |
690 |
c
|
BRC047 |
Bruck Syndrome 1 |
33 |
691 |
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
33 |
692 |
c
|
SPS025 |
Spastic Paraplegia 15 |
32 |
693 |
|
GRN005 |
Granuloma Inguinale |
32 |
694 |
c
|
EPD100 |
Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive |
32 |
695 |
|
NWN001 |
New-Onset Refractory Status Epilepticus |
32 |
696 |
c
|
ATS533 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
31 |
697 |
c
|
EPD106 |
Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive |
31 |
698 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
31 |
699 |
c
|
SPS243 |
Spastic Paraplegia 85, Autosomal Recessive |
31 |
700 |
|
RGN005 |
Regional Odontodysplasia |
31 |
701 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
31 |
702 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
31 |
703 |
c
|
EPL202 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
31 |
704 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
31 |
705 |
P
|
HYP658 |
Hypoplastic Amelogenesis Imperfecta |
30 |
706 |
c
|
BRC048 |
Bruck Syndrome 2 |
30 |
707 |
|
DYS198 |
Dystonia, Focal, Task-Specific |
30 |
708 |
c
|
SPS240 |
Spastic Paraplegia 83, Autosomal Recessive |
30 |
709 |
c
|
AML064 |
Amelogenesis Imperfecta, Type Iiic |
30 |
710 |
c
|
SPS244 |
Spastic Paraplegia 86, Autosomal Recessive |
30 |
711 |
|
SFT002 |
Soft Palate Cancer |
29 |
712 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
29 |
713 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
714 |
c
|
EPL204 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
29 |
715 |
c
|
SPS242 |
Spastic Paraplegia 84, Autosomal Recessive |
29 |
716 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
717 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
29 |
718 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
29 |
719 |
c
|
SPS091 |
Spastic Paraplegia 4 |
29 |
720 |
c
|
DVL080 |
Developmental and Epileptic Encephalopathy 56 |
28 |
721 |
c
|
CNG004 |
Congenital Epulis |
28 |
722 |
c
|
SPS013 |
Spastic Paraplegia 8 |
28 |
723 |
|
PRD003 |
Periodontosis |
28 |
724 |
|
MCC003 |
Mucocele of Salivary Gland |
28 |
725 |
c
|
PCH011 |
Pachyonychia Congenita 4 |
27 |
726 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
727 |
c
|
AML006 |
Amelogenesis Imperfecta Hypoplastic Type, Ig |
27 |
728 |
c
|
ENC060 |
Encephalopathy, Acute, Infection-Induced 1 |
27 |
729 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
27 |
730 |
|
ORL003 |
Oral Tuberculosis |
27 |
731 |
|
STN014 |
Stankiewicz-Isidor Syndrome |
26 |
732 |
|
TTH005 |
Teeth Hard Tissue Disease |
26 |
733 |
c
|
EPD124 |
Epidermolysis Bullosa, Junctional 5a, Intermediate |
26 |
734 |
c
|
EPL187 |
Epilepsy, Familial Focal, with Variable Foci 2 |
26 |
735 |
c
|
EPD104 |
Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive |
25 |
736 |
c
|
DYS212 |
Dystonia 30 |
25 |
737 |
c
|
EPL220 |
Epilepsy, Familial Focal, with Variable Foci 4 |
25 |
738 |
|
MTP004 |
Metaphyseal Acroscyphodysplasia |
24 |
739 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
24 |
740 |
|
16P004 |
16p13.11 Microduplication Syndrome |
24 |
741 |
c
|
AML050 |
Amelogenesis Imperfecta, Type if |
24 |
742 |
P
|
ACT046 |
Acute Apical Periodontitis |
24 |
743 |
c
|
SPS042 |
Spastic Paraplegia 9 |
24 |
744 |
c
|
ENC064 |
Encephalopathy, Acute, Infection-Induced 8 |
24 |
745 |
c
|
DYS138 |
Dystonia 21 |
23 |
746 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
23 |
747 |
c
|
ENC037 |
Encephalopathy, Acute, Infection-Induced 6 |
23 |
748 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
23 |
749 |
c
|
DYS219 |
Dystonia 33 |
23 |
750 |
|
ECT094 |
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type |
23 |
751 |
c
|
EPD109 |
Epidermolysis Bullosa Simplex 2b, Generalized Intermediate |
22 |
752 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
22 |
753 |
|
FBR087 |
Fibromatosis, Gingival, with Distinctive Facies |
22 |
754 |
c
|
STC012 |
Stickler Syndrome, Type Iv |
22 |
755 |
|
DVL117 |
Developmental Delay with Dysmorphic Facies and Dental Anomalies |
22 |
756 |
c
|
DYS214 |
Dystonia 31 |
22 |
757 |
c
|
EPD122 |
Epidermolysis Bullosa, Junctional 3b, Severe |
22 |
758 |
c
|
ENC070 |
Encephalopathy, Acute, Infection-Induced 9 |
22 |
759 |
|
INT502 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
22 |
760 |
|
AML004 |
Ameloblastic Carcinoma |
22 |
761 |
c
|
ENC063 |
Encephalopathy, Acute, Infection-Induced 7 |
22 |
762 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
21 |
763 |
|
SBM003 |
Submandibular Gland Disease |
21 |
764 |
c
|
STC020 |
Stickler Syndrome, Type Vi |
21 |
765 |
c
|
RSP027 |
Respiratory Papillomatosis, Juvenile Recurrent, Congenital |
21 |
766 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
21 |
767 |
c
|
EPD120 |
Epidermolysis Bullosa, Junctional 2b, Severe |
21 |
768 |
c
|
HRD198 |
Hereditary Dystonia |
21 |
769 |
c
|
EPL072 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
21 |
770 |
|
NNP002 |
Nonparalytic Poliomyelitis |
21 |
771 |
c
|
ENC062 |
Encephalopathy, Acute, Infection-Induced 5 |
21 |
772 |
|
EPG004 |
Epignathus |
21 |
773 |
P
|
USM001 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
21 |
774 |
|
HRD005 |
Hard Palate Cancer |
21 |
775 |
c
|
DYS223 |
Dystonia 28 |
21 |
776 |
c
|
LTN015 |
Late-Onset Junctional Epidermolysis Bullosa |
20 |
777 |
c
|
EPD111 |
Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate or Severe, Autosomal Recessive |
20 |
778 |
|
ODN020 |
Odontoma-Dysphagia Syndrome |
20 |
779 |
c
|
ENC072 |
Encephalopathy, Acute, Infection-Induced 10 |
20 |
780 |
c
|
EPD121 |
Epidermolysis Bullosa, Junctional 3a, Intermediate |
20 |
781 |
c
|
STC011 |
Stickler Syndrome, Type V |
20 |
782 |
|
ORL006 |
Oral Mucosa Leukoplakia |
20 |
783 |
|
RBN019 |
Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
20 |
784 |
c
|
EPD119 |
Epidermolysis Bullosa, Junctional 2a, Intermediate |
19 |
785 |
|
STT008 |
Steatocystoma Multiplex with Natal Teeth |
19 |
786 |
c
|
SPS246 |
Spastic Paraplegia 87, Autosomal Recessive |
19 |
787 |
|
PLP002 |
Pulp Degeneration |
19 |
788 |
|
GMC001 |
Gum Cancer |
19 |
789 |
|
AML058 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
19 |
790 |
|
16P008 |
16p11.2 Duplication |
19 |
791 |
|
ALN003 |
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
18 |
792 |
|
AML039 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
18 |
793 |
|
RCH003 |
Richieri Costa Da Silva Syndrome |
18 |
794 |
|
CLF034 |
Cleft Hard Palate |
18 |
795 |
c
|
SPS248 |
Spastic Paraplegia 88, Autosomal Dominant |
18 |
796 |
|
ECT087 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
18 |
797 |
c
|
ANG075 |
Angioedema, Hereditary, 7 |
17 |
798 |
|
MGL039 |
Megaloblastic Anemia, Folate-Responsive |
17 |
799 |
|
FRS011 |
First Branchial Cleft Anomaly |
17 |
800 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
16 |
801 |
|
STP007 |
Staphylococcal Scarlet Fever |
15 |
802 |
|
TTH023 |
Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum |
15 |
803 |
c
|
ATS532 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
15 |
804 |
|
DNT050 |
Dentin Dysplasia with Sclerotic Bones |
15 |
805 |
c
|
AML063 |
Amelogenesis Imperfecta Type 2a1 |
15 |
806 |
|
LRY030 |
Larynx Atresia |
15 |
807 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
15 |
808 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
15 |
809 |
|
CNG241 |
Congenital Laryngeal Palsy |
14 |
810 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
14 |
811 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
