Rare Diseases Category (12897 diseases)


Including: rare
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# Family MCID Name MIFTS
1 INC002 Inclusion Body Myositis 66
2 SCH036 Scheie Syndrome 69
3 SCH068 Schwartz-Jampel Syndrome, Type 1 55
4 IGG007 Igg4-Related Disease 47
5 HMF006 Hemifacial Microsomia 58
6 ABT001 Abetalipoproteinemia 67
7 P PRG013 Paraganglioma 58
8 c PRG018 Paragangliomas 1 55
9 JBR006 Joubert Syndrome with Oculorenal Anomalies 42
10 c NNS018 Nonsyndromic Paraganglioma 28
11 P GLL022 Guillain-Barre Syndrome 63
12 CRD002 Cri-Du-Chat Syndrome 50
13 c GLL037 Guillain-Barre Syndrome, Familial 33
14 CHR629 Charcot-Marie-Tooth Disease and Deafness 47
15 CNN003 Conn's Syndrome 73
16 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 43
17 NRM019 Neuraminidase Deficiency 60
18 FNC009 Fanconi-Bickel Syndrome 55
19 OPS006 Opsoclonus-Myoclonus Syndrome 51
20 P MRR011 Mirror Movements 1 42
21 c MRR010 Mirror Movements 2 15
22 c MRR012 Mirror Movements 3 14
23 P EPS003 Episodic Ataxia 57
24 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
25 c EPS042 Episodic Ataxia, Type 1 52
26 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 47
27 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
28 CRT072 Creutzfeldt-Jakob Disease 66
29 RBR001 Roberts Syndrome 60
30 WLF002 Wolf-Hirschhorn Syndrome 53
31 CHR635 Chromosome 5q Deletion Syndrome 51
32 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 46
33 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
34 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
35 BRK012 Broken Heart Syndrome 34
36 ERL046 Early-Onset Generalized Dystonia 34
37 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
38 c CWD006 Cowden Syndrome 1 71
39 P INT143 Interstitial Cystitis 66
40 P DYS193 Dystonia 11, Myoclonic 54
41 CRN295 Carnitine Palmitoyltransferase I Deficiency 53
42 c CHR020 Chronic Interstitial Cystitis 35
43 c CWD008 Cowden Syndrome 6 25
44 c CWD004 Cowden Syndrome 5 24
45 c CWD009 Cowden Syndrome 7 21
46 c CWD005 Cowden Syndrome 4 20
47 c DYS175 Dystonia 26, Myoclonic 18
48 c DYS058 Dystonia 15, Myoclonic 17
49 P OPT048 Opitz-Gbbb Syndrome 50
50 c OPT051 Opitz Gbbb Syndrome, Type I 47
51 P CHN059 Chondrocalcinosis 47
52 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
53 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
54 P LYD011 Leydig Cell Hypoplasia 37
55 c PGT007 Paget Disease of Bone 3 36
56 c CHN022 Chondrocalcinosis 2 33
57 c LYD012 Leydig Cell Hypoplasia, Type I 32
58 FBR064 Febrile Infection-Related Epilepsy Syndrome 30
59 c PGT009 Paget Disease of Bone 2, Early-Onset 26
60 c PGT011 Paget Disease of Bone 6 21
61 c PGT006 Paget Disease of Bone 4 18
62 PCD002 Pcdh19-Related Female-Limited Epilepsy 17
63 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 14
64 P ALP009 Alopecia Areata 64
65 LPT001 Leptospirosis 62
66 DGR001 Digeorge Syndrome 62
67 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60
68 MLT163 Multiple Pterygium Syndrome, Escobar Variant 53
69 SCR020 Sacral Defect with Anterior Meningocele 46
70 MLG120 Malignant Migrating Partial Seizures of Infancy 36
71 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 30
72 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 30
73 MCL079 Macular Telangiectasia Type 2 29
74 PRX096 Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum 24
75 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 22
76 c ALP039 Alopecia Areata 1 22
77 c ALP040 Alopecia Areata 2 21
78 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
79 P PLM037 Pulmonary Hypertension 77
80 c PLM164 Pulmonary Hypertension, Primary, 1 74
81 WVR001 Weaver Syndrome 54
82 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 53
83 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
84 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 21
85 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 19
86 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 19
87 KRN002 Kearns-Sayre Syndrome 61
88 JCB001 Jacobsen Syndrome 54
89 DYS192 Dystonia, Dopa-Responsive 53
90 P THR117 Three M Syndrome 1 52
91 JJN004 Jejunal Atresia 37
92 TRP006 Tarp Syndrome 34
93 c CNG418 Congenital Intrauterine Infection-Like Syndrome 27
94 ATY012 Atypical Mycobacteriosis, Familial 24
95 SSR001 Ssr4-Cdg 22
96 c THR096 Three M Syndrome 3 21
97 c THR069 Three M Syndrome 2 19
98 XLN216 X-Linked Dystonia-Parkinsonism/lubag 18
99 HYP171 Hyperphenylalaninemia Due to Dehydratase Deficiency 18
100 CHR555 Chromosome 3p- Syndrome 14
101 CRN057 Carnitine Palmitoyltransferase I Deficiency , Muscle 13
102 P ADL010 Adult Respiratory Distress Syndrome 62
103 c ACT210 Acute Respiratory Distress Syndrome 62
104 WLK001 Walker-Warburg Syndrome 60
105 P INT099 Intrahepatic Cholestasis of Pregnancy 60
106 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
107 P HYP097 Hyperekplexia 58
108 LKN001 Leukoencephalopathy with Vanishing White Matter 57
109 LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 55
110 P CRN038 Carney Complex Variant 55
111 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 48
112 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
113 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 45
114 c CRN243 Carney Complex, Type 1 43
115 47X002 47,xyy 40
116 GNT020 Giant Congenital Nevus 37
117 SCR037 Sucrase-Isomaltase Deficiency, Congenital 36
118 BST007 Best Vitelliform Macular Dystrophy 36
119 c PRK085 Parkinson Disease 1, Autosomal Dominant 35
120 c HYP699 Hyperekplexia 1 32
121 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 26
122 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
123 c HYP510 Hyperekplexia 2 21
124 BLP010 Blepharophimosis Intellectual Disability Syndromes 20
125 c HYP825 Hyperekplexia 4 20
126 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 18
127 c CRN298 Carney Complex, Type 2 17
128 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 16
129 LGH007 Leigh Syndrome 69
130 GLC006 Galactosemia 66
131 MSM014 Mismatch Repair Cancer Syndrome 63
132 DRR016 Diarrhea 2, with Microvillus Atrophy 55
133 CNV004 Canavan Disease 55
134 P TWN003 Townes-Brocks Syndrome 55
135 CHR594 Chromosome 3q29 Deletion Syndrome 47
136 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 43
137 GRN013 Greenberg Dysplasia 36
138 c TWN011 Townes-Brocks Syndrome 1 28
139 GGN004 Gigantomastia 24
140 PRP083 Porphyria, Acute Intermittent 64
141 PRP001 Propionic Acidemia 63
142 MCR013 Microphthalmia 62
143 MBS002 Moebius Syndrome 57
144 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 56
145 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
146 PPL049 Papillon-Lefevre Syndrome 55
147 P MGL001 Megaloblastic Anemia 54
148 PGM001 Pigmented Villonodular Synovitis 54
149 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
150 P SJG002 Sjogren-Larsson Syndrome 53
151 BLL003 Bell's Palsy 52
152 RCR004 Recurrent Respiratory Papillomatosis 50
153 c MGL018 Megaloblastic Anemia 1 47
154 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 46
155 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 39
156 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 38
157 NCR001 Necrotizing Ulcerative Gingivitis 36
158 PLL005 Pallister-Killian Mosaic Syndrome 25
159 TMF001 Tumefactive Multiple Sclerosis 22
160 XLN215 X-Linked Congenital Generalized Hypertrichosis 21
161 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
162 CRD019 Cardiocranial Syndrome 12
163 OPH015 Ophn1 Syndrome 12
164 P MTC003 Metachromatic Leukodystrophy 70
165 P AMY004 Amyloidosis 68
166 PRT036 Peritonitis 66
167 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 63
168 P HYP724 Hyperlipoproteinemia, Type Iii 62
169 CNT105 Central Core Disease of Muscle 62
170 c ALM001 Al Amyloidosis 60
171 HLT001 Holt-Oram Syndrome 60
172 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
173 FLR001 Filarial Elephantiasis 55
174 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
175 GRS011 Gerstmann-Straussler Disease 51
176 c HYP740 Hyperlipoproteinemia, Type V 49
177 P NML001 Nemaline Myopathy 48
178 PST048 Postural Orthostatic Tachycardia Syndrome 46
179 c NML003 Nemaline Myopathy 2 45
180 GLC011 Galactose Epimerase Deficiency 45
181 c NML002 Nemaline Myopathy 1 44
182 c HYP768 Hyperlipoproteinemia, Type I 44
183 c NML005 Nemaline Myopathy 4 42
184 c NML004 Nemaline Myopathy 3 42
185 CHR174 Christianson Syndrome 40
186 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 34
187 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 34
188 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 33
189 MHR002 Mohr Syndrome 32
190 VRT007 Vertical Talus, Congenital 31
191 c PRV019 Periventricular Nodular Heterotopia 1 31
192 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
193 ISD002 Isodicentric Chromosome 15 Syndrome 29
194 c MYP081 Myopathy, Myofibrillar, 6 28
195 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
196 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
197 P SCP010 Scapuloperoneal Myopathy 28
198 STB002 Satb2-Associated Syndrome 27
199 CHR524 Chromosome 16p13.3 Duplication Syndrome 26
200 MLL009 Mullerian Aplasia 26
201 CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 26
202 c NML022 Nemaline Myopathy 10 25
203 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
204 c NML025 Nemaline Myopathy 8 23
205 c NML007 Nemaline Myopathy 6 23
206 c PRV018 Periventricular Nodular Heterotopia 7 22
207 c NML010 Nemaline Myopathy 7 22
208 c NML021 Nemaline Myopathy 9 21
209 c PRV016 Periventricular Nodular Heterotopia 6 21
210 c HYP819 Hyperlipoproteinemia, Type Id 20
211 c FLN007 Flna-Related Periventricular Nodular Heterotopia 20
212 c PRM150 Primary Localized Amyloidosis 20
213 2MT001 2-Methyl-3-Hydroxybutyric Aciduria 20
214 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 19
215 c AHM002 Ah Amyloidosis 18
216 P MCH002 Machado-Joseph Disease 64
217 P EPN002 Ependymoma 56
218 c BNG030 Benign Ependymoma 50
219 BZX001 Bazex Syndrome 46
220 BLC001 Blue Cone Monochromacy 45
221 PST049 Postaxial Acrofacial Dysostosis 44
222 P DNT009 Dentin Dysplasia 41
223 c MLG064 Malignant Ependymoma 40
224 c DNT027 Dentin Dysplasia, Type Ii 38
225 CRY032 Carey-Fineman-Ziter Syndrome 38
226 c MLG023 Malignant Adult Ependymoma 20
227 c MCH014 Machado-Joseph Disease Type 2 9
228 c MCH013 Machado-Joseph Disease Type 3 9
229 c MCH012 Machado-Joseph Disease Type 1 9
230 TKY002 Takayasu Arteritis 67
231 MCC012 Mccune-Albright Syndrome 66
232 P CRB048 Cerebral Cavernous Malformations 63
233 P CRD132 Cardiac Conduction Defect 62
234 BLS001 Blau Syndrome 60
235 FCT002 Factor Xi Deficiency 58
236 DNT005 Dentatorubral-Pallidoluysian Atrophy 52
237 c CRB191 Cerebral Cavernous Malformations 2 51
238 HRP009 Herpes Simplex Encephalitis 50
239 TTZ003 Tietz Albinism-Deafness Syndrome 50
240 LCH011 Lichen Planopilaris 50
241 P OTS002 Otospondylomegaepiphyseal Dysplasia 46
242 c PNC128 Pain - Chronic 46
243 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 45
244 P BRC015 Bruck Syndrome 45
245 RSS026 Roussy-Levy Hereditary Areflexic Dystasia 45
246 KDS001 Kid Syndrome 44
247 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43
248 c HYP794 Hyperoxaluria, Primary, Type I 42
249 c CRB094 Cerebral Cavernous Malformations 3 41
250 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 36
251 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 32
252 CNG064 Congenital Chloride Diarrhea 32
253 c FML250 Familial Progressive Cardiac Conduction Defect 31
254 FRS007 Frias Syndrome 29
255 c CNT068 Central Pain Syndrome 29
256 PLM049 Plummer Vinson Syndrome 29
257 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 28
258 c BRC047 Bruck Syndrome 1 27
259 PHS010 Phosphoglycerate Mutase Deficiency 26
260 c ALB017 Albinism, Oculocutaneous, Type Vi 26
261 GNT018 Gianotti Crosti Syndrome 26
262 NCR015 Necrotizing Autoimmune Myopathy 24
263 NVD003 Nevoid Hypermelanosis, Linear and Whorled 24
264 PLM069 Pulmonary Venous Return Anomaly 23
265 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 22
266 MYC001 Myoclonic Cerebellar Dyssynergia 22
267 c CRB051 Cerebral Cavernous Malformation, Familial 20
268 DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 20
269 ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 18
270 ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 18
271 SCT004 Scott Bryant Graham Syndrome 17
272 MCR265 Macrozoospermia 15
273 CHR554 Chromosome 17q11.2 Deletion Syndrome 13
274 CDC005 Cad-Cdg 7
275 CRH001 Crohn's Disease 77
276 c MLT160 Multiple Endocrine Neoplasia, Type Iia 66
277 STF001 Stiff-Person Syndrome 65
278 MST024 Mastocytosis, Cutaneous 64
279 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 60
280 ACR008 Acrocallosal Syndrome 58
281 P MLT074 Multiple Endocrine Neoplasia 57
282 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 56
283 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 52
284 P NLD001 Nail Disease 51
285 P FML035 Familial Hyperlipidemia 51
286 ADN001 Adenosine Deaminase Deficiency 48
287 TLR001 Tularemia 48
288 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
289 P BLP047 Blepharocheilodontic Syndrome 1 45
290 P AMY084 Amyloidosis, Finnish Type 45
291 c ANT077 Anterior Segment Dysgenesis 1 44
292 c EPP014 Epiphyseal Dysplasia, Multiple, 4 40
293 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 40
294 c MLG147 Malignant Hyperthermia 1 40
295 KKC001 Kikuchi Disease 38
296 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 37
297 CRY001 Cryptogenic Organizing Pneumonia 36
298 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 36
299 CHL109 Childhood Apraxia of Speech 36
300 ATX019 Ataxia with Vitamin E Deficiency 34
301 CRN141 Corneal Dystrophy, Reis-Bucklers Type 34
302 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 33
303 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
304 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 33
305 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
306 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 30
307 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
308 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
309 c ANT084 Anterior Segment Dysgenesis 3 28
310 MNT006 Manitoba Oculotrichoanal Syndrome 27
311 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
312 PNT003 Pinta Disease 27
313 c ANT085 Anterior Segment Dysgenesis 5 25
314 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
315 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 25
316 c ANT083 Anterior Segment Dysgenesis 7 25
317 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 25
318 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 24
319 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
320 ART037 Arthrogryposis and Ectodermal Dysplasia 24
321 7Q1002 7q11.23 Duplication Syndrome 23
322 c FML249 Familial Amyloidosis, Finnish Type 22
323 IMM096 Immunodeficiency 30 22
324 c HYP163 Hyperlipidemia Type 3 22
325 c BLP049 Blepharocheilodontic Syndrome 2 20
326 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 19
327 c EPP026 Epiphyseal Dysplasia, Multiple, 7 19
328 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 19
329 c ANT067 Anterior Segment Dysgenesis 8 18
330 c ANT087 Anterior Segment Dysgenesis 6 18
331 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
332 HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 17
333 FBX003 Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome 13
334 MTH067 Methylmalonic Acidemia with Homocystinuria Type Cblj 9
335 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 57
336 ARS001 Aarskog-Scott Syndrome 56
337 P CMR001 Camurati-Engelmann Disease 56
338 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 53
339 DYS022 Dyschromatosis Symmetrica Hereditaria 51
340 P PLM006 Pulmonary Alveolar Proteinosis 50
341 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 50
