Rare Diseases Category (14365 diseases)


Including: rare
See other categories (disease lists)

# Family MCID Name MIFTS
1 FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 19
2 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81
3 c NRF023 Neurofibromatosis, Type Ii 80
4 PFF001 Pfeiffer Syndrome 79
5 P PRK057 Parkinson Disease, Late-Onset 78
6 P LYN001 Lynch Syndrome 77
7 PHN003 Phenylketonuria 75
8 c ART115 Aortic Valve Disease 1 75
9 P APL001 Aplastic Anemia 74
10 c ATM006 Autoimmune Lymphoproliferative Syndrome 74
11 BSL036 Basal Cell Nevus Syndrome 73
12 P RTN024 Retinoblastoma 73
13 P MLT020 Multiple Sclerosis 72
14 P WSK001 Wiskott-Aldrich Syndrome 72
15 P BRG001 Brugada Syndrome 71
16 c GCH015 Gaucher Disease, Type I 70
17 P MYP004 Myopathy 70
18 P ASP006 Aspergillosis 69
19 P MYC084 Mycobacterium Tuberculosis 1 68
20 P MYS003 Myasthenia Gravis 68
21 P HML033 Hemolytic Uremic Syndrome, Atypical 1 68
22 P ALP004 Alport Syndrome 68
23 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
24 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67
25 CHD001 Chediak-Higashi Syndrome 66
26 P TRC072 Treacher Collins Syndrome 1 66
27 ART001 Arterial Tortuosity Syndrome 66
28 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 66
29 c LNG044 Long Qt Syndrome 1 66
30 CHG001 Chagas Disease 66
31 HTC003 Hutchinson-Gilford Progeria Syndrome 65
32 DMN031 Dementia, Lewy Body 65
33 P DYS154 Dystonia 65
34 c ART101 Aortic Valve Disease 2 65
35 P HRP006 Herpes Simplex 65
36 GRN037 Granulomatosis with Polyangiitis 65
37 MYC079 Myoclonic Epilepsy of Lafora 64
38 P PRT008 Proteus Syndrome 64
39 BRC012 Brucellosis 64
40 P PRD008 Periodontitis 64
41 MSC007 Muscle Hypertrophy 64
42 KND001 Kindler Syndrome 64
43 c PRC016 Pre-Eclampsia 63
44 TYP007 Typhoid Fever 63
45 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 63
46 c ALP101 Alpha-Thalassemia 62
47 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62
48 NNN026 Noonan Syndrome with Multiple Lentigines 62
49 c GM1007 Gm1 Gangliosidosis 62
50 c BRN108 Branchiootic Syndrome 1 62
51 P SPN046 Spinal Muscular Atrophy 62
52 CHR619 Chromosome 2q35 Duplication Syndrome 62
53 P BCK002 Beckwith-Wiedemann Syndrome 62
54 PHL006 Phelan-Mcdermid Syndrome 62
55 MSL001 Measles 62
56 NRM001 Neuromyelitis Optica 61
57 P ENC018 Encephalopathy 61
58 ARG002 Argininosuccinic Aciduria 61
59 SDD001 Sudden Infant Death Syndrome 61
60 RGH009 Right Atrial Isomerism 60
61 P SCL018 Scoliosis 60
62 CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60
63 c LYN004 Lynch Syndrome I 60
64 c WLF013 Wolfram Syndrome 1 60
65 P ALP009 Alopecia Areata 60
66 STR039 Sturge-Weber Syndrome 60
67 P WLF004 Wolfram Syndrome 60
68 RHM001 Rheumatic Fever 60
69 P SNS001 Sensorineural Hearing Loss 60
70 P CTR002 Cataract 60
71 STT001 Status Epilepticus 60
72 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60
73 P RBL001 Rubella 59
74 PRT013 Portal Hypertension 59
75 CRT002 Cartilage-Hair Hypoplasia 59
76 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 59
77 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 59
78 MTC097 Mitochondrial Complex Iv Deficiency 59
79 P LYM033 Lymphoproliferative Syndrome 59
80 c LTN004 Late-Onset Retinal Degeneration 59
81 c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 59
82 P NMN002 Niemann-Pick Disease 59
83 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59
84 c CLR131 Ciliary Dyskinesia, Primary, 1 59
85 INC002 Inclusion Body Myositis 58
86 ANT024 Anthrax Disease 58
87 MTC027 Mitochondrial Trifunctional Protein Deficiency 58
88 c CHL140 Chilblain Lupus 1 58
89 ADL030 Adult-Onset Still's Disease 58
90 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58
91 P UVT001 Uveitis 57
92 c CHR417 Chronic Graft Versus Host Disease 57
93 c ANM036 Anemia, Sideroblastic, 1 57
94 P MYM013 Moyamoya Disease 1 57
95 CHK001 Chikungunya 57
96 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57
97 ARS001 Aarskog-Scott Syndrome 57
98 c ANG068 Angioedema, Hereditary, Type I 57
99 BRT005 Barth Syndrome 57
100 P ANG015 Angioedema 57
101 DNN002 Donnai-Barrow Syndrome 56
102 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 56
103 ADN027 Adenomyosis 56
104 SFT003 Soft Tissue Sarcoma 56
105 VRG001 Variegate Porphyria 56
106 ANN002 Anencephaly 56
107 NRL004 Neuroleptic Malignant Syndrome 56
108 P NRF002 Neurofibromatosis 56
109 c GRV008 Graves Disease 1 56
110 ANS023 Anus, Imperforate 56
111 GDP001 Goodpasture Syndrome 55
112 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
113 P DRR001 Diarrhea 55
114 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55
115 P GRV001 Graves' Disease 55
116 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55
117 OCL020 Ocular Cicatricial Pemphigoid 55
118 CCH002 Coach Syndrome 55
119 FLR002 Filariasis 55
120 c INT064 Intermediate Uveitis 55
121 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 55
122 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 55
123 SYN007 Synovitis 54
124 FCT003 Factor X Deficiency 54
125 NCR004 Nocardiosis 54
126 RLP001 Relapsing Polychondritis 54
127 P HMP002 Hemophagocytic Lymphohistiocytosis 54
128 P ALP008 Alopecia 54
129 RST011 Restrictive Dermopathy, Lethal 54
130 HLL004 Hellp Syndrome 54
131 SLP001 Sleeping Sickness 54
132 P BRC006 Brachydactyly 53
133 CRM001 Crimean-Congo Hemorrhagic Fever 53
134 c JBR041 Joubert Syndrome 3 53
135 HYP706 Hypermobile Ehlers-Danlos Syndrome 53
136 HYP801 Hyperferritinemia with or Without Cataract 53
137 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 53
138 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53
139 P RTN016 Retinal Degeneration 53
140 c PRD040 Periodontitis, Chronic 53
141 INF034 Infective Endocarditis 53
142 IRD001 Iridocyclitis 53
143 ERD001 Erdheim-Chester Disease 53
144 MLB001 Mulibrey Nanism 53
145 KBG001 Kbg Syndrome 53
146 PRN011 Pernicious Anemia 53
147 c FML008 Familial Retinoblastoma 53