812 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
14 |
813 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
14 |
814 |
|
FXP001 |
Foxp2-Related Speech and Language Disorders |
14 |
815 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
13 |
816 |
|
GLS016 |
Glossopalatine Ankylosis |
13 |
817 |
|
LRY034 |
Laryngotracheal Angioma |
12 |
818 |
|
CLF020 |
Cleft Palate Stapes Fixation Oligodontia |
12 |
819 |
|
CNG244 |
Congenital Laryngeal Cyst |
11 |
820 |
|
ORL002 |
Oral Leukoedema |
11 |
821 |
|
RRD025 |
Rare Odontogenic Tumor |
10 |
822 |
|
FCL062 |
Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation |
10 |
823 |
c
|
RRD039 |
Rare Dystonia |
9 |
824 |
c
|
CNG110 |
Congenital Mumps |
8 |
825 |
c
|
LRY051 |
Laryngotracheoesophageal Cleft Type 1 |
8 |
826 |
c
|
PRD018 |
Periodontitis, Aggressive, 2 |
8 |
827 |
|
ODN001 |
Odontoclasia |
8 |
828 |
|
CMM016 |
Commissural Lip Fistula |
7 |
829 |
c
|
LPC001 |
Lip Carcinoma in Situ |
7 |
830 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
831 |
|
RTR002 |
Retromolar Area Cancer |
5 |
832 |
c
|
RRD009 |
Rare Disease with Dentinogenesis Imperfecta |
5 |
833 |
|
MLF004 |
Malformation Syndrome with Odontal and/or Periodontal Component |
3 |
834 |
|
CRV059 |
Cervicofacial Fibrochondroma |
3 |
835 |
|
TRC122 |
Trichomonas Tenax Trichomoniasis |
3 |
836 |
|
RRD007 |
Rare Odontal or Periodontal Disorder |
3 |
837 |
|
PCK003 |
Pick Disease of Brain |
71 |
838 |
|
EPL258 |
Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development |
61 |
839 |
|
CRB151 |
Cerebral Creatine Deficiency Syndrome 1 |
56 |
840 |
|
VLT001 |
Vulto-Van Silfhout-De Vries Syndrome |
40 |
841 |
|
CHN077 |
Chung-Jansen Syndrome |
34 |
842 |
|
NRD133 |
Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies |
32 |
843 |
c
|
INT472 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
29 |
844 |
|
PTZ001 |
Peutz-Jeghers Syndrome |
69 |
845 |
|
SVR096 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
55 |
846 |
|
PLS025 |
Plasmablastic Lymphoma |
48 |
847 |
|
RYN006 |
Raynaud-Claes Syndrome |
42 |
848 |
|
INT373 |
Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly |
38 |
849 |
|
INT578 |
Intellectual Developmental Disorder, Autosomal Dominant 30, with Speech Delay and Behavioral Abnormalities |
34 |
850 |
|
CRB228 |
Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities |
32 |
851 |
P
|
INC034 |
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 |
32 |
852 |
|
WRF003 |
Warfarin Syndrome |
31 |
853 |
|
DVL144 |
Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders |
17 |
854 |
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
66 |
855 |
|
ELL001 |
Ellis-Van Creveld Syndrome |
65 |
856 |
|
PRT037 |
Pertussis |
64 |
857 |
|
CLS005 |
Clouston Syndrome |
60 |
858 |
c
|
HRD202 |
Hereditary Lymphedema I |
60 |
859 |
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
57 |
860 |
P
|
ECT006 |
Ectodermal Dysplasia |
56 |
861 |
|
NNR004 |
Nonarteritic Anterior Ischemic Optic Neuropathy |
56 |
862 |
c
|
ESS001 |
Essential Tremor |
55 |
863 |
P
|
TRM003 |
Tremor |
54 |
864 |
|
GNG005 |
Gangliocytoma |
50 |
865 |
c
|
INT483 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
50 |
866 |
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
50 |
867 |
c
|
INT520 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
46 |
868 |
c
|
INT548 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
43 |
869 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
42 |
870 |
c
|
INT538 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
42 |
871 |
P
|
PRM327 |
Primary Lymphedema |
40 |
872 |
c
|
INT539 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
39 |
873 |
c
|
INT536 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
39 |
874 |
c
|
INT533 |
Intellectual Developmental Disorder, Autosomal Dominant 13 |
39 |
875 |
c
|
HRD206 |
Hereditary Lymphedema Ii |
38 |
876 |
|
INT372 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
38 |
877 |
c
|
ATS525 |
Autosomal Dominant Intellectual Developmental Disorder 8 |
38 |
878 |
c
|
HRD007 |
Hereditary Lymphedema |
38 |
879 |
c
|
INT542 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
37 |
880 |
c
|
INT516 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
37 |
881 |
c
|
INT547 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
37 |
882 |
c
|
INT513 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
36 |
883 |
c
|
INT453 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
36 |
884 |
c
|
INT455 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
35 |
885 |
c
|
TRM024 |
Tremor, Hereditary Essential, 1 |
35 |
886 |
c
|
INT550 |
Intellectual Developmental Disorder, Autosomal Dominant 41 |
34 |
887 |
c
|
CNG439 |
Congenital Lymphedema |
33 |
888 |
c
|
INT514 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
32 |
889 |
c
|
INT551 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
32 |
890 |
c
|
INT557 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
32 |
891 |
c
|
TRM017 |
Tremor, Hereditary Essential, 4 |
31 |
892 |
c
|
INT507 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
31 |
893 |
P
|
ATS522 |
Autosomal Dominant Intellectual Developmental Disorder |
31 |
894 |
c
|
INT555 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
30 |
895 |
c
|
INT549 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
30 |
896 |
c
|
INT537 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
30 |
897 |
c
|
INT546 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
29 |
898 |
c
|
ATS526 |
Autosomal Dominant Intellectual Developmental Disorder 19 |
29 |
899 |
c
|
INT556 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
29 |
900 |
c
|
INT521 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
29 |
901 |
c
|
INT505 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
29 |
902 |
|
BKR002 |
Baker-Gordon Syndrome |
28 |
903 |
c
|
TRM022 |
Tremor, Hereditary Essential, 5 |
28 |
904 |
c
|
TRM020 |
Tremor, Hereditary Essential, 2 |
28 |
905 |
c
|
INT560 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
28 |
906 |
c
|
INT460 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
28 |
907 |
c
|
INT554 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
28 |
908 |
c
|
ATS527 |
Autosomal Dominant Intellectual Developmental Disorder 31 |
28 |
909 |
c
|
INT566 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
27 |
910 |
c
|
INT475 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
27 |
911 |
c
|
INT562 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
27 |
912 |
c
|
INT563 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
27 |
913 |
c
|
INT517 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
27 |
914 |
c
|
INT535 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
27 |
915 |
c
|
ATS523 |
Autosomal Recessive Intellectual Developmental Disorder |
26 |
916 |
c
|
INT393 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
26 |
917 |
c
|
INT558 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
26 |
918 |
c
|
INT515 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
26 |
919 |
c
|
INT561 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
26 |
920 |
c
|
TRM029 |
Tremor, Hereditary Essential, 6 |
26 |
921 |
c
|
INT544 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
25 |
922 |
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
25 |
923 |
c
|
INT567 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
25 |
924 |
c
|
INT508 |
Intellectual Developmental Disorder, Autosomal Recessive 7 |
25 |
925 |
c
|
