Rare Diseases Category (14558 diseases)


Including: rare
See other categories (disease lists)

# Family MCID Name MIFTS
1 c JBR027 Joubert Syndrome 16 39
2 HRD090 Harderoporphyria 28
3 FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 18
4 P PRS040 Prostate Cancer 97
5 c ALZ065 Alzheimer Disease, Familial, 1 87
6 c LKM061 Leukemia, Acute Myeloid 82
7 c MNN043 Meningioma, Familial 81
8 c DLT002 Dilated Cardiomyopathy 79
9 OTT002 Otitis Media 78
10 P LYN001 Lynch Syndrome 77
11 PHN003 Phenylketonuria 76
12 P ALG028 Alagille Syndrome 1 74
13 P DMN001 Diamond-Blackfan Anemia 74
14 P ASP006 Aspergillosis 73
15 VNH007 Von Hippel-Lindau Syndrome 73
16 P TYS001 Tay-Sachs Disease 71
17 MLT157 Multiple System Atrophy 1 71
18 MYL005 Myelofibrosis 71
19 DWN001 Down Syndrome 71
20 P HML033 Hemolytic Uremic Syndrome, Atypical 1 70
21 CST001 Costello Syndrome 70
22 P KRB001 Krabbe Disease 69
23 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
24 c HRD010 Hereditary Spastic Paraplegia 68
25 PLY001 Polycythemia Vera 68
26 DMN031 Dementia, Lewy Body 68
27 P CWD010 Cowden Syndrome 68
28 MLT163 Multiple Pterygium Syndrome, Escobar Variant 68
29 MLD001 Melioidosis 68
30 P GCH001 Gaucher's Disease 68
31 LYM007 Lymphangioleiomyomatosis 68
32 P OCL013 Oculodentodigital Dysplasia 67
33 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 67
34 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
35 P ALP004 Alport Syndrome 67
36 P CLC063 Celiac Disease 1 67
37 P MYP004 Myopathy 67
38 CRB037 Cerebral Palsy 66
39 P CRB048 Cerebral Cavernous Malformations 66
40 c HRD002 Hereditary Angioedema 66
41 P GLC113 Galactosemia I 66
42 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 66
43 P DYS154 Dystonia 66
44 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 65
45 P CRG003 Crigler-Najjar Syndrome, Type I 65
46 c DMN023 Diamond-Blackfan Anemia 1 64
47 BLS001 Blau Syndrome 64
48 P MTR014 Motor Neuron Disease 64
49 P EHL001 Ehlers-Danlos Syndrome 64
50 MGL001 Megaloblastic Anemia 64
51 MYL009 Myelodysplastic Syndrome 64
52 LYM017 Lyme Disease 64
53 BP1002 Bap1 Tumor Predisposition Syndrome 63
54 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 63
55 BTN003 Biotinidase Deficiency 63
56 INC021 Incontinentia Pigmenti 63
57 P OST001 Osteopetrosis 63
58 P ACR001 Aicardi-Goutieres Syndrome 63
59 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
60 CRN239 Carnitine Deficiency, Systemic Primary 63
61 P HYP069 Hyperparathyroidism 63
62 CHG001 Chagas Disease 63
63 P SPN046 Spinal Muscular Atrophy 62
64 AND019 Andersen Cardiodysrhythmic Periodic Paralysis 62
65 P TRC072 Treacher Collins Syndrome 1 62
66 PLG002 Plague 62
67 c PSR021 Psoriasis 14, Pustular 62
68 LCR014 Lacrimoauriculodentodigital Syndrome 61
69 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
70 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61
71 P BCK002 Beckwith-Wiedemann Syndrome 61
72 P NTR004 Neutropenia 61
73 DRR014 Darier-White Disease 61
74 KLP010 Klippel-Trenaunay-Weber Syndrome 61
75 c LYN005 Lynch Syndrome 1 61
76 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 61
77 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
78 MWT001 Mowat-Wilson Syndrome 61
79 P PRD008 Periodontitis 61
80 HNC001 Henoch-Schoenlein Purpura 61
81 P DRM010 Dermatomyositis 61
82 DNH001 Donohue Syndrome 61
83 ADN001 Adenosine Deaminase Deficiency 61
84 P LPS004 Lupus Erythematosus 61
85 P THR005 Thrombotic Thrombocytopenic Purpura 60
86 P HYP730 Hypogonadotropic Hypogonadism 60
87 DPM001 Dopamine Beta-Hydroxylase Deficiency 60
88 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
89 P CTR002 Cataract 60
90 LND001 Landau-Kleffner Syndrome 60
91 P HMN010 Hemangioma 60
92 CYC010 Cyclic Neutropenia 60
93 P CHL002 Childhood Absence Epilepsy 60
94 P SYP003 Syphilis 60
95 P EPS003 Episodic Ataxia 60
96 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
97 CHL067 Cholecystitis 60
98 ESP020 Esophageal Atresia 59
99 STT001 Status Epilepticus 59
100 c CLR131 Ciliary Dyskinesia, Primary, 1 59
101 DYS164 Dyskeratosis Congenita, X-Linked 59
102 c LSS005 Lissencephaly 1 59
103 P LKD001 Leukodystrophy 59
104 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
105 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 59
106 AMY027 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 59
107 CHR072 Chordoma 59
108 GLC012 Galactosialidosis 59
109 c ANG070 Angioedema, Hereditary, 1 59
110 P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
111 SDD001 Sudden Infant Death Syndrome 59
112 c EPS042 Episodic Ataxia, Type 1 58
113 DYS192 Dystonia, Dopa-Responsive 58
114 P STC001 Stickler Syndrome 58
115 P PLY041 Polymyositis 58
116 SCH014 Schistosomiasis 58
117 c SVR003 Severe Congenital Neutropenia 58
118 P INT070 Intestinal Obstruction 58
119 P VNT002 Ventricular Septal Defect 58
120 CCC001 Coccidioidomycosis 58
121 c GCH017 Gaucher Disease, Type Iii 58
122 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 58
123 CHK001 Chikungunya 58
124 c STC015 Stickler Syndrome, Type I 57
125 HYL004 Hyaline Fibromatosis Syndrome 57
126 ALL001 Allan-Herndon-Dudley Syndrome 57
127 P BRT004 Bartter Disease 57
128 ANT024 Anthrax Disease 57
129 P ALT001 Alternating Hemiplegia of Childhood 57
130 CRB150 Cerebral Creatine Deficiency Syndrome 2 57
131 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
132 c PRM012 Primary Polycythemia 57
133 PRL032 Perlman Syndrome 57
134 P CRP023 Carpenter Syndrome 1 57
135 PRN038 Prune Belly Syndrome 57
136 DNN002 Donnai-Barrow Syndrome 57
137 P ACT117 Acute Myelomonocytic Leukemia 57
138 P ATR001 Atrioventricular Septal Defect 56
139 NRN004 Neuroendocrine Tumor 56
140 P SCL018 Scoliosis 56
141 TXC002 Toxic Encephalopathy 56
142 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
143 P TMT001 Timothy Syndrome 56
144 c HMC009 Hemochromatosis Type 2 56
145 HDN003 Head and Neck Cancer 56
146 c ALZ056 Alzheimer Disease 3 56
147 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 56
148 c CHL119 Cholangitis, Primary Sclerosing 56
149 c INT072 Intestinal Pseudo-Obstruction 56
150 c OST163 Osteopetrosis, Autosomal Recessive 3 56
151 P ALP008 Alopecia 56
152 CHR105 Choreoacanthocytosis 56
153 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
154 TRC023 Trichinosis 55
155 c GLC111 Galactosemia Ii 55
156 HDR002 Hidradenitis Suppurativa 55
157 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 55
158 P FRN036 Frontonasal Dysplasia 1 55
159 P ANG015 Angioedema 55
160 MLL018 Miller-Dieker Lissencephaly Syndrome 55
161 c KLF004 Kleefstra Syndrome 1 54
162 ERD001 Erdheim-Chester Disease 54
163 RSP023 Rasopathy 54
164 OHD004 Ohdo Syndrome 54
165 NCT003 N-Acetylglutamate Synthase Deficiency 54
166 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 54
167 OPT082 Opitz Gbbb Syndrome 54
168 ENC055 Encephalopathy, Ethylmalonic 54
169 GLL028 Gillespie Syndrome 54
170 P DDN001 Duodenal Ulcer 54
171 P ICH004 Ichthyosis 54
172 OCL008 Oculopharyngeal Muscular Dystrophy 54
173 SYN007 Synovitis 54
174 P FML012 Familial Partial Lipodystrophy 54
175 MTC020 Mitochondrial Complex Ii Deficiency 53
176 P CRB154 Cerebrocostomandibular Syndrome 53
177 PRS127 Pearson Marrow-Pancreas Syndrome 53
178 P PRR016 Pierre Robin Syndrome 53
179 c ART119 Arthrogryposis, Distal, Type 5 53
180 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 53
181 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
182 TCL025 T-Cell Immunodeficiency with Thymic Aplasia 52
183 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
184 ADL104 Adult T-Cell Leukemia/lymphoma 52
185 P ANN002 Anencephaly 52
186 c PRG011 Progressive Myoclonus Epilepsy 52
187 P HMP007 Hemophilia 52
188 MYC087 Mycoplasma Pneumoniae Pneumonia 52
189 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
190 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 52
191 STS002 Situs Inversus 52
192 c MYL058 Myeloproliferative Syndrome, Transient 51
193 P LCT001 Lactic Acidosis 51
194 TRP002 Tropical Spastic Paraparesis 51
195 P JVN008 Juvenile Glaucoma 51
196 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
197 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
198 c PRD040 Periodontitis, Chronic 51
199 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 51
200 P ALP061 Alopecia, Androgenetic, 1 51
201 MLT134 Multiple Pterygium Syndrome, Lethal Type 51
202 P MTC235 Mitochondrial Disease 51
203 c CWD008 Cowden Syndrome 6 50
204 MTH077 Methylmalonic Aciduria, Cbla Type 50
205 BNB002 Bainbridge-Ropers Syndrome 50
206 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50
207 P JVN007 Juvenile Absence Epilepsy 50
208 P VSC065 Visceral Myopathy 1 50
209 c PSD047 Pseudo-Turner Syndrome 50
210 WDM004 Wiedemann-Steiner Syndrome 50
211 P ANX007 Anauxetic Dysplasia 1 50
212 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 50
213 ENC010 Encephalocraniocutaneous Lipomatosis 50
214 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 50
215 SHR098 Short-Rib Thoracic Dysplasia 12 50
216 c SCN007 Secondary Hyperparathyroidism 50
217 c INV001 Invasive Aspergillosis 49
218 MHR001 Mohr-Tranebjaerg Syndrome 49
219 P KLF001 Kleefstra Syndrome 49
220 c 46X049 46,xy Sex Reversal 2 49
221 ACR043 Acromicric Dysplasia 49
222 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
223 c LYN009 Lynch Syndrome 5 49
224 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 49
225 c EPS017 Episodic Ataxia, Type 6 49
226 MTH078 Methylmalonic Aciduria, Cblb Type 49
227 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 49
228 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
229 c HYP575 Hypotrichosis 7 49
230 PRC003 Proctitis 49
231 P PRR002 Pure Red-Cell Aplasia 49
232 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 49
233 EPD015 Epidemic Typhus 49
234 P ORF001 Orofaciodigital Syndrome 49
235 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 48
236 c ALZ049 Alzheimer Disease 2 48
237 NCR004 Nocardiosis 48
238 P CNG003 Congenital Dyserythropoietic Anemia 48
239 GLC106 Glucocorticoid Resistance, Generalized 48
240 c ALZ054 Alzheimer Disease 4 48
241 CHR222 Chromosome 1p36 Deletion Syndrome 48
242 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
243 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
244 c VNM003 Van Maldergem Syndrome 1 48
245 SPR010 Sporotrichosis 48
246 IMM252 Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation 48
247 c ALZ045 Alzheimer Disease 9 48
248 PLM019 Pleomorphic Liposarcoma 48
249 c GRS013 Griscelli Syndrome, Type 1 48
250 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
251 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 48
252 c VNW008 Von Willebrand Disease, Type 3 47
253 P KLP003 Klippel-Feil Syndrome 47
254 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
255 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
256 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
257 c EPS034 Episodic Ataxia, Type 5 47
258 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47
259 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
260 BRN062 Burn-Mckeown Syndrome 47
261 CHR659 Chromosome 22q11.2 Duplication Syndrome 47
262 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 47
263 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
264 c 3MT015 3-Methylglutaconic Aciduria, Type I 47
265 c LNG050 Long Qt Syndrome 5 47
266 c AMY069 Amyotrophic Lateral Sclerosis 21 47
267 ALB014 Alobar Holoprosencephaly 47
268 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
269 c CTR098 Cataract 1, Multiple Types 47
270 c ACR116 Aicardi-Goutieres Syndrome 1 47
271 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
272 LCK001 Locked-in Syndrome 47
273 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
274 CHR543 Chromosome 2q37 Deletion Syndrome 47
275 c ANG071 Angioedema, Hereditary, 3 47
276 HST006 Histidinemia 47
277 P C3G002 C3 Glomerulopathy 46
278 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
279 c GCH013 Gaucher Disease, Type Iiic 46
280 P SCL009 Sclerosing Cholangitis 46
281 P PSD003 Pseudohypoaldosteronism 46
282 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 46
283 ACT113 Acute Myeloblastic Leukemia with Maturation 46
284 P GLP001 Geleophysic Dysplasia 46
285 c HYP243 Hyperparathyroidism 1 46
286 c MYP081 Myopathy, Myofibrillar, 6 46
287 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
288 HMS001 Hemosiderosis 46
289 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 46
290 c XFP001 Xfe Progeroid Syndrome 46
291 NLS001 Nelson Syndrome 46
292 P GLL032 Galloway-Mowat Syndrome 46
293 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
294 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 46
295 c ACT076 Acute Myocarditis 46
296 P PLL002 Pellagra 46
297 P SPN202 Spinocerebellar Ataxia, X-Linked 1 46
298 MLL002 Miller Fisher Syndrome 45
299 c LNG051 Long Qt Syndrome 6 45
300 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
301 GLS004 Glossopharyngeal Neuralgia 45
302 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
303 WHP001 Whipple Disease 45
304 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
305 P MRC003 Mercury Poisoning 45
306 c DMN021 Diamond-Blackfan Anemia 6 45
307 DDF001 Dedifferentiated Liposarcoma 45
308 GNT031 Genitopatellar Syndrome 45
309 c DMN029 Diamond-Blackfan Anemia 11 45
310 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
311 c ALZ062 Alzheimer Disease 19 45
312 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 45
313 PST027 Postencephalitic Parkinson Disease 45
314 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 45
315 c JVN003 Juvenile Xanthogranuloma 45
316 c HRD220 Hereditary Spastic Paraplegia 30 45
317 WRN004 Wrinkly Skin Syndrome 44
318 SPS004 Spastic Quadriplegia 44
319 P HRN001 Horner's Syndrome 44
320 47X004 47 Xxx Syndrome 44
321 c CTR182 Cataract 23, Multiple Types 44
322 P HRT030 Hartsfield Syndrome 44
323 WLL012 Williams-Beuren Region Duplication Syndrome 44
324 c SCK009 Seckel Syndrome 1 44
325 P BLP003 Blepharospasm 44
326 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
327 P PST059 Pustular Psoriasis 44
328 P MYC026 Myoclonus Epilepsy 44
329 c CRB094 Cerebral Cavernous Malformations 3 44
330 VNC001 Von Economo's Disease 44
331 c SYS043 Systemic Lupus Erythematosus 1 44
332 WLD008 Wild-Type Amyloidosis 43
333 P CMM008 Communicating Hydrocephalus 43
334 BTY001 Butyrylcholinesterase Deficiency 43
335 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
336 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
337 c GLP003 Geleophysic Dysplasia 1 43
338 PLM021 Pilomyxoid Astrocytoma 43
339 DMN007 D-Minus Hemolytic Uremic Syndrome 43
340 c WRB004 Warburg Micro Syndrome 3 43
341 RTN072 Retinohepatoendocrinologic Syndrome 43
342 c LYN006 Lynch Syndrome 2 43
343 c CTR130 Cataract 9, Multiple Types 43
344 c DYS119 Dystonia 9 43
345 CSL001 Causalgia 43
346 ATR013 Atrichia with Papular Lesions 43
347 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 43
348 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 43
349 c LYN008 Lynch Syndrome 4 43
350 c CLR068 Ciliary Dyskinesia, Primary, 5 43
351 c SPN247 Spinocerebellar Ataxia Type 19/22 43
352 SPN119 Spondylarthropathy 43
353 CHR211 Chromosome 18p Deletion Syndrome 43
354 TRN021 Transaldolase Deficiency 43
355 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
356 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
357 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
358 c CRB191 Cerebral Cavernous Malformations 2 42
359 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
360 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 42
361 CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 42
362 SPT005 Spotted Fever 42
363 c AML057 Amelogenesis Imperfecta, Type Iiia 42
364 TRS002 Tarsal-Carpal Coalition Syndrome 42
365 c CNG379 Congenital Disorder of Glycosylation, Type It 42
366 GRN017 Granulocytopenia 42
367 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
368 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
369 c ALP104 Alport Syndrome 3, Autosomal Dominant 42
370 c DMN006 Diamond-Blackfan Anemia 3 42
371 MNG006 Monogenic Diabetes 42
372 HMP009 Haemophilus Influenzae 42
373 P OVR082 Overgrowth Syndrome 42
374 c CNG033 Congenital Syphilis 42
375 c ATM022 Autoimmune Myocarditis 42
376 PLG004 Plagiocephaly 42
377 P PRK105 Parkinsonism-Dystonia 1, Infantile-Onset 42
378 PLY100 Polyploidy 42
379 PTT037 Pituitary Tumors 42
380 c CLR134 Ciliary Dyskinesia, Primary, 3 42
381 CMP035 Complete Atrioventricular Canal 42
382 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
383 P HRD018 Hair Disease 42
384 CHR502 Chromosome 17q12 Duplication Syndrome 41
385 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
386 HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 41
387 GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 41
388 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 41
389 c NRC010 Narcolepsy 2 41
390 OCL015 Oculomotor Apraxia 41
391 c SCK010 Seckel Syndrome 4 41
392 P LMB024 Limbic Encephalitis 41
393 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
394 c GLP004 Geleophysic Dysplasia 2 41
395 P RDL002 Radioulnar Synostosis 41