148 P RTN018 Retinal Disease 53
149 P SLV027 Silver-Russell Syndrome 1 53
150 FRY006 Fryns Microphthalmia Syndrome 52
151 P HYP730 Hypogonadotropic Hypogonadism 52
152 P DDN001 Duodenal Ulcer 52
153 c FBR084 Fibromatosis, Gingival, 1 52
154 P PRR016 Pierre Robin Syndrome 52
155 END020 Endocardial Fibroelastosis 52
156 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
157 P ACT105 Acute Mountain Sickness 52
158 P NLX004 Neu-Laxova Syndrome 1 52
159 c CNG189 Congenital Disorder of Glycosylation, Type Ib 52
160 THR009 Thrombocytopenia-Absent Radius Syndrome 52
161 NTR018 Neutrophilia, Hereditary 52
162 c INH030 Inherited Retinal Disorder 51
163 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
164 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
165 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 51
166 c BRD012 Bardet-Biedl Syndrome 11 51
167 FML026 Familial Lipoprotein Lipase Deficiency 51
168 c SCN036 Secondary Progressive Multiple Sclerosis 51
169 c CNG191 Congenital Disorder of Glycosylation, Type Iia 51
170 MLT134 Multiple Pterygium Syndrome, Lethal Type 51
171 c BRG005 Brugada Syndrome 1 51
172 MGL001 Megaloblastic Anemia 51
173 P LCT001 Lactic Acidosis 51
174 c PRM108 Primary Progressive Multiple Sclerosis 51
175 ACR013 Acrodysostosis 51
176 ESP002 Esophageal Varix 51
177 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 51
178 CLB002 Clubfoot 51
179 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 51
180 RSP023 Rasopathy 51
181 c VRL007 Viral Encephalitis 51
182 c BRC079 Brachydactyly, Type A2 51
183 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 51
184 RLP003 Relapsing Fever 51
185 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 51
186 c KLF004 Kleefstra Syndrome 1 50
187 WLL006 Wells Syndrome 50
188 c PRM012 Primary Polycythemia 50
189 P OVR082 Overgrowth Syndrome 50
190 c HNT004 Huntington Disease-Like 2 50
191 P ECL001 Eclampsia 50
192 c GRS014 Griscelli Syndrome, Type 2 50
193 FLT009 Folate Malabsorption, Hereditary 50
194 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 50
195 c SVR005 Severe Pre-Eclampsia 50
196 P SMP003 Simpson-Golabi-Behmel Syndrome 50
197 P PRT096 Peritoneal Mesothelioma 50
198 P MTR003 Mitral Valve Stenosis 50
199 P GNG025 Gingival Fibromatosis 50
200 c HMC010 Hemochromatosis, Type 3 50
201 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 50
202 P SCK005 Sickle Cell Disease 50
203 CYT005 Cytomegalovirus Retinitis 50
204 P NNT009 Neonatal Diabetes Mellitus 50
205 c AMY009 Amyloidosis Aa 50
206 PLC008 Placenta Disease 50
207 ECT026 Ectopic Pregnancy 50
208 c BRD020 Bardet-Biedl Syndrome 8 50
209 BLS002 Blastomycosis 50
210 c DYS119 Dystonia 9 50
211 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
212 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 49
213 RBF001 Riboflavin Deficiency 49
214 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 49
215 ERY004 Erysipelas 49
216 P ART018 Aortic Valve Insufficiency 49
217 CRD002 Cri-Du-Chat Syndrome 49
218 SLT005 Solitary Median Maxillary Central Incisor 49
219 47X002 47,xyy 49
220 SPT005 Spotted Fever 49
221 PLM041 Pulmonary Valve Stenosis 49
222 c OST126 Osteopetrosis, Autosomal Recessive 1 49
223 WDM005 Wiedemann-Rautenstrauch Syndrome 49
224 c NNN010 Noonan Syndrome 3 49
225 c NML002 Nemaline Myopathy 1 49
226 P RCR004 Recurrent Respiratory Papillomatosis 49
227 P CMP008 Compartment Syndrome 49
228 FRN020 Frontal Fibrosing Alopecia 49
229 P ALP061 Alopecia, Androgenetic, 1 49
230 c INV001 Invasive Aspergillosis 49
231 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 49
232 EBL001 Ebola Hemorrhagic Fever 49
233 c NML003 Nemaline Myopathy 2 48
234 MCR020 Microsporidiosis 48
235 c USH035 Usher Syndrome Type 2 48
236 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 48
237 c MTC061 Mitochondrial Dna Depletion Syndrome 1 48
238 PTC002 Potocki-Lupski Syndrome 48
239 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
240 P MCL001 Mucolipidosis 48
241 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
242 FBR032 Fibromuscular Dysplasia 48
243 P GND004 Gonadal Dysgenesis 48
244 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 48
245 DRG013 Drug-Induced Lupus Erythematosus 48
246 MGL003 Megalocornea 48
247 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 48
248 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
249 P MRC003 Mercury Poisoning 48
250 NNT017 Neonatal Adrenoleukodystrophy 47
251 c PRK085 Parkinson Disease 1, Autosomal Dominant 47
252 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
253 c NLX003 Neu-Laxova Syndrome 2 47
254 VRN004 Vernal Keratoconjunctivitis 47
255 SPH010 Sphingolipidosis 47
256 P HMN032 Human Herpesvirus 8 47
257 P ERY008 Erythromelalgia 47
258 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 47
259 P JVN007 Juvenile Absence Epilepsy 47
260 P DNR001 Duane Retraction Syndrome 47
261 TTR011 Tetraploidy 47
262 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 47
263 P KLF001 Kleefstra Syndrome 47
264 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47
265 P JVN008 Juvenile Glaucoma 47
266 c CRG004 Crigler-Najjar Syndrome, Type Ii 47
267 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 47
268 c MCK031 Meckel Syndrome, Type 2 47
269 MNC019 Monocarboxylate Transporter 1 Deficiency 47
270 PRG033 Progressive Non-Fluent Aphasia 46
271 P VTR007 Vitreoretinopathy 46
272 c CNT075 Central Precocious Puberty 46
273 ASP004 Asphyxia Neonatorum 46
274 P ATM019 Autoimmune Polyendocrine Syndrome 46
275 c ACT076 Acute Myocarditis 46
276 c KNB006 Knobloch Syndrome 1 46
277 c CTR098 Cataract 1, Multiple Types 46
278 c NML004 Nemaline Myopathy 3 46
279 P TRM004 Trimethylaminuria 46
280 MYL013 Myeloperoxidase Deficiency 46
281 c ALP104 Alport Syndrome 3, Autosomal Dominant 46
282 c LNG050 Long Qt Syndrome 5 46
283 c MYP079 Myopathy, Myofibrillar, 5 46