342 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 41
343 GRD009 Gordon Holmes Syndrome 39
344 ISC016 Ischiocoxopodopatellar Syndrome 36
345 CHN057 Chondrodysplasia, Grebe Type 36
346 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 36
347 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 36
348 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 34
349 SLT005 Solitary Median Maxillary Central Incisor 32
350 INS024 Insulin-Like Growth Factor I 76
351 P AGM019 Agammaglobulinemia, X-Linked 73
352 SND001 Sandhoff Disease 66
353 P KLL001 Kallmann Syndrome 64
354 BLM001 Bloom Syndrome 64
355 WLF001 Wolff-Parkinson-White Syndrome 63
356 CHK001 Chikungunya 61
357 RHB001 Rhabdoid Cancer 60
358 ALK013 Alkaptonuria 58
359 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 57
360 c USH036 Usher Syndrome, Type I 57
361 HYP691 Hypomelanosis of Ito 57
362 WST001 West Syndrome 57
363 BRT002 Birt-Hogg-Dube Syndrome 56
364 c MYT020 Myotonic Dystrophy 2 55
365 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
366 LKC005 Leukocyte Adhesion Deficiency, Type Iii 54
367 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 53
368 HPT025 Hepatic Lipase Deficiency 52
369 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
370 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
371 P PRM001 Primary Cutaneous Amyloidosis 51
372 P TRC086 Trichohepatoenteric Syndrome 1 51
373 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
374 MLT113 Multicentric Castleman Disease 50
375 FSH001 Fish-Eye Disease 50
376 P SMP003 Simpson-Golabi-Behmel Syndrome 50
377 BRD025 Birdshot Chorioretinopathy 50
378 ICH054 Ichthyosis, X-Linked 50
379 P PRX021 Proximal Symphalangism 49
380 KRT010 Kartagener Syndrome 48
381 P NNT009 Neonatal Diabetes Mellitus 47
382 UNV001 Unverricht-Lundborg Syndrome 47
383 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
384 c USH039 Usher Syndrome, Type Ic 46
385 P MLT072 Multiple Synostoses Syndrome 46
386 GLC004 Galactokinase Deficiency 45
387 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
388 HTR003 Heterotaxy 44
389 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 43
390 PST020 Postpoliomyelitis Syndrome 43
391 c USH040 Usher Syndrome, Type Id 42
392 c USH020 Usher Syndrome, Type Iic 41
393 P KLN006 Koolen-De Vries Syndrome 41
394 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
395 STV003 Stuve-Wiedemann Syndrome 40
396 CRN247 Corneal Dystrophy, Thiel-Behnke Type 40
397 PRM057 Paramyotonia Congenita of Von Eulenburg 40
398 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
399 c ANT071 Anterior Segment Dysgenesis 4 39
400 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 38
401 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 37
402 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 36
403 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 34
404 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 34
405 OCL034 Oculocerebrocutaneous Syndrome 33
406 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
407 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
408 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
409 RCH002 Richards-Rundle Syndrome 30
410 c CNG133 Congenital Varicella Syndrome 29
411 c MLT059 Multiple Synostoses Syndrome 1 28
412 c SYM022 Symphalangism, Proximal, 1a 28
413 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
414 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
415 HYP180 Hypertrichosis Lanuginosa Congenita 26
416 GRD004 Gardner-Diamond Syndrome 26
417 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26
418 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
419 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
420 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
421 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
422 SHP004 Shprintzen Omphalocele Syndrome 22
423 XLN162 X-Linked Intellectual Disability, Najm Type 22
424 c TRC078 Trichohepatoenteric Syndrome 2 22
425 LMB014 Limb-Body Wall Complex 22
426 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 21
427 CHR416 Chromosome 17q Deletion 19
428 ACT160 Actinic Lichen Planus 19
429 c MLT166 Multiple Synostoses Syndrome 4 17
430 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
431 c SYM019 Symphalangism, Proximal, 1b 17
432 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
433 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 16
434 17Q011 17q12 Duplication 15
435 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
436 FRL002 Froelich Syndrome 14
437 PGM026 Pgm3-Cdg 10
438 P VRC007 Varicella, Severe Recurrent 10
439 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
440 c MYT021 Myotonic Dystrophy 1 70
441 P HYD006 Hydrocephalus 66
442 HSH003 Hashimoto Thyroiditis 65
443 P LBR001 Leber Congenital Amaurosis 65
444 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
445 P CNR004 Cone-Rod Dystrophy 2 63
446 c LBR014 Leber Congenital Amaurosis 4 63
447 PTT048 Pituitary Adenoma, Prolactin-Secreting 62
448 CLS005 Clouston Syndrome 62
449 P MLG056 Malignant Hyperthermia 62
450 c HRD002 Hereditary Angioedema 62
451 P FCL005 Focal Segmental Glomerulosclerosis 60
452 P PLY006 Polydactyly 59
453 ERY003 Erythema Multiforme 58
454 c ALB021 Albinism, Oculocutaneous, Type Ii 57
455 FTL009 Fetal Akinesia Deformation Sequence 56
456 c FCL025 Focal Segmental Glomerulosclerosis 1 55
457 CTR172 Citrullinemia, Classic 55
458 NLP001 Nail-Patella Syndrome 55
459 c LYS021 Loeys-Dietz Syndrome 3 54
460 PRN011 Pernicious Anemia 53
461 c ALB009 Albinism, Oculocutaneous, Type Ia 53
462 P ACQ022 Acquired Generalized Lipodystrophy 53
463 c FBR084 Fibromatosis, Gingival, 1 53
464 CRN239 Carnitine Deficiency, Systemic Primary 52
465 P GNG025 Gingival Fibromatosis 52
466 BTY001 Butyrylcholinesterase Deficiency 52
467 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
468 OST022 Osteopathia Striata with Cranial Sclerosis 49
469 c CHR037 Chronic Eosinophilic Pneumonia 49
470 c CNG012 Congenital Generalized Lipodystrophy 48
471 c ANG068 Angioedema, Hereditary, Type I 48
472 MTH078 Methylmalonic Aciduria, Cblb Type 47
473 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
474 c LBR012 Leber Congenital Amaurosis 2 46
475 c HYD064 Hydrocephalus, Congenital, 1 46
476 BLS007 Blastic Plasmacytoid Dendritic Cell 46
477 c LBR004 Leber Congenital Amaurosis 1 46
478 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 43
479 c LBR019 Leber Congenital Amaurosis 9 40
480 TRP009 Triple X Syndrome 40
481 DFF021 Diffuse Mesangial Sclerosis 40
482 CRN237 Corneal Dystrophy, Avellino Type 40
483 P BLN001 Blount's Disease 39
484 DNS007 Dense Deposit Disease 39
485 GNC003 Geniculate Herpes Zoster 38
486 c MCL060 Macular Dystrophy, Vitelliform, 3 38
487 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
488 c CNR016 Cone-Rod Dystrophy 7 38
489 P VTL001 Vitelliform Macular Dystrophy 38
490 c MCL066 Macular Dystrophy, Vitelliform, 2 37
491 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 37
492 c BRT038 Baraitser-Winter Syndrome 1 37
493 PHC004 Phace Syndrome 36
494 c CNR017 Cone-Rod Dystrophy 9 36
495 c LBR007 Leber Congenital Amaurosis 12 35
496 P BRT040 Baraitser-Winter Syndrome 35
497 P PRS013 Prosopagnosia 35
498 SPS016 Spasmodic Dysphonia 35
499 RSP007 Respiratory Distress Syndrome, Infant 35
500 c LBR011 Leber Congenital Amaurosis 16 34
501 ATM061 Autoimmune Polyglandular Syndrome Type 3 33
502 MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 33
503 c CNR013 Cone-Rod Dystrophy 12 32
504 GMZ002 Gomez-Lopez-Hernandez Syndrome 32
505 c LBR005 Leber Congenital Amaurosis 10 31
506 c LBR018 Leber Congenital Amaurosis 8 31
507 DSS025 Dissociative Seizures 31
508 c LBR013 Leber Congenital Amaurosis 3 30
509 c LBR016 Leber Congenital Amaurosis 6 30
510 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
511 c CNR014 Cone-Rod Dystrophy 16 30
512 MTH077 Methylmalonic Aciduria, Cbla Type 29
513 c BRT039 Baraitser-Winter Syndrome 2 28
514 CHR209 Chromosome 17p Duplication 28
515 c LBR015 Leber Congenital Amaurosis 5 28
516 WGN003 Wagner Syndrome 28
517 c LBR009 Leber Congenital Amaurosis 14 27
518 ADN077 Adenosine Deaminase 2 Deficiency 27
519 CHR523 Chromosome 15q11.2 Deletion Syndrome 26
520 WYB001 Wyburn Mason's Syndrome 26
521 DTH005 Diethylstilbestrol Syndrome 26
522 c ICH014 Ichthyosis Lamellar 1 25
523 c LBR008 Leber Congenital Amaurosis 13 25
524 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 24
525 c CNR032 Cone-Rod Dystrophy 21 24
526 c FCL043 Focal Segmental Glomerulosclerosis 6 23
527 GLT014 Glutathionuria 23
528 c LBR010 Leber Congenital Amaurosis 15 23
529 CDK006 Cdkl5 Deficiency Disorder 23
530 c PRS058 Prosopagnosia, Hereditary 22
531 c CNR021 Cone-Rod Dystrophy 10 22
532 c CNR026 Cone-Rod Dystrophy 18 22
533 c LBR029 Leber Congenital Amaurosis 17 22
534 c CNR025 Cone-Rod Dystrophy 15 22
535 c CNR012 Cone-Rod Dystrophy 11 22
536 c CNR024 Cone-Rod Dystrophy 13 22
537 c FCL082 Focal Segmental Glomerulosclerosis 4 22
538 c FCL027 Focal Segmental Glomerulosclerosis 3 20
539 c CNR030 Cone-Rod Dystrophy 20 20
540 c FCL026 Focal Segmental Glomerulosclerosis 2 20
541 c HYD042 Hydrocephalus, Autosomal Dominant 20
542 c FCL085 Focal Segmental Glomerulosclerosis 7 20
543 5Q1001 5q14.3 Microdeletion Syndrome 20
544 c MCL061 Macular Dystrophy, Vitelliform, 4 19
545 c LBR017 Leber Congenital Amaurosis 7 19
546 c MCL056 Macular Dystrophy, Vitelliform, 5 19
547 c FCL028 Focal Segmental Glomerulosclerosis 5 19
548 c LBR006 Leber Congenital Amaurosis 11 18
549 OMP007 Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex 18
550 c CNR029 Cone-Rod Dystrophy 19 18
551 CMP017 Camptocormism 16
552 c BLN020 Blount Disease, Infantile 16
553 c CNT108 Central Polydactyly 16
554 c FBR092 Fibromatosis, Gingival, 5 15
555 SCN063 Scn2a Related Disorders 11
556 NFK002 Nf-Kappa B Essential Modulator Deficiency 7
557 CNT097 Central Hypoventilation Syndrome, Congenital 66
558 P ACH003 Achromatopsia 59
559 MCK005 Mckusick-Kaufman Syndrome 54
560 DNY001 Denys-Drash Syndrome 54
561 FRY006 Fryns Microphthalmia Syndrome 53
562 c LSS005 Lissencephaly 1 53
563 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
564 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 50
565 VPM001 Vipoma 48
566 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 48
567 KMR001 Kimura Disease 47
568 c LKD019 Leukodystrophy, Hypomyelinating, 6 46
569 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
570 c ACH020 Achromatopsia 2 45
571 GLC022 Glucose/galactose Malabsorption 44
572 LPM010 Lipomatosis, Multiple Symmetric 43
573 P MRN003 Marinesco-Sjogren Syndrome 41
574 LRN006 Laurin-Sandrow Syndrome 40
575 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
576 MLG141 Malignant Atrophic Papulosis 38
577 ALV006 Alveolar Capillary Dysplasia 36
578 BJR001 Bjornstad Syndrome 36
579 c DNT051 Dentin Dysplasia, Type I 33
580 c ACH023 Achromatopsia 4 32
581 SCL022 Scleredema 31
582 INT088 Intrinsic Factor Deficiency 31
583 MSM016 Mesomelic Dysplasia, Kantaputra Type 30
584 c LSS010 Lissencephaly 4 29
585 BLN004 Balantidiasis 27
586 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
587 BLP041 Blepharochalasis and Double Lip 26
588 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
589 PRF003 Piriformis Syndrome 26
590 SHP003 Shapiro Syndrome 26
591 c LSS025 Lissencephaly 5 25
592 c LKD016 Leukodystrophy, Hypomyelinating, 9 25
593 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
594 c LKD023 Leukodystrophy, Hypomyelinating, 12 24
595 c LKD021 Leukodystrophy, Hypomyelinating, 11 24
596 c LSS009 Lissencephaly 3 23
597 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
598 c LSS035 Lissencephaly 8 23
599 c ACH038 Achromatopsia 7 22
600 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
601 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
602 ACR006 Aceruloplasminemia 70
603 P TMP003 Temporal Arteritis 69
604 P FRD012 Friedreich Ataxia 1 67
605 BRC012 Brucellosis 66
606 AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65
607 BLL006 Bullous Pemphigoid 65
608 MNK001 Menkes Disease 64
609 c EPL209 Epilepsy, Idiopathic Generalized 10 64
610 P HML002 Hemolytic Anemia 63
611 ANG054 Angina Pectoris 62
612 P EPL140 Epilepsy, Idiopathic Generalized 62
613 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 62
614 c ANM038 Anemia, Autoimmune Hemolytic 61
615 BRG013 Buerger Disease 61
616 NRL005 Neurilemmoma 61
617 P USH001 Usher Syndrome 59
618 P NRC002 Narcolepsy 59
619 DBN001 Dubin-Johnson Syndrome 58
620 LMB002 Lambert-Eaton Myasthenic Syndrome 58
621 ALS001 Alstrom Syndrome 55
622 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 53
623 RTN209 Retinoschisis 1, X-Linked, Juvenile 53
624 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 52
625 SHH001 Sheehan Syndrome 51
626 PRX015 Paroxysmal Extreme Pain Disorder 50
627 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
628 ENC055 Encephalopathy, Ethylmalonic 48
629 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
630 MDL009 Medullary Sponge Kidney 48
631 c NRC009 Narcolepsy 1 47
632 ALP077 Alpha-Methylacetoacetic Aciduria 47
633 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
634 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
635 ACR013 Acrodysostosis 46
636 OPT054 Opitz-Kaveggia Syndrome 46
637 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 46
638 DNR002 Duane-Radial Ray Syndrome 46
639 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 45
640 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 45
641 c OTP007 Otopalatodigital Syndrome, Type Ii 45
642 BRT059 Bartsocas-Papas Syndrome 44
643 IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 43
644 c OTP006 Otopalatodigital Syndrome, Type I 40
645 ACT055 Actinomycosis 40
646 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
647 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 37
648 LCL022 Localized Lipodystrophy 37
649 c NRC010 Narcolepsy 2 37
650 c ATS076 Autosomal Recessive Stickler Syndrome 36
651 GRN022 Granulosa Cell Tumor of the Ovary 36
652 MTH064 Methemoglobinemia, Beta-Globin Type 36
653 WDH001 Wdha Syndrome 35
654 DNC004 Diencephalic Syndrome 35
655 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
656 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 35
657 c STC015 Stickler Syndrome, Type I 34
658 GRC001 Gracile Syndrome 34
659 c NML006 Nemaline Myopathy 5 34
660 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
661 PPC001 Pepck 1 Deficiency 34
662 HMF010 Hemifacial Microsomia with Radial Defects 33
663 c HYP602 Hyperoxaluria, Primary, Type Ii 33
664 AMY098 Amyotrophy, Monomelic 33
665 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 33
666 P ATL001 Atelosteogenesis 33
667 PRT055 Prieto X-Linked Mental Retardation Syndrome 33
668 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
669 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32
670 PNT005 Pentalogy of Cantrell 32
671 P SNG014 Singleton-Merten Syndrome 31
672 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 30
673 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 30
674 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
675 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
676 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 30
677 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
678 c ATL015 Atelosteogenesis, Type Ii 30
679 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
680 LGH003 Leigh Syndrome, French Canadian Type 29
681 SRN002 Sirenomelia 29
682 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29
683 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
684 SPR031 Sprengel Deformity 28
685 P TRC031 Trichorhinophalangeal Syndrome 28
686 PRX086 Paroxysmal Exertion-Induced Dyskinesia 28
687 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 28
688 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 28