396 BBN001 Bubonic Plague 41
397 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
398 c ART157 Arthrogryposis, Distal, Type 2b3 41
399 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 41
400 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 41
401 c PRS136 Prostate Cancer, Hereditary, 6 41
402 INT450 Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type 41
403 c CLR094 Ciliary Dyskinesia, Primary, 28 41
404 VND005 Van Den Ende-Gupta Syndrome 41
405 ARG001 Argentine Hemorrhagic Fever 41
406 c PRM032 Primary Congenital Glaucoma 41
407 STR007 Stress Polycythemia 41
408 KDN007 Kidney Clear Cell Sarcoma 41
409 c PRS130 Prostate Cancer, Hereditary, 8 41
410 ACR122 Aica-Ribosuria Due to Atic Deficiency 41
411 c OST137 Osteopetrosis, Autosomal Recessive 4 41
412 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
413 P HYP087 Hypotrichosis 40
414 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 40
415 c SCK015 Seckel Syndrome 2 40
416 c CLR135 Ciliary Dyskinesia, Primary, 7 40
417 c CLR114 Ciliary Dyskinesia, Primary, 30 40
418 LTH002 Lathosterolosis 40
419 LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 40
420 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
421 PHH001 Phaeohyphomycosis 40
422 c CTR118 Cataract 14, Multiple Types 40
423 CHR286 Chronic Neutrophilic Leukemia 40
424 c HYP525 Hypotrichosis 2 40
425 P OGC005 Oguchi Disease 40
426 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 40
427 c ACQ012 Acquired Angioedema 40
428 NNS097 Non-Specific Early-Onset Epileptic Encephalopathy 40
429 P CRB045 Cerebellar Hypoplasia 40
430 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
431 HYP737 Hyperhidrosis, Gustatory 40
432 TLP001 Talipes Equinovarus 40
433 P MYG005 Myoglobinuria 40
434 c DMN017 Diamond-Blackfan Anemia 10 40
435 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 40
436 HYP267 Hyperchlorhidrosis, Isolated 40
437 P CNG024 Congenital Nystagmus 40
438 c BLP048 Blepharospasm, Benign Essential 40
439 c HYP581 Hypotrichosis 6 40
440 c LYN007 Lynch Syndrome 8 40
441 P CLS010 Cluster Headache 39
442 c KLF005 Kleefstra Syndrome 2 39
443 EPD117 Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous 39
444 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39
445 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 39
446 c WRB005 Warburg Micro Syndrome 4 39
447 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 39
448 c CTR132 Cataract 3, Multiple Types 39
449 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
450 SPS019 Spastic Paraparesis 39
451 c CTR115 Cataract 16, Multiple Types 39
452 RJS001 Ruijs-Aalfs Syndrome 39
453 SYN086 Synostoses, Tarsal, Carpal, and Digital 39
454 c SYS061 Systemic Lupus Erythematosus 16 39
455 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
456 ATY022 Atypical Coarctation of Aorta 39
457 THR017 Thoracoabdominal Syndrome 39
458 c SVR110 Severe Congenital Neutropenia 4 39
459 c HYP559 Hypotrichosis 8 39
460 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 39
461 P SPL061 Split Hand-Foot Malformation 39
462 GLC024 Glucose Transporter Type 1 Deficiency Syndrome 39
463 c CTR170 Cataract 30, Multiple Types 39
464 OTF004 Otofaciocervical Syndrome 1 39
465 c SPN419 Spinocerebellar Ataxia 45 39
466 c CLR066 Ciliary Dyskinesia, Primary, 2 38
467 OCH001 Ochronosis 38
468 LPD026 Lipedema 38
469 ESN015 Eosinophilic Fasciitis 38
470 SFT003 Soft Tissue Sarcoma 38
471 ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 38
472 PRK066 Parkinsonism with Spasticity, X-Linked 38
473 c CLR140 Ciliary Dyskinesia, Primary, 40 38
474 P OMD003 Omodysplasia 38
475 c LTH008 Lethal Congenital Contracture Syndrome 2 38
476 ORN001 Ornithosis 38
477 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
478 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 38
479 HMC014 Homocysteinemia 38
480 WBR001 Weber Syndrome 38
481 c GLC083 Glaucoma 3, Primary Infantile, B 38
482 c BRT038 Baraitser-Winter Syndrome 1 38
483 c DMN020 Diamond-Blackfan Anemia 8 38
484 c ACR091 Aicardi-Goutieres Syndrome 4 38
485 c STC013 Stickler Syndrome, Type Ii 38
486 ZTT001 Zttk Syndrome 38
487 INT448 Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type 38
488 c CLR091 Ciliary Dyskinesia, Primary, 14 38
489 CHL109 Childhood Apraxia of Speech 38
490 c PRS097 Prostate Cancer, Hereditary, 1 38
491 c DYS172 Dystonia 27 38
492 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 38
493 P NNP021 Nanophthalmos 38
494 P BRT040 Baraitser-Winter Syndrome 38
495 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 38
496 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
497 c CWD004 Cowden Syndrome 5 38
498 c ACR088 Aicardi-Goutieres Syndrome 3 38
499 c DMN024 Diamond-Blackfan Anemia 7 38
500 c CWD005 Cowden Syndrome 4 37
501 c CTR145 Cataract 44 37
502 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 37
503 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
504 c DYS151 Dystonia 25 37
505 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37
506 c VNM002 Van Maldergem Syndrome 2 37
507 P YWS001 Yaws 37
508 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 37
509 c ALZ058 Alzheimer Disease 11 37
510 c ART156 Arthrogryposis, Distal, Type 2b2 37
511 P ATS366 Autism X-Linked 2 37
512 SPN221 Spina Bifida Occulta 37
513 RTC012 Reticuloendotheliosis, X-Linked 37
514 NCR001 Necrotizing Ulcerative Gingivitis 37
515 P AVS003 Avascular Necrosis 37
516 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 37
517 c GLP007 Geleophysic Dysplasia 3 37
518 GLL048 Glial Tumor 37
519 c SVR106 Severe Congenital Neutropenia 5 37
520 c ACR092 Aicardi-Goutieres Syndrome 5 37
521 P HMN032 Human Herpesvirus 8 37
522 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 37
523 c SPN418 Spinocerebellar Ataxia 44 37
524 P OSS001 Ossifying Fibroma 37
525 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
526 c SCN006 Secondary Syphilis 37
527 c EPS033 Episodic Ataxia, Type 8 37
528 c SCK011 Seckel Syndrome 5 37
529 CRY019 Cryohydrocytosis 37
530 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 37
531 c CLR105 Ciliary Dyskinesia, Primary, 20 37
532 SPC031 Specific Learning Disability 37
533 SPT016 Septopreoptic Holoprosencephaly 37
534 c FRN033 Frontonasal Dysplasia 2 37
535 c ACR081 Aicardi-Goutieres Syndrome 6 36
536 c TRC071 Treacher Collins Syndrome 3 36
537 SPN438 Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 36
538 c LTH026 Lethal Congenital Contracture Syndrome 4 36
539 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 36
540 BRC004 Brachydactyly-Syndactyly Syndrome 36
541 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
542 P NRL038 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 36
543 P LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 36
544 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
545 c DYS146 Dystonia 24 36
546 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
547 c HYP507 Hypotrichosis 1 36
548 c PRG141 Progressive Myoclonus Epilepsy 10 36
549 c 3MT007 3-Methylglutaconic Aciduria 36
550 CLP005 Ciliopathy 36
551 c DVL097 Developmental and Epileptic Encephalopathy 73 36
552 c ACR090 Aicardi-Goutieres Syndrome 2 36
553 CHR387 Chromosome Xp21 Deletion Syndrome 36
554 P DYS021 Dysautonomia 36
555 c ALG016 Alagille Syndrome 2 36
556 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
557 P CNG048 Congenital Hepatic Fibrosis 36
558 P CXV002 Coxa Vara 36
559 OTP003 Oto-Palatal-Digital Syndrome 36
560 PRM206 Premature Aging Syndrome, Penttinen Type 36
561 c CTR129 Cataract 31, Multiple Types 36
562 c EPS037 Episodic Ataxia, Type 4 36
563 ISL109 Isolated Cleft Lip 36
564 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 36
565 INT020 Intravenous Leiomyomatosis 35
566 c CTR181 Cataract 18 35
567 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
568 c 3MT025 3-Methylglutaconic Aciduria, Type Viib 35
569 CMB016 Combined Oxidative Phosphorylation Deficiency 5 35
570 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
571 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 35
572 c OGC002 Oguchi Disease 2 35
573 c INT414 Intellectual Developmental Disorder, X-Linked 29 35
574 c WLL040 Weill-Marchesani Syndrome 4 35
575 c CLR042 Ciliary Dyskinesia, Primary, 6 35
576 c ALZ057 Alzheimer Disease 10 35
577 48X002 48,xxxy Syndrome 35
578 c CNG188 Congenital Disorder of Glycosylation, Type if 35
579 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
580 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 35
581 MYP035 Myopathy, Distal, with Anterior Tibial Onset 35
582 c HRD229 Hereditary Spastic Paraplegia 56 35
583 c ART168 Arthrogryposis, Distal, Type 1c 35
584 c SPS092 Spastic Paraplegia 11 35
585 c SBC035 Subacute Cutaneous Lupus Erythematosus 35
586 c SPN299 Spinocerebellar Ataxia 20 35
587 c OGC001 Oguchi Disease 1 35
588 P BNG002 Benign Meningioma 35
589 ASC009 Ascites, Chylous 35
590 c ALZ063 Alzheimer's Disease 1 35
591 CRT091 Creatine Deficiency Disorders 35
592 c EPL133 Epilepsy, Juvenile Absence 1 35
593 c INT446 Intellectual Developmental Disorder, X-Linked 1 35
594 SBP004 Subependymoma 35
595 c EPL207 Epilepsy, Progressive Myoclonic, 1b 34
596 DLT018 Dilution, Pigmentary 34
597 c OST106 Osteopetrosis, Autosomal Recessive 8 34
598 PDT025 Pediatric Multiple Sclerosis 34
599 ODN025 Odontochondrodysplasia 1 34
600 c CLR056 Ciliary Dyskinesia, Primary, 10 34
601 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 34
602 SZR028 Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 34
603 c CTR122 Cataract 5, Multiple Types 34
604 c INT403 Intellectual Developmental Disorder, X-Linked 21 34
605 NRC005 Neuroacanthocytosis 34
606 CTR014 Cataract Microcornea Syndrome 34
607 c CTR183 Cataract 38 34
608 CMP083 Complete Plasminogen Activator Inhibitor 1 Deficiency 34
609 CHR178 Chromosomal Triplication 34
610 c CLR101 Ciliary Dyskinesia, Primary, 25 34
611 c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 34
612 c ATS076 Autosomal Recessive Stickler Syndrome 34
613 c CLR095 Ciliary Dyskinesia, Primary, 19 34
614 c ADL027 Adult Dermatomyositis 34
615 c CLR098 Ciliary Dyskinesia, Primary, 27 34
616 ASB003 Asbestos Intoxication 34
617 c HYP577 Hypotrichosis 13 34
618 c CRP022 Carpenter Syndrome 2 34
619 c INF122 Infantile Krabbe Disease 34
620 P ACR072 Acrorenal Syndrome 34
621 PRS120 Persistent Idiopathic Facial Pain 34
622 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
623 GMS001 Gemistocytic Astrocytoma 34
624 P SPS012 Spastic Paraplegia 3a 34
625 c ANX008 Anauxetic Dysplasia 2 34
626 PSR016 Psoriatic Juvenile Idiopathic Arthritis 34
627 CYT002 Cytokine Deficiency 34
628 c ACR084 Aicardi-Goutieres Syndrome 7 33
629 c DYS145 Dystonia 23 33
630 LSC003 Luscan-Lumish Syndrome 33
631 CNT057 Central Centrifugal Cicatricial Alopecia 33
632 c HRD226 Hereditary Spastic Paraplegia 49 33
633 BRN055 Bronchogenic Cyst 33
634 c CLR090 Ciliary Dyskinesia, Primary, 22 33
635 c DMN018 Diamond-Blackfan Anemia 5 33
636 PYR025 Pyruvate Dehydrogenase E2 Deficiency 33
637 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 33
638 c PRS114 Prostate Cancer, Hereditary, 2 33
639 c ACQ047 Acquired Methemoglobinemia 33
640 NRD148 Neurodevelopmental Disorder with Epilepsy and Hemochromatosis 33
641 c VNT028 Ventricular Septal Defect 1 33
642 P MCR364 Macrodactyly 33
643 PRG023 Progeroid Short Stature with Pigmented Nevi 33
644 PSD030 Pseudodiastrophic Dysplasia 33
645 PLN005 Palindromic Rheumatism 33
646 CHL078 Childhood-Onset Schizophrenia 33
647 OXG001 Oxoglutarate Dehydrogenase Deficiency 33
648 JVN033 Juvenile Nasopharyngeal Angiofibroma 33
649 c EPS015 Episodic Ataxia, Type 7 33
650 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
651 CLS047 Classic Progressive Supranuclear Palsy Syndrome 33
652 YHV001 You-Hoover-Fong Syndrome 33
653 HGH041 High-Grade Astrocytoma 33
654 FBR064 Febrile Infection-Related Epilepsy Syndrome 33
655 c HYP576 Hypotrichosis 4 33
656 c CTR102 Cataract 2, Multiple Types 33
657 CMB071 Combined Oxidative Phosphorylation Deficiency 27 33
658 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 33
659 MCP039 Mucoepithelial Dysplasia, Hereditary 33
660 SCH055 Schilbach-Rott Syndrome 32
661 HMP028 Hemophagocytic Syndrome Associated with an Infection 32
662 c CTR131 Cataract 17, Multiple Types 32
663 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32
664 OHD003 Ohdo Syndrome, X-Linked 32
665 c SPS025 Spastic Paraplegia 15 32
666 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 32
667 c TRC073 Treacher Collins Syndrome 2 32
668 c INT430 Intellectual Developmental Disorder, X-Linked 98 32
669 c CLR125 Ciliary Dyskinesia, Primary, 33 32
670 ODN006 Odontoma 32
671 RFM002 Roifman-Chitayat Syndrome 32
672 c INT342 Intellectual Developmental Disorder, X-Linked 108 32
673 P FXG001 Foxg1 Syndrome 32
674 LMB014 Limb-Body Wall Complex 32
675 c EPS014 Episodic Ataxia, Type 3 32
676 ADR023 Adrenomyodystrophy 32
677 P TRC034 Torch Syndrome 32
678 P NNT042 Neonatal Lupus Erythematosus 32
679 CCN009 Cocaine Intoxication 32
680 TTR012 Tetrasomy 9p 32
681 END014 Endemic Typhus 32
682 c DMN005 Diamond-Blackfan Anemia 2 32
683 c CTR187 Cataract 48 32
684 c GLL040 Galloway-Mowat Syndrome 3 32
685 ALP048 Alopecia Totalis 32
686 QLT008 Qualitative or Quantitative Defects of Dysferlin 32
687 PCT001 Pectus Carinatum 32
688 c BRT039 Baraitser-Winter Syndrome 2 32
689 c PRM022 Primary Syphilis 32
690 c PRP091 Porphyria Cutanea Tarda, Type I 32
691 c CTR111 Cataract 36 32
692 c CTR185 Cataract 30 32
693 c DMN049 Diamond-Blackfan Anemia 20 32
694 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 32
695 c INF185 Infantile Epilepsy Syndrome 32
696 PMP009 Pemphigus Erythematosus 31
697 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 31
698 c EPL200 Epilepsy, Childhood Absence 1 31
699 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 31
700 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 31
701 c SVR104 Severe Congenital Neutropenia 7 31
702 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 31
703 MTR086 Motor Stereotypies 31
704 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
705 c SVR040 Severe Congenital Nemaline Myopathy 31
706 c SCK033 Seckel Syndrome 8 31
707 KLB004 Klebsiella Infection 31
708 c CLR069 Ciliary Dyskinesia, Primary, 8 31
709 P VTR008 Vitreoretinal Degeneration 31
710 c CTR124 Cataract 10, Multiple Types 31
711 CHR247 Chromosome 4p Deletion 31
712 c CNG514 Congenital Radioulnar Synostosis 31
713 c BNM010 Bone Marrow Failure Syndrome 1 31
714 ACT114 Acute Myeloblastic Leukemia Without Maturation 31
715 c LTC001 Late Congenital Syphilis 31
716 VRS002 Virus-Associated Trichodysplasia Spinulosa 31
717 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 31
718 RFS003 Refsum Disease, Infantile Form 31
719 c MYG007 Myoglobinuria, Recurrent 31
720 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 31
721 c CLR116 Ciliary Dyskinesia, Primary, 29 31
722 TTR014 Tetrasomy 18p 31
723 CRN266 Craniofacial Dyssynostosis with Short Stature 31
724 GLM044 Glomerular Disease 31
725 CHR487 Chromosome 8q21.11 Deletion Syndrome 31
726 IMM237 Immunodeficiency 78 with Autoimmunity and Developmental Delay 31
727 c CLR138 Ciliary Dyskinesia, Primary, 38 31
728 ETH012 Ethylene Glycol Poisoning 31
729 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 30
730 c ACQ042 Acquired Hemophilia a 30
731 c ALZ050 Alzheimer Disease 5 30
732 c CLR143 Ciliary Dyskinesia, Primary, 43 30
733 LCT003 Lactocele 30
734 MNN021 Meningococcemia 30
735 P HYP658 Hypoplastic Amelogenesis Imperfecta 30
736 CHR265 Chromosome 8p Duplication 30
737 c ART060 Arthrogryposis, Distal, Type 1b 30
738 c ANN020 Anencephaly 1 30
739 RTB001 Rat Bite Fever 30
740 P CRN249 Cornea Plana 30
741 c INT419 Intellectual Developmental Disorder, X-Linked 30 30
742 MYC017 Mycobacterium Kansasii 30
743 DRM043 Dermochondrocorneal Dystrophy 30
744 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 30
745 c JVN034 Juvenile Polyposis of Infancy 30
746 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
747 KYS001 Kyasanur Forest Disease 30
748 c SPS142 Spastic Ataxia 2, Autosomal Recessive 30
749 P HRD214 Hereditary Periodic Fever Syndrome 30
750 c PRS031 Prostate Carcinoma in Situ 30
751 SNG003 Single Ventricular Heart 30
752 c VCT004 Vacterl Association with Hydrocephalus 30
753 CND006 Candida Glabrata 30
754 c SCK032 Seckel Syndrome 6 30
755 XNT002 Xanthogranulomatous Cholecystitis 30
756 MYC019 Mycobacterium Marinum 30
757 RFR009 Refractory Cytopenia with Multilineage Dysplasia 30
758 TTR013 Tetrasomy X 30
759 FXD003 Fixed Drug Eruption 30
760 RNL126 Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss 30
761 c INT425 Intellectual Developmental Disorder, X-Linked 19 30
762 c ALT007 Alternating Hemiplegia of Childhood 2 30
763 HMN002 Human Granulocytic Anaplasmosis 30
764 c GLC115 Galactosemia Iv 30
765 PHC006 Phacomatosis Pigmentovascularis 30
766 GRN004 Granulomatous Amebic Encephalitis 30
767 SPS016 Spasmodic Dysphonia 29
768 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 29
769 c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 29
770 c FRN032 Frontonasal Dysplasia 3 29