284 c CNG203 Congenital Disorder of Glycosylation, Type Iii 46
285 c ACQ010 Acquired Polycythemia 46
286 MNG006 Monogenic Diabetes 46
287 STT007 Steatocystoma Multiplex 46
288 ENC010 Encephalocraniocutaneous Lipomatosis 46
289 c BRG004 Brugada Syndrome 4 46
290 c VNW008 Von Willebrand Disease, Type 3 46
291 SBP004 Subependymoma 46
292 c BRT050 Bartter Syndrome, Type 2, Antenatal 46
293 BRL010 Buruli Ulcer 46
294 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 46
295 c DRR009 Diarrhea 6 46
296 PRX001 Peroxisomal Disease 46
297 PST027 Postencephalitic Parkinson Disease 46
298 GLL048 Glial Tumor 45
299 P HRN001 Horner's Syndrome 45
300 P PRD037 Periodontal Ehlers-Danlos Syndrome 45
301 c SPN293 Spinocerebellar Ataxia 12 45
302 GLY031 Glycoproteinosis 45
303 STP004 Staphylococcal Toxic Shock Syndrome 45
304 c PSD106 Pseudo-Torch Syndrome 1 45
305 JVN033 Juvenile Nasopharyngeal Angiofibroma 45
306 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 45
307 STS002 Situs Inversus 45
308 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 45
309 c GM2006 Gm2 Gangliosidosis 45
310 c CNG199 Congenital Disorder of Glycosylation, Type Im 45
311 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 45
312 P DSR089 Disorders of Sexual Development 45
313 c LBR013 Leber Congenital Amaurosis 3 45
314 CLC017 Calcification of Joints and Arteries 45
315 P PRD021 Periodic Paralysis 45
316 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 45
317 c LYM106 Lymphoproliferative Syndrome 1 45
318 P OSS001 Ossifying Fibroma 45
319 c ZLL011 Zellweger Spectrum Disorder 45
320 RNS001 Raine Syndrome 45
321 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 45
322 c XFP001 Xfe Progeroid Syndrome 45
323 FSH001 Fish-Eye Disease 45
324 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45
325 HMH004 Hemihyperplasia, Isolated 45
326 c CTR103 Cataract 4, Multiple Types 45
327 c MTC060 Mitochondrial Dna Depletion Syndrome 9 45
328 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
329 CSL001 Causalgia 45
330 PLN005 Palindromic Rheumatism 45
331 P PSD003 Pseudohypoaldosteronism 44
332 c MLG002 Malignant Peritoneal Mesothelioma 44
333 GRN017 Granulocytopenia 44
334 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
335 PTT037 Pituitary Tumors 44
336 c LNG051 Long Qt Syndrome 6 44
337 c PRK065 Parkinson Disease 20, Early-Onset 44
338 P SDR002 Siderosis 44
339 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 44
340 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
341 c BRC109 Brachydactyly, Type E1 44
342 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
343 SPN119 Spondylarthropathy 44
344 c ANT071 Anterior Segment Dysgenesis 4 44
345 c RNG023 Ring Chromosome 7 44
346 SML028 Semilobar Holoprosencephaly 44
347 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 44
348 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
349 c HRD173 Hereditary Late-Onset Parkinson Disease 44
350 DYS018 Dysostosis 44
351 VLV044 Vulvar Intraepithelial Neoplasia 44
352 GRN007 Granuloma Annulare 44
353 P BRN042 Branchiootic Syndrome 44
354 CHL109 Childhood Apraxia of Speech 44
355 IDP074 Idiopathic Bronchiectasis 44
356 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
357 IDP033 Idiopathic Edema 44
358 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
359 ANP009 Anaplastic Oligodendroglioma 43
360 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 43
361 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
362 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 43
363 CLP005 Ciliopathy 43
364 c EPL133 Epilepsy, Juvenile Absence 1 43
365 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 43
366 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
367 MRG013 Mirage Syndrome 43
368 c HYP575 Hypotrichosis 7 43
369 c DYS059 Dystonia 16 43
370 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 43
371 c CNG198 Congenital Disorder of Glycosylation, Type Il 43
372 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
373 P SYN075 Syngnathia 43
374 FRY002 Fryns Syndrome 43
375 c CHR546 Chronic Mountain Sickness 43
376 P EPT020 Epithelioid Hemangioendothelioma 43
377 P DMY001 Demyelinating Polyneuropathy 43
378 c PRK052 Parkinson Disease 17 43
379 SCH037 Schinzel-Giedion Midface Retraction Syndrome 43
380 IDP073 Idiopathic Hypercalciuria 43
381 P PRP034 Purpura Fulminans 43
382 c ALP105 Alport Syndrome 2, Autosomal Recessive 43
383 PMP004 Pemphigus Foliaceus 43
384 DSC009 Discoid Lupus Erythematosus 42
385 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 42
386 TRP009 Triple X Syndrome 42
387 C1Q001 C1q Deficiency 42
388 CYT002 Cytokine Deficiency 42
389 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 42
390 PRS115 Prosthetic Joint Infection 42
391 c MCL066 Macular Dystrophy, Vitelliform, 2 42
392 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 42
393 P CLS010 Cluster Headache 42
394 c MTC116 Mitochondrial Myopathy, Infantile, Transient 42
395 c LYM107 Lymphoproliferative Syndrome 2 42
396 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 42
397 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 42
398 PHH001 Phaeohyphomycosis 42
399 MTH077 Methylmalonic Aciduria, Cbla Type 42
400 PHS023 Phosphoserine Aminotransferase Deficiency 42
401 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
402 c CNG197 Congenital Disorder of Glycosylation, Type Ih 42
403 TRP014 Triploidy 42
404 c LBR009 Leber Congenital Amaurosis 14 42
405 INT276 Interatrial Communication 42
406 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 42
407 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
408 BTN002 Boutonneuse Fever 42
409 c PRG011 Progressive Myoclonus Epilepsy 42
410 P HYP087 Hypotrichosis 42
411 P RNG032 Ring Chromosome 42
412 P VTL001 Vitelliform Macular Dystrophy 42
413 c WLF009 Wolfram Syndrome 2 42
414 EHR002 Ehrlichiosis 42
415 FSR001 Fusariosis 42
416 c MYP080 Myopathy, Myofibrillar, 4 41