689 CHR229 Chromosome 20p Duplication 27
690 c PLY149 Polydactyly, Preaxial Iv 27
691 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
692 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 27
693 c SNG011 Singleton-Merten Syndrome 1 27
694 VNF001 Vein of Galen Aneurysm 27
695 49X001 49, Xxxxx 26
696 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 26
697 INT277 Intellectual Disability-Developmental Delay-Contractures Syndrome 26
698 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 26
699 MCR067 Microcoria, Congenital 26
700 TTR013 Tetrasomy X 26
701 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
702 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 25
703 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 25
704 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
705 SRP002 Serpiginous Choroiditis 24
706 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 24
707 c FRD006 Friedreich Ataxia 2 24
708 c JVN019 Juvenile Temporal Arteritis 24
709 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
710 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 24
711 GBM001 Gaba Aminotransferase Deficiency 23
712 MTP004 Metaphyseal Acroscyphodysplasia 23
713 CHR212 Chromosome 18p Duplication 23
714 c NRC013 Narcolepsy 5 22
715 c APR009 Aprosencephaly Syndrome 22
716 c EPL093 Epilepsy, Idiopathic Generalized 7 22
717 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 22
718 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
719 c PLY136 Polydactyly, Preaxial I 21
720 c STC012 Stickler Syndrome, Type Iv 21
721 c EPL084 Epilepsy, Idiopathic Generalized 11 21
722 c STC011 Stickler Syndrome, Type V 20
723 LRB003 Lrba Deficiency 20
724 c EPL086 Epilepsy, Idiopathic Generalized 9 20
725 P MTC144 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 20
726 OCL016 Ocular Albinism, X-Linked 19
727 c NRC017 Narcolepsy 7 18
728 CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 18
729 c EPL098 Epilepsy, Idiopathic Generalized 12 18
730 c EPL165 Epilepsy, Idiopathic Generalized 14 18
731 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
732 c EPL205 Epilepsy, Idiopathic Generalized 13 17
733 c EPL091 Epilepsy, Idiopathic Generalized 3 17
734 TRS010 Trisomy 17 Mosaicism 17
735 c NRC011 Narcolepsy 3 17
736 WLF008 Wolffian Tumor 16
737 AQG003 Aquagenic Syringeal Acrokeratoderm 15
738 P OTP002 Otopalatodigital Spectrum Disorders 15
739 c GLT029 Glutaric Acidemia Type Iii 15
740 c EPL208 Epilepsy, Idiopathic Generalized 8 14
741 FRB005 Freiberg's Disease 14
742 CHR199 Chromosome 15q Duplication 14
743 P XKP001 Xk Aprosencephaly 13
744 c EPL089 Epilepsy, Idiopathic Generalized 4 13
745 CHR258 Chromosome 6q Duplication 12
746 c EPL090 Epilepsy, Idiopathic Generalized 5 12
747 c NRC012 Narcolepsy 4 12
748 c EPL092 Epilepsy, Idiopathic Generalized 2 11
749 c NRC018 Narcolepsy 6 11
750 TRN026 Tranebjaerg Svejgaard Syndrome 9
751 c SCL055 Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 7
752 c SCL054 Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 6
753 c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 65
754 FBR011 Fibrodysplasia Ossificans Progressiva 65
755 RCT015 Reactive Arthritis 64
756 PRC002 Paracoccidioidomycosis 61
757 FRC011 Fructose Intolerance, Hereditary 60
758 SPN060 Spondylocarpotarsal Synostosis Syndrome 60
759 FCL081 Focal Cortical Dysplasia, Type Ii 60
760 MYC079 Myoclonic Epilepsy of Lafora 59
761 P OVR049 Ovarian Disease 58
762 c ESS001 Essential Tremor 58
763 CHR619 Chromosome 2q35 Duplication Syndrome 58
764 MLK003 Melkersson-Rosenthal Syndrome 58
765 P ACT105 Acute Mountain Sickness 56
766 DBF001 D-Bifunctional Protein Deficiency 56
767 P JRV004 Jervell and Lange-Nielsen Syndrome 1 55
768 P TRM003 Tremor 55
769 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54
770 HYP052 Hyperkalemic Periodic Paralysis 54
771 PHL006 Phelan-Mcdermid Syndrome 54
772 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 54
773 P VND007 Van Der Woude Syndrome 1 54
774 AND020 Androgen Insensitivity, Partial 53
775 MLT145 Multiple Enchondromatosis, Maffucci Type 52
776 SMT003 Somatostatinoma 52
777 HNT002 Hantavirus Pulmonary Syndrome 52
778 PSD012 Pseudoachondroplasia 51
779 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 51
780 IDP035 Idiopathic Achalasia 50
781 IDP024 Idiopathic Inflammatory Myopathy 50
782 FCT004 Factor Xii Deficiency 50
783 c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 49
784 BRN003 Branchiooculofacial Syndrome 49
785 EPD015 Epidemic Typhus 48
786 P PRS049 Persistent Mullerian Duct Syndrome 47
787 c CHR546 Chronic Mountain Sickness 47
788 P LSS036 Lissencephaly, X-Linked, 1 47
789 NM001 Noma 46
790 PLN006 Poland Syndrome 45
791 P CPL003 Capillary Leak Syndrome 45
792 P GLT035 Glutaric Acidemia I 44
793 LTR003 Lateral Medullary Syndrome 43
794 IRN004 Iron-Refractory Iron Deficiency Anemia 42
795 TNG001 Tungiasis 42
796 c SYS007 Systemic Capillary Leak Syndrome 42
797 c GM1004 Gm1-Gangliosidosis, Type I 42
798 c SPL034 Split-Hand/foot Malformation 4 40
799 CHR518 Chromosome 9p Deletion Syndrome 40
800 ARM004 Aromatase Excess Syndrome 40
801 P CTR177 Citrullinemia, Type Ii, Adult-Onset 39
802 P JVN008 Juvenile Glaucoma 39
803 P ACR062 Acroosteolysis 38
804 c GLC083 Glaucoma 3, Primary Infantile, B 38
805 NNT024 Neonatal Stroke 38
806 CHL073 Cholestasis-Lymphedema Syndrome 38
807 ANR018 Anorchia 38
808 P NNT042 Neonatal Lupus Erythematosus 36
809 PSD088 Pseudobulbar Affect 36
810 LND001 Landau-Kleffner Syndrome 35
811 BCK005 Becker Nevus Syndrome 35
812 SCH071 Schaaf-Yang Syndrome 35
813 TRL002 Tarlov Cysts 35
814 c SPL033 Split-Hand/foot Malformation 6 35
815 c PRM032 Primary Congenital Glaucoma 35
816 P MYC078 Myoclonus and Ataxia 35
817 DQR001 De Quervain Disease 35
818 FMR018 Femoral-Facial Syndrome 35
819 WTK002 Witkop Syndrome 35
820 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 35
821 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 34
822 c ATS384 Autosomal Dominant Non-Syndromic Intellectual Disability 2 34
823 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 34
824 c ACR044 Acroosteolysis Dominant Type 33
825 STT009 Sutton Disease 2 32
826 CHR247 Chromosome 4p Deletion 32
827 c LSS037 Lissencephaly, X-Linked, 2 32
828 RBF003 Riboflavin Transporter Deficiency 29
829 c ERL012 Early-Onset Glaucoma 29
830 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
831 CRT039 Corticosterone Methyloxidase Type I Deficiency 29
832 CHR265 Chromosome 8p Duplication 29
833 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28
834 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 28
835 ESN016 Eosinophilic Pustular Folliculitis 28
836 KRN007 Kerion Celsi 28
837 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
838 c ATS385 Autosomal Dominant Non-Syndromic Intellectual Disability 3 27
839 EMB015 Embryonal Tumor with Multilayered Rosettes 27
840 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
841 BJL001 Bejel 27
842 CHR270 Chromosome 9p Duplication 27
843 LKN007 Leukonychia Totalis 26
844 CHR268 Chromosome 8q Duplication 26
845 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 25
846 ACR034 Acrogeria, Gottron Type 25
847 P PRX010 Paroxysmal Ventricular Fibrillation 25
848 TCH005 Tièche-Jadassohn Nevus 25
849 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25
850 CHR248 Chromosome 4p Duplication 25
851 MNS016 Monosomy 7 of Bone Marrow 25
852 c SPS142 Spastic Ataxia 2, Autosomal Recessive 24
853 CHR190 Chromosome 12p Duplication 24
854 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 23
855 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
856 c NNT025 Neonatal Systemic Lupus Erythematosus 23
857 CHR208 Chromosome 17p Deletion 23
858 CHR243 Chromosome 3p Deletion 22
859 CHR252 Chromosome 5p Duplication 21
860 c GLC054 Glaucoma 3, Primary Congenital, D 20
861 DBT018 Diabetic Mastopathy 20
862 IQS001 Iqsec2 19
863 CHR257 Chromosome 6q Deletion 18
864 c TRM022 Tremor, Hereditary Essential, 5 18
865 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 18
866 PRS053 Parsonage Turner Syndrome 18
867 c FBR079 Fibromatosis, Gingival, 2 18
868 CHR182 Chromosome 10p Duplication 18
869 1QD001 1q Duplications 18
870 c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 17
871 c GLC089 Glaucoma 3, Primary Congenital, E 17
872 CHD007 Chd2 Myoclonic Encephalopathy 17
873 c FBR077 Fibromatosis, Gingival, 3 17
874 c TRM017 Tremor, Hereditary Essential, 4 17
875 P 17Q010 17q12 Deletion Syndrome 16
876 PMP003 Pemphigus and Fogo Selvagem 16
877 HND013 Handl Syndrome 16
878 CHR249 Chromosome 4q Deletion 15
879 CHR271 Chromosome 9q Deletion 15
880 c FBR080 Fibromatosis, Gingival, 4 15
881 c VNT012 Ventricular Fibrillation, Paroxysmal Familial, 2 15
882 CHR244 Chromosome 3p Duplication 15
883 CHR272 Chromosome 9q Duplication 15
884 c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 15
885 CHR184 Chromosome 10q Duplication 15
886 c GSR001 Gosr2-Related Progressive Myoclonus Ataxia 14
887 CHR264 Chromosome 8p Deletion 14
888 CHR230 Chromosome 20q Deletion 14
889 CHR188 Chromosome 11q Duplication 14
890 c GLC052 Glaucoma 3, Primary Congenital, C 14
891 CHR238 Chromosome 2p Duplication 13
892 CHR195 Chromosome 14q Deletion 13
893 CHR261 Chromosome 7p Duplication 13
894 CHR220 Chromosome 1p Deletion 13
895 CHR263 Chromosome 7q Duplication 13
896 CHR183 Chromosome 10q Deletion 13
897 CHR223 Chromosome 1q Deletion 13
898 CHR250 Chromosome 4q Duplication 13
899 CHR189 Chromosome 12p Deletion 12
900 c SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 12
901 CHR192 Chromosome 12q Duplication 12
902 CHR203 Chromosome 16p Duplication 12
903 CHR256 Chromosome 6p Duplication 12
904 CHR239 Chromosome 2q Deletion 12
905 CHR233 Chromosome 21q Deletion 12
906 CHR196 Chromosome 14q Duplication 12
907 CHR235 Chromosome 22q Deletion 11
908 CHR181 Chromosome 10p Deletion 11
909 CHR240 Chromosome 2q Duplication 11
910 c TRM016 Tremor, Hereditary Essential, 3 11
911 CHR198 Chromosome 15q Deletion 11
912 CHR194 Chromosome 13q Duplication 11
913 CHR255 Chromosome 6p Deletion 11
914 CHR207 Chromosome 16q Duplication 11
915 CHR231 Chromosome 20q Duplication 11
916 CHR217 Chromosome 19q Deletion 11
917 c ATS390 Autosomal Dominant Non-Syndromic Intellectual Disability 9 11
918 c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 11
919 CHR210 Chromosome 17q Duplication 11
920 AHM001 Ahumada Del Castillo Syndrome 10
921 CHR214 Chromosome 18q Duplication 10
922 CHR185 Chromosome 11p Deletion 10
923 CHR237 Chromosome 2p Deletion 10
924 STT042 Stt3a-Cdg and Stt3b-Cdg 10
925 CHR221 Chromosome 1p Duplication 10
926 c ATS389 Autosomal Dominant Non-Syndromic Intellectual Disability 8 10
927 CHR274 Chromosome Xq Duplication 10
928 CHR267 Chromosome 8q Deletion 10
929 SPL023 Split Hand/foot Malformation X-Linked 9
930 CHR215 Chromosome 19p Deletion 9
931 CHR191 Chromosome 12q Deletion 9
932 CHR260 Chromosome 7p Deletion 9
933 CHR228 Chromosome 20p Deletion 9
934 c ADL083 Adult-Onset Citrullinemia Type I 9
935 CHR218 Chromosome 19q Duplication 9
936 CHR245 Chromosome 3q Deletion 8
937 c ATS386 Autosomal Dominant Non-Syndromic Intellectual Disability 4 8
938 CHR206 Chromosome 16q Deletion 8
939 CHR234 Chromosome 21q Duplication 8
940 MPN002 Mepan Syndrome 7
941 CHR216 Chromosome 19p Duplication 5
942 c 17Q009 17q12 Recurrent Deletion Syndrome 3
943 P RTT002 Rett Syndrome 84
944 ALP046 Alport Syndrome, X-Linked 74
945 P DYS154 Dystonia 65
946 CMP005 Campomelic Dysplasia 65
947 RCK004 Rickets 65
948 DSM004 Desmoid Tumor 63
949 FCT007 Factor Vii Deficiency 61
950 LPD016 Lipoid Proteinosis of Urbach and Wiethe 61
951 P PRM011 Primary Ciliary Dyskinesia 56
952 c DYS056 Dystonia 12 54
953 ISV001 Isovaleric Acidemia 52
954 c BNG091 Benign Chronic Pemphigus 51
955 GLY014 Glycerol Kinase Deficiency 51
956 CNG046 Congenital Fiber-Type Disproportion 51
957 RTC002 Reticular Dysgenesis 50
958 CRN005 Craniofrontonasal Syndrome 48
959 MCL075 Macular Dystrophy, Corneal 48
960 PLS029 Plasminogen Activator Inhibitor-1 Deficiency 46
961 WDM004 Wiedemann-Steiner Syndrome 46
962 P ENC008 Encephalocele 45
963 P PRM018 Primary Hypertrophic Osteoarthropathy 45
964 c DYS119 Dystonia 9 45
965 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 45
966 BHR002 Bohring-Opitz Syndrome 45
967 NRL002 Neurilemmomatosis 44
968 HND004 Hand-Foot-Genital Syndrome 43
969 PRL019 Prolidase Deficiency 43
970 ACH001 Acheiropody 42
971 c STR085 Striatonigral Degeneration, Infantile 42
972 TTR005 Tetrahydrobiopterin Deficiency 41
973 EPL131 Epilepsy, Pyridoxine-Dependent 41
974 CRN286 Corneal Dystrophy, Meesmann 41
975 ART035 Arterial Calcification of Infancy 39
976 PTC001 Potocki-Shaffer Syndrome 38
977 HYP737 Hyperhidrosis, Gustatory 38
978 TLS001 Tolosa-Hunt Syndrome 37
979 P HYP769 Hyperlysinemia, Type I 37
980 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 35
981 SCL025 Scleromyxedema 35
982 CTL005 Catel-Manzke Syndrome 35
983 KNZ001 Kanzaki Disease 35
984 P UNC017 Uncombable Hair Syndrome 1 34
985 ESN009 Eosinophil Peroxidase Deficiency 34
986 P PRK101 Parkinsonism-Dystonia, Infantile, 1 33
987 P STR001 Striatonigral Degeneration 33
988 OCL033 Oculocerebral Syndrome with Hypopigmentation 33
989 P OMD003 Omodysplasia 33
990 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 32
991 P ACR093 Acrofrontofacionasal Dysostosis 32
992 c OMD001 Omodysplasia 1 31
993 CRD017 Cardiac Valvular Dysplasia, X-Linked 27
994 c BSL030 Basal Encephalocele 26
995 c ACR103 Acrofrontofacionasal Dysostosis 1 25
996 c FRN037 Frontal Encephalocele 25
997 LRY026 Laryngeal Cleft 25
998 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
999 c RTT008 Rett Syndrome, Congenital Variant 23
1000 c DYS151 Dystonia 25 23
1001 c CLR068 Ciliary Dyskinesia, Primary, 5 22
1002 c PRK102 Parkinsonism-Dystonia, Infantile, 2 22
1003 CMP092 Complement Component 8 Deficiency, Type Ii 20
1004 CMP093 Complement Component 8 Deficiency, Type I 18
1005 c UNC019 Uncombable Hair Syndrome 2 16
1006 c UNC018 Uncombable Hair Syndrome 3 16
1007 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
1008 MLD001 Melioidosis 73
1009 CRN036 Craniopharyngioma 66
1010 HTC003 Hutchinson-Gilford Progeria Syndrome 65
1011 c DPH024 Diaphragmatic Hernia, Congenital 65
1012 P PLY014 Polycystic Kidney Disease 63
1013 P CRN015 Cornelia De Lange Syndrome 62
1014 CRC021 Carcinosarcoma 62
1015 P PTN014 Patent Ductus Arteriosus 1 61
1016 P HYP035 Hypophosphatasia 59
1017 GLB001 Gilbert Syndrome 58
1018 c GLC092 Glaucoma, Primary Open Angle 58
1019 GLY010 Glycine Encephalopathy 56
1020 c DWL002 Dowling-Degos Disease 1 56
1021 P SLV001 Silver-Russell Syndrome 55
1022 OCL069 Ocular Motor Apraxia 55
1023 CYS010 Cystinosis 55
1024 c CRN139 Cornelia De Lange Syndrome 1 55
1025 SGW002 Segawa Syndrome, Autosomal Recessive 54
1026 P INF037 Inflammatory Bowel Disease 54
1027 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 54
1028 CRT033 Corticobasal Degeneration 54
1029 P RTN016 Retinal Degeneration 53
1030 c INF071 Inflammatory Bowel Disease 1 53
1031 PST062 Pustulosis Palmaris Et Plantaris 52
1032 c XNT010 Xanthinuria, Type I 52
1033 c HYP293 Hypophosphatasia, Adult 52
1034 P WLL002 Weill-Marchesani Syndrome 52
1035 CLD007 Cold Agglutinin Disease 51
1036 c HYP292 Hypophosphatasia, Infantile 51
1037 KLN009 Kleine-Levin Hibernation Syndrome 50
1038 c ALB010 Albinism, Oculocutaneous, Type Ib 49
1039 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1040 TWN001 Twin-to-Twin Transfusion Syndrome 49
1041 P DNR001 Duane Retraction Syndrome 49
1042 HYP781 Hypoascorbemia 48
1043 c BRC079 Brachydactyly, Type A2 48
1044 P FML068 Familial Hypocalciuric Hypercalcemia 48
1045 TRC023 Trichinosis 48
1046 c LTN004 Late-Onset Retinal Degeneration 47
1047 AMB001 Amebiasis 47
1048 MRC002 Marcus Gunn Phenomenon 47