771 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
772 c BRC108 Brachydactyly, Type A3 29
773 c CLR067 Ciliary Dyskinesia, Primary, 4 29
774 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 29
775 RCM003 Recombinant Chromosome 8 Syndrome 29
776 c ALZ012 Alzheimer Disease 12 29
777 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 29
778 c HRD186 Hereditary Spastic Paraplegia 51 29
779 c SPN203 Spinocerebellar Ataxia, X-Linked 5 29
780 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
781 SCD003 Scedosporiosis 29
782 WLD006 Wild Type Abeta2m Amyloidosis 29
783 c CLR106 Ciliary Dyskinesia, Primary, 26 29
784 c RNG022 Ring Chromosome 6 29
785 c CLR104 Ciliary Dyskinesia, Primary, 15 29
786 SHS001 Shashi-Pena Syndrome 29
787 CHR483 Chromosome 3q13.31 Deletion Syndrome 29
788 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 29
789 P TRS029 Trisomy 1q 29
790 c CLR059 Ciliary Dyskinesia, Primary, 13 29
791 c RNG007 Ring Chromosome 12 29
792 c CTR141 Cataract 21, Multiple Types 29
793 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
794 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
795 QNQ002 Quinquaud Folliculitis Decalvans 29
796 c CWD009 Cowden Syndrome 7 29
797 PRX035 Paroxysmal Dyskinesia 29
798 MD2001 Med23 29
799 HVR001 Haverhill Fever 29
800 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 29
801 c ATM068 Autoimmune Hypoparathyroidism 29
802 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 29
803 c DMN022 Diamond-Blackfan Anemia 9 29
804 STR033 Storm Syndrome 29
805 YNH001 Yuan-Harel-Lupski Syndrome 29
806 c SPS091 Spastic Paraplegia 4 29
807 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
808 LCH014 Lichen Amyloidosis 29
809 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 29
810 CHR182 Chromosome 10p Duplication 29
811 P INH011 Inherited Bone Marrow Failure Syndromes 28
812 c ALZ059 Alzheimer Disease 13 28
813 MTH047 Methanol Poisoning 28
814 49X004 49,xyyyy Syndrome 28
815 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 28
816 LPG001 Lipogranulomatosis 28
817 ATR048 Atrial Tachyarrhythmia with Short Pr Interval 28
818 c ERL003 Early Onset Absence Epilepsy 28
819 P VCT008 Vacterl with Hydrocephalus 28
820 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 28
821 c CLR123 Ciliary Dyskinesia, Primary, 37 28
822 c ALT008 Alternating Hemiplegia of Childhood 1 28
823 c SVR109 Severe Congenital Neutropenia 8 28
824 c SPS013 Spastic Paraplegia 8 28
825 SYS006 Say Syndrome 28
826 LJH001 Lujo Hemorrhagic Fever 28
827 MRN002 Mooren's Ulcer 28
828 CYT004 Cytomegalic Inclusion Disease 28
829 c CLR136 Ciliary Dyskinesia, Primary, 9 28
830 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
831 c BNM032 Bone Marrow Failure Syndrome 4 28
832 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 28
833 c CLR097 Ciliary Dyskinesia, Primary, 23 28
834 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 28
835 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
836 c PRG140 Progressive Myoclonus Epilepsy 4 28
837 c INT434 Intellectual Developmental Disorder, X-Linked 12 28
838 DQR001 De Quervain Disease 28
839 c HYP528 Hypotrichosis 11 28
840 FTL029 Fetal Thalidomide Syndrome 28
841 c RNG005 Ring Chromosome 10 28
842 HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 28
843 c DMN019 Diamond-Blackfan Anemia 4 28
844 c ERL002 Early Congenital Syphilis 28
845 PTC005 Pituicytoma 28
846 c ATR047 Atrioventricular Septal Defect 2 28
847 LDD006 Ledderhose Disease 28
848 KLB005 Kleeblattschaedel 28
849 CHR212 Chromosome 18p Duplication 28
850 GNT162 Genetic Non-Acquired Premature Ovarian Failure 28
851 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 28
852 c NRL039 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 28
853 c NNT025 Neonatal Systemic Lupus Erythematosus 28
854 QLT002 Qualitative or Quantitative Defects of Dystrophin 28
855 GLY054 Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency 28
856 FNC050 Functioning Gonadotropic Adenoma 28
857 ICH062 Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 28
858 c INT274 Intermediate Congenital Nemaline Myopathy 27
859 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
860 CHR369 Chromosome Xq28 Duplication Syndrome 27
861 c MYC068 Myoclonic Epilepsy of Infancy 27
862 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
863 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 27
864 P VNM004 Van Maldergem Syndrome 27
865 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 27
866 c ERL004 Early Yaws 27
867 ORF053 Orofacial Clefting Syndrome 27
868 c CLR054 Ciliary Dyskinesia, Primary, 12 27
869 c ACQ016 Acquired Pure Red Cell Aplasia 27
870 P PST016 Posterior Polar Cataract 27
871 CNG065 Congenital Contractures 27
872 c BNM013 Bone Marrow Failure Syndrome 3 27
873 PLS031 Plastic Bronchitis 27
874 BLV001 Bolivian Hemorrhagic Fever 27
875 c C3G003 C3 Glomerulopathy 3 27
876 RDL022 Radial Hemimelia 27
877 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 27
878 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
879 c CTR180 Cataract 22, Multiple Types 27
880 IQS001 Iqsec2 27
881 c EPS048 Episodic Ataxia, Type 9 27
882 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 27
883 MYC001 Myoclonic Cerebellar Dyssynergia 27
884 P SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 27
885 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 27
886 c CLR092 Ciliary Dyskinesia, Primary, 18 27
887 c MCR282 Microcephaly and Chorioretinopathy 1 27
888 MNN042 Meningioma, Radiation-Induced 27
889 CHN053 Chondromyxoid Fibroma 27
890 P RNG032 Ring Chromosome 27
891 c HYP515 Hypotrichosis 3 27
892 c HML034 Hemolytic Uremic Syndrome, Atypical 3 27
893 PRT085 Peritoneal Cystic Mesothelioma 27
894 c HYP578 Hypotrichosis 12 27
895 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 27
896 CRY010 Cryptophthalmos 27
897 c CLR102 Ciliary Dyskinesia, Primary, 17 27
898 c INT420 Intellectual Developmental Disorder, X-Linked 93 27
899 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
900 ATR055 Atrial Septal Aneurysm 27
901 c INT431 Intellectual Developmental Disorder, X-Linked 99 27
902 PRX097 Paroxysmal Dystonia 27
903 c HYP720 Hyperparathyroidism 4 27
904 c ACR124 Aicardi-Goutieres Syndrome 9 27
905 c ATS367 Autism X-Linked 3 26
906 XNT009 Xanthoma Disseminatum 26
907 LNR004 Linear Porokeratosis 26
908 c HML037 Hemolytic Uremic Syndrome, Atypical 5 26
909 SPS093 Spastic Diplegia Cerebral Palsy 26
910 CHR252 Chromosome 5p Duplication 26
911 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 26
912 c PLZ002 Pelizaeus-Merzbacher-Like Disease 26
913 NKJ001 Nakajo Syndrome 26
914 c CTR116 Cataract 15, Multiple Types 26
915 SCR024 Sacrococcygeal Teratoma 26
916 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 26
917 NRL008 Neural Crest Tumor 26
918 KRB005 Krabbe Disease, Atypical, Due to Saposin a Deficiency 26
919 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26
920 ACR107 Acrofacial Dysostosis, Palagonia Type 26
921 c FRM005 Frmd7-Related Infantile Nystagmus 26
922 c CLR053 Ciliary Dyskinesia, Primary, 11 26
923 c INT447 Intellectual Developmental Disorder, X-Linked 9 26
924 ELC001 Elective Mutism 26
925 c CLR117 Ciliary Dyskinesia, Primary, 32 26
926 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 26
927 c PRS080 Prostate Cancer, Hereditary, 7 26
928 c GLL042 Galloway-Mowat Syndrome 5 26
929 c VNT024 Ventricular Septal Defect 3 26
930 c ATR067 Atrioventricular Septal Defect 4 26
931 c FBR079 Fibromatosis, Gingival, 2 26
932 FRN014 Fournier Gangrene 26
933 ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 26
934 PTN004 Patent Ductus Venosus 26
935 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 26
936 CHR208 Chromosome 17p Deletion 26
937 c HML032 Hemolytic Uremic Syndrome, Atypical 4 26
938 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
939 c LTH029 Lethal Congenital Contracture Syndrome 9 26
940 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 26
941 c SYN088 Synpolydactyly 2 26
942 NNS134 Non-Syndromic Bicoronal Craniosynostosis 26
943 c ALZ016 Alzheimer Disease 8 26
944 CMD005 Cimdag Syndrome 26
945 NNS011 Nonseminomatous Germ Cell Tumor 26
946 c ALZ014 Alzheimer Disease 16 26
947 c CTR105 Cataract 12, Multiple Types 26
948 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
949 c RDL040 Radioulnar Synostosis, Nonsyndromic 26
950 c CTR166 Cataract 33, Multiple Types 26
951 c VSC066 Visceral Myopathy 2 26
952 P ADD006 Adducted Thumbs Syndrome 26
953 c CTR121 Cataract 25 26
954 c INT439 Intellectual Developmental Disorder, X-Linked 104 26
955 c CTR097 Cataract 34, Multiple Types 26
956 MYC014 Mycobacterium Chelonae 25
957 ACT228 Acute Radiation Syndrome 25
958 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
959 ANS017 Anosmia, Isolated Congenital 25
960 c PRG142 Progressive Myoclonus Epilepsy 3 25
961 c CLR099 Ciliary Dyskinesia, Primary, 16 25
962 c LTH032 Lethal Congenital Contracture Syndrome 7 25
963 c NNP011 Nanophthalmos 2 25
964 c FRN037 Frontal Encephalocele 25
965 CMB084 Combined Oxidative Phosphorylation Deficiency 34 25
966 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 25
967 c GLL045 Galloway-Mowat Syndrome 6 25
968 THY098 Thyroid Ectopia 25
969 c GLL046 Galloway-Mowat Syndrome 7 25
970 P PRG139 Progeroid Syndrome 25
971 c INT442 Intellectual Developmental Disorder, X-Linked 106 25
972 c CRN280 Cornea Plana 2, Autosomal Recessive 25
973 NNS133 Non-Syndromic Metopic Craniosynostosis 25
974 LYS029 Lysosomal Disease 25
975 c LTH039 Lethal Congenital Contracture Syndrome 11 25
976 c DYS212 Dystonia 30 25
977 HRP011 Herpes Zoster Ophthalmicus 25
978 c ATR071 Atrioventricular Septal Defect 5 25
979 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
980 GLC025 Galactorrhoea-Hyperprolactinaemia 25
981 HYP181 Hypertrichosis Lanuginosa, Acquired 25
982 ATR053 Atresia of Urethra 25
983 MYC015 Mycobacterium Fortuitum 25
984 c INT413 Intellectual Developmental Disorder, X-Linked 63 25
985 c ANX011 Anauxetic Dysplasia 3 25
986 c KLF002 Kleefstra Syndrome Due to a Point Mutation 25
987 8PN001 8p Inverted Duplication/deletion Syndrome 25
988 c ATS358 Autism X-Linked 6 25
989 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 25
990 c PRS071 Prostate Cancer, Hereditary, 13 25
991 c TRS025 Torsion Dystonia 2 25
992 c DMN045 Diamond-Blackfan Anemia-Like 25
993 c BNM011 Bone Marrow Failure Syndrome 2 25
994 c ALP099 Alopecia, Congenital 25
995 c SVR108 Severe Congenital Neutropenia 6 25
996 c HML036 Hemolytic Uremic Syndrome, Atypical 6 25
997 c ALZ015 Alzheimer Disease 6 25
998 CHR416 Chromosome 17q Deletion 25
999 c GLL041 Galloway-Mowat Syndrome 4 25
1000 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1001 PRS115 Prosthetic Joint Infection 25
1002 EF001 Eaf 25
1003 INV022 Inverted Duplicated Chromosome 15 Syndrome 25
1004 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 25
1005 c CLR107 Ciliary Dyskinesia, Primary, 24 25
1006 SPC030 Specific Language Disorder 24
1007 PSD050 Pseudoxanthoma Elasticum, Forme Fruste 24
1008 c ACT259 Acute Myeloid Leukemia with T(6;9) (p23;q34.1) 24
1009 c ACR105 Acrofrontofacionasal Dysostosis 2 24
1010 c NNP012 Nanophthalmos 4 24
1011 c SCK037 Seckel Syndrome 9 24
1012 c INT424 Intellectual Developmental Disorder, X-Linked 97 24
1013 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1014 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
1015 c ATS365 Autism X-Linked 1 24
1016 c SCK038 Seckel Syndrome 10 24
1017 P PLY188 Polyendocrinopathy 24
1018 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 24
1019 RCK003 Rickettsialpox 24
1020 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1021 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 24
1022 ART154 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 24
1023 MTP004 Metaphyseal Acroscyphodysplasia 24
1024 c ATS268 Autism X-Linked 4 24
1025 c GLC054 Glaucoma 3, Primary Congenital, D 24
1026 c HRD210 Hereditary Spastic Paraplegia 23 24
1027 c INT427 Intellectual Developmental Disorder, X-Linked 90 24
1028 DRG016 Drug Induced Dyskinesia 24
1029 SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 24
1030 c CLR088 Ciliary Dyskinesia, Primary, 21 24
1031 PRN035 Perniosis 24
1032 P PHC014 Phocomelia 24
1033 c DYS068 Dystonia 7, Torsion 24
1034 c WLL038 Weill-Marchesani Syndrome 3 24
1035 16P004 16p13.11 Microduplication Syndrome 24
1036 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 24
1037 CHR555 Chromosome 3p- Syndrome 24
1038 P PHC019 Pheochromocytoma-Paraganglioma 24
1039 c HRD212 Hereditary Episodic Ataxia 24
1040 ATX037 Ataxia-Deafness-Retardation Syndrome 24
1041 16P003 16p13.11 Microdeletion Syndrome 24
1042 c TRS027 Torsion Dystonia 4 24
1043 c CTR169 Cataract 29 24
1044 c INT426 Intellectual Developmental Disorder, X-Linked 41 24
1045 CLC053 Colchicine Poisoning 24
1046 c ATM066 Autoimmune Polyendocrinopathy Type 4 24
1047 c DMN028 Diamond-Blackfan Anemia 12 24
1048 MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 24
1049 SNK001 Snakebite Envenomation 24
1050 c ACR123 Aicardi-Goutieres Syndrome 8 24
1051 c INT397 Intellectual Developmental Disorder, X-Linked 50 24
1052 MST020 Mast Cell Activation Syndrome 24
1053 TRC037 Tracheobronchomalacia 24
1054 TRP020 Tropical Endomyocardial Fibrosis 24
1055 c SYS081 Systemic Lupus Erythematosus 17 24
1056 c PRS117 Prostate Cancer, Hereditary, 11 24
1057 NPH027 Nipah Virus Encephalitis 24
1058 c CTR165 Cataract 19, Multiple Types 24
1059 GGN004 Gigantomastia 24
1060 c INT411 Intellectual Developmental Disorder, X-Linked 72 24
1061 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 24
1062 CHR703 Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb 24
1063 c SPS042 Spastic Paraplegia 9 24
1064 c CLR139 Ciliary Dyskinesia, Primary, 39 24
1065 c CLR142 Ciliary Dyskinesia, Primary, 42 24
1066 DBL004 Double Discordia 24
1067 c DYS138 Dystonia 21 23
1068 c CTR162 Cataract 47 23
1069 c CNG562 Congenital Hypogonadotropic Hypogonadism 23
1070 c INS009 Insulin-Resistance Type B 23
1071 GNR023 Generalized Eruptive Histiocytosis 23
1072 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
1073 c SCN059 Secondary Sclerosing Cholangitis 23
1074 FLL042 Folliculotropic Mycosis Fungoides 23
1075 MYC013 Mycobacterium Abscessus 23
1076 CHR158 Charles Bonnet Syndrome 23
1077 c CHL114 Chilblain Lupus 2 23
1078 NNT021 Neonatal Meningitis 23
1079 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 23
1080 c CRB226 Cerebral Cavernous Malformations 4 23
1081 c GLL053 Galloway-Mowat Syndrome 10 23
1082 c ALZ032 Alzheimer Disease 18 23
1083 c SPS230 Spastic Paraplegia Type 49 23
1084 c CTR136 Cataract 41 23
1085 CLV012 Clavicle, Pseudarthrosis of, Congenital 23
1086 ATH004 Athetosis 23
1087 c ATS209 Autosomal Dominant Secondary Polycythemia 23
1088 c 46X011 46, Xy Disorders of Sexual Development 23
1089 HVY002 Heavy Metal Poisoning 23
1090 HRD218 Hereditary Stomatocytosis 23
1091 c CTR157 Cataract 28 23
1092 P ADL037 Adult Xanthogranuloma 23
1093 c MCR283 Microcephaly and Chorioretinopathy 2 23
1094 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
1095 STR077 Streptococcal Toxic-Shock Syndrome 23
1096 LMN011 Laminopathy 23
1097 c CTR158 Cataract 37 23
1098 STR088 Stratton-Parker Syndrome 23
1099 c CRB209 Cerebellar Malformation 23
1100 CRS011 Criss-Cross Heart 23
1101 LCT017 Lactate Dehydrogenase B Deficiency 23
1102 SNN001 Sennetsu Fever 23
1103 c DYS219 Dystonia 33 23
1104 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 23
1105 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1106 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 23
1107 JNT004 Joint Laxity, Short Stature, and Myopia 23
1108 c ALZ053 Alzheimer Disease 7 23
1109 SDD004 Sudden Arrhythmia Death Syndrome 23
1110 c ANG072 Angioedema, Hereditary, 4 23
1111 c CLR126 Ciliary Dyskinesia, Primary, 35 23
1112 c GLL047 Galloway-Mowat Syndrome 8 23
1113 c EPL136 Epilepsy, Childhood Absence 5 23
1114 FLY003 Flynn-Aird Syndrome 23
1115 BRC020 Brachydactylous Dwarfism Mseleni Type 23
1116 c VNT026 Ventricular Septal Defect 2 23
1117 c RDC016 Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset 23
1118 CMP039 Camptodactyly 1 23
1119 CHR612 Chromosome 15q14 Deletion Syndrome 23
1120 c RFR014 Refractory Anemia with Excess Blasts Type 2 23
1121 c DMN030 Diamond-Blackfan Anemia 13 23
1122 c BNM033 Bone Marrow Failure Syndrome 5 23
1123 c DYS216 Dystonia 32 23
1124 P 8P1002 8p11 Myeloproliferative Syndrome 22
1125 CTR027 Cataract-Glaucoma 22
1126 CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 22
1127 c RNG025 Ring Chromosome 9 22
1128 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 22
1129 c ALZ060 Alzheimer Disease 14 22
1130 c OST171 Osteopetrosis, Autosomal Dominant 3 22
1131 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 22
1132 c HRN024 Horner Syndrome, Congenital 22
1133 P RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 22
1134 c CTR184 Cataract 39, Multiple Types 22
1135 c ALZ031 Alzheimer Disease 17 22
1136 c CHR059 Chronic Endophthalmitis 22
1137 c ACQ004 Acquired Hemangioma 22
1138 FBR087 Fibromatosis, Gingival, with Distinctive Facies 22