INT388 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
25 |
926 |
c
|
INT348 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
24 |
927 |
c
|
INT506 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
24 |
928 |
c
|
INT523 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
24 |
929 |
c
|
ATS524 |
Autosomal Dominant Intellectual Developmental Disorder 6 |
24 |
930 |
c
|
INT471 |
Intellectual Developmental Disorder, Autosomal Recessive 27 |
24 |
931 |
c
|
INT344 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
24 |
932 |
c
|
INT336 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
24 |
933 |
c
|
INT478 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
24 |
934 |
c
|
INT559 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
24 |
935 |
c
|
INT479 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
24 |
936 |
c
|
INT477 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
24 |
937 |
c
|
HRD204 |
Hereditary Lymphedema Ia |
24 |
938 |
c
|
INT335 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
23 |
939 |
c
|
INT462 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
23 |
940 |
c
|
INT540 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
23 |
941 |
c
|
INT484 |
Intellectual Developmental Disorder, Autosomal Recessive 1 |
23 |
942 |
c
|
INT364 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
23 |
943 |
c
|
INT468 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
23 |
944 |
c
|
HRD100 |
Hereditary Lymphedema Ic |
23 |
945 |
c
|
ATS529 |
Autosomal Dominant Intellectual Developmental Disorder 40 |
22 |
946 |
c
|
INT398 |
Intellectual Developmental Disorder, Autosomal Recessive 12 |
22 |
947 |
c
|
INT452 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
22 |
948 |
c
|
INT575 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
22 |
949 |
c
|
INT519 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
22 |
950 |
c
|
INT474 |
Intellectual Developmental Disorder, Autosomal Recessive 43 |
22 |
951 |
c
|
INT553 |
Intellectual Developmental Disorder, Autosomal Recessive 60 |
21 |
952 |
c
|
INT480 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
21 |
953 |
c
|
INT565 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
21 |
954 |
c
|
INT386 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
21 |
955 |
c
|
INT577 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
21 |
956 |
c
|
INT579 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
21 |
957 |
c
|
INT573 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
21 |
958 |
c
|
INT464 |
Intellectual Developmental Disorder, Autosomal Recessive 51 |
21 |
959 |
c
|
INT534 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
20 |
960 |
c
|
TRM016 |
Tremor, Hereditary Essential, 3 |
20 |
961 |
c
|
INT564 |
Intellectual Developmental Disorder, Autosomal Recessive 63 |
20 |
962 |
c
|
ECT114 |
Ectodermal Dysplasia 10b |
20 |
963 |
c
|
INT512 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
19 |
964 |
c
|
INT467 |
Intellectual Developmental Disorder, Autosomal Recessive 56 |
19 |
965 |
c
|
INT461 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
18 |
966 |
c
|
INT576 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
18 |
967 |
c
|
INT541 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
18 |
968 |
c
|
INT509 |
Intellectual Developmental Disorder, Autosomal Recessive 9 |
18 |
969 |
c
|
INT463 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
18 |
970 |
c
|
INT466 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
18 |
971 |
c
|
INT465 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
17 |
972 |
c
|
INT531 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
17 |
973 |
c
|
INT510 |
Intellectual Developmental Disorder, Autosomal Recessive 10 |
17 |
974 |
c
|
INT552 |
Intellectual Developmental Disorder, Autosomal Recessive 59 |
17 |
975 |
c
|
INT527 |
Intellectual Developmental Disorder, Autosomal Recessive 30 |
16 |
976 |
c
|
INT526 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
16 |
977 |
c
|
INT530 |
Intellectual Developmental Disorder, Autosomal Recessive 24 |
16 |
978 |
c
|
INT525 |
Intellectual Developmental Disorder, Autosomal Recessive 29 |
16 |
979 |
c
|
INT522 |
Intellectual Developmental Disorder, Autosomal Recessive 16 |
15 |
980 |
c
|
INT532 |
Intellectual Developmental Disorder, Autosomal Recessive 28 |
15 |
981 |
c
|
INT529 |
Intellectual Developmental Disorder, Autosomal Recessive 23 |
15 |
982 |
c
|
INT572 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
15 |
983 |
c
|
ECT117 |
Ectodermal Dysplasia 14 |
14 |
984 |
c
|
ATT025 |
Attention Deficit-Hyperactivity Disorder 8 |
14 |
985 |
c
|
INT524 |
Intellectual Developmental Disorder, Autosomal Recessive 31 |
14 |
986 |
c
|
INT511 |
Intellectual Developmental Disorder, Autosomal Recessive 11 |
14 |
987 |
c
|
INT528 |
Intellectual Developmental Disorder, Autosomal Recessive 19 |
14 |
988 |
c
|
ATT021 |
Attention Deficit-Hyperactivity Disorder 3 |
13 |
989 |
c
|
HRD203 |
Hereditary Lymphedema Id |
13 |
990 |
c
|
ATT020 |
Attention Deficit-Hyperactivity Disorder 2 |
12 |
991 |
c
|
GJC002 |
Gjc2-Related Late-Onset Primary Lymphedema |
12 |
992 |
c
|
ATT019 |
Attention Deficit-Hyperactivity Disorder 1 |
12 |
993 |
c
|
ATT022 |
Attention Deficit-Hyperactivity Disorder 4 |
11 |
994 |
c
|
HRD205 |
Hereditary Lymphedema Ib |
6 |
995 |
c
|
CLS057 |
Celsr1-Related Late-Onset Primary Lymphedema |
6 |
996 |
c
|
ATS531 |
Autosomal Recessive Intellectual Developmental Disorder 75 |
6 |
997 |
c
|
ATS530 |
Autosomal Recessive Intellectual Developmental Disorder 34 |
5 |
998 |
c
|
RRT014 |
Rare Tremor Disorder |
4 |
999 |
P
|
ATS364 |
Autism |
74 |
1000 |
P
|
LVR013 |
Liver Disease |
71 |
1001 |
c
|
ATS007 |
Autism Spectrum Disorder |
70 |
1002 |
P
|
OCL013 |
Oculodentodigital Dysplasia |
67 |
1003 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
1004 |
|
SVR066 |
Severe Combined Immunodeficiency, X-Linked |
66 |
1005 |
|
TYP007 |
Typhoid Fever |
64 |
1006 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
61 |
1007 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
59 |
1008 |
P
|
KHL003 |
Kohlschutter-Tonz Syndrome |
57 |
1009 |
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
1010 |
c
|
ACT134 |
Acute Liver Failure |
57 |
1011 |
P
|
AML002 |
Amelogenesis Imperfecta |
55 |
1012 |
|
DNT012 |
Dental Caries |
54 |
1013 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
52 |
1014 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
1015 |
|
EPT010 |
Epithelial-Myoepithelial Carcinoma |
51 |
1016 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
1017 |
|
ANK020 |
Ankyloglossia with or Without Tooth Anomalies |
50 |
1018 |
|
DYG001 |
Dyggve-Melchior-Clausen Disease |
50 |
1019 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
1020 |
|
SLD003 |
Sialadenitis |
49 |
1021 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
49 |
1022 |
c
|
HYP575 |
Hypotrichosis 7 |
49 |
1023 |
P
|
LRY029 |
Laryngomalacia |
49 |
1024 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
1025 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
48 |
1026 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
47 |
1027 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
47 |
1028 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
47 |
1029 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
1030 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
1031 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
46 |
1032 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
