Oral Diseases Category (1640 diseases)


Including: Teeth, Tongue, Throat, Pharynx, Jaw, Larynx, Oral Cavity
See other categories (disease lists)

# 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



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