1049 KPS002 Kaposiform Hemangioendothelioma 46
1050 CHR492 Chromosome 13q14 Deletion Syndrome 46
1051 P DWL001 Dowling-Degos Disease 46
1052 PRS115 Prosthetic Joint Infection 46
1053 GLT007 Glutathione Synthetase Deficiency 45
1054 HST006 Histidinemia 45
1055 c BRC052 Brachydactyly, Type B2 44
1056 TKL001 Tukel Syndrome 44
1057 ADP007 Adie Pupil 43
1058 c MYP123 Myopathy, Centronuclear, 1 43
1059 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 43
1060 LNR006 Linear Iga Disease 43
1061 c WRB002 Warburg Micro Syndrome 1 42
1062 LRW001 Leri-Weill Dyschondrosteosis 42
1063 KLV001 Kluver-Bucy Syndrome 42
1064 SPR007 Superior Mesenteric Artery Syndrome 42
1065 c LPD019 Lipodystrophy, Partial, Acquired 42
1066 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 42
1067 P XNT004 Xanthinuria 42
1068 c AMY069 Amyotrophic Lateral Sclerosis 21 42
1069 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 41
1070 PYR037 Pyruvate Carboxylase Deficiency 41
1071 MLD006 Mal De Meleda 41
1072 c DNR003 Duane Retraction Syndrome 1 40
1073 MYT030 Myotonia, Potassium-Aggravated 39
1074 HMC038 Hemochromatosis, Neonatal 37
1075 P SRT003 Sertoli-Leydig Cell Tumor 37
1076 CRB079 Cerebrospinal Fluid Leak 37
1077 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1078 P CRB154 Cerebrocostomandibular Syndrome 36
1079 P SCH017 Schindler Disease 35
1080 NCT003 N-Acetylglutamate Synthase Deficiency 35
1081 c XNT011 Xanthinuria, Type Ii 35
1082 P ACR106 Acrocephalopolysyndactyly Type Iii 34
1083 MDN008 Median Arcuate Ligament Syndrome 34
1084 c HRD142 Hereditary Xanthinuria 34
1085 c SCH069 Schindler Disease, Type I 34
1086 GRS001 Gerstmann Syndrome 34
1087 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
1088 HMM002 Haim-Munk Syndrome 33
1089 c GLC041 Glaucoma 1, Open Angle, a 32
1090 c DNT025 Dentinogenesis Imperfecta 1 31
1091 P FRS004 Free Sialic Acid Storage Disorders 31
1092 c SCK011 Seckel Syndrome 5 31
1093 12Q002 12q14 Microdeletion Syndrome 31
1094 IVC001 Ivic Syndrome 30
1095 FRN022 Frontofacionasal Dysplasia 29
1096 P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 29
1097 CHR281 Chronic Hiccups 28
1098 NTR011 Neutrophil-Specific Granule Deficiency 28
1099 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 28
1100 HYP160 Hyperkeratosis Lenticularis Perstans 28
1101 c CRN134 Cornelia De Lange Syndrome 2 28
1102 MLD010 Mild Phenylketonuria 27
1103 SPN125 Spondyloenchondrodysplasia 27
1104 c MYP148 Myopathy, Centronuclear, 5 27
1105 PRN035 Perniosis 27
1106 XLN012 X-Linked Congenital Stationary Night Blindness 27
1107 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 27
1108 PGD001 Pagod Syndrome 26
1109 P TTH021 Tethered Cord Syndrome 26
1110 c GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 26
1111 EPL230 Epilepsy with Myoclonic-Atonic Seizures 26
1112 c LPD036 Lipodystrophy, Familial Partial, Type 6 26
1113 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
1114 CHR266 Chromosome 8p23.1 Deletion 26
1115 FBR088 Fibromatosis, Gingival, with Progressive Deafness 26
1116 c ACR105 Acrofrontofacionasal Dysostosis 2 26
1117 c WLL040 Weill-Marchesani Syndrome 4 25
1118 c CRN215 Cornelia De Lange Syndrome 4 25
1119 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1120 YNG002 Young Syndrome 25
1121 CLC017 Calcification of Joints and Arteries 25
1122 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 24
1123 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 24
1124 c CRN209 Cornelia De Lange Syndrome 5 24
1125 c INF077 Inflammatory Bowel Disease 19 24
1126 ACR107 Acrofacial Dysostosis, Palagonia Type 24
1127 c CRN135 Cornelia De Lange Syndrome 3 23
1128 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 23
1129 P ALP068 Alopecia-Intellectual Disability Syndrome 23
1130 LCH008 Lichen Planus Pigmentosus 22
1131 c MYP098 Myopathy, Centronuclear, 4 22
1132 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
1133 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 22
1134 OGL001 Ogilvie Syndrome 21
1135 ACR019 Acropectoral Syndrome 21
1136 DSS022 Disseminated Peritoneal Leiomyomatosis 21
1137 ACN013 Acanthocheilonemiasis 21
1138 c CHR227 Chromosome 20 Trisomy 20
1139 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 20
1140 ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 19
1141 BRC100 Brachydactyly, Combined B and E Types 19
1142 c PLY141 Polycystic Kidney Disease 5 19
1143 XLN134 X-Linked Intellectual Disability, Siderius Type 19
1144 c MYP096 Myopathy, Centronuclear, 3 19
1145 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 19
1146 LNR010 Linear Lichen Planus 19
1147 c DNR004 Duane Retraction Syndrome 2 18
1148 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1149 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18
1150 c GLC079 Glaucoma 1, Open Angle, P 18
1151 YCH001 Y Chromosome Infertility 18
1152 ABS001 Absence of Fingerprints Congenital Milia 18
1153 c GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 17
1154 LRG010 L-Arginine:glycine Amidinotransferase Deficiency 17
1155 c INF067 Inflammatory Bowel Disease 10 17
1156 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 17
1157 c INF068 Inflammatory Bowel Disease 13 17
1158 c DWL003 Dowling-Degos Disease 2 17
1159 c CRN068 Corneal Endothelial Dystrophy Type 2 17
1160 ADL094 Adolescent-Onset Dystonia of Mixed Type 17
1161 PYR015 Pyridoxal 5'-Phosphate-Dependent Epilepsy 17
1162 c DPH016 Diaphragmatic Hernia 3 17
1163 c INF093 Inflammatory Bowel Disease 14 16
1164 c INF160 Inflammatory Bowel Disease 17 16
1165 CLD006 Cleidorhizomelic Syndrome 16
1166 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 16
1167 c DWL004 Dowling-Degos Disease 4 16
1168 c DNT047 Dentinogenesis Imperfecta Type 2 15
1169 RGH003 Right Ventricle Hypoplasia 15
1170 c MRD001 Marden Walker Like Syndrome 15
1171 c DPH025 Diaphragmatic Hernia 2 15
1172 ANP019 Anophthalmos with Limb Anomalies 14
1173 OCL031 Oculo-Cerebral Dysplasia 14
1174 c INF047 Infantile Free Sialic Acid Storage Disease 14
1175 BNG042 Benign Multicystic Peritoneal Mesothelioma 13
1176 SCN061 Scn8a Encephalopathy 13
1177 HYP642 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 13
1178 ABS007 Absent Patella 13
1179 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1180 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 12
1181 RRD001 Reardon Wilson Cavanagh Syndrome 12
1182 DNM003 Daneman Davy Mancer Syndrome 11
1183 MN1002 Man1b1-Cdg 11
1184 ISL037 Isolated Anterior Cervical Hypertrichosis 11
1185 CHL110 Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency 10
1186 EPL008 Epilepsy Occipital Calcifications 10
1187 c PRM246 Primary Tethered Cord Syndrome 10
1188 P HRN027 Hernia, Anterior Diaphragmatic 10
1189 3LP002 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 10
1190 LYM044 Lymphocytic Infiltrate of Jessner 10
1191 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 8
1192 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
1193 c MLG021 Malignant Sertoli-Leydig Cell Tumor 7
1194 15Q006 15q13.3 Microduplication Syndrome 6
1195 c MCL042 Macular Degeneration, Age-Related, 1 83
1196 PLM134 Pulmonary Fibrosis, Idiopathic 74
1197 c MLT156 Multiple Endocrine Neoplasia, Type I 72
1198 WLS001 Wilson Disease 70
1199 APR006 Apert Syndrome 69
1200 P CLD001 Cleidocranial Dysplasia 65
1201 CRZ001 Crouzon Syndrome 65
1202 GTL001 Gitelman Syndrome 63
1203 c LNG044 Long Qt Syndrome 1 62
1204 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
1205 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1206 PRT058 Pure Autonomic Failure 61
1207 CCC001 Coccidioidomycosis 60
1208 TRD006 Tardive Dyskinesia 60
1209 PND002 Pendred Syndrome 59
1210 ZLL002 Zollinger-Ellison Syndrome 59
1211 VGT001 Vogt-Koyanagi-Harada Disease 59
1212 SLC006 Silicosis 57
1213 BTN003 Biotinidase Deficiency 57
1214 KRT002 Keratomalacia 56
1215 FDB001 Foodborne Botulism 56
1216 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 56
1217 P HYP050 Hyperinsulinemic Hypoglycemia 55
1218 TMT001 Timothy Syndrome 53
1219 P PLG001 Pelger-Huet Anomaly 53
1220 RSD004 Rosai-Dorfman Disease 52
1221 P LPR002 Leopard Syndrome 51
1222 HNC001 Henoch-Schoenlein Purpura 51
1223 PSD014 Pseudopseudohypoparathyroidism 51
1224 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
1225 HYP088 Hyper-Igd Syndrome 50
1226 DFF035 Diffuse Cutaneous Systemic Sclerosis 50
1227 FBR008 Fibrillary Astrocytoma 49
1228 c CNR007 Cone-Rod Dystrophy 6 49
1229 MTC020 Mitochondrial Complex Ii Deficiency 49
1230 P BRN006 Branchiootorenal Syndrome 47
1231 ICH002 Ichthyosis Bullosa of Siemens 47
1232 c 46X001 46 Xy Gonadal Dysgenesis 46
1233 BRK001 Brooke-Spiegler Syndrome 46
1234 PLM041 Pulmonary Valve Stenosis 45
1235 FLT006 Floating-Harbor Syndrome 45
1236 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 45
1237 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 45
1238 RTR011 Retroperitoneal Fibrosis 44
1239 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
1240 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1241 PNN005 Panencephalitis, Subacute Sclerosing 44
1242 CRS005 Crest Syndrome 44
1243 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 44
1244 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
1245 IDP033 Idiopathic Edema 43
1246 c ACH021 Achromatopsia 3 43
1247 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
1248 P CNG436 Congenital Disorder of Deglycosylation 42
1249 c CHR579 Chiari Malformation Type Ii 42
1250 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41
1251 TLP001 Talipes Equinovarus 41
1252 c LNG096 Long Qt Syndrome 15 40
1253 c LNG057 Long Qt Syndrome 13 40
1254 c BRN131 Branchiootorenal Syndrome 1 39
1255 DRC001 Dracunculiasis 39
1256 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1257 TST023 Testotoxicosis 38
1258 DND005 Dandy-Walker Complex 38
1259 c LPR012 Leopard Syndrome 1 38
1260 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 38
1261 AMN007 Aminoacylase 1 Deficiency 37
1262 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 37
1263 MKL001 Mikulicz Disease 37
1264 P YWS001 Yaws 36
1265 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 36
1266 c LNG056 Long Qt Syndrome 12 35
1267 CHR662 Chromosome 15q13.3 Deletion Syndrome 35
1268 MRK002 Marek Disease 34
1269 GRV012 Grover's Disease 34
1270 MYC088 Mycobacterium Avium Complex Infections 33
1271 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
1272 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 33
1273 P MTP005 Metaphyseal Anadysplasia 33
1274 PRM050 Primary Orthostatic Tremor 32
1275 NRM009 Normokalemic Periodic Paralysis 32
1276 PLM052 Pulmonary Arteriovenous Malformation 32
1277 ADL060 Adult Polyglucosan Body Disease 32
1278 LNG054 Lung Agenesis 32
1279 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
1280 c PRM015 Primary Cerebellar Degeneration 31
1281 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 31
1282 5LP001 5-Alpha Reductase Deficiency 30
1283 PRT049 Partial Deletion of Y 30
1284 c GM1006 Gm1-Gangliosidosis, Type Iii 30
1285 c PRM195 Primary Lateral Sclerosis, Juvenile 30
1286 WLD004 Wildervanck Syndrome 29
1287 KRT013 Keratolytic Winter Erythema 29
1288 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
1289 P VSC018 Visceral Steatosis 29
1290 DRM050 Dermographism, Familial 28
1291 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 28
1292 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
1293 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 28
1294 PRX034 Peroxisome Disorders 28
1295 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
1296 MYT019 May-Thurner Syndrome 27
1297 c LNG098 Long Qt Syndrome 14 27
1298 c RNG016 Ring Chromosome 20 27
1299 c SYN060 Syndactyly, Type Iii 26
1300 FBR028 Fibrosing Mediastinitis 26
1301 c MCL078 Macular Degeneration, Age-Related, 14 26
1302 PLY135 Polydactyly, Postaxial, with Progressive Myopia 25
1303 c VSC053 Visceral Steatosis, Congenital 25
1304 MLD017 Mal De Debarquement Syndrome 25
1305 CTN016 Cutaneous Larva Migrans 25
1306 c MCL043 Macular Degeneration, Age-Related, 2 24
1307 c MGR031 Migraine, Familial Hemiplegic, 3 24
1308 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
1309 MLL004 Mallory-Weiss Syndrome 24
1310 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 24
1311 P PST016 Posterior Polar Cataract 24
1312 UNL013 Unilateral Absence of a Pulmonary Artery 23
1313 DST011 Distal Chromosome 18q Deletion Syndrome 23
1314 AMN009 Amniotic Band Syndrome 23
1315 c SBC039 Subacute Cerebellar Degeneration 23
1316 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 23
1317 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
1318 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 22
1319 c MCL030 Macular Degeneration, Age-Related, 10 22
1320 c GNS004 Geniospasm 1 21
1321 c MCL051 Macular Degeneration, Age-Related, 12 21
1322 THP001 Thiopurine S Methyltranferase Deficiency 21
1323 c ERL004 Early Yaws 21
1324 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 21
1325 PRX013 Proximal Chromosome 18q Deletion Syndrome 20
1326 c MCL052 Macular Degeneration, Age-Related, 13 20
1327 c LTY001 Late Yaws 19
1328 AMY010 Amyloidosis Beta2m 19
1329 c BRN086 Branchiootorenal Syndrome 2 19
1330 NCT004 N Acetyltransferase Deficiency 18
1331 P MCL058 Macular Degeneration, Early-Onset 18
1332 P RNG031 Ring Chromosome Y Syndrome 18
1333 c 46X002 46 Xx Gonadal Dysgenesis 18
1334 BRH001 Boerhaave Syndrome 17
1335 CRB155 Carbonic Anhydrase Va Deficiency 17
1336 c MCL039 Macular Degeneration, Age-Related, 8 16
1337 16P002 16p11.2 Deletion Syndrome 16
1338 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
1339 c MCL041 Macular Degeneration, Age-Related, 7 16
1340 c MCL077 Macular Degeneration, Age-Related, 5 16
1341 c MCL032 Macular Degeneration, Age-Related, 11 16
1342 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 16
1343 ISL067 Isolated Congenital Megalocornea 16
1344 c MCL038 Macular Degeneration, Age-Related, 4 16
1345 c MCL036 Macular Degeneration, Age-Related, 6 16
1346 ACH040 Achoo Syndrome 16
1347 DPL003 Diploid-Triploid Mosaicism 15
1348 c MTP014 Metaphyseal Anadysplasia 2 15
1349 c MCL044 Macular Degeneration, Age-Related, 9 15
1350 c MCL065 Macular Degeneration, Age-Related, 15 15
1351 RDC003 Red Cell Phospholipid Defect with Hemolysis 14
1352 CTR009 Cataract Congenital Dominant Non Nuclear 13
1353 16P008 16p11.2 Duplication 13
1354 HTC001 Hutchinson Incisors 13
1355 BST005 Bustos Simosa Pinto Cisternas Syndrome 12
1356 c SYN050 Syndactyly Type 6 12
1357 P HRD194 Hereditary Geniospasm 12
1358 CHR459 Chromosome Xp Deletion 12
1359 PCS002 Pacs1-Related Syndrome 12
1360 NPH026 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 11
1361 STB003 Setbp1 Disorder 10
1362 c ACT189 Acute Neonatal Citrullinemia Type I 10
1363 FTL011 Fetal Aminopterin Syndrome 10
1364 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 9
1365 c ERL039 Early-Onset Anterior Polar Cataract 9
1366 BRK005 Berk-Tabatznik Syndrome 9
1367 PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 8
1368 c ICH015 Ichthyosis Lamellar 2 7
1369 TMM013 Tmem70 Defect 7
1370 CHR460 Chromosome Xq Deletion 7
1371 CHR186 Chromosome 11p Duplication 7
1372 GRN053 Grin2b Related Syndrome 7
1373 SPS189 Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 5
1374 c SPN225 Spondyloarthropathy 1 75
1375 PMS001 Poems Syndrome 64
1376 P PRD006 Prader-Willi Syndrome 63
1377 QFV001 Q Fever 62
1378 c MNN047 Mannosidosis, Alpha B, Lysosomal 59
1379 CNT061 Conotruncal Heart Malformations 58
1380 P AXN002 Axenfeld-Rieger Syndrome 56
1381 c HYD046 Hydatidiform Mole, Recurrent, 1 56
1382 P SPN052 Spondyloarthropathy 56
1383 CHY002 Chylomicron Retention Disease 55
1384 SCH002 Schnitzler Syndrome 54
1385 P LFT003 Left Ventricular Noncompaction 53
1386 P ICH001 Ichthyosis Vulgaris 53
1387 PLM026 Pilomatrixoma 53
1388 ANT003 Antley-Bixler Syndrome 51