1033 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
45 |
1034 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
1035 |
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
45 |
1036 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
45 |
1037 |
P
|
SYN075 |
Syngnathia |
45 |
1038 |
|
HMN048 |
Human Papillomavirus Infectious Disease |
44 |
1039 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
1040 |
|
CKS001 |
Ck Syndrome |
44 |
1041 |
|
VRR004 |
Verrucous Carcinoma |
44 |
1042 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
42 |
1043 |
|
GGR001 |
Geographic Tongue |
42 |
1044 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
42 |
1045 |
c
|
AML057 |
Amelogenesis Imperfecta, Type Iiia |
42 |
1046 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
42 |
1047 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
42 |
1048 |
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
42 |
1049 |
|
TNG004 |
Tongue Disease |
41 |
1050 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
1051 |
|
48X005 |
48,xyyy |
41 |
1052 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
1053 |
c
|
PCH012 |
Pachyonychia Congenita 2 |
41 |
1054 |
|
OKR001 |
Okur-Chung Neurodevelopmental Syndrome |
41 |
1055 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
40 |
1056 |
P
|
HYP087 |
Hypotrichosis |
40 |
1057 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
40 |
1058 |
|
DNT001 |
Dental Fluorosis |
40 |
1059 |
|
VTM009 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 |
40 |
1060 |
c
|
HYP525 |
Hypotrichosis 2 |
40 |
1061 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
40 |
1062 |
c
|
LVR030 |
Liver Failure, Infantile, Transient |
40 |
1063 |
c
|
HYP581 |
Hypotrichosis 6 |
40 |
1064 |
P
|
DNT009 |
Dentin Dysplasia |
39 |
1065 |
c
|
HYP559 |
Hypotrichosis 8 |
39 |
1066 |
|
ORL019 |
Oral Hairy Leukoplakia |
39 |
1067 |
P
|
SNG014 |
Singleton-Merten Syndrome |
39 |
1068 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
37 |
1069 |
c
|
DNT051 |
Dentin Dysplasia, Type I |
37 |
1070 |
c
|
OST109 |
Osteogenesis Imperfecta, Type Xiv |
37 |
1071 |
|
PRT009 |
Parotid Gland Cancer |
37 |
1072 |
P
|
TTH010 |
Tooth Agenesis, Selective, 1 |
37 |
1073 |
c
|
EPD123 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
36 |
1074 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
36 |
1075 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
1076 |
c
|
HYP507 |
Hypotrichosis 1 |
36 |
1077 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
1078 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
35 |
1079 |
|
FSS001 |
Fissured Tongue |
35 |
1080 |
c
|
OST123 |
Osteogenesis Imperfecta, Type Xiii |
34 |
1081 |
c
|
DNT027 |
Dentin Dysplasia, Type Ii |
34 |
1082 |
|
PTL001 |
Patulous Eustachian Tube |
34 |
1083 |
|
BLP051 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
34 |
1084 |
c
|
DVL090 |
Developmental and Epileptic Encephalopathy 66 |
34 |
1085 |
c
|
HYP577 |
Hypotrichosis 13 |
34 |
1086 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
34 |
1087 |
c
|
SNG011 |
Singleton-Merten Syndrome 1 |
33 |
1088 |
|
LRY047 |
Laryngeal Abductor Paralysis |
33 |
1089 |
c
|
HYP576 |
Hypotrichosis 4 |
33 |
1090 |
|
MMM007 |
Mammary Analogue Secretory Carcinoma |
32 |
1091 |
|
ATR073 |
Atrophic Glossitis |
32 |
1092 |
c
|
INF194 |
Infantile Liver Failure Syndrome |
31 |
1093 |
c
|
INF138 |
Infantile Liver Failure Syndrome 2 |
31 |
1094 |
|
TTH001 |
Tooth Ankylosis |
30 |
1095 |
c
|
OCL047 |
Oculodentodigital Dysplasia, Autosomal Recessive |
29 |
1096 |
|
NRD091 |
Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures |
29 |
1097 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
29 |
1098 |
|
BCL016 |
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations |
28 |
1099 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
1100 |
c
|
HYP528 |
Hypotrichosis 11 |
28 |
1101 |
c
|
CNG626 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive |
27 |
1102 |
|
RMN002 |
Ramon Syndrome |
27 |
1103 |
|
OCL073 |
Oculoskeletodental Syndrome |
27 |
1104 |
c
|
HYP578 |
Hypotrichosis 12 |
27 |
1105 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
1106 |
|
NZN001 |
Nizon-Isidor Syndrome |
26 |
1107 |
c
|
HYP831 |
Hyperparathyroidism, Transient Neonatal |
26 |
1108 |
|
NRD109 |
Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies |
26 |
1109 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
1110 |
c
|
LVR033 |
Liver Disease, Severe Congenital |
25 |
1111 |
c
|
ATS370 |
Autism 3 |
25 |
1112 |
c
|
INF190 |
Infantile Liver Failure Syndrome 3 |
25 |
1113 |
|
HRY002 |
Hairy Tongue |
25 |
1114 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
1115 |
|
MRB008 |
Marbach-Schaaf Neurodevelopmental Syndrome |
24 |
1116 |
c
|
CNG627 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant |
24 |
1117 |
c
|
INT385 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
24 |
1118 |
|
SBL001 |
Sublingual Gland Cancer |
24 |
1119 |
|
NRD135 |
Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities |
24 |
1120 |
|
NRD118 |
Neurodevelopmental Disorder with or Without Autism or Seizures |
24 |
1121 |
c
|
SNG012 |
Singleton-Merten Syndrome 2 |
24 |
1122 |
|
CHL189 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
24 |
1123 |
|
INT570 |
Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features |
24 |
1124 |
c
|
EPD108 |
Epidermolysis Bullosa Simplex 2a, Generalized Severe |
23 |
1125 |
|
SCH031 |
Scholte Syndrome |
23 |
1126 |
|
HTT003 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
23 |
1127 |
|
NRD140 |
Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures |
23 |
1128 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
1129 |
|
CLF051 |
Cleft Larynx, Posterior |
23 |
1130 |
c
|
DYS216 |
Dystonia 32 |
23 |
1131 |
c
|
ATS376 |
Autism 15 |
22 |
1132 |
c
|
ATS474 |
Autism 20 |
22 |
1133 |
c
|
ATS369 |
Autism 8 |
22 |
1134 |
c
|
HYP832 |
Hypotrichosis 14 |
21 |
1135 |
|
TRC114 |
Trichodental Dysplasia |
21 |
1136 |
|
AMP011 |
Ampola Syndrome |
21 |
1137 |
c
|
HYP573 |
Hypotrichosis 5 |
20 |
1138 |
c
|
ATS378 |
Autism 17 |
20 |
1139 |
c
|
ATS377 |
Autism 16 |
20 |
1140 |
c
|
ACQ070 |
Acquired Laryngomalacia |
20 |
1141 |
|
LWR001 |
Lower Lip Cancer |
20 |
1142 |
|
UPN001 |
Upington Disease |
19 |
1143 |
|
PLY134 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies |
19 |
1144 |
|
UPP002 |
Upper Lip Cancer |
18 |
1145 |
c
|
ATS371 |
Autism 6 |
18 |
1146 |
|
CRT079 |
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta |
17 |
1147 |
|
49X005 |
49, Xxxyy Syndrome |
17 |
1148 |
|
EPL170 |
Epilepsy-Aphasia Spectrum |
17 |
1149 |
|
ODN021 |
Odontotrichoungual-Digital-Palmar Syndrome |
16 |
1150 |
c
|
ATS170 |
Autism 19 |
16 |
1151 |
c
|
ATS372 |
Autism 7 |
16 |
1152 |
c
|
ATS374 |
Autism 12 |
15 |
1153 |
c
|
HYP551 |
Hypotrichosis 9 |
15 |
1154 |
c
|
HYP544 |
Hypotrichosis 10 |
15 |
1155 |
c
|
ATS172 |
Autism 10 |
15 |
1156 |
c
|
ATS171 |
Autism 9 |
15 |
1157 |
|
FRT004 |
Fourth Branchial Cleft Anomaly |
14 |
1158 |
c
|
ATS373 |
Autism 11 |
14 |
1159 |
c
|
ATS375 |
Autism 13 |
14 |
1160 |
|
THY010 |
Thymus Mucoepidermoid Carcinoma |
14 |
1161 |
|
ODN004 |
Odonto Onycho Dysplasia with Alopecia |
13 |
1162 |
|
LRY054 |
Larynx Anomaly |
12 |
1163 |
|
CRV060 |
Cervical Dermoid Cyst |
12 |
1164 |
P
|
PCH020 |
Pachyonychia Congenita, Autosomal Recessive |
11 |
1165 |
|
BRN115 |
Bronchus Mucoepidermoid Carcinoma |
10 |
1166 |
|
ERY052 |
Erythrokeratodermia-Cardiomyopathy Syndrome |
10 |
1167 |
|