417 FBR019 Fibromatosis 41
418 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 41
419 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
420 c PST041 Posterior Urethral Valves 41
421 CNG134 Congenitally Corrected Transposition of the Great Arteries 41
422 c BRT038 Baraitser-Winter Syndrome 1 41
423 c CTR132 Cataract 3, Multiple Types 41
424 c BRC052 Brachydactyly, Type B2 41
425 c WRB003 Warburg Micro Syndrome 2 41
426 P KLZ004 Kala-Azar 1 41
427 LCH016 Lichen Sclerosus Et Atrophicus 41
428 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 41
429 c CLR136 Ciliary Dyskinesia, Primary, 9 41
430 c SPN100 Spinocerebellar Ataxia 27 41
431 PRK003 Parkes Weber Syndrome 41
432 c PRM032 Primary Congenital Glaucoma 41
433 INH001 Inhalation Anthrax 41
434 CHR659 Chromosome 22q11.2 Duplication Syndrome 41
435 PLG004 Plagiocephaly 41
436 c CNG194 Congenital Disorder of Glycosylation, Type Ig 41
437 DPH019 Diaphanospondylodysostosis 41
438 c CTR118 Cataract 14, Multiple Types 41
439 c FML363 Familial Adult Myoclonic Epilepsy 41
440 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 41
441 HYP466 Hyperplastic Polyposis Syndrome 41
442 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 41
443 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 41
444 P SPS008 Spastic Ataxia 41
445 c 46X002 46 Xx Gonadal Dysgenesis 41
446 PYG006 Pyogenic Granuloma 41
447 c HYP581 Hypotrichosis 6 40
448 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 40
449 c CTR183 Cataract 38 40
450 c PRK090 Parkinson Disease 3, Autosomal Dominant 40
451 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
452 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40
453 HYL005 Hyaline Body Myopathy 40
454 c MYC083 Myoclonic Epilepsy, Familial Infantile 40
455 c ATS018 Autosomal Recessive Alport Syndrome 40
456 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 40
457 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40
458 IDP064 Idiopathic Neutropenia 40
459 c TYR011 Tyrosinemia, Type Iii 40
460 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
461 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
462 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
463 P WRB001 Warburg Micro Syndrome 40
464 BLR027 Blue Rubber Bleb Nevus 40
465 WDH003 Woodhouse-Sakati Syndrome 40
466 MRB001 Marburg Hemorrhagic Fever 40
467 c CNG195 Congenital Disorder of Glycosylation, Type Id 40
468 c NML010 Nemaline Myopathy 7 40
469 P MCR364 Macrodactyly 40
470 PLY100 Polyploidy 40
471 P TRC031 Trichorhinophalangeal Syndrome 40
472 HNZ004 Heinz Body Anemias 39
473 ORM002 Oromandibular Dystonia 39
474 P INT260 Intracranial Berry Aneurysm 39
475 c NML005 Nemaline Myopathy 4 39
476 HTR003 Heterotaxy 39
477 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
478 NDL003 Nodular Nonsuppurative Panniculitis 39
479 c BRG007 Brugada Syndrome 5 39
480 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
481 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 39
482 P CRN074 Coronary Artery Aneurysm 39
483 P DYS021 Dysautonomia 39
484 c ERL056 Early-Onset Parkinson's Disease 39
485 WLL004 Wallerian Degeneration 39
486 c CTR130 Cataract 9, Multiple Types 39
487 c ACT004 Acute Diarrhea 39
488 c DYS151 Dystonia 25 39
489 RCK002 Rocky Mountain Spotted Fever 39
490 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
491 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 39
492 RTC012 Reticuloendotheliosis, X-Linked 39
493 PCH007 Pouchitis 39
494 CRV045 Cervical Intraepithelial Neoplasia 39
495 c LNG046 Long Qt Syndrome 11 39
496 c HYP507 Hypotrichosis 1 39
497 P NNT042 Neonatal Lupus Erythematosus 39
498 BLL012 Bullous Impetigo 39
499 c BRG003 Brugada Syndrome 3 39
500 c PRK091 Parkinson Disease 4, Autosomal Dominant 39
501 IND002 Indolent Systemic Mastocytosis 39
502 SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39
503 RHM035 Rheumatic Fever-Related Antigen 39
504 c RTN066 Retinitis Pigmentosa 4 39
505 P MNN007 Meningocele 39
506 SLP010 Slipped Capital Femoral Epiphysis 39
507 CMB017 Combined Oxidative Phosphorylation Deficiency 6 38
508 AGM004 Agammaglobulinemia, Non-Bruton Type 38
509 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 38
510 AMN006 Aminoaciduria 38
511 RPD005 Rapidly Involuting Congenital Hemangioma 38
512 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
513 c ACQ012 Acquired Angioedema 38
514 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
515 c ATM075 Autoimmune Encephalitis 38
516 c DNR003 Duane Retraction Syndrome 1 38
517 NCR002 Necrobiosis Lipoidica 38
518 c EPP015 Epiphyseal Dysplasia, Multiple, 3 38
519 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
520 CHR382 Chromosome 18q Deletion Syndrome 38
521 PRM056 Primrose Syndrome 38
522 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
523 ALG027 Al-Gazali-Bakalinova Syndrome 38
524 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 38
525 ISL109 Isolated Cleft Lip 38
526 CHY005 Chylothorax, Congenital 38
527 SPS019 Spastic Paraparesis 38
528 VLV042 Vulvar Vestibulitis Syndrome 38
529 SCR039 Scorpion Envenomation 38
530 MYS004 Myiasis 38
531 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
532 HRT040 Hirata Disease 38
533 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
534 P CNG048 Congenital Hepatic Fibrosis 38
535 c BRC080 Brachydactyly, Type A1, B 38
536 SHW001 Shwartzman Phenomenon 37
537 TNM001 Tinea Imbricata 37
538 CHR502 Chromosome 17q12 Duplication Syndrome 37
539 c CTR115 Cataract 16, Multiple Types 37
540 PRT048 Partial Atrioventricular Canal 37
541 SPC031 Specific Learning Disability 37
542 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
543 P SYN059 Syndactyly, Type V 37
544 CRD016 Cardiac Rupture 37
545 PSD016 Pseudosarcomatous Fibromatosis 37
546 FRN014 Fournier Gangrene 37
547 NNL001 Non-Langerhans-Cell Histiocytosis 37
548 c DYS146 Dystonia 24 37