1139 SCH025 Schisis Association 22
1140 c TRN053 Transient Pseudohypoaldosteronism 22
1141 c STC012 Stickler Syndrome, Type Iv 22
1142 c PRK106 Parkinsonism-Dystonia 2, Infantile-Onset 22
1143 c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 22
1144 c ATR064 Atrioventricular Septal Defect 3 22
1145 SPR064 Supernumerary Breasts 22
1146 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 22
1147 VSC014 Vascular Hyalinosis 22
1148 c CTR106 Cataract 20, Multiple Types 22
1149 c SYS040 Systemic Lupus Erythematosus 10 22
1150 c PTT042 Pitt-Hopkins-Like Syndrome 22
1151 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
1152 BLL015 Bullous Lichen Planus 22
1153 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 22
1154 P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 22
1155 c NTR045 Neutropenia, Chronic Familial 22
1156 c CLR145 Ciliary Dyskinesia, Primary, 45 22
1157 INT231 Intellectual Disability - Athetosis - Microphthalmia 22
1158 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 22
1159 c LTH031 Lethal Congenital Contracture Syndrome 6 22
1160 PSD043 Pseudopelade of Brocq 22
1161 HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 22
1162 ULN014 Ulnar Hemimelia 22
1163 NNT024 Neonatal Stroke 22
1164 c PRS070 Prostate Cancer, Hereditary, 12 22
1165 c INT406 Intellectual Developmental Disorder, X-Linked 58 22
1166 PYT001 Pythiosis 22
1167 c CLR124 Ciliary Dyskinesia, Primary, 34 22
1168 c 3MT026 3-Methylglutaconic Aciduria, Type Viia 22
1169 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 22
1170 c CTR110 Cataract 26, Multiple Types 22
1171 HYP641 Hypotrichosis Simplex of the Scalp 22
1172 c INT438 Intellectual Developmental Disorder, X-Linked 103 22
1173 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 22
1174 c SCN048 Secondary Syringomyelia 22
1175 c DYS214 Dystonia 31 22
1176 c EPL137 Epilepsy, Childhood Absence 6 22
1177 c CNG618 Congenital Nystagmus 1 22
1178 ULN005 Ulna and Fibula, Hypoplasia of 22
1179 ACT174 Acute Peripheral Arterial Occlusion 22
1180 c PRG143 Progressive Myoclonus Epilepsy 7 22
1181 c TRS012 Trisomy 22 22
1182 LJN002 Lujan Syndrome 22
1183 DST045 Distal Trisomy 6p 22
1184 c SYS038 Systemic Lupus Erythematosus 2 22
1185 c RNG012 Ring Chromosome 17 22
1186 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
1187 CHR567 Chromosome 5q12 Deletion Syndrome 22
1188 P HRT017 Heart Tumor 22
1189 HYP188 Hypnic Headache 22
1190 c SYS069 Systemic Lupus Erythematosus 6 22
1191 AML004 Ameloblastic Carcinoma 22
1192 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 22
1193 c GLC089 Glaucoma 3, Primary Congenital, E 22
1194 NWD001 New Daily-Persistent Headache 22
1195 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
1196 c SBC004 Subacute Myeloid Leukemia 21
1197 CYN003 Cyanide Poisoning 21
1198 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 21
1199 CRT061 Cor Triatriatum Dexter 21
1200 CRN309 Cranial Neuralgia 21
1201 RTR012 Retroperitoneal Liposarcoma 21
1202 P IDP049 Idiopathic Anterior Uveitis 21
1203 LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 21
1204 P PTR018 Paternal Uniparental Disomy of Chromosome 6 21
1205 c TRC126 Treacher Collins Syndrome 4 21
1206 c HYP832 Hypotrichosis 14 21
1207 P CNG070 Congenital Dislocation of the Patella 21
1208 MRF007 Marfanoid Hypermobility Syndrome 21
1209 LWG005 Low-Grade Astrocytoma 21
1210 c INT445 Intellectual Developmental Disorder, X-Linked 107 21
1211 c CTR160 Cataract 45 21
1212 TTR018 Tetragametic Chimerism 21
1213 CCC003 Coccygodynia 21
1214 c CLR144 Ciliary Dyskinesia, Primary, 44 21
1215 c STC020 Stickler Syndrome, Type Vi 21
1216 SMM003 Summitt Syndrome 21
1217 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
1218 MYP064 Myopericytoma 21
1219 DST059 Distal Trisomy 17q 21
1220 c CLC048 Celiac Disease 3 21
1221 THM005 Thumb Deformity 21
1222 c NNP017 Nanophthalmos 1 21
1223 SPS087 Spasmus Nutans 21
1224 PNH004 Panhypophysitis 21
1225 c KMT002 Kmt2b-Related Dystonia 21
1226 CNG519 Congenital Gerbode Defect 21
1227 RTH002 Rutherfurd Syndrome 21
1228 c CTR144 Cataract 43 21
1229 TRC114 Trichodental Dysplasia 21
1230 PDT027 Pediatric Ulcerative Colitis 21
1231 c CTR178 Cataract 27 21
1232 SYN149 Syndromic Rod-Cone Dystrophy 21
1233 c HRD198 Hereditary Dystonia 21
1234 HMP027 Hemiparkinsonism-Hemiatrophy Syndrome 21
1235 PPL053 Papillomatosis, Florid, of Nipple 21
1236 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 21
1237 HST018 Histiocytosis, Progressive Mucinous 21
1238 PDT041 Pediatric Arterial Ischemic Stroke 21
1239 P CTS012 Cutis Verticis Gyrata 21
1240 c PRG146 Progressive Myoclonus Epilepsy 9 21
1241 LNR010 Linear Lichen Planus 21
1242 EPG004 Epignathus 21
1243 ERY023 Erythroplakia 21
1244 c ZKV002 Zika Virus Congenital Syndrome 21
1245 GLC039 Glucosephosphate Isomerase Deficiency 21
1246 PST040 Posterior Column Ataxia 21
1247 c BNM034 Bone Marrow Failure Syndrome 6 21
1248 EXN003 Exencephaly 21
1249 MYC021 Mycobacterium Xenopi 21
1250 PST114 Postinfectious Cerebellitis 21
1251 CRN308 Coronary Arterial Fistula 21
1252 PNC059 Punctate Inner Choroidopathy 21
1253 BRC046 Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 21
1254 BRT037 Brittle Diabetes 21
1255 IDP034 Idiopathic Central Precocious Puberty 21
1256 c ADL071 Adult Krabbe Disease 21
1257 CGT001 Ciguatera Fish Poisoning 21
1258 BDY022 Body Integrity Dysphoria 21
1259 SYN106 Syndromic Craniosynostosis 21
1260 NNF008 Non-Functioning Paraganglioma 21
1261 c INT423 Intellectual Developmental Disorder, X-Linked 96 21
1262 c DYS223 Dystonia 28 21
1263 c DMN040 Diamond-Blackfan Anemia 16 20
1264 1QD001 1q Duplications 20
1265 NDD001 Nodding Syndrome 20
1266 HYP878 Hypomyelination of Early Myelinating Structures 20
1267 c HYP573 Hypotrichosis 5 20
1268 c CTR128 Cataract 33 20
1269 c SPN403 Spinocerebellar Ataxia, X-Linked 2 20
1270 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 20
1271 c ACR103 Acrofrontofacionasal Dysostosis 1 20
1272 c CTR159 Cataract 35 20
1273 c SPN259 Spinocerebellar Ataxia 32 20
1274 FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 20
1275 P ERL043 Early-Onset Nuclear Cataract 20
1276 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 20
1277 HTR005 Heterochromia Iridis 20
1278 c GLL052 Galloway-Mowat Syndrome 9 20
1279 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 20
1280 c INT496 Intellectual Developmental Disorder, X-Linked 45 20
1281 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 20
1282 c CTR139 Cataract 42 20
1283 ISD002 Isodicentric Chromosome 15 Syndrome 20
1284 ENG004 Engraftment Syndrome 20
1285 PRM157 Primary Progressive Freezing Gait 20
1286 GRW021 Growing Teratoma Syndrome 20
1287 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 20
1288 c ANG073 Angioedema, Hereditary, 5 20
1289 TRS010 Trisomy 17 Mosaicism 20
1290 DSS012 Disseminated Infection with Mycobacterium Avium Complex 20
1291 MTH086 Methotrexate Toxicity 20
1292 ORF044 Orofacial Granulomatosis 20
1293 8P1001 8p11.2 Deletion Syndrome 20
1294 c CLC046 Celiac Disease 5 20
1295 EGL001 Eagle Syndrome 20
1296 PTR029 Pterygium, Antecubital 20
1297 P HRD209 Hereditary Angioedema with Normal C1inh 20
1298 c ANG074 Angioedema, Hereditary, 6 20
1299 c PSR022 Psoriasis 15, Pustular 20
1300 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
1301 c PRS081 Prostate Cancer, Hereditary, 9 20
1302 DST036 Distal Trisomy 15q 20
1303 HMR016 Humeroradioulnar Synostosis 20
1304 BMR004 Beemer Lethal Malformation Syndrome 20
1305 c ACQ027 Acquired Cutis Laxa 20
1306 c SVR103 Severe Congenital Neutropenia 1 20
1307 c HYD070 Hydrocephalus, Congenital Communicating, 1 20
1308 CRY024 Crystal Arthropathies 20
1309 ART109 Arterial Thoracic Outlet Syndrome 20
1310 c STC011 Stickler Syndrome, Type V 20
1311 c DMN039 Diamond-Blackfan Anemia 17 20
1312 BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 20
1313 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 20
1314 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 20
1315 EXT063 Extrapelvic Endometriosis 20
1316 c PRS134 Prostate Cancer, Hereditary, 3 20
1317 RCK009 Rickettsial Disease 20
1318 HRP026 Herpetiform Pemphigus 20
1319 PRG077 Progressive Nodular Histiocytosis 20
1320 ESN012 Eosinophilic Cryptitis 20
1321 c ANN021 Anencephaly 2 20
1322 c DMN047 Diamond-Blackfan Anemia 18 20
1323 PST047 Post-Traumatic Epilepsy 20
1324 DSM006 Desmoplastic Infantile Ganglioglioma 20
1325 c INT492 Intellectual Developmental Disorder, X-Linked 2 20
1326 MYC088 Mycobacterium Avium Complex Infections 20
1327 EPB002 Epiblepharon 19
1328 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 19
1329 INT104 Intravascular Papillary Endothelial Hyperplasia 19
1330 17Q009 17q12 Recurrent Deletion Syndrome 19
1331 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 19
1332 P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 19
1333 c SYS041 Systemic Lupus Erythematosus 9 19
1334 MLT131 Multifocal Atrial Tachycardia 19
1335 c ADD007 Adducted Thumbs, Congenital 19
1336 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1337 c ATS454 Autosomal Trisomy 19
1338 c LTY001 Late Yaws 19
1339 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 19
1340 PRM138 Pure Mitochondrial Myopathy 19
1341 CNT088 Central Cloudy Dystrophy of Francois 19
1342 c PRS135 Prostate Cancer, Hereditary, 4 19
1343 IDP033 Idiopathic Edema 19
1344 c CLR147 Ciliary Dyskinesia, Primary, 46 19
1345 BLT023 Bilateral Acute Depigmentation of the Iris 19
1346 CRV062 Cervical Spina Bifida Cystica 19
1347 DSM005 Desmoplastic Infantile Astrocytoma 19
1348 c HNT013 Huntington Disease-Like Syndrome 19
1349 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
1350 c INT440 Intellectual Developmental Disorder, X-Linked 105 19
1351 PSD084 Pseudo-Meigs Syndrome 19
1352 CHL084 Cholesterol Pneumonia 19
1353 c ATM115 Autoimmune Limbic Encephalitis 19
1354 ISL154 Isolated Exencephaly 19
1355 VLV042 Vulvar Vestibulitis Syndrome 19
1356 IGG010 Igg4-Related Aortitis 19
1357 c MLG144 Malignant Hemangioma 19
1358 c PRM316 Primary Congenital Hypothyroidism 19
1359 FTZ002 Fitz-Hugh-Curtis Syndrome 19
1360 19P003 19p13.3 Microduplication Syndrome 19
1361 c TYS005 Tay-Sachs Disease, B1 Variant 19
1362 c ART175 Arthrogryposis, Distal, Type 11 19
1363 MCR303 Macrosomia with Microphthalmia, Lethal 19
1364 c CLR141 Ciliary Dyskinesia, Primary, 41 19
1365 c ACT269 Acute Myeloid Leukemia with T(8;21); (q22; Q22.1) 19
1366 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 19
1367 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 19
1368 CYT017 Cytophagic Histiocytic Panniculitis 19
1369 c ANG076 Angioedema, Hereditary, 8 19
1370 PMP003 Pemphigus and Fogo Selvagem 19
1371 P ATS469 Autosomal Monosomy 19
1372 c INT433 Intellectual Developmental Disorder, X-Linked 101 19
1373 CXR001 Coxoauricular Syndrome 19
1374 MTT004 Metatarsus Adductus 19
1375 ACH040 Achoo Syndrome 19
1376 P WHS002 Whistling Face Syndrome, Recessive Form 19
1377 CNG609 Congenital Left Ventricular Aneurysm 19
1378 c DMN050 Diamond-Blackfan Anemia 21 19
1379 c ART054 Arthrogryposis, Distal, Type 2e 18
1380 SXC007 Sex-Chromosome Anomaly 18
1381 c DMN048 Diamond-Blackfan Anemia 19 18
1382 LMB056 Lumbosacral Spina Bifida Cystica 18
1383 LMB057 Lumbosacral Spina Bifida Aperta 18
1384 c CTR190 Cataract 49 18
1385 CRB203 Caribbean Parkinsonism 18
1386 c INT494 Intellectual Developmental Disorder, X-Linked 46 18
1387 TTR021 Tetrasomy 21 18
1388 MYS028 Myospherulosis 18
1389 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 18
1390 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 18
1391 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 18
1392 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 18
1393 c MCH012 Machado-Joseph Disease Type 1 18
1394 PLS037 Plasma Cell Tumor 18
1395 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 18
1396 c CNG578 Congenital Hemangioma 18
1397 3Q2006 3q27.3 Microdeletion Syndrome 18
1398 P CNG515 Congenital Zika Syndrome 18
1399 c HVP001 Hivep2-Related Intellectual Disability 18
1400 GLC088 Glaucoma and Sleep Apnea 18
1401 c MTR063 Maternal Uniparental Disomy of Chromosome 2 18
1402 CTN031 Cutaneous Pseudolymphoma 18
1403 ZBR001 Zebra Body Myopathy 18
1404 LMB009 Lambdoid Synostosis 18
1405 DST069 Distal Monosomy 12q 18
1406 HRD208 Hereditary Angioedema with C1inh Deficiency 18
1407 c CLC037 Celiac Disease 4 18
1408 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 18
1409 CHR257 Chromosome 6q Deletion 18
1410 BRC096 Brachydactyly-Distal Symphalangism Syndrome 18
1411 c TTL009 Total Spina Bifida Aperta 18
1412 MSC086 Mesocardia 18
1413 NTL003 Notalgia Paresthetica 18
1414 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
1415 c HYP311 Hyperparathyroidism 3 18
1416 DYS049 Dysplastic Cortical Hyperostosis 18
1417 CHR199 Chromosome 15q Duplication 18
1418 NND001 Nondystrophic Myotonia 18
1419 PFF010 Pfeiffer-Palm-Teller Syndrome 18
1420 RDC003 Red Cell Phospholipid Defect with Hemolysis 18
1421 THR084 Thoracolumbosacral Spina Bifida Cystica 18
1422 THR085 Thoracolumbosacral Spina Bifida Aperta 18
1423 HRM025 Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency 18
1424 c SYS065 Systemic Lupus Erythematosus 11 18
1425 VND003 Van Den Bosch Syndrome 18
1426 IDP041 Idiopathic Recurrent Pericarditis 18
1427 CHR220 Chromosome 1p Deletion 18
1428 CGH002 Cough Headache 18
1429 GRV012 Grover's Disease 18
1430 SYM006 Symmetrical Thalamic Calcifications 18
1431 DYS053 Dystelephalangy 18
1432 HHV001 Hhv-6 Encephalitis 18
1433 c SYS046 Systemic Lupus Erythematosus 3 18
1434 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 18
1435 c CLC040 Celiac Disease 6 18
1436 THN005 Thunderclap Headache 17
1437 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 17
1438 CNG284 Congenital Pseudoarthrosis of the Tibia 17
1439 GRN042 Granulomatous Lobular Mastitis 17
1440 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1441 MSC078 Mosaic Trisomy 17 17
1442 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
1443 c ANG075 Angioedema, Hereditary, 7 17
1444 P CRY006 Cryofibrinogenemia 17
1445 c PLL014 Pellagra-Like Syndrome 17
1446 MTG002 Mutagen Sensitivity 17
1447 PRN056 Parana Hard-Skin Syndrome 17
1448 c SBC039 Subacute Cerebellar Degeneration 17
1449 CLS032 Clostridium Perfringens Infection 17
1450 LNP001 Loin Pain Hematuria Syndrome 17
1451 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 17
1452 WYR003 Weyers Ulnar Ray/oligodactyly Syndrome 17
1453 MXL011 Maxillofacial Dysostosis 17
1454 RMT001 Remitting Seronegative Symmetrical Synovitis with Pitting Edema 17
1455 c KLL005 Kallmann Syndrome 3 17
1456 CMP097 Complex Chromosomal Rearrangement 17
1457 RTF001 Retiform Hemangioendothelioma 17
1458 WND005 Wound Myiasis 17
1459 CHS007 Chester Porphyria 17
1460 c SYS048 Systemic Lupus Erythematosus 8 17
1461 11Q001 11q22.2q22.3 Microdeletion Syndrome 17
1462 EXT050 Extraneural Perineurioma 17
1463 c ACQ053 Acquired Neutropenia 17
1464 c INT432 Intellectual Developmental Disorder, X-Linked 100 17
1465 c SYN040 Synpolydactyly 3 17
1466 c MYG006 Myoglobinuria, Autosomal Dominant 17
1467 c SX2003 Six2-Related Frontonasal Dysplasia 17
1468 MDL024 Madelung Deformity 17
1469 ACT170 Acute Ackee Fruit Intoxication 17
1470 PRP069 Purpura Simplex 17
1471 CRN287 Carnitine Deficiency, Myopathic 17
1472 TRP010 Treponema Infection 17
1473 6P2001 6p22 Microdeletion Syndrome 17
1474 LCT008 Lactate Dehydrogenase Deficiency 17
1475 LTN011 Late-Onset Isolated Acth Deficiency 17
1476 DST035 Distal Trisomy 18q 17
1477 ODN005 Odontogenic Myxoma 17
1478 HMF003 Hemifacial Myohyperplasia 17
1479 16P005 16p11.2p12.2 Microduplication Syndrome 17
1480 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
1481 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 17
1482 c KLL007 Kallmann Syndrome 5 17
1483 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
1484 c INT485 Intellectual Developmental Disorder, X-Linked 23 17
1485 CHR235 Chromosome 22q Deletion 17
1486 INF182 Infection-Related Hemolytic Uremic Syndrome 17
1487 DST082 Distal Trisomy 10q 17
1488 LWF001 Low-Flow Priapism 17
1489 MRF015 Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome 17
1490 CLL035 Collagen Type Iii Glomerulopathy 17
1491 ETN003 Eating Reflex Epilepsy 17
1492 ALN006 Alien Hand Syndrome 17
1493 QLT009 Qualitative or Quantitative Defects of Caveolin-3 17
1494 CHR249 Chromosome 4q Deletion 17
1495 ENC045 Encephalopathy, Recurrent, of Childhood 17
1496 ANN014 Annular Lichen Planus 17
1497 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 17
1498 LMB071 Lambotte Syndrome 17
1499 c SYS053 Systemic Lupus Erythematosus 5 17
1500 MSP003 Misophonia 17
1501 c FBR077 Fibromatosis, Gingival, 3 17
1502 STC004 Stachybotrys Chartarum 17
1503 P PRM210 Primary Lipodystrophy 17
1504 FRS011 First Branchial Cleft Anomaly 17
1505 CLC064 Calcifying Aponeurotic Fibroma 17
1506 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 17
1507 CSK001 Cask-Related Disorders 16
1508 c ERL044 Early-Onset Posterior Polar Cataract 16
1509 c SPN107 Spinocerebellar Ataxia 9 16
1510 c SYS051 Systemic Lupus Erythematosus 4 16