TRC108 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
9 |
1168 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
1169 |
|
LWR002 |
Lower Gum Cancer |
8 |
1170 |
|
LNR018 |
Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies |
8 |
1171 |
|
3Q2005 |
3q26q27 Microdeletion Syndrome |
7 |
1172 |
|
BNG007 |
Benign Lymphoepithelial Lesion of Salivary Gland |
7 |
1173 |
c
|
RRD010 |
Rare Disease with Autism |
7 |
1174 |
|
UPP003 |
Upper Gum Cancer |
7 |
1175 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
1176 |
|
FCL034 |
Facial Dermoid Cyst |
6 |
1177 |
|
LWR011 |
Lower Lip Fistula |
6 |
1178 |
|
PRM134 |
Primary Laryngeal Lymphangioma |
5 |
1179 |
c
|
OCL037 |
Oculodentodigital Dysplasia Dominant |
5 |
1180 |
|
CYS048 |
Cysts and Fistulae of the Face and Oral Cavity |
4 |
1181 |
c
|
SYN028 |
Syngnathia Multiple Anomalies |
4 |
1182 |
|
RRD058 |
Rare Disease with Odontological Manifestation |
3 |
1183 |
P
|
LCH002 |
Lichen Planus |
54 |
1184 |
|
FCL010 |
Focal Epithelial Hyperplasia |
38 |
1185 |
|
ATM008 |
Autoimmune Disease of Eyes, Ear, Nose and Throat |
30 |
1186 |
c
|
RRL001 |
Rare Lichen Planus |
12 |
1187 |
c
|
LCH017 |
Lichen Planus, Familial |
12 |
1188 |
P
|
LKN033 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 |
63 |
1189 |
|
APL002 |
Aplasia of Lacrimal and Salivary Glands |
59 |
1190 |
P
|
MND003 |
Mandibuloacral Dysplasia with Type a Lipodystrophy |
51 |
1191 |
c
|
LKN034 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 |
22 |
1192 |
P
|
HNT016 |
Huntington Disease |
72 |
1193 |
c
|
HPT073 |
Hepatitis C Virus |
70 |
1194 |
c
|
CLD021 |
Cleidocranial Dysplasia 1 |
66 |
1195 |
P
|
HPT021 |
Hepatitis |
65 |
1196 |
P
|
TTH002 |
Tooth Agenesis |
63 |
1197 |
c
|
HPT001 |
Hepatitis C |
63 |
1198 |
c
|
HPT016 |
Hepatitis B |
63 |
1199 |
c
|
HPT003 |
Hepatitis a |
62 |
1200 |
c
|
ATM011 |
Autoimmune Hepatitis |
62 |
1201 |
P
|
NSP012 |
Nasopharyngeal Carcinoma |
62 |
1202 |
c
|
HPT015 |
Hepatitis D |
60 |
1203 |
|
ADL030 |
Adult-Onset Still's Disease |
59 |
1204 |
c
|
OTP006 |
Otopalatodigital Syndrome, Type I |
59 |
1205 |
|
LYM004 |
Lymphoid Interstitial Pneumonia |
58 |
1206 |
|
ORL004 |
Oral Submucous Fibrosis |
56 |
1207 |
|
APH001 |
Aphthous Stomatitis |
56 |
1208 |
c
|
AML044 |
Amelogenesis Imperfecta, Type Ig |
55 |
1209 |
P
|
DRR001 |
Diarrhea |
55 |
1210 |
|
TNG007 |
Tongue Carcinoma |
54 |
1211 |
c
|
VRL010 |
Viral Hepatitis |
53 |
1212 |
c
|
HPT007 |
Hepatitis E |
52 |
1213 |
P
|
VND002 |
Van Der Woude Syndrome |
52 |
1214 |
|
SLV012 |
Salivary Gland Adenoid Cystic Carcinoma |
51 |
1215 |
c
|
HNT004 |
Huntington Disease-Like 2 |
49 |
1216 |
|
ORL015 |
Oral Squamous Cell Carcinoma |
49 |
1217 |
|
GLS007 |
Glossitis |
48 |
1218 |
|
AML029 |
Ameloblastoma |
47 |
1219 |
P
|
HYP769 |
Hyperlysinemia, Type I |
47 |
1220 |
P
|
TRC005 |
Tracheal Stenosis |
46 |
1221 |
|
CHL012 |
Childhood Disintegrative Disease |
46 |
1222 |
c
|
HNT010 |
Huntington Disease-Like 1 |
46 |
1223 |
P
|
EPL196 |
Epilepsy, Familial Focal, with Variable Foci 1 |
46 |
1224 |
|
JLL001 |
Jalili Syndrome |
46 |
1225 |
P
|
ORL007 |
Oral Cavity Cancer |
46 |
1226 |
|
MCP033 |
Mucopolysaccharidoses |
44 |
1227 |
|
SLV003 |
Salivary Gland Disease |
42 |
1228 |
|
HYP187 |
Hypertryptophanemia |
42 |
1229 |
|
CHR704 |
Chromosome 16p11.2 Deletion Syndrome |
40 |
1230 |
P
|
LPC002 |
Lip Cancer |
40 |
1231 |
|
FLR007 |
Failure of Tooth Eruption, Primary |
39 |
1232 |
c
|
VND007 |
Van Der Woude Syndrome 1 |
39 |
1233 |
c
|
AML061 |
Amelogenesis Imperfecta, Type Ie |
38 |
1234 |
|
PLT007 |
Palatopharyngeal Incompetence |
37 |
1235 |
c
|
ZMM002 |
Zimmermann-Laband Syndrome 1 |
37 |
1236 |
|
KKC001 |
Kikuchi Disease |
37 |
1237 |
c
|
ACT004 |
Acute Diarrhea |
36 |
1238 |
P
|
FML333 |
Familial Behcet-Like Autoinflammatory Syndrome |
36 |
1239 |
|
NM001 |
Noma |
35 |
1240 |
c
|
HNT011 |
Huntington Disease-Like 3 |
35 |
1241 |
|
ODN025 |
Odontochondrodysplasia 1 |
34 |
1242 |
c
|
INF002 |
Inflammatory Diarrhea |
34 |
1243 |
c
|
CNG370 |
Congenital Tracheal Stenosis |
34 |
1244 |
|
PLM009 |
Pleomorphic Adenoma Carcinoma |
33 |
1245 |
P
|
OTP008 |
Otopalatodigital Syndrome Spectrum Disorder |
33 |
1246 |
|
PRL013 |
Paralytic Poliomyelitis |
33 |
1247 |
P
|
ZMM001 |
Zimmermann-Laband Syndrome |
33 |
1248 |
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
32 |
1249 |
c
|
DRR009 |
Diarrhea 6 |
32 |
1250 |
c
|
ECT065 |
Ectodermal Dysplasia 7, Hair/nail Type |
31 |
1251 |
|
HYP728 |
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia |
29 |
1252 |
|
SPN133 |
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations |
29 |
1253 |
c
|
CNG478 |
Congenital Diarrhea |
29 |
1254 |
|
DNT044 |
Dentinogenesis Imperfecta, Shields Type Iii |
28 |
1255 |
c
|
JVN015 |
Juvenile Huntington Disease |
28 |
1256 |
|
DMN026 |
Dementia Pugilistica |
28 |
1257 |
c
|
EPL192 |
Epilepsy, Familial Focal, with Variable Foci 3 |
28 |
1258 |
|
FLR003 |
Florid Cemento-Osseous Dysplasia |
28 |
1259 |
|
HYP643 |
Hypohidrotic Ectodermal Dysplasia with Immunodeficiency |
28 |
1260 |
c
|
CFF012 |
Coffin-Siris Syndrome 7 |
27 |
1261 |
|
MLN001 |
Melanotic Neuroectodermal Tumor |
27 |
1262 |
|
INT369 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
27 |
1263 |
|
MYT019 |
May-Thurner Syndrome |
26 |
1264 |
|
PRM288 |
Permanent Molars, Secondary Retention of |
26 |
1265 |
|
VSS003 |
Vissers-Bodmer Syndrome |
26 |
1266 |
|
HYP049 |
Hypertrophy of Tongue Papillae |
26 |
1267 |
|
SHK002 |
Shukla-Vernon Syndrome |
26 |
1268 |
|
RDT018 |
Radio-Tartaglia Syndrome |
25 |
1269 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
25 |
1270 |
|
FBR088 |
Fibromatosis, Gingival, with Progressive Deafness |
25 |
1271 |
c
|
DRR018 |
Diarrhea 9 |
25 |
1272 |
|
MCD002 |
Mcdonough Syndrome |
25 |
1273 |
|
LRY046 |
Laryngeal Web, Familial |
25 |
1274 |
c
|
CHR465 |
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity |
25 |
1275 |
|
DRM041 |
Dermoid Cysts, Familial Frontonasal |
25 |
1276 |
|
LRY028 |
Laryngocele |
25 |
1277 |
|
SBM004 |
Submandibular Gland Cancer |
24 |
1278 |
|
ORL029 |
Oral Rhabdomyosarcoma |
24 |
1279 |
c
|
INT400 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
24 |
1280 |
|
NRD116 |
Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy |
24 |
1281 |
c
|
ATN028 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
24 |
1282 |
|
NRD085 |
Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures |
24 |
1283 |
c
|
INT345 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
23 |
1284 |
|
PRT100 |
Parotid Gland Adenoid Cystic Carcinoma |
23 |
1285 |
c
|
ZMM003 |
Zimmermann-Laband Syndrome 2 |
23 |
1286 |
|
CTF001 |
Catifa Syndrome |
23 |
1287 |
|
INT568 |
Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly |
22 |
1288 |
c
|
ZMM004 |
Zimmermann-Laband Syndrome 3 |
22 |
1289 |
c
|
CLD022 |
Cleidocranial Dysplasia 2 |
21 |
1290 |
|
LCR002 |
Lacrimal Gland Mucoepidermoid Carcinoma |
21 |
1291 |
|
BRN151 |
Brunet-Wagner Neurodevelopmental Syndrome |
20 |
1292 |
|
LRY003 |
Laryngeal Mucoepidermoid Carcinoma |
20 |
1293 |
c
|
ATM112 |
Autoimmune Hepatitis Type 1 |
20 |
1294 |
c
|
NSP015 |
Nasopharyngeal Carcinoma 3 |
20 |
1295 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
19 |
1296 |
c
|
CLD019 |
Cleidocranial Dysplasia Spectrum Disorder |
19 |
1297 |
|
CNG243 |
Congenital Subglottic Stenosis |
18 |
1298 |
c
|
ATM111 |
Autoimmune Hepatitis Type 2 |
18 |
1299 |
c
|
NSP009 |
Nasopharyngeal Carcinoma 2 |
18 |
1300 |
|
SGM006 |
Segmental Odontomaxillary Dysplasia |