549 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
550 P ANT061 Antenatal Bartter Syndrome 37
551 STR077 Streptococcal Toxic-Shock Syndrome 37
552 MNN021 Meningococcemia 37
553 c ANT084 Anterior Segment Dysgenesis 3 37
554 MNN001 Meningeal Melanocytoma 37
555 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
556 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 37
557 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
558 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 37
559 c MTC078 Mitochondrial Dna Depletion Syndrome 11 37
560 PST086 Posterior Cortical Atrophy 37
561 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 37
562 SYS071 Systemic Autoimmune Disease 37
563 c PRK070 Parkinson Disease 21 37
564 HYP682 Hypertelorism, Teebi Type 37
565 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 36
566 ATN021 Autoinflammatory Syndrome 36
567 P PHC019 Pheochromocytoma-Paraganglioma 36
568 P NNP021 Nanophthalmos 36
569 P CNG024 Congenital Nystagmus 36
570 MYC017 Mycobacterium Kansasii 36
571 c CNG379 Congenital Disorder of Glycosylation, Type It 36
572 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36
573 c HYP559 Hypotrichosis 8 36
574 P DNT007 Dentin Sensitivity 36
575 c ALB015 Albinism, Oculocutaneous, Type V 36
576 c RTN052 Retinitis Pigmentosa 23 36
577 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 36
578 c CTR141 Cataract 21, Multiple Types 36
579 c SPN247 Spinocerebellar Ataxia Type 19/22 36
580 c CNR006 Cone-Rod Dystrophy 5 36
581 c PLZ002 Pelizaeus-Merzbacher-Like Disease 36
582 INT020 Intravenous Leiomyomatosis 36
583 c ANT085 Anterior Segment Dysgenesis 5 36
584 PHS022 Phosphoserine Phosphatase Deficiency 36
585 SPT024 Spotted Fever Rickettsiosis 36
586 CNT057 Central Centrifugal Cicatricial Alopecia 36
587 c CTR174 Cataract 40 36
588 P LSS024 Lissencephaly with Cerebellar Hypoplasia 36
589 c MYC068 Myoclonic Epilepsy of Infancy 36
590 c NML022 Nemaline Myopathy 10 36
591 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 36
592 c NML025 Nemaline Myopathy 8 36
593 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 36
594 PRN029 Parainfluenza Virus Type 3 36
595 P MTP001 Metaphyseal Dysplasia 36
596 ATH010 Athyreosis 36
597 ASC009 Ascites, Chylous 35
598 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 35
599 MTG002 Mutagen Sensitivity 35
600 c ANT077 Anterior Segment Dysgenesis 1 35
601 MNS001 Mansonelliasis 35
602 c WLL036 Weill-Marchesani Syndrome 1 35
603 c ALB016 Albinism, Oculocutaneous, Type Vii 35
604 c CTR129 Cataract 31, Multiple Types 35
605 CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 35
606 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35
607 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
608 c ATM022 Autoimmune Myocarditis 35
609 CMB043 Combined Oxidative Phosphorylation Deficiency 9 35
610 RFR013 Refractory Celiac Disease 35
611 c DYS172 Dystonia 27 35
612 c CLR059 Ciliary Dyskinesia, Primary, 13 35
613 c CTR170 Cataract 30, Multiple Types 35
614 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 35
615 CNT106 Centralopathic Epilepsy 35
616 CHR178 Chromosomal Triplication 35
617 PCT001 Pectus Carinatum 35
618 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 35
619 FST010 Fasting Hypoglycemia 35
620 P BRT040 Baraitser-Winter Syndrome 35
621 P MYC026 Myoclonus Epilepsy 35
622 P MTP005 Metaphyseal Anadysplasia 35
623 WBR001 Weber Syndrome 35
624 CHR387 Chromosome Xp21 Deletion Syndrome 35
625 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 35
626 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 35
627 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 35
628 LPB001 Lipoblastoma 34
629 XNT009 Xanthoma Disseminatum 34
630 KSH001 Keshan Disease 34
631 CRY019 Cryohydrocytosis 34
632 LSN002 Loose Anagen Hair Syndrome 34
633 MTH047 Methanol Poisoning 34
634 c STS007 Sotos Syndrome 2 34
635 HYP679 Hypoglossia-Hypodactylia 34
636 c TYP024 Type Ii Mixed Cryoglobulinemia 34
637 c HYP525 Hypotrichosis 2 34
638 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 34
639 HNS001 Hansen's Disease 34
640 GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 34
641 c CLR042 Ciliary Dyskinesia, Primary, 6 34
642 c CLR056 Ciliary Dyskinesia, Primary, 10 34
643 c CTR145 Cataract 44 34
644 c RNG004 Ring Chromosome 1 34
645 CMB046 Combined Oxidative Phosphorylation Deficiency 11 34
646 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 34
647 STC004 Stachybotrys Chartarum 34
648 c BRC060 Brachydactyly, Type E2 34
649 c BRG006 Brugada Syndrome 2 34
650 BWN003 Bowenoid Papulosis 34
651 c BRC062 Brachydactyly, Type D 34
652 c CTR122 Cataract 5, Multiple Types 34
653 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
654 HYP223 Hypoplastic Right Heart Syndrome 34
655 NNT024 Neonatal Stroke 34
656 RHM034 Rahman Syndrome 34
657 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 34
658 c LTH026 Lethal Congenital Contracture Syndrome 4 34
659 c PRM149 Primary Hypereosinophilic Syndrome 34
660 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
661 WRT003 Warthin Tumor 34
662 c ACQ047 Acquired Methemoglobinemia 34
663 c MYM004 Moyamoya Disease 2 34
664 P HVY001 Heavy Chain Disease 34
665 LGH012 Leigh Syndrome with Leukodystrophy 34
666 c PK3005 Pik3ca-Related Overgrowth Syndrome 34
667 GRN022 Granulosa Cell Tumor of the Ovary 34
668 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
669 PRX005 Peroxisomal Biogenesis Disorder 34
670 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 34
671 c RST012 Restless Legs Syndrome 1 34
672 c CNG562 Congenital Hypogonadotropic Hypogonadism 34
673 BRN041 Bornholm Eye Disease 34
674 c CLR066 Ciliary Dyskinesia, Primary, 2 34
675 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 34
676 c INF002 Inflammatory Diarrhea 34
677 c MCR329 Microcephaly, Autosomal Dominant 33
678 c RNG020 Ring Chromosome 4 33
679 LMN011 Laminopathy 33