1511 INT102 Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity 16
1512 CHR183 Chromosome 10q Deletion 16
1513 c PRG148 Progressive Myoclonus Epilepsy 1a 16
1514 c CNG433 Congenital Cornea Plana 16
1515 c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16
1516 HLL014 Hallux Varus and Preaxial Polysyndactyly 16
1517 CRV046 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction 16
1518 c KLP012 Klippel-Feil Syndrome 1 16
1519 CTN020 Cutaneous Sclerosis 16
1520 MYX011 Myxozoa 16
1521 IRS009 Iris Hypoplasia with Glaucoma 16
1522 MYC016 Mycobacterium Gordonae 16
1523 MYL074 Myelodysplastic Syndrome with Excess Blasts 16
1524 GMB001 Gombo Syndrome 16
1525 TRP027 Triphalangeal Thumb, Nonopposable 16
1526 DRM038 Dermotrichic Syndrome 16
1527 c CLC039 Celiac Disease 13 16
1528 EPL161 Epilepsy, Reading 16
1529 CHR264 Chromosome 8p Deletion 16
1530 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 16
1531 ALD006 Aldred Syndrome 16
1532 PSD026 Pseudoainhum 16
1533 HSH001 Hashimoto-Pritzker Syndrome 16
1534 LTH004 Lathyrism 16
1535 RDT014 Radiation Myelitis 16
1536 c TRN047 Transient Congenital Hypothyroidism 16
1537 LKT001 Leukotriene C4 Synthase Deficiency 16
1538 c CLC045 Celiac Disease 2 16
1539 PLR025 Pleuroparenchymal Fibroelastosis 16
1540 PSD079 Pseudoangiomatous Stromal Hyperplasia 16
1541 c INF119 Infantile Mercury Poisoning 16
1542 CHR250 Chromosome 4q Duplication 16
1543 VRB002 Variably Protease-Sensitive Prionopathy 16
1544 ITR003 Iatrogenic Creutzfeldt-Jakob Disease 16
1545 MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 16
1546 c FCL065 Facial Palsy, Familial Recurrent Peripheral 16
1547 FXG002 Foxg1 Syndrome Due to 14q12 Microdeletion 16
1548 BLD072 Bleeding Disorder, East Texas Type 16
1549 c ATS177 Autism X-Linked 5 16
1550 INT302 Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 16
1551 c LTN017 Late-Infantile/juvenile Krabbe Disease 16
1552 c ACR115 Acrorenal Syndrome, Autosomal Recessive 16
1553 c INT490 Intellectual Developmental Disorder, X-Linked 73 16
1554 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 16
1555 c SYS055 Systemic Lupus Erythematosus 12 16
1556 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
1557 c ALP036 Alopecia, Androgenetic, 2 16
1558 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 16
1559 CRN324 Corneal Endotheliitis 16
1560 RDT004 Radiation Induced Brachial Plexopathy 16
1561 MTT008 Mt-Atp6-Related Mitochondrial Spastic Paraplegia 16
1562 ESP040 Esophageal Duplication Cyst 16
1563 FBR091 Fibroblastic Rheumatism 16
1564 c SVR105 Severe Congenital Neutropenia 2 16
1565 CHR556 Chromosome 3q Duplication 16
1566 c LMN017 Lmnb1-Related Autosomal Dominant Leukodystrophy 16
1567 DBL009 Double Inferior Vena Cava 16
1568 CHR239 Chromosome 2q Deletion 16
1569 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 16
1570 PRX095 Proximal Myopathy with Focal Depletion of Mitochondria 16
1571 ASR001 Asrar Facharzt Haque Syndrome 15
1572 GRN021 Granulomatous Rosacea 15
1573 ANL019 Anal Sphincter Dysplasia 15
1574 PST104 Postaxial Oligodactyly, Tetramelic 15
1575 TRG017 Trigeminal Trophic Syndrome 15
1576 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 15
1577 CHR261 Chromosome 7p Duplication 15
1578 DFN014 Deafness Nephritis Anorectal Malformation 15
1579 9Q2003 9q21.13 Microdeletion Syndrome 15
1580 PST037 Pasteurella Multocida Infection 15
1581 c PRM369 Primary Acquired Pure Red Cell Aplasia 15
1582 CHR198 Chromosome 15q Deletion 15
1583 HPS001 Hip Subluxation 15
1584 DGT004 Digitalis Poisoning 15
1585 IDP023 Idiopathic Subglottic Tracheal Stenosis 15
1586 CHR214 Chromosome 18q Duplication 15
1587 c PST110 Posterior Corneal Dystrophy 15
1588 MCD003 Mcdowall Syndrome 15
1589 KSZ002 Kosztolanyi Syndrome 15
1590 KCN010 Kcnq2-Related Disorders 15
1591 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 15
1592 CLF033 Cleft Mitral Valve 15
1593 c HYP551 Hypotrichosis 9 15
1594 CHR181 Chromosome 10p Deletion 15
1595 c INT487 Intellectual Developmental Disorder, X-Linked 14 15
1596 c INT499 Intellectual Developmental Disorder, X-Linked 95 15
1597 CHR238 Chromosome 2p Duplication 15
1598 BSL013 Basaloid Follicular Hamartoma 15
1599 c RRD018 Rare Disease with Pierre Robin Syndrome 15
1600 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 15
1601 c HRN019 Hair-an Syndrome 15
1602 MYC018 Mycobacterium Malmoense 15
1603 c HYP544 Hypotrichosis 10 15
1604 GSB001 Gas Bloat Syndrome 15
1605 CHR195 Chromosome 14q Deletion 15
1606 OLG014 Oligocone Trichromacy 15
1607 c INT495 Intellectual Developmental Disorder, X-Linked 77 15
1608 ISL072 Isolated Levocardia 15
1609 FTL024 Fetal Minoxidil Syndrome 15
1610 CHR258 Chromosome 6q Duplication 15
1611 PRT165 Partial Deletion of the Short Arm of Chromosome 7 15
1612 BTT012 Battaglia-Neri Syndrome 15
1613 PRS132 Parasomnia, Sleep Bruxism Type 15
1614 CRT056 Carotidynia 15
1615 c DYS194 Dysautonomia-Like Disorder 15
1616 LGR001 Laugier-Hunziker Syndrome 15
1617 CHR256 Chromosome 6p Duplication 15
1618 ANG034 Angiosarcoma of the Scalp 15
1619 INF184 Infective Keratitis 15
1620 KLN003 Kaolin Pneumoconiosis 15
1621 SMC003 Semicircular Canal Dehiscence Syndrome 15
1622 c SYS052 Systemic Lupus Erythematosus 13 15
1623 c TBB006 Tubb4a-Related Leukodystrophy 15
1624 c TMT004 Timothy Syndrome Type 1 15
1625 PRM153 Primary Progressive Apraxia of Speech 15
1626 ACR027 Acrodysplasia Scoliosis 15
1627 CTT001 Catatrichy 15
1628 PDT046 Pediatric-Onset Graves Disease 15
1629 KNS003 Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 15
1630 c JVN045 Juvenile Ossifying Fibroma 15
1631 BNG042 Benign Multicystic Peritoneal Mesothelioma 15
1632 MRG007 Morgellons 15
1633 c CLS053 Cluster Headache, Familial 15
1634 ALC030 Alect2 Amyloidosis 15
1635 CNG097 Congenital Giant Megaureter 15
1636 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 15
1637 ARC024 Aurocephalosyndactyly 15
1638 VCT002 Vacterl Association with Hydrocephaly, X-Linked 15
1639 c CLC038 Celiac Disease 10 15
1640 BNT006 Bain Type of X-Linked Syndromic Intellectual Disability 15
1641 BDR001 Bidirectional Tachycardia 15
1642 CNG120 Congenital Pseudoarthrosis 15
1643 SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 15
1644 c KLP015 Klippel-Feil Syndrome 4 15
1645 c PRS074 Prostate Cancer, Hereditary, 10 15
1646 c KLL008 Kallmann Syndrome 6 15
1647 c CNG579 Congenital Nemaline Myopathy 15
1648 CHR223 Chromosome 1q Deletion 15
1649 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 14
1650 AML037 Amelia of Upper Limb 14
1651 NSP010 Nasopharyngeal Teratoma 14
1652 CHR240 Chromosome 2q Duplication 14
1653 VBR003 Vibrio Vulnificus Infection 14
1654 c INT489 Intellectual Developmental Disorder, X-Linked 53 14
1655 LMY012 Leiomyosarcoma of the Cervix Uteri 14
1656 FRT004 Fourth Branchial Cleft Anomaly 14
1657 CHR196 Chromosome 14q Duplication 14
1658 c ATS403 Autosomal Dominant Intellectual Disability 40 14
1659 MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14
1660 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
1661 AML008 Amelogenesis Imperfecta Local Hypoplastic 14
1662 MYL019 Myeloid Splenomegaly 14
1663 CHR254 Chromosome 5q Duplication 14
1664 P NNN030 Non-Infectious Anterior Uveitis 14
1665 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 14
1666 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 14
1667 RCT024 Reactive Angioendotheliomatosis 14
1668 JXT004 Juxtaposition of the Atrial Appendages 14
1669 PRG036 Progressive Transformation of Germinal Centers 14
1670 11P002 11p15.4 Microduplication Syndrome 14
1671 ISC019 Ischiovertebral Syndrome 14
1672 TRM021 Tremor, Nystagmus, and Duodenal Ulcer 14
1673 CLM004 Climatic Droplet Keratopathy 14
1674 GLM046 Glomus Vagale Tumor 14
1675 PPL044 Papular Elastorrhexis 14
1676 CHR244 Chromosome 3p Duplication 14
1677 CHR194 Chromosome 13q Duplication 14
1678 c ACQ036 Acquired Angioedema Type 2 14
1679 WRM002 Warman Mulliken Hayward Syndrome 14
1680 CHR263 Chromosome 7q Duplication 14
1681 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 14
1682 SBM006 Submucosal Cleft Palate 14
1683 P TRS005 Torsion Dystonia with Onset in Infancy 14
1684 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1685 CHR274 Chromosome Xq Duplication 14
1686 DST052 Distal 7q11.23 Microduplication Syndrome 14
1687 TRC061 Trichostasis Spinulosa 14
1688 PCH017 Pachygyria-Intellectual Disability-Epilepsy Syndrome 14
1689 CHR207 Chromosome 16q Duplication 14
1690 c ATS448 Autosomal Recessive Brachyolmia 14
1691 c MCR284 Microcephaly and Chorioretinopathy 3 14
1692 LTR017 Lateral Facial Cleft 14
1693 c GLL043 Galloway-Mowat Syndrome 2 14
1694 ACR022 Acardia 14
1695 c CLC009 Clcn7-Related Osteopetrosis 14
1696 ICH018 Ichthyosis Linearis Circumflexa 14
1697 GRN020 Granulomatous Hypophysitis 14
1698 MTR084 Maternal Hyperthermia-Induced Birth Defects 14
1699 CRN039 Carnitine Acetyltransferase Deficiency 14
1700 c SYS047 Systemic Lupus Erythematosus 7 14
1701 P LRY049 Laryngotracheoesophageal Cleft Type 4 14
1702 c GLC052 Glaucoma 3, Primary Congenital, C 14
1703 ATL006 Atlanto-Axial Fusion 14
1704 14Q003 14q11.2 Microduplication Syndrome 14
1705 NND004 Non-Distal Monosomy 10q 14
1706 CLR130 Ciliary Dyskinesia with Defective Radial Spokes 14
1707 INT093 Interferon Gamma, Receptor 1, Deficiency 14
1708 MDR001 Medeira-Dennis-Donnai Syndrome 14
1709 HML018 Homologous Wasting Disease 14
1710 MCL020 Macules Hereditary Congenital Hypopigmented and Hyperpigmented 14
1711 ANN018 Anonychia, Total, with Microcephaly 14
1712 MSM003 Mesomelia 14
1713 EXT060 Extragonadal Teratoma 14
1714 c CLC043 Celiac Disease 11 14
1715 c CLC047 Celiac Disease 8 14
1716 c CLC044 Celiac Disease 12 14
1717 DPL003 Diploid-Triploid Mosaicism 14
1718 THS001 Thai Symphalangism Syndrome 14
1719 EXG001 Exogenous Ochronosis 14
1720 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
1721 c INT497 Intellectual Developmental Disorder, X-Linked 84 14
1722 c MTR057 Maternal Uniparental Disomy of Chromosome X 14
1723 TLN004 Talonavicular Coalition 14
1724 c INT486 Intellectual Developmental Disorder, X-Linked 20 14
1725 c PRG147 Progressive Myoclonus Epilepsy 8 14
1726 SKD001 Sakoda Complex 14
1727 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1728 c ATS154 Autosomal Recessive Complex Spastic Paraplegia 14
1729 c CNG534 Congenital Cerebellar Ataxia Due to Rnu12 Mutation 14
1730 LFT005 Left-Sided Gallbladder 14
1731 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
1732 CLS034 Clostridium Septicum Infection 14
1733 MYS071 Myasthenia, Limb-Girdle, Autoimmune 14
1734 c CLC042 Celiac Disease 9 14
1735 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 14
1736 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 14
1737 CHR192 Chromosome 12q Duplication 14
1738 CYS023 Cystic Medial Necrosis of Aorta 14
1739 DXT003 Dextrocardia with Unusual Facies and Microphthalmia 14
1740 CNG053 Congenital Amputation 14
1741 RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 14
1742 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 14
1743 ART130 Arthrogryposis with Hyperkeratosis 14
1744 P CLD018 Cleidocranial Dysplasia, Recessive Form 14
1745 c PRG144 Progressive Myoclonus Epilepsy 1b 14
1746 JCK003 Jackhammer Esophagus 14
1747 ART129 Arterial Dissection with Lentiginosis 14
1748 ATT023 Attenuated Chediak-Higashi Syndrome 14
1749 RCS010 Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome 13
1750 HRR003 Herrmann Opitz Craniosynostosis 13
1751 EXR004 Exertional Headache 13
1752 SPN464 Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome 13
1753 FRM006 Formaldehyde Poisoning 13
1754 c ELN001 Elane-Related Neutropenia 13
1755 c ATS432 Autosomal Dominant Distal Myopathy 13
1756 IDP040 Idiopathic Eosinophilic Myositis 13
1757 FGS003 Fg Syndrome 3 13
1758 c JVN047 Juvenile Spondyloarthropathy 13
1759 TMP006 Temporomandibular Ankylosis 13
1760 EPS038 Episodic Angioedema with Eosinophilia 13
1761 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 13
1762 CHR170 Choroid Plexus Cyst 13
1763 INH017 Inherited Congenital Spastic Tetraplegia 13
1764 CNG587 Congenital Limb Malformation 13
1765 SPR072 Superficial Pemphigus 13
1766 PLB003 Pili Bifurcati 13
1767 c CTR176 Cataract, Age-Related Nuclear 13
1768 CHR233 Chromosome 21q Deletion 13
1769 c MCR185 Macrodactyly of Toes 13
1770 c NNP008 Nanophthalmos 3 13
1771 RDT017 Radiation-Induced Disorder 13
1772 CHR210 Chromosome 17q Duplication 13
1773 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 13
1774 c ATS360 Autosomal Recessive Intellectual Disability 58 13
1775 BWH001 Bow Hunter's Stroke 13
1776 MSC090 Mosaic Trisomy 3 13
1777 c PRS079 Prostate Cancer, Hereditary, 5 13
1778 c KLL006 Kallmann Syndrome 4 13
1779 CRC033 Circumscribed Palmoplantar Hypokeratosis 13
1780 c DPD002 Depdc5-Related Epilepsy 13
1781 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
1782 c CLC041 Celiac Disease 7 13
1783 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1784 CHR267 Chromosome 8q Deletion 13
1785 CHR260 Chromosome 7p Deletion 13
1786 TGV001 Togaviridae Disease 13
1787 RDR002 Rodrigues Blindness 13
1788 GLM036 Gliomatosis Peritonei 13
1789 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
1790 XLN144 X-Linked Intellectual Disability, Seemanova Type 13
1791 c INT493 Intellectual Developmental Disorder, X-Linked 81 13
1792 PRT087 Parietal Encephalocele 13
1793 c SYS045 Systemic Lupus Erythematosus 14 13
1794 THR034 Thoracopelvic Dysostosis 13
1795 SPR145 Superficial Fibromatosis 13
1796 CNG282 Congenital Knee Dislocation 13
1797 MCR060 Microcephaly with Spastic Quadriplegia 13
1798 c PRS076 Prostate Cancer, Hereditary, 15 13
1799 SLN002 Selenium Poisoning 13
1800 GLT042 Glutathione Synthetase Deficiency of Erythrocytes 13
1801 APD003 Apodia 13
1802 ATY027 Atypical Lichen Myxedematosus 13
1803 IDP038 Idiopathic Acute Transverse Myelitis 13
1804 c TMT005 Timothy Syndrome Type 2 13
1805 LYS028 Lysosomal Glycogen Storage Disease 13
1806 ACQ073 Acquired Factor X Deficiency 13
1807 CHR218 Chromosome 19q Duplication 13
1808 c INT382 Intermediate Atrioventricular Septal Defect 12
1809 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1810 c ACT254 Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2) 12
1811 ICH025 Ichthyosis, Follicular 12
1812 TRT022 True Thymic Hyperplasia 12
1813 SPR080 Spirillary Rat-Bite Fever 12
1814 c CNG253 Congenital Communicating Hydrocephalus 12
1815 PRT237 Partial Deletion of the Long Arm of Chromosome 16 12
1816 INF059 Infundibulopelvic Dysgenesis 12
1817 STN013 Stenotrophomonas Maltophilia Infection 12
1818 EXS022 Exostosis, Dupuytren Subungual 12
1819 RKT003 Rokitansky-Aschoff Sinuses of the Gallbladder 12
1820 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 12
1821 PRT169 Partial Deletion of the Short Arm of Chromosome 11 12
1822 HLP030 Holoprosencephaly-Caudal Dysgenesis Syndrome 12
1823 ACQ077 Acquired Factor Vii Deficiency 12
1824 MTC196 Mitochondrial Disease with Epilepsy 12
1825 PRC041 Pericardial and Diaphragmatic Defect 12
1826 SYN120 Syndromic Oculocutaneous Albinism 12
1827 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 12
1828 MLH001 Melhem Fahl Syndrome 12
1829 ONY002 Onychotrichodysplasia and Neutropenia 12
1830 LWR014 Lower Limb Hypertrophy 12
1831 P RRN003 Rare Non-Syndromic Intellectual Disability 12
1832 CYS035 Cystic Adventitial Disease 12
1833 c PRS075 Prostate Cancer, Hereditary, 14 12
1834 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 12
1835 c SPR097 Sporadic Hyperekplexia 12
1836 VRL018 Virilizing Ovarian Tumor 12
1837 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 12
1838 INF134 Infective Myositis 12
1839 PRL020 Paralysis Agitans, Juvenile, of Hunt 12
1840 DST089 Distal Trisomy 3p 12
1841 LMY006 Leiomyoma of Vulva and Esophagus 12
1842 ORB016 Orbital Varix 12
1843 c QLT013 Qualitative or Quantitative Defects of Beta-Sarcoglycan 12
1844 CND035 Cone Dystrophy, X-Linked, with Tapetal-Like Sheen 12
1845 c TRS033 Trisomy 18-Like Syndrome 12
1846 c PRM188 Primary Cutis Verticis Gyrata 12
1847 DRT002 Duarte Variant Galactosemia 12
1848 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
1849 DFC001 Defective Apolipoprotein B-100 12
1850 DTR002 Dieterich's Disease 12
1851 PLN009 Palant Cleft Palate Syndrome 12
1852 PRT186 Partial Duplication of the Long Arm of Chromosome X 12
1853 DBS003 Dibasic Amino Aciduria I 12
1854 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 12
1855 SCN063 Scn2a Related Disorders 12
1856 SYM005 Symmastia 12
1857 P IDP090 Idiopathic Eosinophilic Pneumonia 12
1858 NYS007 Nystagmus, Hereditary Vertical 12
1859 CHR203 Chromosome 16p Duplication 12
1860 MDL007 Medial Medullary Syndrome 12
1861 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 12
1862 CMP085 Camptomelic Syndrome, Long-Limb Type 12
1863 FTZ003 Fitzsimmons Syndrome 12
1864 MLT168 Multicore Disease 12
1865 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 12
1866 TRY006 Tryptophanuria with Dwarfism 12
1867 c RTN201 Retinoschisis, Autosomal Dominant 12
1868 ANG033 Angiomyomatous Hamartoma 12
1869 CHR228 Chromosome 20p Deletion 12
1870 GLM017 Glomus Tympanicum Tumor 12
1871 CTR005 Cataract and Congenital Ichthyosis 12