1389 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 51
1390 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 51
1391 BLL001 Baller-Gerold Syndrome 51
1392 P MNN019 Mannosidosis, Beta a, Lysosomal 51
1393 P ALT001 Alternating Hemiplegia of Childhood 51
1394 CTS011 Cutis Marmorata Telangiectatica Congenita 50
1395 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
1396 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 49
1397 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1398 YNS002 Yunis-Varon Syndrome 49
1399 SRS007 Sorsby Fundus Dystrophy 49
1400 AML029 Ameloblastoma 49
1401 ENC010 Encephalocraniocutaneous Lipomatosis 48
1402 c DSB006 Desbuquois Dysplasia 1 45
1403 HMF008 Hemifacial Atrophy, Progressive 40
1404 RPD002 Rapadilino Syndrome 39
1405 NVS015 Nevus Comedonicus 39
1406 CRL004 Caroli Disease 39
1407 PNB004 Panbronchiolitis, Diffuse 38
1408 PRG123 Progeroid Syndrome, Neonatal 35
1409 INT104 Intravascular Papillary Endothelial Hyperplasia 35
1410 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
1411 c ATL011 Atelosteogenesis, Type I 33
1412 TTR012 Tetrasomy 9p 33
1413 BRW004 Brown-Sequard Syndrome 33
1414 WSM003 Weismann-Netter Syndrome 30
1415 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28
1416 P DSB002 Desbuquois Dysplasia 28
1417 c RNG029 Ring Chromosome 14 Syndrome 28
1418 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 26
1419 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
1420 c DSB005 Desbuquois Dysplasia 2 25
1421 ARD001 Aredyld 25
1422 P PPL026 Papular Mucinosis 23
1423 c LFT017 Left Ventricular Noncompaction 8 21
1424 c LFT018 Left Ventricular Noncompaction 10 19
1425 c HYD041 Hydatidiform Mole, Recurrent, 2 18
1426 RBB001 Ribbing Disease 18
1427 c SPN226 Spondyloarthropathy 2 15
1428 QZM001 Qazi Markouizos Syndrome 15
1429 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
1430 BSC003 Buschke Lowenstein Tumor 15
1431 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
1432 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
1433 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
1434 c SPN256 Spondyloarthropathy 3 11
1435 c PPL045 Papular Mucinosis of Infancy 10
1436 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1437 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1438 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 6
1439 ACR007 Acromegaly 71
1440 GLL008 Gilles De La Tourette Syndrome 68
1441 CHR103 Charge Syndrome 64
1442 PLL001 Pallister-Hall Syndrome 64
1443 P RBL001 Rubella 64
1444 P EHL001 Ehlers-Danlos Syndrome 61
1445 MYX005 Myxoid Liposarcoma 59
1446 P BCK002 Beckwith-Wiedemann Syndrome 59
1447 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 59
1448 GRG001 Greig Cephalopolysyndactyly Syndrome 58
1449 P LCH002 Lichen Planus 58
1450 SPN008 Spondyloepiphyseal Dysplasia Congenita 57
1451 P MLT007 Multiple Epiphyseal Dysplasia 57
1452 WLL006 Wells Syndrome 57
1453 BLR001 Biliary Atresia 57
1454 P HYP076 Hyperthyroidism 56
1455 P AGN002 Agnosia 56
1456 NPH018 Nephrogenic Systemic Fibrosis 56
1457 DYS164 Dyskeratosis Congenita, X-Linked 56
1458 P STS008 Sotos Syndrome 1 56
1459 MMM001 Mammary Paget's Disease 55
1460 CHR081 Choroideremia 55
1461 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54
1462 RYS001 Reye Syndrome 54
1463 HYP458 Hyper Ige Syndrome 52
1464 P APL006 Aplasia Cutis Congenita 52
1465 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52
1466 ARG007 Argininemia 51
1467 EPD006 Epidermolysis Bullosa Acquisita 51
1468 NDL003 Nodular Nonsuppurative Panniculitis 51
1469 CLB010 Coloboma of Macula 51
1470 SBL008 Sea-Blue Histiocyte Disease 51
1471 CNN011 Cenani-Lenz Syndactyly Syndrome 51
1472 MMB001 Membranoproliferative Glomerulonephritis 51
1473 PYC001 Pycnodysostosis 50
1474 ULN003 Ulnar-Mammary Syndrome 50
1475 c RNG023 Ring Chromosome 7 50
1476 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
1477 c CRG004 Crigler-Najjar Syndrome, Type Ii 50
1478 FCH001 Fuchs' Endothelial Dystrophy 49
1479 P RDL002 Radioulnar Synostosis 49
1480 c CNG124 Congenital Rubella 49
1481 c ALP073 Alport Syndrome, Autosomal Recessive 49
1482 P D2H002 D-2-Hydroxyglutaric Aciduria 1 49
1483 MYP136 Myopathy, Centronuclear, X-Linked 48
1484 PYL017 Pyle Disease 48
1485 MCR037 Macroglossia 47
1486 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
1487 c USH037 Usher Syndrome, Type Iia 47
1488 P PLM085 Pulmonary Hemosiderosis 46
1489 P 8P1002 8p11 Myeloproliferative Syndrome 46
1490 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
1491 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 45
1492 CHN054 Chondrodysplasia, Blomstrand Type 45
1493 c MYL058 Myeloproliferative Syndrome, Transient 45
1494 BLD063 Bile Duct Cysts 45
1495 P JVN007 Juvenile Absence Epilepsy 45
1496 GCH018 Gaucher Disease, Perinatal Lethal 45
1497 c BRN108 Branchiootic Syndrome 1 45
1498 P DYS026 Dysfibrinogenemia 44
1499 SCH076 Schnyder Corneal Dystrophy 44
1500 IRN008 Iron Overload in Africa 43
1501 GLY015 Glycine N-Methyltransferase Deficiency 43
1502 CHR276 Chronic Active Epstein-Barr Virus Infection 43
1503 FRY002 Fryns Syndrome 43
1504 MYP151 Myopathy, Congenital, Bailey-Bloch 42
1505 P FRN036 Frontonasal Dysplasia 1 42
1506 P WLL010 Woolly Hair Syndrome 42
1507 HYP801 Hyperferritinemia with or Without Cataract 41
1508 PTC002 Potocki-Lupski Syndrome 41
1509 DHY011 Dihydropyrimidinase Deficiency 41
1510 P BNG013 Benign Breast Phyllodes Tumor 41
1511 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 41
1512 c MYP131 Myopathy, Centronuclear, 2 40
1513 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 40
1514 PSR016 Psoriatic Juvenile Idiopathic Arthritis 40
1515 FNT005 Fontaine Progeroid Syndrome 40
1516 MSS002 Mass Syndrome 39
1517 c LKD009 Leukodystrophy, Hypomyelinating, 5 39
1518 CLD011 Cold Urticaria 39
1519 TST043 Testicular Seminoma 39
1520 BLR027 Blue Rubber Bleb Nevus 38
1521 c LSS006 Lissencephaly 2 38
1522 c RNG004 Ring Chromosome 1 38
1523 c DYS165 Dysfibrinogenemia, Congenital 38
1524 LYM043 Lymphocytic Hypophysitis 38
1525 PHS009 Phosphoglycerate Kinase Deficiency 37
1526 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37
1527 P BRN042 Branchiootic Syndrome 37
1528 DNT045 Dental Anomalies and Short Stature 37
1529 c RNG020 Ring Chromosome 4 37
1530 CHR659 Chromosome 22q11.2 Duplication Syndrome 36
1531 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 36
1532 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 36
1533 GST059 Gestational Trophoblastic Tumor 35
1534 VTR010 Vitreoretinochoroidopathy 35
1535 TMP012 Temple Syndrome 35
1536 MNG003 Mungan Syndrome 34
1537 c BRS007 Breast Malignant Phyllodes Tumor 34
1538 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 34
1539 ADR023 Adrenomyodystrophy 34
1540 MYC019 Mycobacterium Marinum 34
1541 DFN007 Deafness Enamel Hypoplasia Nail Defects 33
1542 SMT020 Smith-Kingsmore Syndrome 33
1543 c EPL133 Epilepsy, Juvenile Absence 1 33
1544 HYP596 Hypophosphatasia, Childhood 33
1545 OCL039 Oculoectodermal Syndrome 33
1546 P GLM015 Glomerulopathy with Fibronectin Deposits 2 33
1547 c RNG008 Ring Chromosome 13 32
1548 P CNR031 Cone-Rod Dystrophy, X-Linked, 1 32
1549 CNG134 Congenitally Corrected Transposition of the Great Arteries 32
1550 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32
1551 c APL023 Aplasia Cutis Congenita, Nonsyndromic 32
1552 PHC006 Phacomatosis Pigmentovascularis 32
1553 c RNG018 Ring Chromosome 22 32
1554 SPN348 Spondylometaphyseal Dysplasia, Axial 31
1555 SYS006 Say Syndrome 31
1556 SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 31
1557 P PLY148 Polydactyly, Preaxial Ii 31
1558 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 31
1559 RNG003 Ring Dermoid of Cornea 31
1560 PRM004 Primary Amebic Meningoencephalitis 31
1561 PSD046 Pseudotrisomy 13 Syndrome 30
1562 FCH002 Fuchs' Heterochromic Uveitis 30
1563 EXT051 Extracranial Arteriovenous Malformation 30
1564 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 30
1565 TBL008 Tibial Hemimelia 30
1566 MSM004 Mesomelia-Synostoses Syndrome 30
1567 c STC013 Stickler Syndrome, Type Ii 30
1568 c STS007 Sotos Syndrome 2 30
1569 NST002 Nestor-Guillermo Progeria Syndrome 29
1570 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1571 c RNG017 Ring Chromosome 21 29
1572 OCL040 Oculomaxillofacial Dysostosis 29
1573 c RNG022 Ring Chromosome 6 29
1574 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 29
1575 ACR099 Acrofacial Dysostosis, Catania Type 28
1576 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 28
1577 CRN235 Corneal Dystrophy, Groenouw Type I 28
1578 P MRL001 Meralgia Paresthetica 27
1579 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 27
1580 c RNG007 Ring Chromosome 12 27
1581 CMP075 Campomelia, Cumming Type 27
1582 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
1583 c RNG005 Ring Chromosome 10 27
1584 HYP782 Hypoglycemia, Leucine-Induced 27
1585 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 27
1586 HYP682 Hypertelorism, Teebi Type 27
1587 c BRC045 Brachyolmia Type 3 26
1588 HYP648 Hypertension and Brachydactyly Syndrome 26
1589 UNC014 Unicentric Castleman Disease 26
1590 c FRN033 Frontonasal Dysplasia 2 26
1591 FBR085 Fibrillary Glomerulonephritis 26
1592 CTN027 Cutaneous Mastocytoma 26
1593 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 26
1594 c RNG015 Ring Chromosome 2 26
1595 MGL027 Megalocornea-Intellectual Disability Syndrome 26
1596 TRG006 Trigger Thumb 26
1597 HSH001 Hashimoto-Pritzker Syndrome 25
1598 c RNG024 Ring Chromosome 8 25
1599 BP1002 Bap1 Tumor Predisposition Syndrome 25
1600 P ACR020 Acropectorovertebral Dysplasia 25
1601 c FRN032 Frontonasal Dysplasia 3 25
1602 INS010 Insulin-Resistant Acanthosis Nigricans, Type a 24
1603 c ERL003 Early Onset Absence Epilepsy 24
1604 P PNT006 Pentosuria 24
1605 c CNG514 Congenital Radioulnar Synostosis 24
1606 VTR018 Vitreoretinal Degeneration, Snowflake Type 24
1607 SCH055 Schilbach-Rott Syndrome 24
1608 OSB001 Osebold-Remondini Syndrome 24
1609 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1610 JNT001 Joint Laxity, Familial 24
1611 c RNG013 Ring Chromosome 18 24
1612 GNT043 Genitopalatocardiac Syndrome 24
1613 SCH024 Schinzel Giedion Syndrome 23
1614 c RNG010 Ring Chromosome 15 23
1615 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 23
1616 LRY027 Laryngeal Papillomatosis 23
1617 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 22
1618 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 22
1619 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 22
1620 c ACR108 Acrocephalopolysyndactyly Type Iv 22
1621 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22
1622 c EHL065 Ehlers-Danlos Syndrome, Type V 22
1623 NRD039 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language 22
1624 JMP002 Jumping Frenchmen of Maine 21
1625 CRD023 Cardiomyopathy Cataract Hip Spine Disease 21
1626 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 21
1627 INT231 Intellectual Disability - Athetosis - Microphthalmia 21
1628 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 21
1629 MTR016 Maternal Hyperphenylalaninemia 21
1630 MRN005 Marie Unna Congenital Hypotrichosis 21
1631 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 21
1632 c BRC053 Brachyolmia Type 2 21
1633 BRC116 Brachial Amelia, Cleft Lip, and Holoprosencephaly 21
1634 ATX021 Ataxia - Hypogonadism - Choroidal Dystrophy 20
1635 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 20
1636 THY106 Thyroglossal Duct Cyst, Familial 20
1637 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 20
1638 CHR457 Chromosome 17p13.1 Deletion Syndrome 20
1639 c D2H003 D-2-Hydroxyglutaric Aciduria 2 20
1640 RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 20
1641 THR032 Thoracolaryngopelvic Dysplasia 20
1642 1Q4001 1q44 Microdeletion Syndrome 19
1643 c STS009 Sotos Syndrome 3 19
1644 RNS005 Rnase T2-Deficient Leukoencephalopathy 19
1645 ULN005 Ulna and Fibula, Hypoplasia of 19
1646 CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 19
1647 c RNG025 Ring Chromosome 9 19
1648 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
1649 ULN007 Ulna Metaphyseal Dysplasia Syndrome 18
1650 OBS050 Obesity Due to Congenital Leptin Deficiency 18
1651 19P001 19p13.12 Microdeletion Syndrome 18
1652 WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 18
1653 c SX2003 Six2-Related Frontonasal Dysplasia 18
1654 IDP081 Idiopathic Hypertrophic Pachymeningitis 18
1655 BRC095 Brachydactyly, Mononen Type 18
1656 HNH001 Hanhart Syndrome 18
1657 c ESS007 Essential Pentosuria 18
1658 c WLL035 Woolly Hair, Autosomal Recessive 3 18
1659 8Q1001 8q12 Microduplication Syndrome 18
1660 HND005 Hand and Foot Deformity with Flat Facies 18
1661 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
1662 MLL006 Mollaret Meningitis 17
1663 c WLL018 Woolly Hair, Autosomal Dominant 17
1664 TTR010 Tetramelic Monodactyly 17
1665 c PLY137 Polydactyly, Preaxial Iii 17
1666 c RNG012 Ring Chromosome 17 17
1667 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17
1668 CRY029 Cryptomicrotia-Brachydactyly Syndrome 16
1669 FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 16
1670 WLN002 Welander Distal Myopathy, Swedish Type 16
1671 XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 16
1672 FRY004 Fryns Hofkens Fabry Syndrome 16
1673 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 15
1674 c FRM002 Form Agnosia 15
1675 HNT009 Hunter-Mcalpine Syndrome 14
1676 LNR001 Leiner Disease 13
1677 c ACR046 Acropectorovertebral Dysplasia F Form 13
1678 P BMN001 Biemond Syndrome 13
1679 DRM036 Dermochondrocorneal Dystrophy of François 12
1680 DST013 Distal Myopathy with Vocal Cord Weakness 12
1681 c TYP003 Type I Ehlers-Danlos Syndrome 12
1682 c LCH017 Lichen Planus, Familial 12
1683 MCR073 Microgastria Limb Reduction Defect 11
1684 SPL021 Split Hand Split Foot Nystagmus 11
1685 c MYL070 Myeloproliferative Disease, Autosomal Recessive 11
1686 c MRL006 Meralgia Paraesthetica, Familial 10
1687 ARH001 Arhinia Choanal Atresia Microphthalmia 10
1688 TRC048 Trichodental Syndrome 10
1689 BMR003 Beemer Ertbruggen Syndrome 10
1690 MCL020 Macules Hereditary Congenital Hypopigmented and Hyperpigmented 10
1691 c SCN047 Secondary Pulmonary Hemosiderosis 10
1692 MSL002 Mousa Al Din Al Nassar Syndrome 10
1693 TBB001 Tibia Absent Polydactyly Arachnoid Cyst 10
1694 BRC024 Brachydactyly Elbow Wrist Dysplasia 9
1695 RMS002 Ramos Arroyo Clark Syndrome 9
1696 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 9
1697 DND014 Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus 8
1698 GRB001 Grubben De Cock Borghgraef Syndrome 8
1699 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
1700 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 8
1701 GLS019 Glass-Chapman-Hockley Syndrome 7
1702 DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 7
1703 ATS241 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 7
1704 CHR259 Chromosome 6q25 Microdeletion Syndrome 6
1705 VNT005 Ventricular Extrasystoles with Syncopal Episodes - Perodactyly - Robin Sequence 6
1706 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1707 c RRL001 Rare Lichen Planus 6
1708 P MYS003 Myasthenia Gravis 74
1709 P AGM001 Agammaglobulinemia 71
1710 P TBR001 Tuberous Sclerosis 69
1711 CHR066 Chronic Fatigue Syndrome 67
1712 INT146 Intervertebral Disc Disease 62
1713 PRM236 Primary Biliary Cholangitis 62
1714 P HYP370 Hypokalemic Periodic Paralysis, Type 1 61
1715 KRT001 Keratoconjunctivitis Sicca 60
1716 PTR032 Peters-Plus Syndrome 60
1717 STT001 Status Epilepticus 60
1718 PYR041 Pyruvate Kinase Deficiency of Red Cells 59
1719 PRG009 Progressive Multifocal Leukoencephalopathy 59
1720 PTN001 Patent Foramen Ovale 58
1721 P HRD011 Hereditary Spherocytosis 58
1722 HYP730 Hypogonadotropic Hypogonadism 58
1723 MVL001 Mevalonic Aciduria 57
1724 P ATS308 Autosomal Dominant Cerebellar Ataxia 57