680 c WLL040 Weill-Marchesani Syndrome 4 33
681 P ACR072 Acrorenal Syndrome 33
682 c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 33
683 c PRM304 Primary Hemophagocytic Lymphohistiocytosis 33
684 MTH086 Methotrexate Toxicity 33
685 PRX009 Paroxysmal Hemicrania 33
686 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
687 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33
688 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33
689 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 33
690 PPL050 Papillary Tumor of the Pineal Region 33
691 PSD008 Pseudopapilledema 33
692 NNS011 Nonseminomatous Germ Cell Tumor 33
693 ACT064 Acute Necrotizing Encephalitis 33
694 HMR015 Humeroradial Synostosis 33
695 EMP011 Emphysema, Congenital Lobar 33
696 PRL042 Proliferating Trichilemmal Cyst 33
697 c HYP576 Hypotrichosis 4 33
698 P CXV002 Coxa Vara 33
699 c PRK025 Parkinson Disease 10 33
700 MSC020 Mosaic Trisomy 8 33
701 CHL107 Childhood-Onset Nemaline Myopathy 33
702 TXC020 Toxic Oil Syndrome 33
703 CMB077 Combined Oxidative Phosphorylation Deficiency 30 33
704 c CTR111 Cataract 36 33
705 c KLF005 Kleefstra Syndrome 2 33
706 SPT023 Septate Uterus 33
707 c CLR095 Ciliary Dyskinesia, Primary, 19 33
708 c HYP577 Hypotrichosis 13 33
709 P PRS013 Prosopagnosia 33
710 c NML021 Nemaline Myopathy 9 33
711 c MCL059 Macular Dystrophy, Patterned, 1 32
712 CHR362 Chromosome 17q21.31 Duplication Syndrome 32
713 BWN006 Bowen's Disease 32
714 CND006 Candida Glabrata 32
715 c BRC075 Brachydactyly, Type A1, C 32
716 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32
717 DSN002 Desanto-Shinawi Syndrome 32
718 GBR007 Gabriele-De Vries Syndrome 32
719 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 32
720 c BRG008 Brugada Syndrome 6 32
721 c VCT004 Vacterl Association with Hydrocephalus 32
722 c DYS145 Dystonia 23 32
723 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 32
724 WST010 West Nile Virus Infection 32
725 CHR377 Chromosome 10q26 Deletion Syndrome 32
726 c ATM068 Autoimmune Hypoparathyroidism 32
727 ODN005 Odontogenic Myxoma 32
728 TRG019 Trigonocephaly with Short Stature and Developmental Delay 32
729 MLT035 Multifocal Choroiditis 32
730 PPC001 Pepck 1 Deficiency 32
731 PNC059 Punctate Inner Choroidopathy 32
732 SCL025 Scleromyxedema 32
733 P SPN202 Spinocerebellar Ataxia, X-Linked 1 32
734 c CNG188 Congenital Disorder of Glycosylation, Type if 32
735 c CLR106 Ciliary Dyskinesia, Primary, 26 32
736 HSH004 Hashimoto Encephalopathy 32
737 c PRM316 Primary Congenital Hypothyroidism 32
738 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 32
739 WLD005 Wild Type Attr Amyloidosis 32
740 THM005 Thumb Deformity 32
741 ALP048 Alopecia Totalis 32
742 HGH041 High-Grade Astrocytoma 32
743 P KNB001 Knobloch Syndrome 32
744 DYS198 Dystonia, Focal, Task-Specific 32
745 c GLC083 Glaucoma 3, Primary Infantile, B 32
746 c CTR185 Cataract 30 32
747 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 32
748 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 32
749 MYC014 Mycobacterium Chelonae 31
750 ISL011 Isolated Aniridia 31
751 RMN001 Rumination Disorder 31
752 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
753 c ANG045 Angioedema, Hereditary, Type Iii 31
754 ASH001 Asherman's Syndrome 31
755 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
756 c ATS015 Autosomal Dominant Alport Syndrome 31
757 CYT004 Cytomegalic Inclusion Disease 31
758 PNT003 Pinta Disease 31
759 c ANT083 Anterior Segment Dysgenesis 7 31
760 ATR048 Atrial Tachyarrhythmia with Short Pr Interval 31
761 DRF001 Dirofilariasis 31
762 c BRG012 Brugada Syndrome 9 31
763 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 31
764 MYP097 Myopathy with Lactic Acidosis, Hereditary 31
765 c JVN034 Juvenile Polyposis of Infancy 31
766 INT104 Intravascular Papillary Endothelial Hyperplasia 31
767 EXN003 Exencephaly 31
768 c EPL188 Epilepsy, Progressive Myoclonic, 10 31
769 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
770 P HRD209 Hereditary Angioedema with Normal C1inh 31
771 ISL061 Isolated Brachycephaly 31
772 c CTR102 Cataract 2, Multiple Types 31
773 c SVR040 Severe Congenital Nemaline Myopathy 31
774 c RNG008 Ring Chromosome 13 31
775 P HRT017 Heart Tumor 31
776 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 31
777 ODN006 Odontoma 31
778 TBL008 Tibial Hemimelia 31
779 SPS016 Spasmodic Dysphonia 31
780 c CNG478 Congenital Diarrhea 31
781 P ACT241 Acute Bilirubin Encephalopathy 31
782 ATY016 Atypical Werner Syndrome 31
783 CBB005 Cobblestone Lissencephaly 31
784 DYS001 Dyskinetic Cerebral Palsy 31
785 c CTR097 Cataract 34, Multiple Types 31
786 c DMN006 Diamond-Blackfan Anemia 3 31
787 MXD032 Mixed Germ Cell Tumor 31
788 STT009 Sutton Disease 2 30
789 c HRD198 Hereditary Dystonia 30
790 RST024 Rosette-Forming Glioneuronal Tumor 30
791 P CHR084 Chromosomal Disease 30
792 c EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 30
793 DFF031 Diffuse Alveolar Hemorrhage 30
794 SGR001 Sugarman Brachydactyly 30
795 GRN033 Granulomatous Mastitis 30
796 GRN004 Granulomatous Amebic Encephalitis 30
797 SNG003 Single Ventricular Heart 30
798 MCL018 Macular Dystrophy, Concentric Annular 30
799 WRF003 Warfarin Syndrome 30
800 TTR014 Tetrasomy 18p 30
801 c BNG001 Benign Peritoneal Mesothelioma 30
802 CHL078 Childhood-Onset Schizophrenia 30
803 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 30
804 c JVN038 Juvenile Myasthenia Gravis 30
805 MTR087 Maternal Uniparental Disomy 30
806 c RNG018 Ring Chromosome 22 30
807 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 30
808 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
809 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 30
810 CHR582 Chromosome 3q29 Duplication Syndrome 30
811 TTR012 Tetrasomy 9p 30
812 c ICH023 Ichthyosis, Acquired 30
813 c SNG011 Singleton-Merten Syndrome 1 30
814 CLF049 Cleft Lip and Alveolus 30
815 ELS002 Elastosis Perforans Serpiginosa 30