1872 CRB080 Cor Biloculare 12
1873 PRR018 Preauricular Sinus 12
1874 CMP031 Complement Component Deficiency 12
1875 DSM014 Desmoplastic Infantile Astrocytoma/ganglioglioma 12
1876 RHB007 Rhabdomyomatous Mesenchymal Hamartoma 12
1877 GND015 Gonadal Germ Cell Tumor 12
1878 KST002 Kuster Syndrome 12
1879 SPN082 Spina Bifida Hypospadias 12
1880 EXT061 Extracardiac Rhabdomyoma 12
1881 c SCN055 Secondary Polyarteritis Nodosa 12
1882 MDP001 Midphalangeal Hair 12
1883 CLR026 Ciliary Dyskinesia with Excessively Long Cilia 12
1884 P ISL045 Isolated Focal Cortical Dysplasia Type I 12
1885 PTT069 Pituitary Deficiency Due to Rathke Cleft Cysts 12
1886 CMP062 Complication After Organ Transplantation 12
1887 DSC010 Discrete Papular Lichen Myxedematosus 11
1888 c INF052 Infantile Scoliosis 11
1889 c MTR067 Maternal Uniparental Disomy of Chromosome 16 11
1890 PST112 Post-Traumatic Pituitary Deficiency 11
1891 PRP068 Propriospinal Myoclonus 11
1892 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 11
1893 c SYS067 Systemic Lupus Erythematosus 15 11
1894 LCT018 Lactobezoar 11
1895 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
1896 NTR048 Neutropenia, Lethal Congenital, with Eosinophilia 11
1897 TRR003 Terrien Marginal Degeneration 11
1898 GNT037 Genetic Hyperferritinemia Without Iron Overload 11
1899 ACQ072 Acquired Factor V Deficiency 11
1900 CNG092 Congenital Extrahepatic Portosystemic Shunt 11
1901 ACQ011 Acquired Agranulocytosis 11
1902 DYS176 Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome 11
1903 CNG563 Congenital Myopathy with Cores 11
1904 DST085 Distal Trisomy 2q 11
1905 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
1906 c STX006 Stxbp1-Related Encephalopathy 11
1907 UNL012 Unilateral Hemispheric Polymicrogyria 11
1908 PRT200 Partial Duplication of the Long Arm of Chromosome 2 11
1909 XLN179 X-Linked Intellectual Disability, Turner Type 11
1910 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 11
1911 CHR458 Chromosome 9 Inversion 11
1912 c CHR161 Chiari Malformation Type 3 11
1913 c IDP048 Idiopathic Posterior Uveitis 11
1914 ACR121 Acromelic Dysplasia 11
1915 c UNP004 Uniparental Disomy of Chromosome 2 11
1916 c KLP013 Klippel-Feil Syndrome 3 11
1917 TRY005 Trypanosomiasis, Human West-African 11
1918 RFR006 Refractory Cytopenia with Unilineage Dysplasia 11
1919 c PSD024 Pseudo Pelger-Huet Anomaly 11
1920 DST057 Distal Trisomy 19q 11
1921 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 11
1922 DST076 Distal Trisomy 13q 11
1923 CNG327 Congenital Epstein-Barr Virus Infection 11
1924 PLC012 Pleoconial Myopathy with Salt Craving 11
1925 c DDN013 Duodenal Ulcer Due to Antral G-Cell Hyperfunction 11
1926 ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 11
1927 CNG278 Congenital Pseudoarthrosis of the Radius 11
1928 PRT106 Partial Duplication of the Short Arm of Chromosome X 11
1929 MLL006 Mollaret Meningitis 11
1930 DPH028 Diaphragmatic Flutter 11
1931 TBC002 Tbc1d24-Related Disorders 11
1932 MSN011 Mesangioproliferative Glomerulopathy 11
1933 c PTR019 Paternal Uniparental Disomy of Chromosome 5 11
1934 INC014 Incessant Infant Ventricular Tachycardia 11
1935 CHT001 Chaotic Atrial Tachycardia 11
1936 SLF008 Self-Healing Papular Mucinosis 11
1937 HFT001 Hooft Disease 11
1938 PTT019 Pituitary Dwarfism with Large Sella Turcica 11
1939 HMR042 Humero-Ulnar Synostosis 11
1940 WHT012 White Fibrous Papulosis of the Neck 11
1941 ANN019 Anonychia-Ectrodactyly 11
1942 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 11
1943 PRT166 Partial Deletion of the Short Arm of Chromosome 10 11
1944 SCR023 Sacral Plexopathy 11
1945 MRN008 Marin-Amat Syndrome 11
1946 HYP176 Hypertelorism and Tetralogy of Fallot 11
1947 YSH001 Yusho Disease 11
1948 IRF001 Irf6-Related Disorders 10
1949 MLT158 Multiple Exostoses with Spastic Tetraparesis 10
1950 c PRM185 Primary Essential Cutis Verticis Gyrata 10
1951 LPC004 Lipoic Acid Biosynthesis Defects 10
1952 TRD004 Taurodontism, Microdontia, and Dens Invaginatus 10
1953 c SSC054 Susceptibility to Localized Juvenile Periodontitis 10
1954 DBL015 Double Outlet Right Atrium 10
1955 IDP056 Idiopathic Neonatal Atrial Flutter 10
1956 NNT045 Neonatal Autoimmune Hemolytic Anemia 10
1957 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 10
1958 MSC015 Mosaic Trisomy 13 10
1959 CNG283 Congenital Pseudoarthrosis of the Femur 10
1960 c NYS019 Nystagmus, Congenital, Autosomal Recessive 10
1961 AST008 Asternia 10
1962 c ADL083 Adult-Onset Citrullinemia Type I 10
1963 c UNP007 Uniparental Disomy of Chromosome 6 10
1964 TMR022 Tumor of Meninges 10
1965 ISL065 Isolated Congenital Alacrima 10
1966 c FGF015 Fgfr1-Related Hartsfield Syndrome 10
1967 c ZYG005 Zygodactyly Type 4 10
1968 PRT202 Partial Duplication of the Long Arm of Chromosome 6 10
1969 MCR055 Microcephaly Nonsyndromal 10
1970 NLL003 Null Pituitary Adenoma 10
1971 PRT171 Partial Deletion of the Short Arm of Chromosome 18 10
1972 c ALP037 Alopecia, Androgenetic, 3 10
1973 DBR003 Dobrow Syndrome 10
1974 CHR287 Chronic Polyradiculoneuritis 10
1975 CHN026 Chondrodysplasia Calcificans Metaphysealis 10
1976 c PTL011 Patella, Familial Recurrent Dislocation of 10
1977 TBF001 Tibio-Fibular Synostosis 10
1978 CLR128 Ciliary Discoordination Due to Random Ciliary Orientation 10
1979 XLN147 X-Linked Intellectual Disability, Stoll Type 10
1980 ALP098 Alpha-2-Deficient Collagen Disease 10
1981 ARW003 Airway-Centered Interstitial Fibrosis 10
1982 DVR003 Devriendt Syndrome 10
1983 AHM001 Ahumada Del Castillo Syndrome 10
1984 PRM302 Paramedian Facial Cleft 10
1985 c CRY033 Cryofibrinogenemia, Familial Primary 10
1986 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
1987 DST078 Distal Trisomy 6q 10
1988 AMN016 Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 10
1989 BTH003 Bothriocephalosis 10
1990 TRG018 Trigonocephaly-Broad Thumbs Syndrome 10
1991 SYN027 Syngnathia Cleft Palate 10
1992 MXL013 Maxillary Arteriovenous Malformation 10
1993 DST084 Distal Trisomy 8q 10
1994 TNK001 Tonoki Syndrome 10
1995 SPR028 Spirochetes Disease 10
1996 ACQ074 Acquired Factor Xi Deficiency 10
1997 HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 10
1998 c ACQ056 Acquired Ataxia 10
1999 c INT491 Intellectual Developmental Disorder, X-Linked 42 10
2000 c PRT182 Partial Monosomy of the Long Arm of Chromosome 9 10
2001 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
2002 NNS059 Non-Syndromic Limb Reduction Defect 10
2003 MGL007 Megalocytic Interstitial Nephritis 10
2004 SNS012 Sinus Node Disease and Myopia 10
2005 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
2006 RNP002 Renoprival Hypertension 10
2007 HMP015 Hemophagocytic Reticulosis 10
2008 CNS021 Constitutional Neutropenia 10
2009 RDT016 Radiation-Induced Plexopathy 10
2010 PRT231 Partial Duplication of Chromosome 4 10
2011 c BRC035 Brachydactyly Type A5 10
2012 MCR090 Microspherophakia with Hernia 10
2013 PRT167 Partial Deletion of the Short Arm of Chromosome 9 10
2014 NYS008 Nystagmus, Myoclonic 10
2015 c QLT007 Qualitative or Quantitative Defects of Delta-Sarcoglycan 10
2016 GN1001 Gnao1 Encephalopathy 10
2017 PRT179 Partial Deletion of the Long Arm of Chromosome 6 10
2018 CTR030 Citrulline Transport Defect 10
2019 PRT249 Partial Autosomal Monosomy 10
2020 TRS009 Trisomy 12 Mosaicism 10
2021 PRT236 Partial Deletion of the Long Arm of Chromosome 15 10
2022 BRN050 Branchial Arch Defects 9
2023 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 9
2024 c MYL070 Myeloproliferative Disease, Autosomal Recessive 9
2025 ACH016 Achard Thiers Syndrome 9
2026 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 9
2027 SRP007 Serpinopathy 9
2028 MTC024 Mitochondrial Genetic Disorders 9
2029 c ACQ029 Acquired Porencephaly 9
2030 c CNG266 Congenital Secondary Polycythemia 9
2031 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 9
2032 PRT195 Partial Duplication of the Long Arm of Chromosome 8 9
2033 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
2034 DST088 Distal Trisomy 1p36 9
2035 c NCL011 Nuclear Gene-Encoded Leigh Syndrome Spectrum 9
2036 DFF017 Diffuse Cavernous Hemangioma of the Rectum 9
2037 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 9
2038 c PRM287 Primary Adult Heart Tumor 9
2039 XNT007 Xanthogranulomatous Sialadenitis 9
2040 GLC038 Glucose-6-Phosphate Translocase Deficiency 9
2041 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 9
2042 MSM006 Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 9
2043 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
2044 GRN018 Granulomas, Congenital Cerebral 9
2045 BRS103 Bier Spots 9
2046 HND013 Handl Syndrome 9
2047 c RRD039 Rare Dystonia 9
2048 XLN212 X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome 9
2049 MRV001 Morvan's Fibrillary Chorea 9
2050 DST087 Distal Trisomy 7p 9
2051 PRT238 Partial Deletion of the Long Arm of Chromosome 17 9
2052 PRT241 Partial Deletion of the Long Arm of Chromosome 20 9
2053 PRT225 Partial Duplication of Chromosome 17 9
2054 TRN049 Transient Tyrosinemia of the Newborn 9
2055 CQR001 Coq-Responsive Oxphos Deficiency 9
2056 PLY165 Polyosteolysis-Hyperostosis Syndrome 9
2057 c JVN030 Juvenile Overlap Myositis 9
2058 CYT006 Cytoplasmic Body Myopathy 9
2059 ACT096 Acute Cholinergic Dysautonomia 9
2060 ART161 Aortic Malformation 9
2061 c ACT189 Acute Neonatal Citrullinemia Type I 9
2062 BNG090 Benign Nocturnal Alternating Hemiplegia of Childhood 9
2063 ZSK001 Zuska's Disease 9
2064 c ATS437 Autosomal Dominant Spastic Ataxia 9
2065 HRD225 Hereditary Angioedema with Normal C1inh Not Related to F12 or Plg Variant 9
2066 P RCR003 Recurrent Peripheral Facial Palsy 9
2067 P MCR048 Microcephaly Chorioretinopathy Recessive Form 9
2068 GNT126 Genetic Hypoparathyroidism 9
2069 RFS002 Refsum Disease with Increased Pipecolic Acidemia 9
2070 FND005 Fundus Pulverulentus 9
2071 CNG255 Congenital Temporomandibular Joint Ankylosis 9
2072 MTH081 Mthfr Gene Variant 9
2073 LPD038 Lipedematous Scalp 9
2074 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
2075 c LCT020 Lactic Acidosis, Chronic Adult Form 9
2076 PRT235 Partial Deletion of the Long Arm of Chromosome 14 9
2077 FGF013 Fgfr3-Related Chondrodysplasia 9
2078 MSC013 Mosaic Monosomy 18 9
2079 PRT226 Partial Duplication of Chromosome 16 9
2080 PPL055 Pupil, Egg-Shaped 9
2081 c PSD023 Pseudo-Gaucher Disease 9
2082 c CNG628 Congenital Disorder of Glycosylation Iw 9
2083 RDT003 Radiation Induced Angiosarcoma of the Breast 9
2084 MYC091 Mycosis Fungoides and Variants 9
2085 BTZ001 Baetz-Greenwalt Syndrome 9
2086 c MTR065 Maternal Uniparental Disomy of Chromosome 21 9
2087 CDC005 Cad-Cdg 9
2088 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 9
2089 LKN006 Leukoencephalopathy, Cerebral Calcifications, and Cysts 9
2090 PRT239 Partial Deletion of the Long Arm of Chromosome 18 9
2091 c UNP003 Uniparental Disomy of Chromosome 11 8
2092 c PRM317 Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan 8
2093 PRT146 Partial Deletion of Chromosome 8 8
2094 ADN079 Adenosine Triphosphatase Deficiency, Anemia Due to 8
2095 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 8
2096 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 8
2097 PRT197 Partial Duplication of the Long Arm of Chromosome 15 8
2098 PRT217 Partial Duplication of the Short Arm of Chromosome 4 8
2099 PRT242 Partial Deletion of the Long Arm of Chromosome 21 8
2100 PHK009 Phakomatosis Cesiomarmorata 8
2101 c CNG110 Congenital Mumps 8
2102 c ATS471 Autosomal Dominant Complex Spastic Paraplegia 8
2103 HRP010 Herpes Virus Antenatal Infection 8
2104 ACT171 Acute Opioid Poisoning 8
2105 PRM249 Primary Condylar Hyperplasia 8
2106 2MT002 2-Methylacetoacetyl Coa Thiolase Deficiency 8
2107 BRN058 Brunsting-Perry Syndrome 8
2108 NND013 Non-Dystrophic Myopathy 8
2109 c ACQ035 Acquired Angioedema Type 1 8
2110 IDP014 Idiopathic Alveolar Hypoventilation Syndrome 8
2111 CHL154 Childhood-Onset Epilepsy Syndrome 8
2112 PST076 Postcardiotomy Right Ventricular Failure 8
2113 CHR259 Chromosome 6q25 Microdeletion Syndrome 8
2114 APD001 Apo a-I Deficiency 8
2115 SCL040 Scleromyxedema Without Monoclonal Gammopathy 8
2116 INF115 Infectious Epithelial Keratitis 8
2117 PRC025 Precocious Puberty, Gonadotropin-Dependent 8
2118 GNT022 Giant Mammary Hamartoma 8
2119 PRT149 Partial Deletion of Chromosome 7 8
2120 GNT152 Genetic Hyperaldosteronism 8
2121 PRT199 Partial Duplication of the Long Arm of Chromosome 13 8
2122 c SCN080 Secondary Avascular Necrosis 8
2123 PRT234 Partial Duplication of Chromosome 7 8
2124 SLB001 Saal Bulas Syndrome 8
2125 INC032 Inclusion Myopathy 8
2126 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 8
2127 ISL053 Isolated Asymptomatic Elevation of Creatine Phosphokinase 8
2128 EMR002 Emerinopathy 8
2129 PRM286 Primary Pediatric Heart Tumor 8
2130 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 8
2131 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 8
2132 TRS013 Trisomy 3 Mosaicism 8
2133 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
2134 DWR022 Dwarfism, Proportionate, with Hip Dislocation 8
2135 P TTL001 Total Internal Ophthalmoplegia 8
2136 PRT223 Partial Duplication of Chromosome 11 8
2137 NLD003 Nail Dysplasia, Isolated Congenital 8
2138 EXT055 Extragonadal Germinoma 8
2139 c PRM322 Primary Myoclonus 8
2140 ESN021 Eosinophilic Mastitis 8
2141 PRT219 Partial Duplication of the Short Arm of Chromosome 6 8
2142 c PRT194 Partial Trisomy of the Long Arm of Chromosome 9 8
2143 PRT192 Partial Duplication of the Long Arm of Chromosome 22 8
2144 12Q001 12q15q21.1 Microdeletion Syndrome 8
2145 HM3001 Hemi 3 Syndrome 8
2146 PRT150 Partial Deletion of the Long Arm of Chromosome 12 8
2147 c PRM325 Primary Avascular Necrosis 8
2148 RGN006 Regional Variant of Guillain-Barre Syndrome 8
2149 PRT176 Partial Deletion of the Long Arm of Chromosome 3 8
2150 GNR048 Generalized Isolated Dystonia 8
2151 EXT051 Extracranial Arteriovenous Malformation 8
2152 DWR002 Dauwerse-Peters Syndrome 8
2153 CRB075 Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease 8
2154 DSR057 Disorder of Glycolysis 8
2155 c ATS463 Autosomal Dominant Cerebellar Ataxia Type Iv 8
2156 CLS033 Clostridium Sordellii Infection 8
2157 UNV005 Universal Acquired Melanosis 7
2158 CMM016 Commissural Lip Fistula 7
2159 c ACT272 Acute Myeloid Leukemia with T(1;22)(p13;q13) 7
2160 CNG117 Congenital Nonhemolytic Jaundice 7
2161 c ATS439 Autosomal Ichthyosis Syndrome 7
2162 P PRX076 Peroxisomal Beta-Oxidation Disorder 7
2163 BNG083 Benign Focal Seizures of Adolescence 7
2164 SBC040 Subcutaneous Tissue Disease 7
2165 IDN004 Iodine Antenatal Exposure 7
2166 7Q3001 7q31 Microdeletion Syndrome 7
2167 CL4010 Col4a1 or Col4a2-Related Cerebral Small Vessel Disease 7
2168 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 7
2169 ISL149 Isolated Nail Anomaly 7
2170 NND009 Non-Distal Trisomy 9q 7
2171 MSC018 Mosaic Trisomy 6 7
2172 NNS055 Non-Syndromic Preaxial Polydactyly 7
2173 NNH012 Non-Hereditary Degenerative Ataxia 7
2174 TBL020 Tubular Duplication of the Esophagus 7
2175 IDP088 Idiopathic Isolated Micropenis 7
2176 STT009 Sutton Disease 2 7
2177 TRS022 Torsade De Pointes, Short-Coupled Variant 7
2178 MHT001 Mehta Lewis Patton Syndrome 7
2179 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
2180 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
2181 CRB183 Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers 7
2182 PLT011 Pilotto Syndrome 7
2183 HYP850 Hypoglossia/aglossia 7
2184 BDH001 Boudhina Yedes Khiari Syndrome 7
2185 DYS208 Dysostosis with Brachydactyly 7
2186 CMP026 Camptodactyly-Ichthyosis Syndrome 7
2187 4Q2002 4q25 Proximal Deletion Syndrome 7
2188 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 7
2189 c PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
2190 CNG610 Congenital Hypoplasia of Thumb 7
2191 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 7
2192 ECT057 Ectasia of the Right Atrial Appendage 7
2193 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
2194 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 7
2195 CRB063 Cerebello-Olivary Atrophy 7
2196 GNT108 Genetic Infertility 7
2197 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
2198 CTR011 Cataract Hutterite Type 7
2199 PRT168 Partial Deletion of the Short Arm of Chromosome 16 7
2200 c PTR022 Paternal Uniparental Disomy of Chromosome 7 7
2201 c MTR079 Maternal Uniparental Disomy of Chromosome 13 7
2202 c ATS153 Autosomal Recessive Pure Spastic Paraplegia 7
2203 SCK006 Sackey Sakati Aur Syndrome 7
2204 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 7
2205 GNR045 Generalized Lipodystrophy-Associated Progeroid Syndrome 7
2206 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 7
2207 c LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 7
2208 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 7
2209 HYP196 Hypodontia, X-Linked 7
2210 WND003 Windblown Hand 7
2211 PRT147 Partial Deletion of Chromosome 9 7
2212 c SPS040 Spastic Paraplegia 5b 7
2213 PRT216 Partial Trisomy of Chromosome 20 7
2214 PRT213 Partial Duplication of Chromosome 19 7
2215 PRT222 Partial Duplication of Chromosome 8 7
2216 JRG001 Jorgenson Lenz Syndrome 7