16 |
1301 |
|
MGC006 |
Magic Syndrome |
15 |
1302 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
15 |
1303 |
P
|
LRY049 |
Laryngotracheoesophageal Cleft Type 4 |
14 |
1304 |
P
|
CLD018 |
Cleidocranial Dysplasia, Recessive Form |
14 |
1305 |
|
LTN031 |
Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Sy |
12 |
1306 |
|
DNT049 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
12 |
1307 |
c
|
HYP770 |
Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria |
11 |
1308 |
|
DGS006 |
Digestive Duplication Cyst of the Tongue |
11 |
1309 |
|
PYR042 |
Pyramidal Molars-Abnormal Upper Lip Syndrome |
10 |
1310 |
c
|
NNS127 |
Nonsyndromic Tooth Agenesis |
9 |
1311 |
|
CHK002 |
Cheek Mucosa Cancer |
9 |
1312 |
c
|
ORL001 |
Oral Cavity Carcinoma in Situ |
8 |
1313 |
|
UVL001 |
Uvula Cancer |
7 |
1314 |
|
VST002 |
Vestibule of Mouth Cancer |
6 |
1315 |
|
NSL027 |
Nasal Dorsum Fistula |
6 |
1316 |
|
TRC090 |
Trachea Mucoepidermoid Carcinoma |
4 |
1317 |
P
|
HRP006 |
Herpes Simplex |
64 |
1318 |
P
|
OSS001 |
Ossifying Fibroma |
37 |
1319 |
c
|
CNG100 |
Congenital Herpes Simplex |
34 |
1320 |
c
|
JVN045 |
Juvenile Ossifying Fibroma |
15 |
1321 |
|
SCC001 |
Succinic Semialdehyde Dehydrogenase Deficiency |
59 |
1322 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
69 |
1323 |
|
OBS002 |
Obsessive-Compulsive Disorder |
67 |
1324 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
67 |
1325 |
P
|
OST135 |
Osteogenesis Imperfecta, Type I |
64 |
1326 |
|
INC021 |
Incontinentia Pigmenti |
63 |
1327 |
|
LCR014 |
Lacrimoauriculodentodigital Syndrome |
61 |
1328 |
c
|
HYP293 |
Hypophosphatasia, Adult |
60 |
1329 |
|
AVN001 |
Avian Influenza |
60 |
1330 |
c
|
OST122 |
Osteogenesis Imperfecta, Type Iii |
59 |
1331 |
|
PMP006 |
Pemphigus Vulgaris, Familial |
59 |
1332 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
59 |
1333 |
c
|
OST080 |
Osteogenesis Imperfecta, Type Ii |
58 |
1334 |
|
HYL004 |
Hyaline Fibromatosis Syndrome |
57 |
1335 |
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
56 |
1336 |
|
ORL005 |
Oral Candidiasis |
55 |
1337 |
|
CFF003 |
Caffey Disease |
55 |
1338 |
c
|
KLF004 |
Kleefstra Syndrome 1 |
54 |
1339 |
c
|
OST132 |
Osteogenesis Imperfecta, Type Vi |
54 |
1340 |
c
|
OST121 |
Osteogenesis Imperfecta, Type Iv |
54 |
1341 |
P
|
CRB154 |
Cerebrocostomandibular Syndrome |
53 |
1342 |
|
GNG004 |
Ganglioglioma |
53 |
1343 |
|
DNT045 |
Dental Anomalies and Short Stature |
53 |
1344 |
|
HRP009 |
Herpes Simplex Encephalitis |
52 |
1345 |
|
HYP082 |
Hypopharynx Cancer |
51 |
1346 |
P
|
SLV026 |
Salivary Gland Carcinoma |
50 |
1347 |
P
|
KLF001 |
Kleefstra Syndrome |
49 |
1348 |
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
49 |
1349 |
c
|
OST119 |
Osteogenesis Imperfecta, Type Vii |
48 |
1350 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
47 |
1351 |
P
|
SPN448 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity |
47 |
1352 |
|
IMM275 |
Immunodeficiency 104 |
47 |
1353 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
47 |
1354 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
47 |
1355 |
|
AND001 |
Anodontia |
46 |
1356 |
c
|
OST133 |
Osteogenesis Imperfecta, Type Xi |
45 |
1357 |
|
TNG009 |
Tongue Squamous Cell Carcinoma |
45 |
1358 |
c
|
OST118 |
Osteogenesis Imperfecta, Type Viii |
44 |
1359 |
c
|
DNT025 |
Dentinogenesis Imperfecta 1 |
44 |
1360 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
43 |
1361 |
|
GPS001 |
Gapo Syndrome |
43 |
1362 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
42 |
1363 |
c
|
OST124 |
Osteogenesis Imperfecta, Type V |
42 |
1364 |
|
CPL002 |
Capillary Lymphangioma |
42 |
1365 |
c
|
OST110 |
Osteogenesis Imperfecta, Type Xv |
40 |
1366 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
39 |
1367 |
|
EPD117 |
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous |
39 |
1368 |
c
|
OST130 |
Osteogenesis Imperfecta, Type Ix |
39 |
1369 |
c
|
OST128 |
Osteogenesis Imperfecta, Type Xii |
37 |
1370 |
c
|
OST178 |
Osteogenesis Imperfecta, Type Xxi |
37 |
1371 |
|
BKS003 |
Beukes Hip Dysplasia |
37 |
1372 |
c
|
SPN263 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 |
36 |
1373 |
c
|
OST170 |
Osteogenesis Imperfecta, Type Xix |
36 |
1374 |
c
|
OST127 |
Osteogenesis Imperfecta, Type X |
36 |
1375 |
|
INT585 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
35 |
1376 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
35 |
1377 |
c
|
OST169 |
Osteogenesis Imperfecta, Type Xviii |
33 |
1378 |
c
|
OST176 |
Osteogenesis Imperfecta, Type Xx |
32 |
1379 |
|
SKN024 |
Skin Fragility-Woolly Hair Syndrome |
32 |
1380 |
c
|
DFN331 |
Deafness, Congenital, with Onychodystrophy, Autosomal Dominant |
32 |
1381 |
|
OLG005 |
Oligodontia-Colorectal Cancer Syndrome |
30 |
1382 |
c
|
OST139 |
Osteogenesis Imperfecta, Type Xvi |
30 |
1383 |
c
|
OST138 |
Osteogenesis Imperfecta, Type Xvii |
29 |
1384 |
|
ATN027 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
28 |
1385 |
|
CNC020 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma |
27 |
1386 |
|
WSM003 |
Weismann-Netter Syndrome |
27 |
1387 |
|
APR009 |
Aprosencephaly Syndrome |
27 |
1388 |
|
FCL088 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome |
26 |
1389 |
c
|
INT545 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
26 |
1390 |
|
HYP814 |
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency |
26 |
1391 |
|
BLD005 |
Bile Duct Mucoepidermoid Carcinoma |
25 |
1392 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
25 |
1393 |
c
|
SPN434 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 |
24 |
1394 |
|
DRM023 |
Dermoodontodysplasia |
22 |
1395 |
|
SLV032 |
Salivary Gland Mucinous Adenocarcinoma |
22 |
1396 |
|
SBL007 |
Sublingual Gland Adenoid Cystic Carcinoma |
22 |
1397 |
c
|
OST180 |
Osteogenesis Imperfecta, Type Xxii |
21 |
1398 |
|
RTH002 |
Rutherfurd Syndrome |
21 |
1399 |
|
PLD002 |
Pilodental Dysplasia with Refractive Errors |
20 |
1400 |
|
CPP001 |
Copper Deficiency, Familial Benign |
20 |
1401 |
|
ECT069 |
Ectodermal Dysplasia 8, Hair/tooth/nail Type |
20 |
1402 |
|
PNH003 |
Pinheiro Freire-Maia Miranda Syndrome |
19 |
1403 |
|
DFN311 |
Deafness-Craniofacial Syndrome |
18 |
1404 |
|
DFN307 |
Deafness-Oligodontia Syndrome |
18 |
1405 |
|
CRL002 |
Curly Hair-Acral Keratoderma-Caries Syndrome |
18 |
1406 |
|
ECT091 |
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type |
17 |
1407 |
|
ODN008 |
Odontomicronychial Dysplasia |
17 |
1408 |
P
|
DFN296 |
Deafness-Onychodystrophy Syndrome |
15 |
1409 |
|
TRC057 |
Trichoodontoonychial Dysplasia |
13 |
1410 |
c
|
ATS273 |
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
7 |
1411 |
c
|
CRB078 |
Cerebrocostomandibular-Like Syndrome |
7 |
1412 |
P
|
ATS271 |
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
5 |
1413 |
c
|
SLV006 |
Salivary Gland Cancer, Adult |
3 |
1414 |
P
|
PHR004 |
Pharynx Cancer |
46 |
1415 |
|
PSD001 |
Pseudobulbar Palsy |
41 |
1416 |
c
|
DVL042 |
Developmental and Epileptic Encephalopathy 14 |
62 |
1417 |
c
|
DVL030 |
Developmental and Epileptic Encephalopathy 36 |
61 |
1418 |
c
|
OTP007 |
Otopalatodigital Syndrome, Type Ii |
61 |
1419 |
|
BRN045 |
Brunner Syndrome |
59 |
1420 |
c
|
DVL033 |
Developmental and Epileptic Encephalopathy 1 |
57 |
1421 |
|
BRN009 |
Burning Mouth Syndrome |
56 |
1422 |
P
|
EPD116 |
Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia |
56 |
1423 |
c
|
DVL038 |
Developmental and Epileptic Encephalopathy 7 |
54 |
1424 |
P
|
DNT011 |
Dentinogenesis Imperfecta |