816 SLR005 Solar Urticaria 30
817 MYP064 Myopericytoma 30
818 CMB044 Combined Oxidative Phosphorylation Deficiency 14 30
819 LMB010 Lambert Syndrome 30
820 P SNG014 Singleton-Merten Syndrome 30
821 RSP007 Respiratory Distress Syndrome, Infant 30
822 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 30
823 c SPS021 Spastic Paraplegia 10 30
824 CHR487 Chromosome 8q21.11 Deletion Syndrome 30
825 ENG004 Engraftment Syndrome 30
826 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 30
827 IDP041 Idiopathic Recurrent Pericarditis 30
828 QLT008 Qualitative or Quantitative Defects of Dysferlin 30
829 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 30
830 HYP021 Hypercementosis 30
831 PRC051 Paracetamol Poisoning 30
832 GNT019 Giant Cell Myocarditis 30
833 NTR036 Neutropenia, Severe Congenital, X-Linked 30
834 PTT063 Pattern Dystrophy 29
835 CHR524 Chromosome 16p13.3 Duplication Syndrome 29
836 P VTR008 Vitreoretinal Degeneration 29
837 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 29
838 c HYP515 Hypotrichosis 3 29
839 ACT228 Acute Radiation Syndrome 29
840 c EPL155 Epilepsy, Progressive Myoclonic, 8 29
841 DFF004 Diffuse Peritoneal Leiomyomatosis 29
842 CPP003 Cap Polyposis 29
843 c RTN067 Retinitis Pigmentosa 41 29
844 c CLR116 Ciliary Dyskinesia, Primary, 29 29
845 c CTR175 Cataract 24 29
846 c WRD010 Waardenburg Syndrome Type 4 29
847 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 29
848 c CLR069 Ciliary Dyskinesia, Primary, 8 29
849 c NML024 Nemaline Myopathy 11, Autosomal Recessive 29
850 DYS030 Dysferlinopathy 29
851 OCC011 Occipital Encephalocele 29
852 CLC010 Calcifying Epithelial Odontogenic Tumor 29
853 LPG001 Lipogranulomatosis 29
854 c RNG005 Ring Chromosome 10 29
855 RHM015 Rhombencephalosynapsis 29
856 OVR097 Ovarian Fibrothecoma 29
857 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
858 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
859 c CLR067 Ciliary Dyskinesia, Primary, 4 29
860 CHR270 Chromosome 9p Duplication 29
861 NNH013 Non-Histaminic Angioedema 29
862 MYC019 Mycobacterium Marinum 29
863 FLL042 Folliculotropic Mycosis Fungoides 29
864 SCR024 Sacrococcygeal Teratoma 29
865 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 29
866 WLL012 Williams-Beuren Region Duplication Syndrome 29
867 c CLR134 Ciliary Dyskinesia, Primary, 3 29
868 ART030 Aortic Arch Interruption 29
869 PST092 Posttransplant Acute Limbic Encephalitis 29
870 c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 29
871 FRS007 Frias Syndrome 29
872 c LYM151 Lymphoproliferative Syndrome 3 29
873 c BRN128 Branchiootic Syndrome 3 29
874 P PRG139 Progeroid Syndrome 28
875 CRN051 Craniofacial Microsomia 28
876 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 28
877 c RTN068 Retinitis Pigmentosa 6 28
878 PSD046 Pseudotrisomy 13 Syndrome 28
879 KRB005 Krabbe Disease, Atypical, Due to Saposin a Deficiency 28
880 c SLV028 Silver-Russell Syndrome 3 28
881 c EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 28
882 c EPL154 Epilepsy, Progressive Myoclonic, 9 28
883 HMC012 Hemicrania Continua 28
884 c ERL003 Early Onset Absence Epilepsy 28
885 c PRK083 Parkinson Disease 22, Autosomal Dominant 28
886 CHR379 Chromosome 15q26-Qter Deletion Syndrome 28
887 c RNG022 Ring Chromosome 6 28
888 c CTR121 Cataract 25 28
889 c MCL070 Macular Dystrophy, Patterned, 3 28
890 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 28
891 P CRN249 Cornea Plana 28
892 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 28
893 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
894 IDP034 Idiopathic Central Precocious Puberty 28
895 c EPL207 Epilepsy, Progressive Myoclonic, 1b 28
896 c DRR018 Diarrhea 9 28
897 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
898 c SPS091 Spastic Paraplegia 4 28
899 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 28
900 c CLR102 Ciliary Dyskinesia, Primary, 17 28
901 TRC110 Tracheobronchial Stenosis, Congenital 28
902 c FRN032 Frontonasal Dysplasia 3 28
903 LPD001 Lipid Pneumonia 28
904 c PRK098 Parkinson Disease 5, Autosomal Dominant 28
905 c DNR004 Duane Retraction Syndrome 2 28
906 c PLM121 Pulmonary Hypertension, Primary, 4 28
907 c PSD107 Pseudo-Torch Syndrome 2 28
908 c PRK081 Parkinson Disease 19a, Juvenile-Onset 28
909 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 28
910 ATH004 Athetosis 28
911 BRL001 Brill-Zinsser Disease 28
912 TRP020 Tropical Endomyocardial Fibrosis 28
913 c CTR166 Cataract 33, Multiple Types 28
914 SRN002 Sirenomelia 28
915 c CLR104 Ciliary Dyskinesia, Primary, 15 28
916 PDT027 Pediatric Ulcerative Colitis 28
917 16Q001 16q24.3 Microdeletion Syndrome 28
918 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 28
919 c NML007 Nemaline Myopathy 6 28
920 PTN004 Patent Ductus Venosus 28
921 c PRG140 Progressive Myoclonus Epilepsy 4 28
922 c CTR187 Cataract 48 28
923 CLV004 Calvarial Hyperostosis 28
924 c HML035 Hemolytic Uremic Syndrome, Atypical 2 28
925 c CLR053 Ciliary Dyskinesia, Primary, 11 28
926 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 28
927 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
928 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
929 HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 28
930 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 28
931 c CTR158 Cataract 37 27
932 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 27
933 c EPL134 Epilepsy, Progressive Myoclonic 7 27
934 CTN019 Cutaneous Polyarteritis Nodosa 27
935 KLB004 Klebsiella Infection 27
936 c CLR135 Ciliary Dyskinesia, Primary, 7 27
937 CMB071 Combined Oxidative Phosphorylation Deficiency 27 27
938 P TRS029 Trisomy 1q 27
939 TRC038 Tracheobronchomegaly 27
940 CNG506 Congenital Amyoplasia 27
941 CCN009 Cocaine Intoxication 27
942 c CTR131 Cataract 17, Multiple Types 27
943 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 27