2217 PRT201 Partial Duplication of the Long Arm of Chromosome 3 7
2218 ALZ038 Alezzandrini Syndrome 7
2219 DNS002 Dens in Dente and Palatal Invaginations 7
2220 WSC001 Wisconsin Syndrome 7
2221 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
2222 c FRN055 Furuncular Myiasis Due to Cordylobia Rodhaini 7
2223 c CRB078 Cerebrocostomandibular-Like Syndrome 7
2224 SMD014 Samd9l-Associated Autoinflammatory Syndrome 7
2225 BYL003 Baylisascaris Infection 7
2226 DPR003 Diprosopia 7
2227 GNT078 Genetic Multiple Congenital Anomalies/dysmorphic Syndrome 6
2228 P DSR041 Disorder of Multiple Glycosylation 6
2229 MCP019 Mcpherson Robertson Cammarano Syndrome 6
2230 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 6
2231 c SCN009 Scn1a-Related Seizure Disorders 6
2232 ZDK001 Zadik Barak Levin Syndrome 6
2233 AMN008 Aminolevulinate Dehydratase Deficiency Porphyria 6
2234 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 6
2235 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
2236 P PRM298 Primary Peritoneal Tumor 6
2237 PRT191 Partial Duplication of the Long Arm of Chromosome 17 6
2238 SCN081 Secondary Neonatal Autoimmune Disease 6
2239 MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 6
2240 c JVN062 Juvenile-Onset Steinert Myotonic Dystrophy 6
2241 PRT189 Partial Duplication of the Long Arm of Chromosome 19 6
2242 LNG103 Lin-Gettig Syndrome 6
2243 PRM370 Primary Acquired Red Cell Aplasia 6
2244 QLT016 Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan 6
2245 SMS002 Samson Viljoen Syndrome 6
2246 CHR230 Chromosome 20q Deletion 6
2247 CLR028 Ciliary Dyskinesia-Bronchiectasis 6
2248 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
2249 ENC009 Encephalocele Anencephaly 6
2250 LWR011 Lower Lip Fistula 6
2251 ERY018 Erythema Nodosum, Idiopathic 6
2252 HLL007 Halal Syndrome 6
2253 ALG007 Al-Gazali-Donnai-Mueller Syndrome 6
2254 BSD002 Basedow's Coma 6
2255 GYF001 Gay Feinmesser Cohen Syndrome 6
2256 SLT006 Slti Salem Syndrome 6
2257 BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 6
2258 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
2259 SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 6
2260 PHP001 Phip-Related Disorder 6
2261 CHN051 Choanal Atresia, Unilateral 6
2262 FCL034 Facial Dermoid Cyst 6
2263 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
2264 FCL071 Facial Diplegia with Paresthesias 6
2265 ALP024 Alopecia Universalis Onychodystrophy Vitiligo 6
2266 CHR271 Chromosome 9q Deletion 6
2267 ISL044 Isolated Arhinencephaly 6
2268 DMN008 Dominant Cleft Palate 6
2269 c PLY005 Polycythemia Due to Hypoxia 6
2270 c TTL014 Total Autosomal Monosomy 6
2271 c MRN006 Marinesco-Sjogren-Like Syndrome 6
2272 F12001 F12-Associated Cold Autoinflammatory Syndrome 6
2273 CRT035 Cretinism Athyreotic 6
2274 SMS001 Samson Gardner Syndrome 6
2275 PRT157 Partial Deletion of Chromosome 19 6
2276 PRT248 Partial Autosomal Trisomy/tetrasomy 6
2277 C12001 C12orf65-Related Combined Oxidative Phosphorylation Defect 6
2278 ARR003 Arroyo Garcia Cimadevilla Syndrome 6
2279 GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 6
2280 BNG097 Benign Metanephric Tumor 6
2281 ANN003 Anencephaly and Spina Bifida X-Linked 6
2282 MSS003 Massa Casaer Ceulemans Syndrome 6
2283 ACR117 Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 6
2284 GNT077 Genetic Congenital Limb Malformation 6
2285 SYN101 Syndromic Hypothyroidism 6
2286 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 6
2287 CMP032 Complement Component Receptor 1 6
2288 c BNG038 Benign Autosomal Dominant Myopathy 6
2289 PFF003 Pfeiffer Mayer Syndrome 6
2290 DST011 Distal Chromosome 18q Deletion Syndrome 6
2291 MTC180 Mitochondrial Dna-Related Dystonia 6
2292 c MTC189 Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna 6
2293 TRM028 Terminal Transverse Limb Defect 6
2294 PRT252 Partial Atrioventricular Septal Defect with Ventricular Hypoplasia 6
2295 LVT002 Levotransposition of the Great Arteries 5
2296 CRN072 Coronaro-Cardiac Fistula 5
2297 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
2298 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
2299 c RRH011 Rare Hyperparathyroidism 5
2300 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
2301 SYS008 Systemic Necrotizing Angitis 5
2302 P GNT133 Genetic Disorder of Sex Development 5
2303 MDL010 Midline Cleft of Lower Lip 5
2304 SCH034 Schwartz Cohen-Addad Lambert Syndrome 5
2305 EPT030 Epithelial Tumor of the Appendix 5
2306 ACT215 Actg2-Related Disorders 5
2307 c PRM303 Primary Early-Onset Glaucoma 5
2308 ERL027 Early-Onset Non-Syndromic Cataract 5
2309 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 5
2310 c SCN083 Secondary Early-Onset Glaucoma 5
2311 MLF009 Malformation of the Cerebellar Vermis 5
2312 QLT003 Qualitative or Quantitative Defects of Collagen 6 5
2313 NNS148 Non-Syndromic Unisutural Craniosynostosis 5
2314 ATS245 Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency 5
2315 c CHR162 Chiari Malformation Type 4 5
2316 TLL002 Tollner Horst Manzke Syndrome 5
2317 PRT227 Partial Deletion of the Long Arm of Chromosome 22 5
2318 GNT142 Genetic Progeroid Syndrome 5
2319 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
2320 HYP627 Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections 5
2321 CHR184 Chromosome 10q Duplication 5
2322 STR075 Straddling or Overriding Tricuspid Valve 5
2323 ISL117 Isolated Congenital Radial Head Dislocation 5
2324 ANM023 Anomaly of the Tricuspid Subvalvular Apparatus 5
2325 SYN152 Syndromic Keratoconus 5
2326 DSR077 Disorder of the Gamma-Glutamyl Cycle 5
2327 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
2328 ABN010 Abnormal Number of Coronary Ostia 5
2329 ACT172 Acute Tricyclic Antidepressant Poisoning 5
2330 c PRM318 Primary Short Bowel Syndrome 5
2331 PRT243 Partial Duplication of the Short Arm of Chromosome 1 5
2332 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 5
2333 CNG317 Congenital Genu Flexum 5
2334 KDM002 Kdm3b-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome 5
2335 c TRS028 Torsion Dystonia 17 5
2336 NNS049 Non-Syndromic Uterovaginal Malformation 5
2337 FLV003 Flavimonas Oryzihabitans Infection 5
2338 BRC022 Brachydactyly Anonychia 5
2339 c CTR008 Cataract Congenital Autosomal Dominant 5
2340 FRX003 Fraxf Syndrome 5
2341 GNT177 Genetic Cardiac Rhythm Disease 5
2342 LTH049 Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 5
2343 DNS011 Dense Granule Disease 5
2344 MXD048 Mixed Functioning Pituitary Adenoma 5
2345 BKR001 Baker Vinters Syndrome 5
2346 KZL001 Kozlowski Brown Hardwick Syndrome 5
2347 CHR221 Chromosome 1p Duplication 5
2348 HYP184 Hypertrophic Branchial Myopathy 5
2349 KRB003 Krieble Bixler Syndrome 5
2350 SYN156 Syndrome with Limb Malformations As a Major Feature 5
2351 CRN071 Coronal Synostosis, Syndactyly and Jejunal Atresia 5
2352 JFF001 Jaffer Beighton Syndrome 5
2353 SPR029 Spirurida Infections 5
2354 HTW001 Hot Water Reflex Epilepsy 5
2355 ATS435 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency 5
2356 SYN100 Syndromic Uterovaginal Malformation 5
2357 ATS434 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency 5
2358 UNX005 Unexplained Periodic Fever Syndrome 5
2359 P YCH005 Y Chromosome Number Anomaly 5
2360 ATS436 Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency 5
2361 SYS058 Systemic Monochloroacetate Poisoning 5
2362 HMZ005 Homozygous 2p21 Microdeletion Syndrome 5
2363 OCL028 Oculo Digital Syndrome 5
2364 GNT164 Genetic Cardiac Malformation 5
2365 SYN097 Syndromic Urogenital Tract Malformation 5
2366 MDL029 Medullar Disease 5
2367 NNS062 Non-Syndromic Limb Malformation 5
2368 PDD001 Podder-Tolmie Syndrome 5
2369 GLC108 Gluconeogenesis Disorder 5
2370 MDN007 Median Cleft Lip/mandibule 5
2371 c XCH002 X Chromosome Number Anomaly 5
2372 PRT247 Partial Duplication of the Short Arm of Chromosome 19 5
2373 PRD032 Periodic Paralysis with Transient Compartment-Like Syndrome 5
2374 MSC014 Mosaic Monosomy 22 5
2375 c SYS074 Systemic Diseases with Anterior Uveitis 5
2376 CHR206 Chromosome 16q Deletion 5
2377 GNT014 Genetic Reflex Epilepsy 5
2378 c LCT010 Lactic Acidosis Congenital Infantile 5
2379 HMR036 Humero-Ulnar Synostosis, Unilateral 5
2380 GLB027 Global Cerebellar Malformation 5
2381 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 5
2382 c CXV001 Coxa Vara, Congenital 5
2383 AGL001 Aglossia and Situs Inversus 5
2384 CHR245 Chromosome 3q Deletion 5
2385 NNS136 Non-Syndromic Bicoronal and Sagittal Craniosynostosis 5
2386 MNN041 Mannose-Binding Lectin Protein Deficiency 5
2387 BNG080 Benign Childhood Occipital Epilepsy, Gastaut Type 5
2388 NNS137 Non-Syndromic Pansynostosis 5
2389 NNS141 Non-Syndromic Unicoronal and Sagittal Craniosynostosis 5
2390 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
2391 ISL126 Isolated Iridoschisis 5
2392 PNC057 Poncet-Spiegler's Cylindroma 5
2393 HMR037 Humero-Ulnar Synostosis, Bilateral 5
2394 c GLC035 Glaucoma, Primary Infantile Type 3a 5
2395 c GLC029 Glaucoma Type 1c 5
2396 TRS008 Trisomy 11 Mosaicism 5
2397 ISL127 Isolated Blepharochalasis 5
2398 OVR117 Overgrowth Syndrome with 2q37 Translocation 5
2399 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
2400 SYN144 Syndromic Outer Canthal Malposition 5
2401 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 5
2402 c TTL013 Total Autosomal Trisomy 5
2403 CRN313 Corneodysgenesis 5
2404 HRP036 Herpesvirus Simiae B Virus Infection 5
2405 c OCL037 Oculodentodigital Dysplasia Dominant 5
2406 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 5
2407 c FRG005 Fragile X Syndrome Type 2 4
2408 c FRG004 Fragile X Syndrome Type 1 4
2409 P RRN005 Rare Insulin-Resistance Syndrome 4
2410 EPS046 Epstein-Barr Virus-Related Tumor 4
2411 c FRG006 Fragile X Syndrome Type 3 4
2412 FRX001 Fraxd 4
2413 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 4
2414 c DPL004 D-Plus Hemolytic Uremic Syndrome 4
2415 CLS021 Closed Iniencephaly 4
2416 DSR038 Disorder of Catecholamine Synthesis 4
2417 CNG060 Congenital Articular Rigidity 4
2418 ELZ001 Elizabethkingia Anophelis Infection 4
2419 OPN003 Open Iniencephaly 4
2420 DSR059 Disorder of Carnitine Cycle and Carnitine Transport 4
2421 c SCN004 Secondary Vitreoretinal Degeneration 4
2422 STT042 Stt3a-Cdg and Stt3b-Cdg 4
2423 NNS108 Non-Syndromic Anorectal Malformation with Rectourethral Fistula 4
2424 c DSR009 Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation 4
2425 CNT052 Cantalamessa Baldini Ambrosi Syndrome 4
2426 ARN001 Arena Syndrome 4
2427 IMP008 Imperforate Oropharynx-Costo Vetebral Anomalies 4
2428 RHB006 Rhabditida Infections 4
2429 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
2430 ACQ032 Acquired Kinky Hair Syndrome 4
2431 PHS011 Phosphomannoisomerase Deficiency 4
2432 KZL004 Kozlowski Rafinski Klicharska Syndrome 4
2433 DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 4
2434 ASM001 Ausems Wittebol-Post Hennekam Syndrome 4
2435 UNC023 Unclassified Autoinflammatory Syndrome 4
2436 LND002 Landy-Donnai Syndrome 4
2437 CMP033 Complement Receptor Deficiency 4
2438 PDT047 Pediatric-Onset Glaucoma 4
2439 GNT129 Genetic Dermis Elastic Tissue Disorder 4
2440 ARB006 Arbovirus Fever 4
2441 OLG023 Oligoastrocytic Tumor 4
2442 CHR171 Choroideremia Hypopituitarism 4
2443 HYP504 Hypothalamic Hamartomas with Gelastic Seizures 4
2444 PCR001 Pauciarticular Chronic Arthritis 4
2445 PRD046 Periodic Fever Syndrome of Childhood 4
2446 HYP194 Hypodermyasis 4
2447 CNS010 Constitutional Dyserythropoietic Anemia 4
2448 DSR061 Disorder of Keton Body Transport 4
2449 IDP050 Idiopathic Linear Interstitial Keratitis 4
2450 PRN060 Paraneoplastic Uveitis 4
2451 GNT163 Genetic Alopecia 4
2452 ALP080 Alpha-Crystallinopathy 4
2453 SYN128 Syndromic Macular Dystrophy 4
2454 ATS313 Autism-Facial Port-Wine Stain Syndrome 4
2455 SYN162 Syndromic Esophageal Malformation 4
2456 PNL022 Pineal Parenchymal Tumor of Intermediate Differenciation 4
2457 SYN154 Syndromic Disorder with Strabismus 4
2458 c SYS076 Systemic Diseases with Posterior Uveitis 4
2459 CRC010 Circumscribed Cutaneous Aplasia of the Vertex 4
2460 FRN026 Frontonasal Dysplasia Phocomelic Upper Limbs 4
2461 CHR255 Chromosome 6p Deletion 4
2462 2HY002 2-Hydroxyethyl Methacrylate Sensitization 4
2463 SPN142 Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 4
2464 NNS111 Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Bulbar Type 4
2465 CNS019 Constitutional Sideroblastic Anemia 4
2466 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
2467 OTH025 Other Syndrome with Lissencephaly As a Major Feature 4
2468 UNL009 Unilateral Congenital Megacalycosis 4
2469 MCG001 Mcgillivray Syndrome 4
2470 AKS001 Akesson Syndrome 4
2471 RDL007 Radial Defect Robin Sequence 4
2472 SYM029 Symptomatic Form of X-Linked Centronuclear Myopathy in Female Carriers 4
2473 MCR377 Microblepharon-Ablephara Syndrome 4
2474 PSD025 Pseudoachondroplastic Dysplasia 2 4
2475 DPH030 Diaphragmatic or Abdominal Wall Malformation 4
2476 CNG269 Congenital Primary Megaureter, Refluxing Form 4
2477 GNT166 Genetic Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 4
2478 P 46X065 46,xy Disorder of Gonadal Development 4
2479 CNG331 Congenital Bilateral Megacalycosis 4
2480 NNS109 Non-Syndromic Anorectal Malformation with Perineal Fistula 4
2481 c INF176 Infectious Disease with Epilepsy 4
2482 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
2483 VRN003 Vernal Keratitis 4
2484 HRP008 Herpes Simiae 4
2485 c CRN093 Craniosynostosis Autosomal Dominant 4
2486 MXD049 Mixed Dermis Disorder 4
2487 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
2488 c ATS473 Autosomal Recessive Whistling Face Syndrome 4
2489 MYK001 Myokymia with Neonatal Epilepsy 4
2490 HRD055 Hereditary Nodular Heterotopia 4
2491 FRN019 Frints De Smet Fabry Fryns Syndrome 4
2492 CNG568 Congenital Disorder of Glycosylation with Epilepsy As a Major Feature 4
2493 CHR272 Chromosome 9q Duplication 4
2494 ILL006 Ileal Pouch Anal Anastomosis Related Faecal Incontinence 4
2495 KNR001 Koone Rizzo Elias Syndrome 4
2496 ACR042 Acromesomelic Dysplasia Campailla Martinelli Type 4
2497 SND003 Sanderson Fraser Syndrome 4
2498 PYG009 Pyogenic Autoinflammatory Syndrome 4
2499 5NC001 5-Nucleotidase Syndrome 4
2500 NNS053 Non Syndromic Limb Overgrowth 4
2501 MCT004 Micturation-Induced Seizures 4
2502 AKB001 Akaba Hayasaka Syndrome 4
2503 KLL002 Kallikrein Hypertension 4
2504 SYS078 Systemic Disease with Glomerulopathy As a Major Feature 4
2505 GNT068 Genetic Glomerular Disease 4
2506 SCR026 Secernentea Infections 4
2507 HYP178 Hyperthermia Induced Defects 4
2508 PRM328 Primary Orthostatic Disorder 4
2509 ORM003 Oromandibular-Limb Anomalies Syndrome 4
2510 GRN058 Granulomatous Autoinflammatory Syndrome 4
2511 ACQ063 Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue 4
2512 DSR053 Disorder of Fatty Acid Oxidation and Ketogenesis 4
2513 PRR043 Pure or Complex X-Linked Spastic Paraplegia 4
2514 GNT169 Genetic Corneal Dystrophy 4
2515 LMR002 Le Marec Bracq Picaud Syndrome 4
2516 SYN138 Syndromic Hair Shaft Abnormality 4
2517 KLH008 Klhl7-Related Disorder 4
2518 c SYN028 Syngnathia Multiple Anomalies 4
2519 CNG594 Congenital Thyroid Malformation Without Hypothyroidism 4
2520 RMM001 Rommen Mueller Sybert Syndrome 4
2521 OTM003 Otomandibular Dysplasia Associated with Monogenic Syndromes 4
2522 SXC005 Sex-Chromosome Number Anomaly 4
2523 P GNT114 Genetic Cardiac Anomaly 4
2524 P NCL007 Nuclear Gene-Encoded Leigh Syndrome 4
2525 CNG316 Congenital Vertical Talus, Bilateral 4
2526 VRT005 Vertebral Body Fusion Overgrowth 4
2527 SYN125 Syndromic Vitreoretinopathy 4
2528 GNT130 Genetic Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability 4
2529 SYN161 Syndromic Visceral Malformation 4
2530 PFF006 Pfeiffer Tietze Welte Syndrome 4
2531 INH028 Inherited Non-Syndromic Ichthyosis 4
2532 MCR187 Macrodactyly of Fingers, Bilateral 4
2533 EPL256 Epilepsy and/or Ataxia with Myoclonus As a Major Feature 4
2534 SYN159 Syndromic Diaphragmatic or Abdominal Wall Malformation 4
2535 4HY001 4-Hydroxyphenylacetic Aciduria 3
2536 c CHR251 Chromosome 5, Uniparental Disomy 3
2537 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
2538 10Q003 10q22.3q23 Microdeletion Syndrome 3
2539 HLC002 Holoacardius Amorphus 3
2540 MLF004 Malformation Syndrome with Odontal and/or Periodontal Component 3
2541 c CHR201 Chromosome 16, Uniparental Disomy 3
2542 PRT104 Protein S Acquired Deficiency 3
2543 GNT090 Genetic Dermis Disorder 3
2544 GNT070 Genetic Malformation Syndrome with Short Stature 3
2545 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
2546 ATN018 Autoinflammatory Syndrome of Childhood 3
2547 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 3
2548 MTC186 Mitochondrial Protein Import Disorder 3
2549 ECT112 Ectrodactyly with and Without Other Manifestations 3
2550 MSM021 Mesomelic and Rhizo-Mesomelic Dysplasia 3
2551 SYN142 Syndrome with Synostosis or Other Joint Formation Defect 3
2552 MLT176 Multiple Polyglandular Tumor 3
2553 c FXG003 Foxg1 Syndrome Due to Intragenic Alteration 3
2554 c HYD017 Hydrocephalus Autosomal Recessive 3
2555 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 3
2556 MCR075 Microphthalmia Associated with Colobomatous Cyst 3