54 |
1425 |
|
CRD180 |
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma |
54 |
1426 |
c
|
DVL029 |
Developmental and Epileptic Encephalopathy 2 |
53 |
1427 |
c
|
DVL027 |
Developmental and Epileptic Encephalopathy 9 |
52 |
1428 |
|
MCP006 |
Mucoepidermoid Carcinoma |
52 |
1429 |
P
|
DVL113 |
Developmental and Epileptic Encephalopathy |
51 |
1430 |
c
|
DVL041 |
Developmental and Epileptic Encephalopathy 13 |
50 |
1431 |
P
|
BLP047 |
Blepharocheilodontic Syndrome 1 |
50 |
1432 |
c
|
DVL035 |
Developmental and Epileptic Encephalopathy 4 |
47 |
1433 |
c
|
ANG071 |
Angioedema, Hereditary, 3 |
47 |
1434 |
|
TRC118 |
Trichodentoosseous Syndrome |
46 |
1435 |
c
|
DVL118 |
Developmental and Epileptic Encephalopathy 94 |
46 |
1436 |
c
|
DVL048 |
Developmental and Epileptic Encephalopathy 21 |
45 |
1437 |
c
|
DVL039 |
Developmental and Epileptic Encephalopathy 11 |
45 |
1438 |
c
|
DVL056 |
Developmental and Epileptic Encephalopathy 30 |
44 |
1439 |
|
ANH004 |
Anhidrosis, Isolated, with Normal Sweat Glands |
44 |
1440 |
c
|
DVL068 |
Developmental and Epileptic Encephalopathy 43 |
44 |
1441 |
c
|
DVL099 |
Developmental and Epileptic Encephalopathy 75 |
43 |
1442 |
c
|
DVL067 |
Developmental and Epileptic Encephalopathy 42 |
43 |
1443 |
c
|
DVL044 |
Developmental and Epileptic Encephalopathy 16 |
43 |
1444 |
c
|
DVL077 |
Developmental and Epileptic Encephalopathy 53 |
42 |
1445 |
c
|
DVL076 |
Developmental and Epileptic Encephalopathy 52 |
42 |
1446 |
P
|
INT399 |
Intellectual Developmental Disorder, X-Linked 109 |
42 |
1447 |
c
|
DVL037 |
Developmental and Epileptic Encephalopathy 5 |
42 |
1448 |
c
|
DVL049 |
Developmental and Epileptic Encephalopathy 23 |
42 |
1449 |
c
|
DVL062 |
Developmental and Epileptic Encephalopathy 35 |
42 |
1450 |
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
41 |
1451 |
c
|
DVL072 |
Developmental and Epileptic Encephalopathy 47 |
41 |
1452 |
c
|
DVL100 |
Developmental and Epileptic Encephalopathy 76 |
40 |
1453 |
c
|
DVL045 |
Developmental and Epileptic Encephalopathy 17 |
40 |
1454 |
c
|
DVL064 |
Developmental and Epileptic Encephalopathy 38 |
40 |
1455 |
c
|
DVL034 |
Developmental and Epileptic Encephalopathy 3 |
39 |
1456 |
c
|
DVL061 |
Developmental and Epileptic Encephalopathy 34 |
39 |
1457 |
c
|
DVL098 |
Developmental and Epileptic Encephalopathy 74 |
39 |
1458 |
c
|
DVL028 |
Developmental and Epileptic Encephalopathy 8 |
39 |
1459 |
|
WST002 |
Western Equine Encephalitis |
39 |
1460 |
c
|
DVL040 |
Developmental and Epileptic Encephalopathy 12 |
39 |
1461 |
c
|
DVL103 |
Developmental and Epileptic Encephalopathy 80 |
39 |
1462 |
c
|
MCL059 |
Macular Dystrophy, Patterned, 1 |
38 |
1463 |
c
|
DVL073 |
Developmental and Epileptic Encephalopathy 48 |
38 |
1464 |
c
|
DVL109 |
Developmental and Epileptic Encephalopathy 87 |
38 |
1465 |
c
|
DVL060 |
Developmental and Epileptic Encephalopathy 50 |
38 |
1466 |
c
|
STC013 |
Stickler Syndrome, Type Ii |
38 |
1467 |
c
|
DVL053 |
Developmental and Epileptic Encephalopathy 27 |
38 |
1468 |
c
|
DVL043 |
Developmental and Epileptic Encephalopathy 15 |
38 |
1469 |
c
|
DVL055 |
Developmental and Epileptic Encephalopathy 29 |
37 |
1470 |
c
|
DVL078 |
Developmental and Epileptic Encephalopathy 54 |
36 |
1471 |
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
36 |
1472 |
c
|
DVL079 |
Developmental and Epileptic Encephalopathy 55 |
36 |
1473 |
c
|
DVL069 |
Developmental and Epileptic Encephalopathy 44 |
36 |
1474 |
c
|
DVL097 |
Developmental and Epileptic Encephalopathy 73 |
36 |
1475 |
c
|
INT414 |
Intellectual Developmental Disorder, X-Linked 29 |
35 |
1476 |
c
|
INT446 |
Intellectual Developmental Disorder, X-Linked 1 |
35 |
1477 |
c
|
INT403 |
Intellectual Developmental Disorder, X-Linked 21 |
34 |
1478 |
c
|
DVL054 |
Developmental and Epileptic Encephalopathy 28 |
34 |
1479 |
c
|
DVL059 |
Developmental and Epileptic Encephalopathy 33 |
34 |
1480 |
c
|
DVL057 |
Developmental and Epileptic Encephalopathy 31 |
34 |
1481 |
c
|
DVL089 |
Developmental and Epileptic Encephalopathy 65 |
33 |
1482 |
c
|
MCL070 |
Macular Dystrophy, Patterned, 3 |
33 |
1483 |
c
|
DVL084 |
Developmental and Epileptic Encephalopathy 60 |
33 |
1484 |
c
|
INT430 |
Intellectual Developmental Disorder, X-Linked 98 |
32 |
1485 |
c
|
INT342 |
Intellectual Developmental Disorder, X-Linked 108 |
32 |
1486 |
|
SHH004 |
Shaheen Syndrome |
32 |
1487 |
c
|
DVL046 |
Developmental and Epileptic Encephalopathy 18 |
32 |
1488 |
c
|
ECT066 |
Ectodermal Dysplasia 9, Hair/nail Type |
32 |
1489 |
c
|
DVL129 |
Developmental and Epileptic Encephalopathy 25 |
31 |
1490 |
c
|
DVL119 |
Developmental and Epileptic Encephalopathy 6b |
31 |
1491 |
|
OTD001 |
Otodental Dysplasia |
31 |
1492 |
c
|
MCL071 |
Macular Dystrophy, Patterned, 2 |
31 |
1493 |
c
|
DVL114 |
Developmental and Epileptic Encephalopathy 91 |
31 |
1494 |
c
|
INT419 |
Intellectual Developmental Disorder, X-Linked 30 |
30 |
1495 |
c
|
DVL063 |
Developmental and Epileptic Encephalopathy 37 |
30 |
1496 |
c
|
DVL107 |
Developmental and Epileptic Encephalopathy 84 |
30 |
1497 |
c
|
INT425 |
Intellectual Developmental Disorder, X-Linked 19 |
30 |
1498 |
c
|
DVL058 |
Developmental and Epileptic Encephalopathy 32 |
28 |
1499 |
c
|
INT434 |
Intellectual Developmental Disorder, X-Linked 12 |
28 |
1500 |
c
|
DVL071 |
Developmental and Epileptic Encephalopathy 46 |
28 |
1501 |
c
|
DVL112 |
Developmental and Epileptic Encephalopathy 89 |
28 |
1502 |
c
|
DVL066 |
Developmental and Epileptic Encephalopathy 41 |
27 |
1503 |
c
|
DVL094 |
Developmental and Epileptic Encephalopathy 70 |
27 |
1504 |
c
|
DVL093 |
Developmental and Epileptic Encephalopathy 69 |
27 |
1505 |
c
|
DVL120 |
Developmental and Epileptic Encephalopathy 95 |
27 |
1506 |
c
|
DVL086 |
Developmental and Epileptic Encephalopathy 62 |
27 |
1507 |
c
|
DVL088 |
Developmental and Epileptic Encephalopathy 64 |
27 |
1508 |
c
|
DVL074 |
Developmental and Epileptic Encephalopathy 49 |
27 |
1509 |
c
|
DVL116 |
Developmental and Epileptic Encephalopathy 93 |
27 |
1510 |
c
|
INT420 |
Intellectual Developmental Disorder, X-Linked 93 |
27 |
1511 |
c
|
ECT068 |
Ectodermal Dysplasia 6, Hair/nail Type |
27 |
1512 |
c
|
DVL047 |
Developmental and Epileptic Encephalopathy 19 |
27 |
1513 |
c
|
INT431 |
Intellectual Developmental Disorder, X-Linked 99 |
27 |
1514 |
c
|
DVL101 |
Developmental and Epileptic Encephalopathy 78 |
27 |
1515 |
c
|
DVL092 |
Developmental and Epileptic Encephalopathy 68 |
26 |
1516 |
c
|
DVL091 |
Developmental and Epileptic Encephalopathy 67 |
26 |
1517 |
c
|
DVL083 |
Developmental and Epileptic Encephalopathy 59 |
26 |
1518 |
c
|
DVL075 |
Developmental and Epileptic Encephalopathy 51 |
26 |
1519 |
c
|
DVL104 |
Developmental and Epileptic Encephalopathy 81 |
26 |
1520 |
c
|
DVL115 |
Developmental and Epileptic Encephalopathy 92 |
26 |
1521 |
c
|
INT447 |
Intellectual Developmental Disorder, X-Linked 9 |
26 |
1522 |
c
|
ECT064 |
Ectodermal Dysplasia 5, Hair/nail Type |
26 |
1523 |
c
|
DVL127 |
Developmental and Epileptic Encephalopathy 98 |
26 |
1524 |
c
|
DVL128 |
Developmental and Epileptic Encephalopathy 99 |
26 |
1525 |
c
|
DVL070 |
Developmental and Epileptic Encephalopathy 45 |
26 |
1526 |
c
|
INT439 |
Intellectual Developmental Disorder, X-Linked 104 |
26 |
1527 |
c
|
DVL081 |
Developmental and Epileptic Encephalopathy 57 |
25 |
1528 |
c
|
DVL106 |
Developmental and Epileptic Encephalopathy 83 |
25 |
1529 |
c
|
INT442 |
Intellectual Developmental Disorder, X-Linked 106 |
25 |
1530 |
c