1725 P ICH004 Ichthyosis 56
1726 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 56
1727 PPL025 Popliteal Pterygium Syndrome 56
1728 APP015 Apparent Mineralocorticoid Excess 55
1729 P FNC043 Fanconi Anemia, Complementation Group E 54
1730 PTS001 Patau Syndrome 54
1731 ANS023 Anus, Imperforate 54
1732 NNL002 Nonalcoholic Steatohepatitis 53
1733 BRN009 Burning Mouth Syndrome 53
1734 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
1735 SPH001 Sapho Syndrome 53
1736 LYS003 Lysinuric Protein Intolerance 53
1737 c CNT075 Central Precocious Puberty 53
1738 P PLY017 Polyarteritis Nodosa 52
1739 P PRC019 Precocious Puberty 52
1740 c CHR320 Chiari Malformation Type I 52
1741 KRT071 Keratosis, Seborrheic 52
1742 GGR001 Geographic Tongue 52
1743 c FNC042 Fanconi Anemia, Complementation Group D2 52
1744 RPP001 Rapp-Hodgkin Syndrome 52
1745 P BND018 Band Heterotopia 51
1746 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
1747 P HMG032 Hemoglobin H Disease 51
1748 P MYT002 Myotonic Dystrophy 51
1749 SPR004 Supravalvular Aortic Stenosis 51
1750 PLN005 Palindromic Rheumatism 51
1751 P PNV001 Panuveitis 51
1752 INT303 Intracranial Hypertension, Idiopathic 50
1753 P BRT029 Brittle Cornea Syndrome 2 50
1754 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 50
1755 P KRN004 Kernicterus 50
1756 SLD003 Sialadenitis 49
1757 MTY001 Mutyh-Associated Polyposis 48
1758 PRS012 Pars Planitis 48
1759 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
1760 ACR012 Aicardi Syndrome 48
1761 TRC040 Tracheoesophageal Fistula 48
1762 MSN001 Mesangial Proliferative Glomerulonephritis 48
1763 c HNT010 Huntington Disease-Like 1 48
1764 HMM003 Hemimegalencephaly 48
1765 TRP014 Triploidy 47
1766 c CNG216 Congenital Hydrocephalus 47
1767 c GMM003 Gamma Heavy Chain Disease 47
1768 STT007 Steatocystoma Multiplex 46
1769 c EPP017 Epiphyseal Dysplasia, Multiple, 1 46
1770 c SPH013 Spherocytosis, Type 1 46
1771 FCT005 Factor Xiii Deficiency 45
1772 NCL006 Nicolaides-Baraitser Syndrome 45
1773 DBW001 Dubowitz Syndrome 45
1774 LCH009 Lichen Sclerosus 44
1775 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 44
1776 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 43
1777 FML330 Familial Lcat Deficiency 43
1778 LRY029 Laryngomalacia 43
1779 HYP706 Hypermobile Ehlers-Danlos Syndrome 42
1780 c FNC045 Fanconi Anemia, Complementation Group F 41
1781 PDT025 Pediatric Multiple Sclerosis 41
1782 c HNT004 Huntington Disease-Like 2 41
1783 c FNC024 Fanconi Anemia, Complementation Group D1 41
1784 DYN002 Doyne Honeycomb Retinal Dystrophy 40
1785 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 40
1786 BNG018 Benign Paroxysmal Positional Nystagmus 39
1787 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 39
1788 LCT003 Lactocele 39
1789 c EPP013 Epiphyseal Dysplasia, Multiple, 5 39
1790 CNT106 Centralopathic Epilepsy 39
1791 TRN030 Transient Erythroblastopenia of Childhood 38
1792 TRC097 Tracheomalacia 38
1793 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 38
1794 ORN001 Ornithosis 38
1795 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 37
1796 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 37
1797 P SPR013 Spiradenoma 37
1798 P ANT061 Antenatal Bartter Syndrome 37
1799 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 37
1800 SPS004 Spastic Quadriplegia 36
1801 c MYS011 Myasthenia Gravis Congenital 36
1802 P LTT001 Lattice Corneal Dystrophy 36
1803 ELS002 Elastosis Perforans Serpiginosa 36
1804 LTR009 Lateral Meningocele Syndrome 36
1805 c PRM038 Primary Agammaglobulinemia 36
1806 LNG040 Langer Mesomelic Dysplasia 35
1807 c AML061 Amelogenesis Imperfecta, Type Ie 35
1808 c SPH014 Spherocytosis, Type 2 35
1809 KGM001 Kagami-Ogata Syndrome 35
1810 PLT007 Palatopharyngeal Incompetence 35
1811 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 35
1812 P HVY001 Heavy Chain Disease 35
1813 c JVN038 Juvenile Myasthenia Gravis 35
1814 PCH002 Pachygyria 35
1815 P STR035 Streptococcal Group a Invasive Disease 35
1816 CYT004 Cytomegalic Inclusion Disease 34
1817 SPR034 Superior Limbic Keratoconjunctivitis 34
1818 c CRN236 Corneal Dystrophy, Lattice Type I 34
1819 CRB070 Cerebral Folate Deficiency 34
1820 PNC059 Punctate Inner Choroidopathy 33
1821 PRT048 Partial Atrioventricular Canal 33
1822 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
1823 48X003 48,xxyy Syndrome 33
1824 c HNT011 Huntington Disease-Like 3 33
1825 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 32
1826 LPS020 Lipase Deficiency, Combined 32
1827 STY001 Satoyoshi Syndrome 32
1828 PRP038 Properdin Deficiency, X-Linked 32
1829 NPP006 Nipples, Supernumerary 31
1830 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 31
1831 c ATS307 Autosomal Recessive Cerebellar Ataxia 31
1832 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 31
1833 CYT018 Cytochrome P450 2d6 Variant 31
1834 c ALP087 Alpha-Heavy Chain Disease 30
1835 FXF002 Fox-Fordyce Disease 30
1836 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1837 CMP035 Complete Atrioventricular Canal 30
1838 ASH001 Asherman's Syndrome 30
1839 KLB005 Kleeblattschaedel 30
1840 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 30
1841 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 29
1842 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 29
1843 DGL002 D-Glyceric Aciduria 29
1844 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 29
1845 DFN038 Dfnb1 29
1846 LCT017 Lactate Dehydrogenase B Deficiency 28
1847 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
1848 c AGM013 Agammaglobulinemia 1, Autosomal Recessive 28
1849 c MCL059 Macular Dystrophy, Patterned, 1 28
1850 c MCL070 Macular Dystrophy, Patterned, 3 28
1851 DLF001 Dieulafoy Lesion 28
1852 FRC005 Fructosuria, Essential 28
1853 KR001 Koro 27
1854 RCM003 Recombinant Chromosome 8 Syndrome 27
1855 c ACQ016 Acquired Pure Red Cell Aplasia 27
1856 STN013 Stenotrophomonas Maltophilia Infection 27
1857 c HYP248 Hyperprolinemia, Type I 27
1858 GLD003 Goldmann-Favre Syndrome 27
1859 RNG030 Ringed Hair 26
1860 MLG078 Malignant Pineal Area Germ Cell Neoplasm 26
1861 CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 26
1862 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 26
1863 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 26
1864 PTN004 Patent Ductus Venosus 26
1865 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 26
1866 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 26
1867 P RCR026 Recurrent Hydatidiform Mole 26
1868 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 26
1869 HGH020 High Molecular Weight Kininogen Deficiency 25
1870 c HMG004 Hemoglobin D Disease 25
1871 16Q001 16q24.3 Microdeletion Syndrome 25
1872 CYS045 Cystinosis, Adult Nonnephropathic 25
1873 c BRT028 Brittle Cornea Syndrome 1 25
1874 c PRC047 Precocious Puberty, Central, 1 25
1875 2Q3001 2q37 Deletion Syndrome 25
1876 c HMG029 Hemoglobin Se Disease 25
1877 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 25
1878 LGP003 Logopenic Progressive Aphasia 25
1879 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 25
1880 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 25
1881 HRL002 Harlequin Syndrome 24
1882 P ART034 Aortopulmonary Window 24
1883 c EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 24
1884 CRL001 Cerulean Cataract 24
1885 PLR025 Pleuroparenchymal Fibroelastosis 24
1886 MRC001 Marchiafava Bignami Disease 24
1887 c ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 24
1888 RFS003 Refsum Disease, Infantile Form 24
1889 c SYS066 Systemic Polyarteritis Nodosa 24
1890 BRT037 Brittle Diabetes 23
1891 CHR167 Chorioretinal Atrophy, Progressive Bifocal 23
1892 PSD043 Pseudopelade of Brocq 23
1893 BNT001 Banti's Syndrome 23
1894 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1895 RNL089 Renal Nutcracker Syndrome 22
1896 PNS014 Penis Agenesis 22
1897 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
1898 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 22
1899 HMC016 Homocystinuria Due to Cbs Deficiency 22
1900 c ADL084 Adult-Onset Myasthenia Gravis 22
1901 AND005 Androgen Insensitivity Syndrome, Mild 22
1902 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 22
1903 c TRM024 Tremor, Hereditary Essential, 1 21
1904 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 21
1905 c LTT008 Lattice Corneal Dystrophy Type Ii 21
1906 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 21
1907 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
1908 c AGM021 Agammaglobulinemia 2, Autosomal Recessive 21
1909 c AGM022 Agammaglobulinemia 3, Autosomal Recessive 21
1910 AML051 Aml with Myelodysplasia-Related Features 21
1911 c MCL071 Macular Dystrophy, Patterned, 2 21
1912 P CHR200 Chromosome 16 Trisomy 21
1913 P PTT054 Patterned Macular Dystrophy 21
1914 c AGM020 Agammaglobulinemia 6, Autosomal Recessive 20
1915 P CLL020 Collagenopathy Type 2 Alpha 1 20
1916 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 20
1917 TRN067 Transcobalamin I Deficiency 20
1918 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20
1919 P HRT017 Heart Tumor 20
1920 ACT176 Acute Panmyelosis with Myelofibrosis 20
1921 PSD079 Pseudoangiomatous Stromal Hyperplasia 20
1922 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 20
1923 NWN001 New-Onset Refractory Status Epilepticus 20
1924 c RNG021 Ring Chromosome 5 20
1925 HHV001 Hhv-6 Encephalitis 20
1926 c AML050 Amelogenesis Imperfecta, Type if 20
1927 c PRC046 Precocious Puberty, Central, 2 20
1928 c RNG019 Ring Chromosome 3 20
1929 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 19
1930 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 19
1931 c AML018 Amelogenesis Imperfecta, Type Ic 19
1932 ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 19
1933 c AGM015 Agammaglobulinemia 7, Autosomal Recessive 19
1934 PRV008 Parvovirus Antenatal Infection 19
1935 RTN123 Retinochoroidal Coloboma 19
1936 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 19
1937 c RNG006 Ring Chromosome 11 19
1938 PPL053 Papillomatosis, Florid, of Nipple 19
1939 46X011 46, Xy Disorders of Sexual Development 18
1940 MLN018 Moloney Syndrome 18
1941 CCN012 Cocaine Antenatal Exposure 18
1942 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 18
1943 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 18
1944 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 17
1945 SYP004 Syphilitic Aseptic Meningitis 17
1946 MYX011 Myxozoa 17
1947 ANT040 Anton's Syndrome 16
1948 XLN128 X-Linked Intellectual Disability, Abidi Type 16
1949 c HNT013 Huntington Disease-Like Syndrome 16
1950 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 15
1951 KFF001 Kifafa Seizure Disorder 15
1952 c RNG014 Ring Chromosome 19 15
1953 c RNG011 Ring Chromosome 16 14
1954 BRS103 Bier Spots 14
1955 ADC005 Adcy5-Related Dyskinesia 14
1956 PSY015 Psychosocial Short Stature 14
1957 CHR254 Chromosome 5q Duplication 13
1958 CHR556 Chromosome 3q Duplication 13
1959 c FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 13
1960 c INF151 Infectious Panuveitis 13
1961 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 12
1962 PCR003 Pauciarticular Onset Juvenile Idiopathic Arthritis 12
1963 PSD044 Pseudopolycythaemia 12
1964 c PRM222 Primary Polyarteritis Nodosa 12
1965 MD1003 Med13l Haploinsufficiency Syndrome 12
1966 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 12
1967 HRY007 Hairy Palms and Soles 11
1968 P PSD036 Pseudoinflammatory Fundus Dystrophy 11
1969 URT041 Urethral Obstruction Sequence 11
1970 KLM001 Klumpke Paralysis 11
1971 c ATS379 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 11
1972 c SYN073 Syngap1-Related Intellectual Disability 11
1973 c CNG455 Congenital Aortopulmonary Window 11
1974 WND003 Windblown Hand 11
1975 CHR213 Chromosome 18p Tetrasomy 10
1976 c RNL048 Renal Tubular Acidosis, Distal, Type 3 10
1977 c SCN039 Secondary Central Precocious Puberty 10
1978 c ALP081 Alopecia Intellectual Disability Syndrome 2 10
1979 JNS005 Jones Hersh Yusk Syndrome 10
1980 OST034 Osteogenesis Imperfecta Levin Type 10
1981 TRC060 Trichoscyphodysplasia 10
1982 c KRN003 Kernicterus Due to Isoimmunization 9
1983 WLM003 Wilms Tumor and Radial Bilateral Aplasia 9
1984 RRN002 Rare Intellectual Disability Without Developmental Anomaly 9
1985 JRG001 Jorgenson Lenz Syndrome 9
1986 ART048 Arthrogryposis Multiplex Congenita Whistling Face 8
1987 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8
1988 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1989 INT270 Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome 8
1990 ZSK001 Zuska's Disease 8
1991 c SCN055 Secondary Polyarteritis Nodosa 8
1992 BRN058 Brunsting-Perry Syndrome 8
1993 3LP001 3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency 8
1994 TNG005 Tang Hsi Ryu Syndrome 8
1995 FRM006 Formaldehyde Poisoning 7
1996 c CLL016 Collagenopathy, Types Ii and Xi 7
1997 JVN017 Juvenile Macular Degeneration and Hypotrichosis 7
1998 c PRM287 Primary Adult Heart Tumor 7
1999 c SYN013 Syne1-Related Autosomal Recessive Cerebellar Ataxia 7
2000 JDG001 Judge Misch Wright Syndrome 7
2001 MYK001 Myokymia with Neonatal Epilepsy 7
2002 WDM002 Wiedemann Oldigs Oppermann Syndrome 7
2003 SCK006 Sackey Sakati Aur Syndrome 6
2004 SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 6
2005 c CNG534 Congenital Cerebellar Ataxia Due to Rnu12 Mutation 5
2006 10Q003 10q22.3q23 Microdeletion Syndrome 5
2007 OCL028 Oculo Digital Syndrome 5
2008 GTT003 Gait Ataxia with Late Onset Polyneuropathy Syndrome 4
2009 PRT106 Partial Duplication of the Short Arm of Chromosome X 4
2010 P PRT008 Proteus Syndrome 69
2011 CHD001 Chediak-Higashi Syndrome 68
2012 c SYS004 Systemic Mastocytosis 67
2013 ADL030 Adult-Onset Still's Disease 67
2014 CYS013 Cystinuria 65
2015 DBT083 Diabetes Mellitus, Permanent Neonatal 62
2016 P LTR001 Lateral Sclerosis 60
2017 P STR022 Stargardt Disease 59
2018 c PCH015 Pachyonychia Congenita 1 57
2019 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
2020 P LDD007 Liddle Syndrome 1 56
2021 ACR011 Acromesomelic Dysplasia, Maroteaux Type 55
2022 WHM001 Whim Syndrome 54
2023 PNM010 Pneumothorax, Primary Spontaneous 54
2024 CCT002 Cicatricial Pemphigoid 53
2025 P SCH018 Schizencephaly 53
2026 c STR084 Stargardt Disease 1 52
2027 ALP097 Alopecia Universalis Congenita 52
2028 DSM007 Desmoplastic Small Round Cell Tumor 50
2029 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
2030 PRN038 Prune Belly Syndrome 49
2031 P SCL048 Sclerosteosis 49
2032 SYD002 Sydenham Chorea 46
2033 LCK001 Locked-in Syndrome 46
2034 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
2035 ICH020 Ichthyosis Prematurity Syndrome 45
2036 ADP001 Adiposis Dolorosa 45
2037 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 43
2038 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 43
2039 P MSC022 Mosaic Variegated Aneuploidy Syndrome 43
2040 c SCL042 Sclerosteosis 2 43
2041 c SPN330 Spondylocostal Dysostosis 5 41
2042 SPR126 Superior Semicircular Canal Dehiscence 41
2043 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 41
2044 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 41
2045 DYG001 Dyggve-Melchior-Clausen Disease 40
2046 AND001 Anodontia 39
2047 c ANT086 Anterior Segment Dysgenesis 2 39
2048 MLY001 Molybdenum Cofactor Deficiency 39
2049 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 38
2050 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 38
2051 c PCH012 Pachyonychia Congenita 2 38
2052 ADN022 Adenylosuccinase Deficiency 38
2053 DCR008 Dicarboxylic Aminoaciduria 38
2054 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 37
2055 PRL047 Prolonged Electroretinal Response Suppression 36
2056 c SCL045 Sclerosteosis 1 35
2057 c PCH010 Pachyonychia Congenita 3 35
2058 TMP011 Temple-Baraitser Syndrome 34
2059 ANR010 Aneurysm of Sinus of Valsalva 33