2557 AML010 Amelogenesis Imperfecta Pigmented Hypomaturation Type 3
2558 OVR067 Ouvrier Billson Syndrome 3
2559 CRT030 Cortes Lacassie Syndrome 3
2560 AND005 Androgen Insensitivity Syndrome, Mild 3
2561 ABD006 Abdominal Chemodectomas with Cutaneous Angiolipomas 3
2562 DKR001 Duker Weiss Siber Syndrome 3
2563 CRN053 Carnevale Hernandez Castillo Syndrome 3
2564 GNT075 Genetic Cranial Malformation 3
2565 CHR217 Chromosome 19q Deletion 3
2566 CMP023 Camptodactyly Vertebral Fusion 3
2567 GRN053 Grin2b Related Syndrome 3
2568 CRT027 Cartwright Nelson Fryns Syndrome 3
2569 CTL002 Cutler Bass Romshe Syndrome 3
2570 CNJ015 Conjunctivitis with Pseudomembrane 3
2571 CHN032 Chondrodysplasia Punctata, Humero-Metacarpal Type 3
2572 GNT183 Genetic Systemic Disease with Glomerulopathy As a Major Feature 3
2573 CFF004 Coffin Syndrome 1 3
2574 PFF005 Pfeiffer Rockelein Syndrome 3
2575 ATS443 Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities 3
2576 RCH008 Richieri-Costa Guion-Almeida Cohen Syndrome 3
2577 DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3
2578 SGM003 Segmentation Syndrome 1 3
2579 SWN002 Seow Najjar Syndrome 3
2580 NNP020 Non Progressive Epilepsy and/or Ataxia with Myoclonus As a Major Feature 3
2581 CNG054 Congenital Aneurysms of the Great Vessels 3
2582 FNG007 Feingold Trainer Syndrome 3
2583 DSR087 Disorder with Multisystemic Involvement and Glomerulopathy 3
2584 HML017 Hemolytic Uremic Syndrome, Atypical, Childhood 3
2585 HYP222 Hypoplasia of the Tibia with Polydactyly 3
2586 MNC012 Minicore Myopathy, Antenatal Onset, with Arthrogryposis 3
2587 DSR028 Disorder of Magnesium Transport 3
2588 HST023 Histiocytic and Dendritic Cell Tumor 3
2589 GLL023 Gollop Coates Syndrome 3
2590 PRS060 Prostatic Malacoplakia Associated with Prostatic Abscess 3
2591 CRN312 Craniofacial Anomaly with Cataract 3
2592 ZZM001 Zazam Sheriff Phillips Syndrome 3
2593 c GNT135 Genetic 46,xy Disorder of Sex Development 3
2594 MTC187 Mitochondrial Oxidative Phosphorylation Disorder with No Known Mechanism 3
2595 DSR043 Disorder of O-Xylosylglycan Synthesis 3
2596 NNS098 Non-Syndromic Anorectal Malformation with Rectovaginal Fistula 3
2597 HYG001 Hygroma Cervical 3
2598 ZRR001 Zerres Rietschel Majewski Syndrome 3
2599 ISL152 Isolated Congenital Hypoglossia 3
2600 PRM055 Primary Tubular Proximal Acidosis 3
2601 GNT149 Genetic Syndrome with Limb Malformations As a Major Feature 3
2602 QLT035 Qualitative or Quantitative Defects of Alpha-Actin 3
2603 DNT052 Dentocutaneous Disease with Cataract 3
2604 GNT055 Genetic Susceptibility to Infections Due to Particular Pathogens 3
2605 KZL003 Kozlowski Ouvrier Syndrome 3
2606 EXC006 Excess Breast Volume or Number 3
2607 c HMN045 Human Herpesvirus 8-Related Disorder 3
2608 PRR037 Pierre Robin Syndrome Associated with a Chromosomal Anomaly 3
2609 LTR016 Letrozole Toxicity 3
2610 AMN004 Aminoacylase Deficiency 3
2611 PRR039 Pierre Robin Syndrome Associated with Branchial Archs Anomalies 3
2612 SYN115 Syndromic Agammaglobulinemia 3
2613 OTH022 Other Dermis Disorder 3
2614 CNG561 Congenital Vitamin K-Dependent Coagulation Factors Deficiency 3
2615 QLT020 Qualitative or Quantitative Defects of Perlecan 3
2616 QLT005 Qualitative or Quantitative Defects of Integrin Alpha-7 3
2617 ADL098 Adolescent-Onset Epilepsy Syndrome 3
2618 RLP007 Relapsing Epidemic Typhus 3
2619 GNT150 Genetic Syndrome with Limb Reduction Defects 3
2620 NNS102 Non-Syndromic Anorectal Malformation with Rectal Atresia 3
2621 MLF007 Malformation Syndrome with Hamartosis 3
2622 c GNT132 Genetic 46,xx Disorder of Sex Development 3
2623 ACT173 Acute Poisoning by Drugs with Membrane-Stabilizing Effect 3
2624 ATS440 Autosomal Ichthyosis Syndrome with Other Associated Signs 3
2625 NNS051 Non-Syndromic Urogenital Tract Malformation of Male 3
2626 NNS069 Non-Syndromic Esophageal Malformation 3
2627 PRR036 Pierre Robin Syndrome Associated with Collagen Disease 3
2628 NNS099 Non-Syndromic Anorectal Malformation with H-Type Fistula 3
2629 INF179 Infectious, Fungal or Parasitic Myopathy 3
2630 NNS105 Non-Syndromic Anorectal Malformation with Vestibular Fistula 3
2631 DSR047 Disorder of Fucoglycosan Synthesis 3
2632 c CHR232 Chromosome 21, Uniparental Disomy 3
2633 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
2634 DHD002 Dhdds-Cdg 3
2635 FRN025 Frontonasal Dysplasia Klippel Feil Syndrome 2
2636 CLF054 Cleft Palate, Cardiac Defects, and Intellectual Disability 2
2637 MCR069 Microcornea Corectopia Macular Hypoplasia 2
2638 46X005 46,xx Gonadal Dysgenesis Epibulbar Dermoid 2
2639 CMB010 Combarros Calleja Leno Syndrome 2
2640 BBY001 Baby Rattle Pelvic Dysplasia 2
2641 HMN020 Human Spumaretrovirus Infection 2
2642 GNT101 Genetic Endocrine Growth Disease 2
2643 JNS004 Jeune Syndrome Situs Inversus 2
2644 GMP001 Gmppa-Cdg 2
2645 ARB002 Aerobic Actinomyces Infection 2
2646 FRN015 Franceschini Vardeu Guala Syndrome 2
2647 BLP007 Blepharo Naso Facial Syndrome Van Maldergem Type 2
2648 CRB054 Cerebellar Astrocytoma, Childhood 2
2649 HTC001 Hutchinson Incisors 2
2650 GNT111 Genetic Cardiac Tumor 2
2651 MCR054 Microcephaly Microphthalmos Blindness 2
2652 KNG002 Kingella Infections 2
2653 NNL003 Non-Lissencephalic Cortical Dysplasia 2
2654 PRX098 Peroxisomal Disease with Epilepsy 2
2655 PSD042 Pseudopapilledema Blepharophimosis Hand Anomalies 2
2656 HYP158 Hyperinsulinism, Diffuse 2
2657 LTH006 Lethal Chondrodysplasia Seller Type 2
2658 WNT001 Winter Harding Hyde Syndrome 2
2659 JVN037 Juvenile-Onset Small-Fiber Polyneuropathy 2
2660 PRX087 Paroxysomal Nonkinesigenic Dyskinesia 2
2661 ADS005 Aids Dysmorphic Syndrome 2
2662 QLT036 Qualitative or Quantitative Defects of Protein O-Mannose Beta1,2n-Acetylglucosaminyltransferase 2
2663 HMG011 Hmg Coa Synthetase Deficiency 2
2664 RDL009 Radial Ray Agenesis 2
2665 SLW002 Saul Wilkes Stevenson Syndrome 2
2666 ACQ060 Acquired Peripheral Movement Disorder 2
2667 XLN254 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadripare 2
2668 SNG001 Singh Chhaparwal Dhanda Syndrome 2
2669 RNR001 Renier Gabreels Jasper Syndrome 2
2670 GNT170 Genetic Superficial Corneal Dystrophy 2
2671 DYS205 Dysostosis of Genetic Origin 2
2672 THD001 Theodor Hertz Goodman Syndrome 2
2673 WLB001 Walbaum Titran Durieux Crepin Syndrome 2
2674 ISL162 Isolated Female Hypospadias 2
2675 MRT005 Maroteaux Stanescu Cousin Syndrome 2
2676 GNT086 Genetic Subcutaneous Tissue Disorder 2
2677 BRN047 Barnicoat Baraitser Syndrome 2
2678 NNS052 Non-Syndromic Urogenital Tract Malformation of Male and Female 2
2679 SMN009 Simian B Virus Infection 2
2680 UNX004 Unexplained Periodic Fever Syndrome of Childhood 2
2681 SLV009 Slavotinek Pike Mills Hurst Syndrome 2
2682 GNT147 Genetic Otorhinolaryngologic Disease 2
2683 GNT035 Genetic Hair Anomaly 2
2684 GNT190 Genetic Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 2
2685 EPS045 Epstein-Barr Virus-Associated Mesenchymal Tumor 2
2686 AVS007 Avascular Necrosis of Genetic Origin 2
2687 CNS014 Constitutional Deficiency Anemia 2
2688 MRP003 Marphanoid Syndrome Type De Silva 2
2689 FNT001 Fenton Wilkinson Toselano Syndrome 2
2690 GNT036 Genetic Urticaria 2
2691 VSQ001 Vasquez Hurst Sotos Syndrome 2
2692 GNT112 Genetic Soft Tissue Tumor 2
2693 PSD038 Pseudomonas Stutzeri Infections 2
2694 GNT155 Genetic Precocious Puberty 2
2695 GNT160 Genetic Facial Cleft 2
2696 SCR021 Sacral Hemangiomas Multiple Congenital Abnormalities 2
2697 XCH003 X Chromosome Number Anomaly with Female Phenotype 2
2698 GNT158 Genetic Otorhinolaryngological Malformation 2
2699 SYN098 Syndromic Diaphragmatic or Thoracic Malformation 2
2700 SLN003 Silengo Lerone Pelizza Syndrome 2
2701 GNT171 Genetic Primary Orthostatic Disorder 2
2702 CHR693 Chromosomal Disease with Overgrowth 2
2703 MTL006 Metal Transport or Utilization Disorder with Epilepsy 2
2704 TNG005 Tang Hsi Ryu Syndrome 2
2705 NNG004 Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature 2
2706 FCT036 Factor V Amsterdam Bleeding Disorder 2
2707 CHN076 Channelopathy with Epilepsy 2
2708 SYN107 Syndrome or Malformation Associated with Head and Neck Malformations 2
2709 GNT134 Genetic 46,xy Disorder of Sex Development of Endocrine Origin 2
2710 CMB113 Combined Deficiency of Factor Vii and Factor X 2
2711 CHN033 Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly 1
2712 CNN006 Cennamo Gangemi Syndrome 1
2713 CRS004 Coarse Face Hypotonia Constipation 1
2714 CHR236 Chromosome 22q Duplication 1
2715 CYT003 Cytokine Receptor Deficiency 1
2716 CRN081 Craniofacial Dysostosis Arthrogryposis Progeroid Appearence 1
2717 FTL008 Fatal Infantile Encephalomyopathy 1
2718 CSS001 Cassavism 1
2719 OCL038 Oculodentoosseous Dysplasia Recessive 1
2720 ANK005 Ankyloblepharon Filiforme Imperforate Anus 1
2721 CNG098 Congenital Heart Disease Ptosis Hypodontia Craniostosis 1
2722 CHR460 Chromosome Xq Deletion 1
2723 DLT004 Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 1
2724 ATS014 Autism with Port-Wine Stain 1
2725 GRP002 Group B Strep Disease in Newborns 1
2726 CHR215 Chromosome 19p Deletion 1
2727 NNS048 Non-Syndromic Diaphragmatic or Thoracic Malformation 1
2728 CHR459 Chromosome Xp Deletion 1
2729 c QLT006 Qualitative or Quantitative Defects of Gamma-Sarcoglycan 1
2730 GNT061 Genetic Lens and Zonula Anomaly 1
2731 DST015 Distichiasis Heart Congenital Anomalies 1
2732 MRG004 Marginal Glioneuronal Heterotopia 1
2733 GNT089 Genetic Mixed Dermis Disorder 1
2734 DSM009 Die Smulders Vles Fryns Syndrome 1
2735 GNT127 Genetic Hyperparathyroidism 1
2736 FML365 Familiar or Sporadic Hemiplegic Migraine 1
2737 QLT015 Qualitative or Quantitative Defects of Fkrp 1
2738 DBL006 Double Nails on the Fifth Toe 1
2739 QLT017 Qualitative or Quantitative Defects of Myotubularin 1
2740 CLF012 Cleft Lip Palate Pituitary Deficiency 1
2741 GNT122 Genetic Posterior Fossa Malformation 1
2742 INF042 Infant Epilepsy with Migrant Focal Crisis 1
2743 P QLT037 Qualitative or Quantitative Defects of Protein O-Mannosyltransferase 1 1
2744 FML351 Familiar Chronic Mucocutaneous Candidiasis 1
2745 QLT022 Qualitative or Quantitative Defects of Emerin 1
2746 GNT102 Genetic Urogenital Tract Malformation 1
2747 QLT032 Qualitative or Quantitative Defects of Telethonin 1
2748 GNT057 Genetic Polyendocrinopathy 1
2749 ANM073 Anomaly of Puberty or/and Menstrual Cycle of Genetic Origin 1
2750 SRP006 Serpinopathy with Toxic Serpin Polymerization 1
2751 LMN010 Laminopathy with Premature Aging 1
2752 GNT106 Genetic Polycythemia 1
2753 QLT029 Qualitative or Quantitative Defects of Desmin 1
2754 GRX001 Grix Blankenship Peterson Syndrome 1
2755 QLT033 Qualitative or Quantitative Defects of Titin 1
2756 CLF017 Cleft Palate Heart Disease Polydactyly Absent Tibia 1
2757 c QLT012 Qualitative or Quantitative Defects of Alpha-Sarcoglycan 1
2758 NCT005 N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii 1
2759 QLT039 Qualitative or Quantitative Defects of Myofibrillar Proteins 1
2760 GRN054 Grin1-Associated Disorders 1
2761 GRN057 Granulomatous Autoinflammatory Syndrome of Childhood 1
2762 QLT014 Qualitative or Quantitative Defects of Fukutin 1
2763 DYS204 Dysostosis of Genetic Origin with Limb Anomaly As a Major Feature 1
2764 GNT066 Genetic Malformation Syndrome with Odontal and/or Periodontal Component 1
2765 SYN131 Syndromic Genetic Keratoconus 1
2766 GNT185 Genetic Syndrome with a Cerebellar Malformation As a Major Feature 1
2767 OTH018 Other Genetic Dermis Disorder 1
2768 GNT116 Genetic Urogenital Tumor 1
2769 LPD013 Lipidosis with Triglycerid Storage Disease 1
2770 TYR006 Tyrosine-Oxidase Temporary Deficiency 1
2771 NVS014 Nevus Mucinosis 1
2772 SCK007 Seckel Like Syndrome Majoor-Krakauer Type 1
2773 c QLT040 Qualitative or Quantitative Defects of Protein O-Mannosyltransferase 2 1
2774 QLT019 Qualitative or Quantitative Defects of Calpain 1
2775 GNT186 Genetic Syndrome with a Dandy-Walker Malformation As a Major Feature 1
2776 QLT025 Qualitative or Quantitative Defects of Protein Serca1 1
2777 GNT067 Genetic Head and Neck Malformation 1
2778 QLT018 Qualitative or Quantitative Defects of Trim32 1
2779 GNT099 Genetic Nail Anomaly 1
2780 GNT119 Genetic Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature 1
2781 GNT139 Genetic Intractable Diarrhea of Infancy 1
2782 QLT028 Qualitative or Quantitative Defects of Alphab-Cristallin 1
2783 GNT123 Genetic Cerebellar Malformation 1
2784 QLT026 Qualitative or Quantitative Defects of Glucosamine -2-Epimerase/n-Acetylmannosamine Kinase - 1
2785 GNT096 Genetic Porokeratosis 1
2786 EXT066 Extragonadal Non-Dysgerminomatous Germ Cell Tumor 1
2787 QLT023 Qualitative or Quantitative Defects of Selenoprotein N1 1
2788 QLT024 Qualitative or Quantitative Defects of Plectin 1
2789 GNT144 Genetic Primary Orthostatic Hypotension 1
2790 QLT030 Qualitative or Quantitative Defects of Protein Zasp 1
2791 QLT021 Qualitative or Quantitative Defects of Beta-Myosin Heavy Chain 1
2792 QLT034 Qualitative or Quantitative Defects of Nebulin 1
2793 SRP008 Serpinopathy with Loss of Serpin Function 1
2794 UNC022 Unclassified Autoinflammatory Syndrome of Childhood 1
2795 PYG008 Pyogenic Autoinflammatory Syndrome of Childhood 1
2796 QLT043 Qualitative or Quantitative Defects of Tropomyosin 1
2797 GNT151 Genetic Syndromic Esophageal Malformation 1
2798 TYP043 Type 1 Interferonopathy of Childhood 1
2799 QLT031 Qualitative or Quantitative Defects of Filamin C 1
2800 QLT038 Qualitative or Quantitative Defects of Protein Glycosyltransferase-Like 1
2801 GNT141 Genetic Syndromic Pierre Robin Syndrome 1
2802 LNS006 Lens Size Anomaly of Genetic Origin 1
2803 BLG001 Biological Anomaly Without Phenotypic Characterization 1
2804 SYN133 Syndromic Genetic Cataract 1
2805 LCR015 Lacrimal Drainage System Anomaly of Genetic Origin 1
2806 NNG003 Non-Genetic Cardiac Rhythm Disease 1
2807 LMN008 Laminopathy with Lipodystrophy 1
2808 QLT044 Qualitative or Quantitative Defects of Torsin-1a-Interacting Protein 1 1
2809 GNT159 Genetic Tracheal Anomaly 1
2810 QLT042 Qualitative or Quantitative Defects of Troponin 1
2811 SYN132 Syndromic Genetic Ectopia Lentis 1
2812 SCN084 Secondary Early-Onset Glaucoma of Genetic Origin 1
2813 SYN134 Syndromic Genetic Disorder with Strabismus 1
2814 GNT154 Genetic Precocious Puberty in Female 1
2815 LNS005 Lens Position Anomaly of Genetic Origin 1
2816 CHN030 Chondrodysplasia Punctata Sheffield Type 1
2817 BRC021 Brachydactyly Absence of Distal Phalanges 1
2818 CHR234 Chromosome 21q Duplication 1
2819 CHR173 Christian Johnson Angenieta Syndrome 1
2820 BRC030 Brachydactyly Tibial Hypoplasia 1
2821 BRC029 Brachydactyly Small Stature Face Anomalies 1
2822 BRN054 Bronchiectasis Oligospermia 1
2823 CNT054 Cantu Sanchez-Corona Garcia-Cruz Syndrome 1
2824 CHR186 Chromosome 11p Duplication 1
2825 15Q006 15q13.3 Microduplication Syndrome 1
2826 CLF013 Cleft Lip Palate-Tetraphocomelia 1
2827 CHR237 Chromosome 2p Deletion 1
2828 CRB067 Cerebral Calcification Cerebellar Hypoplasia 1
2829 CHR172 Christian Demyer Franken Syndrome 1
2830 CNZ002 Coenzyme Q Cytochrome C Reductase Deficiency of 1
2831 AMY011 Amyloidosis Bronchopulmonary 1
2832 CLV006 Colver Steer Godman Syndrome 1
2833 BRN059 Burn Goodship Syndrome 1
2834 CLB013 Coloboma Porencephaly Hydronephrosis 1
2835 CHR513 Chromosome 15q25.2 Microdeletion 1
2836 CHN031 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency 1
2837 BRY002 Bruyn Scheltens Syndrome 1
2838 CLL023 Collins Sakati Syndrome 1
2839 DBT016 Diabetes Persistent Mullerian Ducts 1
2840 CNG103 Congenital Hypotrichosis Milia 1
2841 CLF009 Cleft Lip Palate Dysmorphism Kumar Type 1
2842 CND032 Condrodisplasia Punctata Rizomélica 1
2843 CRP015 Corpus Callosum Dysgenesis X-Linked Recessive 1
2844 CHR166 Choreoacanthocytosis Amyotrophic 1
2845 CHR231 Chromosome 20q Duplication 1
2846 CRN098 Craniosynostosis Maroteaux Fonfria Type 1
2847 CNG066 Congenital Craniosynostosis Maternal Hyperthyroiditis 1
2848 DPL006 Duplication of the Thumb Unilateral Biphalangeal 1
2849 CHR191 Chromosome 12q Deletion 1
2850 CNG126 Congenital Stenosis of Cervical Medullary Canal 1
2851 CHR216 Chromosome 19p Duplication 1
2852 CNG059 Congenital Arteriovenous Shunt 1
2853 CRC011 Circumscribed Disseminated Keratosis Jadassohn Lew Type 1
2854 FGN002 Feigenbaum Bergeron Syndrome 1
2855 DBL005 Double Fingernail of Fifth Finger 1
2856 ENM003 Enamel Hypoplasia Cataract Hydrocephaly 1
2857 CRN089 Craniostenosis Cataract 1
2858 CRN096 Craniosynostosis Exostoses Nevus Epibulbar Dermoid 1
2859 CRT029 Cortada Koussef Matsumoto Syndrome 1
2860 CRN085 Craniofrontonasal Syndrome Teebi Type 1
2861 CNG132 Congenital Vagal Hyperreflexivity 1
2862 MLP002 Male Pseudohermaphroditism Due to Defective Lh Molecule 1
2863 DSM008 Die Smulders Droog Van Dijk Syndrome 1
2864 GTT003 Gait Ataxia with Late Onset Polyneuropathy Syndrome 1
2865 CNG444 Congenital Myxovirus 1
2866 FBL007 Fibular Hypoplasia Scapulo Pelvic Dysplasia Absent 1
2867 CLF014 Cleft Lower Lip Cleft Lateral Canthi Chorioretinal 1
2868 HYP148 Hypercalcinuria Macular Coloboma 1
2869 CLF011 Cleft Lip Palate Oligodontia Syndactyly Pili Torti 1
2870 NMR001 Numeric Sex Chromosome Variations 1
2871 ECC009 Eccentrochondrodyspl