|
DVL102 |
Developmental and Epileptic Encephalopathy 79 |
25 |
1531 |
c
|
DVL032 |
Developmental and Epileptic Encephalopathy 90 |
25 |
1532 |
c
|
DVL131 |
Developmental and Epileptic Encephalopathy 100 |
25 |
1533 |
c
|
INT413 |
Intellectual Developmental Disorder, X-Linked 63 |
25 |
1534 |
c
|
BLP049 |
Blepharocheilodontic Syndrome 2 |
25 |
1535 |
c
|
DVL105 |
Developmental and Epileptic Encephalopathy 82 |
25 |
1536 |
c
|
DVL085 |
Developmental and Epileptic Encephalopathy 61 |
25 |
1537 |
|
8P2002 |
8p23.1 Duplication Syndrome |
24 |
1538 |
c
|
DVL087 |
Developmental and Epileptic Encephalopathy 63 |
24 |
1539 |
c
|
INT424 |
Intellectual Developmental Disorder, X-Linked 97 |
24 |
1540 |
c
|
INT427 |
Intellectual Developmental Disorder, X-Linked 90 |
24 |
1541 |
c
|
DVL110 |
Developmental and Epileptic Encephalopathy 88 |
24 |
1542 |
c
|
DVL095 |
Developmental and Epileptic Encephalopathy 71 |
24 |
1543 |
c
|
DVL065 |
Developmental and Epileptic Encephalopathy 40 |
24 |
1544 |
c
|
INT426 |
Intellectual Developmental Disorder, X-Linked 41 |
24 |
1545 |
c
|
DVL096 |
Developmental and Epileptic Encephalopathy 72 |
24 |
1546 |
c
|
INT397 |
Intellectual Developmental Disorder, X-Linked 50 |
24 |
1547 |
c
|
INT411 |
Intellectual Developmental Disorder, X-Linked 72 |
24 |
1548 |
c
|
DVL082 |
Developmental and Epileptic Encephalopathy 58 |
23 |
1549 |
c
|
EPD125 |
Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia |
23 |
1550 |
c
|
DVL132 |
Developmental and Epileptic Encephalopathy 101 |
22 |
1551 |
c
|
DVL124 |
Developmental and Epileptic Encephalopathy 97 |
22 |
1552 |
c
|
INT406 |
Intellectual Developmental Disorder, X-Linked 58 |
22 |
1553 |
c
|
INT438 |
Intellectual Developmental Disorder, X-Linked 103 |
22 |
1554 |
c
|
DVL121 |
Developmental and Epileptic Encephalopathy 96 |
22 |
1555 |
c
|
DVL134 |
Developmental and Epileptic Encephalopathy 102 |
22 |
1556 |
c
|
INT445 |
Intellectual Developmental Disorder, X-Linked 107 |
21 |
1557 |
c
|
DVL135 |
Developmental and Epileptic Encephalopathy 103 |
21 |
1558 |
|
SBR011 |
Subaortic Stenosis--Short Stature Syndrome |
21 |
1559 |
c
|
DVL141 |
Developmental and Epileptic Encephalopathy 106 |
21 |
1560 |
c
|
INT423 |
Intellectual Developmental Disorder, X-Linked 96 |
21 |
1561 |
c
|
DVL108 |
Developmental and Epileptic Encephalopathy 86 |
21 |
1562 |
c
|
DVL136 |
Developmental and Epileptic Encephalopathy 104 |
20 |
1563 |
c
|
INT496 |
Intellectual Developmental Disorder, X-Linked 45 |
20 |
1564 |
|
EPD051 |
Epidermolysis Bullosa Simplex with Anodontia/hypodontia |
20 |
1565 |
c
|
INT492 |
Intellectual Developmental Disorder, X-Linked 2 |
20 |
1566 |
c
|
DVL142 |
Developmental and Epileptic Encephalopathy 107 |
19 |
1567 |
c
|
INT440 |
Intellectual Developmental Disorder, X-Linked 105 |
19 |
1568 |
c
|
INT433 |
Intellectual Developmental Disorder, X-Linked 101 |
19 |
1569 |
P
|
PTT054 |
Patterned Macular Dystrophy |
19 |
1570 |
c
|
INT494 |
Intellectual Developmental Disorder, X-Linked 46 |
18 |
1571 |
c
|
INT432 |
Intellectual Developmental Disorder, X-Linked 100 |
17 |
1572 |
c
|
INT485 |
Intellectual Developmental Disorder, X-Linked 23 |
17 |
1573 |
c
|
INT490 |
Intellectual Developmental Disorder, X-Linked 73 |
16 |
1574 |
c
|
INT487 |
Intellectual Developmental Disorder, X-Linked 14 |
15 |
1575 |
c
|
INT499 |
Intellectual Developmental Disorder, X-Linked 95 |
15 |
1576 |
c
|
INT495 |
Intellectual Developmental Disorder, X-Linked 77 |
15 |
1577 |
c
|
INT489 |
Intellectual Developmental Disorder, X-Linked 53 |
14 |
1578 |
c
|
INT497 |
Intellectual Developmental Disorder, X-Linked 84 |
14 |
1579 |
c
|
INT486 |
Intellectual Developmental Disorder, X-Linked 20 |
14 |
1580 |
c
|
DVL148 |
Developmental and Epileptic Encephalopathy 108 |
13 |
1581 |
c
|
INT493 |
Intellectual Developmental Disorder, X-Linked 81 |
13 |
1582 |
|
HYP499 |
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome |
13 |
1583 |
c
|
GRN068 |
Grin2d-Related Developmental and Epileptic Encephalopathy |
11 |
1584 |
c
|
DVL151 |
Developmental and Epileptic Encephalopathy 110 |
11 |
1585 |
c
|
DVL150 |
Developmental and Epileptic Encephalopathy 109 |
10 |
1586 |
c
|
INT491 |
Intellectual Developmental Disorder, X-Linked 42 |
10 |
1587 |
|
END081 |
Endosteal Hyperostosis, Autosomal Dominant |
62 |
1588 |
|
PPL049 |
Papillon-Lefevre Syndrome |
70 |
1589 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
68 |
1590 |
|
SCH016 |
Schimke Immunoosseous Dysplasia |
61 |
1591 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
59 |
1592 |
|
CHR003 |
Cherubism |
58 |
1593 |
P
|
BND018 |
Band Heterotopia |
55 |
1594 |
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
52 |
1595 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
51 |
1596 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
50 |
1597 |
|
TYL002 |
Tylosis with Esophageal Cancer |
46 |
1598 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
46 |
1599 |
|
WTK002 |
Witkop Syndrome |
44 |
1600 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
43 |
1601 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
42 |
1602 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
40 |
1603 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
1604 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
33 |
1605 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
1606 |
|
CRN200 |
Craniosynostosis and Dental Anomalies |
27 |
1607 |
|
FCL046 |
Focal Facial Dermal Dysplasia 4 |
25 |
1608 |
|
TTR024 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities |
25 |
1609 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1610 |
|
STR032 |
Steroid Dehydrogenase Deficiency Dental Anomalies |
16 |
1611 |
c
|
FML049 |
Familial Band Heterotopia |
4 |
1612 |
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
74 |
1613 |
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
70 |
1614 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
70 |
1615 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
67 |
1616 |
c
|
MCP047 |
Mucopolysaccharidosis, Type Iva |
65 |
1617 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
65 |
1618 |
c
|
MCP043 |
Mucopolysaccharidosis, Type Iiia |
64 |
1619 |
|
HYP052 |
Hyperkalemic Periodic Paralysis |
63 |
1620 |
c
|
MCP044 |
Mucopolysaccharidosis, Type Iiib |
62 |
1621 |
c
|
MCP004 |
Mucopolysaccharidosis Iv |
61 |
1622 |
c
|
MCP045 |
Mucopolysaccharidosis, Type Iiic |
61 |
1623 |
c
|
MCP048 |
Mucopolysaccharidosis, Type Ivb |
56 |
1624 |
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
55 |
1625 |
|
SCH038 |
Schopf-Schulz-Passarge Syndrome |
51 |
1626 |
|
NNC002 |
Nance-Horan Syndrome |
48 |
1627 |
P
|
HML047 |
Heimler Syndrome 1 |
46 |
1628 |
|
MND025 |
Mandibulofacial Dysostosis with Alopecia |
43 |
1629 |
c
|
MCP051 |
Mucopolysaccharidosis, Type Ix |
42 |
1630 |
c
|
EHL081 |
Ehlers-Danlos Syndrome, Classic-Like |
41 |
1631 |
|
CTL005 |
Catel-Manzke Syndrome |
38 |
1632 |
|
OCL033 |
Oculocerebral Syndrome with Hypopigmentation |
35 |
1633 |
|
LMB008 |
Limb-Mammary Syndrome |
35 |
1634 |
c
|
HML046 |
Heimler Syndrome 2 |
33 |
1635 |
|
MNT118 |
Mental Retardation, Anterior Maxillary Protrusion, and Strabismus |
28 |
1636 |
c
|
MCP055 |
Mucopolysaccharidosis, Type X |
26 |
1637 |
|
ADL002 |
Adult Syndrome |
68 |
1638 |
|
ECT070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
64 |
1639 |
|
TMT002 |
Temtamy Preaxial Brachydactyly Syndrome |
51 |
1640 |
c
|
MND002 |
Mandibuloacral Dysplasia with Type B Lipodystrophy |
38 |