2060 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 33
2061 MRC004 Murcs Association 32
2062 ACT032 Acute Hemorrhagic Leukoencephalitis 31
2063 MCP039 Mucoepithelial Dysplasia, Hereditary 31
2064 24D001 2,4-Dienoyl-Coa Reductase Deficiency 31
2065 TRC118 Trichodentoosseous Syndrome 31
2066 MCR025 Microhydranencephaly 30
2067 PST044 Postorgasmic Illness Syndrome 27
2068 c PCH011 Pachyonychia Congenita 4 27
2069 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 26
2070 c OMD002 Omodysplasia 2 26
2071 c STR040 Stargardt Disease 3 25
2072 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 24
2073 SNC001 Sunct Headache 23
2074 LPS019 Lupus Erythematosus Tumidus 23
2075 c LDD008 Liddle Syndrome 2 23
2076 ABR001 Aberrant Subclavian Artery 22
2077 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 21
2078 INF043 Infantile Apnea 21
2079 ODN020 Odontoma-Dysphagia Syndrome 21
2080 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 21
2081 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 21
2082 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 21
2083 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 20
2084 SVR009 Seaver Cassidy Syndrome 20
2085 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 20
2086 c STR054 Stargardt Disease 4 19
2087 c ACQ050 Acquired Schizencephaly 19
2088 UPN001 Upington Disease 18
2089 BBB001 Bobble-Head Doll Syndrome 18
2090 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 16
2091 VLN001 Valinemia 16
2092 DHL001 Dahlberg Borer Newcomer Syndrome 9
2093 c LDD009 Liddle Syndrome 3 9
2094 c TBR025 Tuberous Sclerosis 1 72
2095 P TTR001 Tetralogy of Fallot 71
2096 WRN001 Werner Syndrome 70
2097 P ALC004 Alcohol Abuse 69
2098 MXD005 Mixed Connective Tissue Disease 65
2099 P HYP098 Hypereosinophilic Syndrome 65
2100 P MYP004 Myopathy 63
2101 LNN001 Lennox-Gastaut Syndrome 60
2102 ART001 Arterial Tortuosity Syndrome 60
2103 OCL020 Ocular Cicatricial Pemphigoid 59
2104 ELL001 Ellis-Van Creveld Syndrome 59
2105 SMT008 Smith-Magenis Syndrome 58
2106 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 58
2107 P WRD001 Waardenburg's Syndrome 58
2108 c WRD030 Waardenburg Syndrome, Type 1 56
2109 RLP001 Relapsing Polychondritis 56
2110 CTS003 Coats Disease 55
2111 P HYP024 Hypoparathyroidism 54
2112 EBS001 Ebstein Anomaly 54
2113 c MYP132 Myopathy, Congenital 54
2114 PSD007 Pseudomyxoma Peritonei 53
2115 HLC001 Holocarboxylase Synthetase Deficiency 53
2116 ONC002 Onchocerciasis 53
2117 P LRS001 Larsen Syndrome 53
2118 ESN015 Eosinophilic Fasciitis 52
2119 ARM001 Aromatase Deficiency 52
2120 ELS001 Eales Disease 52
2121 OCC006 Occipital Horn Syndrome 52
2122 GLC036 Glucagonoma 51
2123 BWN001 Bowen-Conradi Syndrome 51
2124 PRP007 Priapism 51
2125 LST001 Listeriosis 50
2126 PNC056 Pineocytoma 50
2127 NLS001 Nelson Syndrome 50
2128 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 49
2129 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 49
2130 GLD006 Goldberg-Shprintzen Syndrome 49
2131 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 49
2132 PRG033 Progressive Non-Fluent Aphasia 49
2133 EVN001 Evans' Syndrome 48
2134 P HRN001 Horner's Syndrome 48
2135 ANC001 Ancylostomiasis 48
2136 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 48
2137 PPL021 Papilledema 48
2138 P MTH007 Methemoglobinemia 48
2139 P ALP074 Alport Syndrome, Autosomal Dominant 47
2140 P MRD002 Marden-Walker Syndrome 47
2141 c PSR021 Psoriasis 14, Pustular 47
2142 PTT041 Pituitary Stalk Interruption Syndrome 47
2143 P HRD018 Hair Disease 46
2144 MYP100 Myopathy, X-Linked, with Excessive Autophagy 46
2145 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 46
2146 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 46
2147 CRP032 Corpus Callosum, Agenesis of 45
2148 BRB001 Beriberi 45
2149 CRT046 Corticosteroid-Binding Globulin Deficiency 45
2150 P CHN044 Chondrodysplasia Punctata Syndrome 44
2151 CTS005 Catastrophic Antiphospholipid Syndrome 44
2152 c BRC081 Brachydactyly, Type C 44
2153 ACT029 Acute Interstitial Pneumonia 44
2154 BTT001 Bietti Crystalline Corneoretinal Dystrophy 43
2155 c USH038 Usher Syndrome, Type Iiia 43
2156 BRD001 Brody Myopathy 43
2157 c LTH008 Lethal Congenital Contracture Syndrome 2 43
2158 ARC007 Arachnoid Cysts 42
2159 PGT003 Paget Disease, Extramammary 42
2160 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
2161 JLL001 Jalili Syndrome 41
2162 HYP236 Hyperbilirubinemia, Rotor Type 41
2163 HRT040 Hirata Disease 41
2164 P CNG024 Congenital Nystagmus 40
2165 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 40
2166 ACT209 Acatalasemia 40
2167 CRY008 Cryopyrin-Associated Periodic Syndrome 40
2168 RHY001 Rhyns Syndrome 39
2169 P SYN012 Synpolydactyly 38
2170 FRN039 Frank-Ter Haar Syndrome 38
2171 c SPR119 Spermatogenic Failure, X-Linked, 1 38
2172 RTC001 Reticulohistiocytic Granuloma 38
2173 VBR001 Vibratory Urticaria 38
2174 KFM001 Kaufman Oculocerebrofacial Syndrome 37
2175 EMN001 Emanuel Syndrome 37
2176 c LTH007 Lethal Congenital Contracture Syndrome 1 37
2177 c GRS012 Griscelli Syndrome, Type 3 37
2178 c EPP012 Epiphyseal Dysplasia, Multiple, 2 37
2179 WYR002 Weyers Acrofacial Dysostosis 37
2180 EMP011 Emphysema, Congenital Lobar 36
2181 HSH004 Hashimoto Encephalopathy 36
2182 SSC001 Susac Syndrome 36
2183 FMR004 Fumarase Deficiency 35
2184 c PRM149 Primary Hypereosinophilic Syndrome 35
2185 CRR017 Curry-Jones Syndrome 35
2186 LTH002 Lathosterolosis 35
2187 BNB002 Bainbridge-Ropers Syndrome 35
2188 49X002 49,xxxxy Syndrome 35
2189 LMB008 Limb-Mammary Syndrome 34
2190 CHR582 Chromosome 3q29 Duplication Syndrome 33
2191 IDP031 Idiopathic Hypersomnia 33
2192 c MLG036 Malignant Spiradenoma 33
2193 P ACT232 Acute Necrotizing Encephalopathy 33
2194 c INT274 Intermediate Congenital Nemaline Myopathy 32
2195 MYL074 Myelodysplastic Syndrome with Excess Blasts 32
2196 P SPR093 Spermatogenic Failure, Y-Linked, 2 32
2197 PLY117 Polymicrogyria, Bilateral Frontoparietal 31
2198 c ACQ047 Acquired Methemoglobinemia 31
2199 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 31
2200 OCL063 Oculopharyngodistal Myopathy 31
2201 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 31
2202 c ATM068 Autoimmune Hypoparathyroidism 30
2203 P PLT008 Pili Torti 30
2204 MTP028 Metaphyseal Dysplasia, Spahr Type 30
2205 c HRD146 Hereditary Methemoglobinemia 29
2206 c ATL012 Atelosteogenesis, Type Iii 29
2207 MCR039 Macrophagic Myofasciitis 29
2208 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 29
2209 CSN001 Cousin Syndrome 28
2210 P RTN034 Retinal Cone Dystrophy 3a 28
2211 c SYN084 Synpolydactyly 1 28
2212 c RTN035 Retinal Cone Dystrophy 3b 28
2213 ACR102 Acrorenal-Mandibular Syndrome 28
2214 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
2215 MCR257 Microcephaly, Amish Type 28
2216 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
2217 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 27
2218 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 27
2219 HYD030 Hydroxykynureninuria 27
2220 c CNG223 Congenital Methemoglobinemia 27
2221 c ATS270 Autosomal Dominant Café Au Lait Spots 27
2222 PLL004 Pallister W Syndrome 27
2223 MSC016 Mosaic Trisomy 14 27
2224 5XP001 5-Oxoprolinase Deficiency 26
2225 FTL064 Fetal Methylmercury Syndrome 26
2226 GLT011 Glutamine Deficiency, Congenital 26
2227 ZTT001 Zttk Syndrome 26
2228 ACR037 Acromegaloid Facial Appearance Syndrome 26
2229 P KRT014 Keratosis Follicularis Spinulosa Decalvans 26
2230 CDG001 Cdags Syndrome 25
2231 CHR391 Chromosome 15q24 Deletion Syndrome 25
2232 c NYS017 Nystagmus 1, Congenital, X-Linked 25
2233 GRR002 Gurrieri Syndrome 24
2234 OCL030 Oculoauriculofrontonasal Syndrome 24
2235 AMN014 Aminopterin Syndrome Sine Aminopterin 24
2236 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 24
2237 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 24
2238 NTR036 Neutropenia, Severe Congenital, X-Linked 24
2239 c ALC016 Alcohol Sensitivity, Acute 23
2240 c PLT022 Pili Torti, Early-Onset 23
2241 HTR005 Heterochromia Iridis 23
2242 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
2243 BRN123 Branchial Arch Syndrome, X-Linked 23
2244 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
2245 P XLN065 X-Linked Infantile Nystagmus 22
2246 MNR004 Mounier-Kuhn Syndrome 22
2247 NRF010 Neurofaciodigitorenal Syndrome 22
2248 c HRN024 Horner Syndrome, Congenital 22
2249 NNN007 Non-Involuting Congenital Hemangioma 22
2250 ACK001 Ackerman Syndrome 22
2251 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 22
2252 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 22
2253 SLC003 Selective Igm Deficiency Disease 22
2254 RHZ008 Rhizomelic Syndrome 21
2255 CLB011 Coloboma of Macula with Type B Brachydactyly 21
2256 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 21
2257 EPL011 Epilepsy, Benign Occipital 21
2258 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 21
2259 c SYN088 Synpolydactyly 2 21
2260 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
2261 KYR001 Kyrle Disease 21
2262 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 20
2263 SMM003 Summitt Syndrome 20
2264 KNS006 Kniest-Like Dysplasia, Lethal 20
2265 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 20
2266 MCR303 Macrosomia with Microphthalmia, Lethal 20
2267 MSM019 Mesomelic Dysplasia, Savarirayan Type 20
2268 ERM001 Ermine Phenotype 20
2269 RTH002 Rutherfurd Syndrome 20
2270 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 20
2271 MCD004 Macdermot-Winter Syndrome 20
2272 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20
2273 CRN083 Craniofacial Dyssynostosis 20
2274 BSL042 Basilar Impression, Primary 20
2275 HYD050 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 19
2276 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
2277 PYT001 Pythiosis 19
2278 c BLL009 Bullous Dystrophy Hereditary Macular Type 19
2279 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
2280 SHR023 Short Stature Syndrome, Brussels Type 19
2281 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
2282 THK001 Thakker-Donnai Syndrome 19
2283 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 18
2284 KZL006 Kozlowski-Krajewska Syndrome 18
2285 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 18
2286 ADN028 Adenosarcoma of the Uterus 18
2287 FBL014 Fibular Hemimelia 18
2288 HRT033 Heart-Hand Syndrome, Spanish Type 18
2289 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
2290 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 18
2291 c SPR091 Spermatogenic Failure, X-Linked, 2 18
2292 LBN003 Lubinsky Syndrome 18
2293 c GNR020 Gne-Related Myopathy 18
2294 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 18
2295 c PSR022 Psoriasis 15, Pustular 18
2296 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 18
2297 c NYS012 Nystagmus 5, Congenital, X-Linked 17
2298 CNG529 Congenital Femoral Deficiency 17
2299 ULR001 Ulerythema Ophryogenesis 17
2300 OST047 Osteopenia and Sparse Hair 17
2301 IMM137 Immunodeficiency with Thymoma 17
2302 c HRN019 Hair-an Syndrome 17
2303 BKS002 Book Syndrome 17
2304 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 17
2305 ARC009 Auriculoosteodysplasia 17
2306 RDL029 Radial Ray Hypoplasia with Choanal Atresia 17
2307 c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 17
2308 PFF010 Pfeiffer-Palm-Teller Syndrome 17
2309 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17
2310 P FML048 Familial Avascular Necrosis of the Femoral Head 17
2311 OST058 Osteopoikilosis and Dacryocystitis 17
2312 c CNG121 Congenital Pulmonary Alveolar Proteinosis 17
2313 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 17
2314 c NYS013 Nystagmus 6, Congenital, X-Linked 17
2315 FTL018 Fetal Indomethacin Syndrome 16
2316 PLY127 Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome 16
2317 16P004 16p13.11 Microduplication Syndrome 16
2318 SPN120 Spondylocamptodactyly 16
2319 DFN307 Deafness-Oligodontia Syndrome 16
2320 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 16
2321 20P001 20p12.3 Microdeletion Syndrome 16
2322 c ACT229 Acute Necrotizing Encephalopathy Type 1 16
2323 ZP7002 Zap-70 Deficiency 16
2324 PRS119 Persistent Genital Arousal Disorder 15
2325 ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 15
2326 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
2327 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 15
2328 MNT028 Mental Retardation Smith Fineman Myers Type 15
2329 BMF002 Bamforth Syndrome 15
2330 c CNG336 Congenital Analbuminemia 15
2331 FMR007 Femur Bifid with Monodactylous Ectrodactyly 15
2332 c SPR092 Spermatogenic Failure, Y-Linked, 1 15
2333 ACR027 Acrodysplasia Scoliosis 14
2334 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 14
2335 MGL007 Megalocytic Interstitial Nephritis 14
2336 TLN013 Telangiectasia Macularis Eruptive Perstans 14
2337 c SYN040 Synpolydactyly 3 14
2338 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 14
2339 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14
2340 BRT013 Baritosis 14
2341 c FML258 Familial Acute Necrotizing Encephalopathy 13
2342 P STM009 Stomatocytosis I 13
2343 DYS053 Dystelephalangy 13
2344 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 13
2345 HYP668 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome 13
2346 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 13
2347 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
2348 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 13
2349 c FRM005 Frmd7-Related Infantile Nystagmus 13
2350 P BLL013 Bullous Dystrophy, Macular Type 12
2351 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 12
2352 HYD056 Hydrocephalus-Cleft Palate-Joint Contractures Syndrome 12
2353 DNT019 Daentl Towsend Siegel Syndrome 12
2354 ARR002 Arrhinia 12
2355 INT090 Intellectual Deficit Buenos-Aires Type 11
2356 VLJ001 Viljoen Kallis Voges Syndrome 11
2357 HND010 Handigodu Disease 11
2358 ALG003 Al Gazali Aziz Salem Syndrome 11
2359 TTR006 Tetraamelia Multiple Malformations X-Linked 10
2360 MCR035 Macrodactyly of the Hand 10
2361 HYP145 Hyperbetaalaninemia 10
2362 WLL007 Wells-Jankovic Syndrome 10
2363 c NYS019 Nystagmus, Congenital, Autosomal Recessive 10
2364 VRL015 Verloes Van Maldergem Marneffe Syndrome 10
2365 c MTH084 Methemoglobinemia, Alpha Type 10
2366 STK001 Saito Kuba Tsuruta Syndrome 10
2367 VRL016 Verloove Vanhorick Brubakk Syndrome 10
2368 AYZ001 Ayazi Syndrome 9
2369 TLF001 Telfer Sugar Jaeger Syndrome 9
2370 GMF001 Game Friedman Paradice Syndrome 9
2371 NTT001 Not Otherwise Specified 3-Mga-Uria Type 9
2372 CHD003 Chudley Rozdilsky Syndrome 9
2373 c MTH083 Methemoglobinemia, Beta Type 9
2374 MCH009 Michels Caskey Syndrome 9
2375 SYF001 Say-Field-Coldwell Syndrome 9
2376 SYM004 Say Meyer Syndrome 9
2377 PRG024 Progeroid Syndrome Petty Type 9
2378 BTT012 Battaglia-Neri Syndrome 8
2379 BRK006 Bork Stender Schmidt Syndrome 8
2380 ODN003 O Donnell Pappas Syndrome 8
2381 MNV001 Manouvrier Syndrome 8
2382 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
2383 TCK005 Tucker Syndrome 8
2384 RZN001 Rozin Hertz Goodman Syndrome 8
2385 P APL009 Aplasia Cutis Congenita of Limbs Recessive 8
2386 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
2387 SLC010 Salcedo Syndrome 8
2388 SPL017 Splenogonadal Fusion Limb Defects Micrognatia 8
2389 CHT002 Chitayat Meunier Hodgkinson Syndrome 8
2390 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
2391 HMN015 Hamanishi Ueba Tsuji Syndrome 8
2392 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 8
2393 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
2394 MSM005 Mesomelic Dwarfism Cleft Palate Camptodactyly 7
2395 YRF001 Yorifuji Okuno Syndrome 7
2396 c SCN042 Secondary Hypereosinophilic Syndrome 7
2397 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
2398 HRR001 Harrod Doman Keele Syndrome 7
2399 MGL005 Megalocornea - Spherophakia - Secondary Glaucoma 7
2400 JHN005 Johnston Aarons Schelley Syndrome 7
2401 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 7
2402 PLL007 Pillay Syndrome 6
2403 SYB001 Say Barber Miller Syndrome 6
2404 INT089 Intellectual Deficit - Short Stature - Hypertelorism 6
2405 JHN003 Johnson Munson Syndrome 6
2406 WRM002 Warman Mulliken Hayward Syndrome 6
2407 DSH001 Daish Hardman Lamont Syndrome 6
2408 SVR061 Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 6
2409 ICH021 Ichthyosis Tapered Fingers Midline Groove Up 6
2410 CYS023 Cystic Medial Necrosis of Aorta 5
2411 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
2412 MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 5
2413 P MYC084 Mycobacterium Tuberculosis 1 74
2414 DWN001 Down Syndrome 72
2415 c ART115 Aortic Valve Disease 1 71
2416 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 70
2417 PRT037 Pertussis 68
2418 KRT019 Keratitis, Hereditary 67
2419 SZR001 Sezary's Disease 67
2420 TYP007 Typhoid Fever 67
2421 c HPT073 Hepatitis C Virus 67
2422 P CNG001 Congenital Myasthenic Syndrome 67
2423 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 66
2424 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
2425 c ART101 Aortic Valve Disease 2 65
2426 P CRN037 Craniosynostosis 64
2427 c CHL119 Cholangitis, Primary Sclerosing 63
2428 P BRG001 Brugada Syndrome 62
2429 RHM001 Rheumatic Fever 62
2430 CMP010 Complex Regional Pain Syndrome 62
2431 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
2432 c ATM011 Autoimmune Hepatitis 61
2433 BDD001 Budd-Chiari Syndrome 61
2434 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
2435 MNK003 Muenke Syndrome 61
2436 HPT019 Hepatic Encephalopathy 60
2437 P MTR004 Maturity-Onset Diabetes of the Young 60
2438 PLM031 Poliomyelitis 59
2439 c RHB024 Rhabdomyosarcoma 2 59
2440 P MYP006 Myopia 58
2441 P OCL002 Oculocutaneous Albinism 58
2442 CHL067 Cholecystitis 58
2443 PBL005 Piebald Trait 58
2444 P RHB003 Rhabdomyosarcoma 57
2445 c AMY009 Amyloidosis Aa 56
2446 P VNB005 Van Buchem Disease 56
2447 BRN045 Brunner Syndrome 55
2448 MNR012 Meniere Disease 55
2449 TBR011 Tuberculous Meningitis 55
2450 PRR016 Pierre Robin Syndrome 55
2451 ANT039 Antisynthetase Syndrome 55
2452 BRL010 Buruli Ulcer 54
2453 P RST001 Restless Legs Syndrome 54
2454 P SCL009 Sclerosing Cholangitis 54
2455 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
2456 P ESN008 Eosinophilic Pneumonia 54
2457 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
2458 P HML001 Hemolytic-Uremic Syndrome 53
2459 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
2460 P OLV001 Olivopontocerebellar Atrophy 53
2461 PRS034 Parasitic Helminthiasis Infectious Disease 53
2462 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52
2463 CYC008 Cyclic Vomiting Syndrome 52
2464 ATR002 Atransferrinemia 52
2465 JCK001 Jackson-Weiss Syndrome 52
2466 CFF003 Caffey Disease 52
2467 BBS001 Babesiosis 51
2468 CMR002 Coumarin Resistance 51
2469 TRC012 Trichuriasis 51
2470 CHR101 Char Syndrome 51
2471 P ISL078 Isolated Ectopia Lentis 51
2472 c BRC109 Brachydactyly, Type E1 51
2473 P FNC004 Fanconi Syndrome 50
2474 MLL018 Miller-Dieker Lissencephaly Syndrome 50
2475 c DMN023 Diamond-Blackfan Anemia 1 50
2476 3MC003 3mc Syndrome 49
2477 P KRT007 Keratoconus 49
2478 IRK001 Irak4 Deficiency 49
2479 CTS002 Cat-Scratch Disease 49
2480 P AFB001 Afibrinogenemia 49
2481 c HYP739 Hyperlipoproteinemia, Type Iv 49
2482 c HRD039 Hereditary Amyloidosis 49
2483 STS002 Situs Inversus 49
2484 FCL022 Focal Dystonia 48
2485 ACR041 Acromelic Frontonasal Dysostosis 48
2486 CMP034 Complete Androgen Insensitivity Syndrome 48
2487 MRB001 Marburg Hemorrhagic Fever 48
2488 P TRT019 Torticollis 48
2489 P ART018 Aortic Valve Insufficiency 47
2490 c CHR095 Chronic Progressive External Ophthalmoplegia 47
2491 FRC001 Fructose-1,6-Bisphosphatase Deficiency 47
2492 CHR222 Chromosome 1p36 Deletion Syndrome 47
2493 CPL007 Capillary Malformation-Arteriovenous Malformation 46
2494 P DMY001 Demyelinating Polyneuropathy 46
2495 ALN001 Aland Island Eye Disease 46
2496 SDD008 Sudden Sensorineural Hearing Loss 46
2497 CRB150 Cerebral Creatine Deficiency Syndrome 2 46
2498 IDP064 Idiopathic Neutropenia 46
2499 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 46
2500 TST018 Testicular Yolk Sac Tumor 46
2501 CNT060 Central Serous Chorioretinopathy 45
2502 MYC013 Mycobacterium Abscessus 45
2503 c MYS051 Myasthenic Syndrome, Congenital, 5 45
2504 LCR004 La Crosse Encephalitis 45
2505 DFF037 Diffuse Intrinsic Pontine Glioma 45
2506 NRW001 Norwegian Scabies 45
2507 CHR211 Chromosome 18p Deletion Syndrome 45
2508 VLV042 Vulvar Vestibulitis Syndrome 45
2509 c MYP125 Myopathy, Distal, 1 44
2510 OPS001 Opisthorchiasis 44
2511 ASB001 Asbestosis 44
2512 MYC017 Mycobacterium Kansasii 44
2513 c ACQ042 Acquired Hemophilia a 44
2514 MLT152 Multiple Self-Healing Squamous Epithelioma 43
2515 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
2516 c LRS002 Larsen-Like Syndrome 43
2517 c MYS078 Myasthenic Syndrome, Congenital, 14 43
2518 ZKV001 Zika Virus Infection 42
2519 EHR002 Ehrlichiosis 42
2520 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
2521 P ANX007 Anauxetic Dysplasia 1 42
2522 c HYP575 Hypotrichosis 7 42
2523 CRR002 Currarino Syndrome 41
2524 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
2525 CNZ001 Coenzyme Q10 Deficiency Disease 41
2526 c CRN278 Craniosynostosis 1 41
2527 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
2528 TRN044 Transposition of the Great Arteries 41
2529 c BRG005 Brugada Syndrome 1 41
2530 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 40
2531 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
2532 SPT007 Spitz Nevus 40
2533 SPS005 Spastic Hemiplegia 39
2534 c MYC068 Myoclonic Epilepsy of Infancy 39
2535 PMP002 Pemphigoid Gestationis 39
2536 PYR016 Pyridoxine Deficiency 39
2537 c FNC059 Fanconi-Like Syndrome 39
2538 RTN072 Retinohepatoendocrinologic Syndrome 39
2539 CPM001 Cap Myopathy 39
2540 c MYS052 Myasthenic Syndrome, Congenital, 10 39
2541 47X003 47, Xxy 38
2542 P SMT022 Smith-Mccort Dysplasia 1 38
2543 APL017 Apolipoprotein C-Ii Deficiency 38
2544 c GM1005 Gm1-Gangliosidosis, Type Ii 37
2545 PTT002 Potter's Syndrome 37
2546 CRT020 Cortisone Reductase Deficiency 37
2547 WST002 Western Equine Encephalitis 37
2548 c HYP559 Hypotrichosis 8 37
2549 KSH001 Keshan Disease 37
2550 c HYP581 Hypotrichosis 6 37
2551 CTN013 Cutaneous Anthrax 37
2552 HMN002 Human Granulocytic Anaplasmosis 37
2553 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 36
2554 MYC014 Mycobacterium Chelonae 36
2555 MYC015 Mycobacterium Fortuitum 36
2556 IMM044 Immunoglobulin G Deficiency 36
2557 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 36
2558 INF046 Infantile Digital Fibromatosis 36
2559 LSS001 Loiasis 36
2560 INF129 Infantile Cerebellar-Retinal Degeneration 35
2561 MTT002 Metatropic Dysplasia 35
2562 JBR005 Joubert Syndrome with Ocular Anomalies 35
2563 HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 35
2564 PRP005 Parapsoriasis 35
2565 TRP004 Tropical Sprue 35
2566 MSC020 Mosaic Trisomy 8 35
2567 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
2568 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 34
2569 PRN029 Parainfluenza Virus Type 3 34
2570 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 34
2571 c MYS075 Myasthenic Syndrome, Congenital, 13 34
2572 CLC010 Calcifying Epithelial Odontogenic Tumor 34
2573 c BNG079 Benign Adult Familial Myoclonic Epilepsy 33
2574 TRD003 Taurodontism 33
2575 CYC002 Cyclosporiasis 33
2576 MCL018 Macular Dystrophy, Concentric Annular 33
2577 ANS003 Anisakiasis 33
2578 SPN221 Spina Bifida Occulta 33
2579 NNS011 Nonseminomatous Germ Cell Tumor 33
2580 GNT019 Giant Cell Myocarditis 33
2581 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 33
2582 c BRG007 Brugada Syndrome 5 32
2583 MNC011 Minicore Myopathy with External Ophthalmoplegia 32
2584 c HYP515 Hypotrichosis 3 32
2585 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 32
2586 c DMN021 Diamond-Blackfan Anemia 6 32
2587 c KNN009 Kenny-Caffey Syndrome, Type 1 32
2588 TBL025 Tubulointerstitial Nephritis with Uveitis 32
2589 c MYC083 Myoclonic Epilepsy, Familial Infantile 31
2590 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
2591 MSC021 Mosaic Trisomy 9 31
2592 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
2593 SPR038 Supranuclear Ocular Palsy 31
2594 GLN002 Glanders 30
2595 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
2596 UND007 Undifferentiated Connective Tissue Disease 30
2597 KYS001 Kyasanur Forest Disease 30
2598 c BRG006 Brugada Syndrome 2 30
2599 HYP364 Hyperostosis Frontalis Interna 30
2600 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 30
2601 c SYN061 Syndactyly, Type Iv 29
2602 MYC018 Mycobacterium Malmoense 29
2603 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
2604 c CRN277 Craniosynostosis 2 29
2605 SPR108 Suprabulbar Paresis, Congenital 28
2606 KYP002 Kyphomelic Dysplasia 28
2607 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
2608 PNC060 Punctate Porokeratosis 28
2609 RMN002 Ramon Syndrome 28
2610 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 28
2611 MYC021 Mycobacterium Xenopi 27
2612 P KNN002 Kenny-Caffey Syndrome 27
2613 c CRN281 Craniosynostosis 7 27
2614 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 27
2615 THY042 Thymic Epithelial Tumor 27
2616 c RST012 Restless Legs Syndrome 1 27
2617 P EPL198 Epilepsy, Myoclonic Juvenile 27
2618 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 27
2619 RMR001 Ramer Ladda Syndrome 27
2620 NNT018 Neonatal Herpes 26
2621 EF001 Eaf 26
2622 PLM061 Pulmonary Edema of Mountaineers 26
2623 c EPL210 Epilepsy, Progressive Myoclonic, 6 26
2624 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 26
2625 c RST020 Restless Legs Syndrome 6 26
2626 MD2001 Med23 26
2627 c HYP525 Hypotrichosis 2 26
2628 HMN001 Human Monocytic Ehrlichiosis 26
2629 c MYS076 Myasthenic Syndrome, Congenital, 8 25
2630 c DMN017 Diamond-Blackfan Anemia 10 25
2631 c KRT029 Keratoconus 1 25
2632 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 25
2633 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
2634 c DMN022 Diamond-Blackfan Anemia 9 25
2635 c MLG048 Malignant Acrospiroma 25
2636 DBL004 Double Discordia 25
2637 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 25
2638 MNS001 Mansonelliasis 25
2639 NNH002 Non-a-E Hepatitis 25
2640 c EPL155 Epilepsy, Progressive Myoclonic, 8 25
2641 FXC001 Foix Chavany Marie Syndrome 25
2642 NVR001 Nievergelt Syndrome 24
2643 c CNG129 Congenital Torticollis 24
2644 c OPT064 Optic Atrophy 11 24
2645 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
2646 WTS001 Watson Syndrome 24
2647 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 24
2648 c MYS074 Myasthenic Syndrome, Congenital, 12 24
2649 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 24
2650 MYC016 Mycobacterium Gordonae 24
2651 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 24
2652 c EPL134 Epilepsy, Progressive Myoclonic 7 24
2653 c DMN019 Diamond-Blackfan Anemia 4 24
2654 c DMN006 Diamond-Blackfan Anemia 3 24
2655 c CMR006 Camurati-Engelmann Disease, Type 2 24
2656 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
2657 c MYS064 Myasthenic Syndrome, Congenital, 16 23
2658 c DMN024 Diamond-Blackfan Anemia 7 23
2659 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
2660 c DMN018 Diamond-Blackfan Anemia 5 23
2661 PLY039 Polymorphic Reticulosis 23
2662 c ATX033 Ataxia-Oculomotor Apraxia 4 23
2663 c MLG148 Malignant Hyperthermia 2 23
2664 RTR012 Retroperitoneal Liposarcoma 23
2665 AMY018 Amyotonia Congenita 23
2666 c HYP597 Hyperprolinemia, Type Ii 23
2667 P ACR072 Acrorenal Syndrome 23
2668 c CRN221 Craniosynostosis 4 23
2669 PRL021 Perilymphatic Fistula 23
2670 PNS015 Penoscrotal Transposition 23
2671 c DMN005 Diamond-Blackfan Anemia 2 23
2672 c MLG149 Malignant Hyperthermia 3 23
2673 c MCL073 Macular Dystrophy, Vitelliform, 1 22
2674 c MYS070 Myasthenic Syndrome, Congenital, 19 22
2675 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 22
2676 CRT060 Cor Triatriatum Sinister 22
2677 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
2678 c MYS065 Myasthenic Syndrome, Congenital, 18 22
2679 c CRN256 Craniosynostosis 6 22
2680 c DMN029 Diamond-Blackfan Anemia 11 22
2681 NN2002 Non 24 Hour Sleep Wake Disorder 22
2682 P ACR049 Acrospiroma 22
2683 ANS017 Anosmia, Isolated Congenital 22
2684 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 22
2685 IRV001 Irvan Syndrome 22
2686 c MYP018 Myopia 6 22
2687 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
2688 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
2689 c MLG150 Malignant Hyperthermia 4 22
2690 HRS002 Hersh Podruch Weisskopk Syndrome 22
2691 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 21
2692 c DMN020 Diamond-Blackfan Anemia 8 21
2693 c BRG012 Brugada Syndrome 9 21
2694 c CRN217 Craniosynostosis 3 21
2695 c AGM018 Agammaglobulinemia, X-Linked, Type 2 21
2696 ALG026 Al-Gazali Syndrome 21
2697 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
2698 c MYS077 Myasthenic Syndrome, Congenital, 15 21
2699 INT095 Internal Carotid Agenesis 21
2700 BLC017 Black Hairy Tongue 21
2701 OCL043 Oculorenocerebellar Syndrome 21
2702 c MLG151 Malignant Hyperthermia 5 21
2703 c RTN032 Retinal Cone Dystrophy 1 20
2704 c BRG009 Brugada Syndrome 7 20
2705 LWS001 Lewis-Sumner Syndrome 20
2706 c DMN028 Diamond-Blackfan Anemia 12 20
2707 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
2708 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
2709 c SCN059 Secondary Sclerosing Cholangitis 20
2710 LGR001 Laugier-Hunziker Syndrome 20
2711 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 20
2712 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 20
2713 c MYP116 Myopathy, Distal, 5 20
2714 c GLM014 Glomerulopathy with Fibronectin Deposits 1 20
2715 c ANX008 Anauxetic Dysplasia 2 20
2716 c MYP095 Myopathy, Distal, 4 20
2717 HVY002 Heavy Metal Poisoning 19
2718 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
2719 c MYP112 Myopathy, Distal, 3 19
2720 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
2721 c BMN004 Biemond Syndrome Ii 19
2722 DYS038 Dysgnathia Complex 19
2723 ENT016 Enterovesical Fistula 19
2724 MSC017 Mosaic Trisomy 22 19
2725 c HRS034 Hirschsprung Disease 3 19
2726 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
2727 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 19
2728 c MYP074 Myopia 23, Autosomal Recessive 19
2729 THM005 Thumb Deformity 19
2730 c CRN216 Craniosynostosis 5 19
2731 c EPL217 Epilepsy, Juvenile Myoclonic 10 18
2732 c BRG010 Brugada Syndrome 8 18
2733 FTZ002 Fitz-Hugh-Curtis Syndrome 18
2734 CNG092 Congenital Extrahepatic Portosystemic Shunt 18
2735 c MYC086 Myoclonic Epilepsy, Juvenile 4 18
2736 RTN078 Retinoschisis of Fovea 18
2737 c VNB004 Van Buchem Disease, Type 2 18
2738 HYD031 Hydroxyprolinemia 18
2739 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 18
2740 MSC019 Mosaic Trisomy 7 18
2741 ATR017 Atrial Septal Defect Coronary Sinus 18
2742 CRT061 Cor Triatriatum Dexter 18
2743 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18
2744 c FCL050 Facial Paresis, Hereditary Congenital, 2 18
2745 SNR002 Sener Syndrome 18
2746 c MYP070 Myopia 21, Autosomal Dominant 18
2747 RDT004 Radiation Induced Brachial Plexopathy 18
2748 HYP689 Hypomelia with Mullerian Duct Anomalies 17
2749 c BRG008 Brugada Syndrome 6 17
2750 ANN018 Anonychia, Total, with Microcephaly 17
2751 c MLG152 Malignant Hyperthermia 6 17
2752 MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 17
2753 P HRD043 Hereditary Congenital Facial Paresis 17
2754 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 17
2755 SGR001 Sugarman Brachydactyly 17
2756 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
2757 c HRS027 Hirschsprung Disease 5 17
2758 RSM002 Rasmussen Johnsen Thomsen Syndrome