944 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 27
945 BRN055 Bronchogenic Cyst 27
946 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
947 CTR027 Cataract-Glaucoma 27
948 c PRT063 Proteus-Like Syndrome 27
949 P NNT006 Neonatal Myasthenia Gravis 27
950 CNG065 Congenital Contractures 27
951 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 27
952 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
953 c CLR091 Ciliary Dyskinesia, Primary, 14 27
954 FRN022 Frontofacionasal Dysplasia 27
955 CHR190 Chromosome 12p Duplication 27
956 ARG004 Argyria 27
957 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 27
958 c CTR180 Cataract 22, Multiple Types 27
959 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
960 c CTR125 Cataract 7 27
961 c ALT008 Alternating Hemiplegia of Childhood 1 27
962 c RNG007 Ring Chromosome 12 27
963 c TRC073 Treacher Collins Syndrome 2 27
964 NRL008 Neural Crest Tumor 27
965 c TRC071 Treacher Collins Syndrome 3 27
966 STR007 Stress Polycythemia 27
967 CYT018 Cytochrome P450 2d6 Variant 27
968 ANP007 Anaplastic Ganglioglioma 27
969 c RNG010 Ring Chromosome 15 27
970 c HRD220 Hereditary Spastic Paraplegia 30 27
971 MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 27
972 PLS031 Plastic Bronchitis 27
973 CHR209 Chromosome 17p Duplication 27
974 c CTR124 Cataract 10, Multiple Types 27
975 HMX003 Heme Oxygenase 1 Deficiency 27
976 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 27
977 MCR310 Microgastria-Limb Reduction Defects Association 27
978 KCN010 Kcnq2-Related Disorders 27
979 LRY026 Laryngeal Cleft 27
980 c ERL012 Early-Onset Glaucoma 27
981 PRM050 Primary Orthostatic Tremor 27
982 THR032 Thoracolaryngopelvic Dysplasia 27
983 END051 Endolymphatic Sac Tumor 27
984 P CRY006 Cryofibrinogenemia 27
985 DPH012 Diphallia 27
986 P IDP090 Idiopathic Eosinophilic Pneumonia 27
987 ACR099 Acrofacial Dysostosis, Catania Type 27
988 PSD026 Pseudoainhum 27
989 LDD006 Ledderhose Disease 27
990 c CLR123 Ciliary Dyskinesia, Primary, 37 27
991 FXC001 Foix Chavany Marie Syndrome 27
992 RFR007 Refractory Anemia with Excess Blasts in Transformation 27
993 CRL001 Cerulean Cataract 27
994 IGG014 Igg4-Related Sclerosing Cholangitis 26
995 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 26
996 OCL030 Oculoauriculofrontonasal Syndrome 26
997 c HYP528 Hypotrichosis 11 26
998 MST020 Mast Cell Activation Syndrome 26
999 HMC001 Homocarnosinosis 26
1000 c LM2001 Lama2-Related Muscular Dystrophy 26
1001 c RNG015 Ring Chromosome 2 26
1002 P MCL035 Macular Dystrophy, Retinal, 2 26
1003 CMP093 Complement Component 8 Deficiency, Type I 26
1004 STR033 Storm Syndrome 26
1005 c RNG024 Ring Chromosome 8 26
1006 c BRT039 Baraitser-Winter Syndrome 2 26
1007 c SYS066 Systemic Polyarteritis Nodosa 26
1008 THY098 Thyroid Ectopia 26
1009 HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 26
1010 SRC011 Sarcocystosis 26
1011 MCR302 Macrostomia, Isolated 26
1012 DFC001 Defective Apolipoprotein B-100 26
1013 c PRG147 Progressive Myoclonus Epilepsy 8 26
1014 CMP035 Complete Atrioventricular Canal 26
1015 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
1016 c ALT007 Alternating Hemiplegia of Childhood 2 26
1017 c NNP011 Nanophthalmos 2 26
1018 DVL022 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 26
1019 MYC018 Mycobacterium Malmoense 26
1020 IGP001 Iga Pemphigus 26
1021 P SPS012 Spastic Paraplegia 3a 26
1022 P PST016 Posterior Polar Cataract 26
1023 CTR014 Cataract Microcornea Syndrome 26
1024 ACT094 Acute Articular Rheumatism 26
1025 c JVN015 Juvenile Huntington Disease 26
1026 c RTN065 Retinitis Pigmentosa 36 26
1027 P PLM069 Pulmonary Venous Return Anomaly 26
1028 P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 26
1029 c MLG145 Malignant Epithelioid Hemangioendothelioma 26
1030 c CLR097 Ciliary Dyskinesia, Primary, 23 26
1031 c PK3004 Pik3ca-Related Overgrowth Spectrum 26
1032 SPC030 Specific Language Disorder 26
1033 CHR248 Chromosome 4p Duplication 26
1034 P MCR327 Microcephaly, Short Stature, and Limb Abnormalities 26
1035 c CLR125 Ciliary Dyskinesia, Primary, 33 26
1036 ETH012 Ethylene Glycol Poisoning 26
1037 SDH011 Sedoheptulokinase Deficiency 26
1038 PRQ002 Paraquat Poisoning 26
1039 APR009 Aprosencephaly Syndrome 26
1040 c MTC014 Mitochondrial Dna Deletion Syndromes 26
1041 c HML034 Hemolytic Uremic Syndrome, Atypical 3 26
1042 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 26
1043 c CLR114 Ciliary Dyskinesia, Primary, 30 26
1044 c BRG010 Brugada Syndrome 8 26
1045 PRT085 Peritoneal Cystic Mesothelioma 26
1046 PNS015 Penoscrotal Transposition 26
1047 FBR028 Fibrosing Mediastinitis 26
1048 TCK002 Tick Paralysis 26
1049 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
1050 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
1051 c ADL080 Adult Acute Respiratory Distress Syndrome 26
1052 c CLR094 Ciliary Dyskinesia, Primary, 28 26
1053 P VCT008 Vacterl with Hydrocephalus 26
1054 CRN266 Craniofacial Dyssynostosis with Short Stature 26
1055 c MNS008 Monosomy 21 26
1056 c CHL114 Chilblain Lupus 2 26
1057 CNG357 Congenital Symblepharon 25
1058 CRY010 Cryptophthalmos 25
1059 c HML037 Hemolytic Uremic Syndrome, Atypical 5 25
1060 c SPS092 Spastic Paraplegia 11 25
1061 c CTR182 Cataract 23, Multiple Types 25
1062 P HRD207 Hereditary Transthyretin Amyloidosis 25
1063 P FML337 Familial Chilblain Lupus 25
1064 STC018 Stac3 Disorder 25
1065 c HML032 Hemolytic Uremic Syndrome, Atypical 4 25
1066 XNT002 Xanthogranulomatous Cholecystitis 25
1067 SND005 Sandifer Syndrome 25
1068 ATS301 Autosomal Dominant Epilepsy with Auditory Features 25
1069 ULN023 Ulnar Hypoplasia 25
1070 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
1071 MCR326 Microcephaly-Micromelia Syndrome 25
1072 c CHR026 Charcot-Marie-Tooth Disease Type X 25
1073 c CHR565 Chromosomal Deletion Syndrome 25
1074 OLG014 Oligocone Trichromacy 25
1075 THY042 Thymic Epithelial Tumor 25
1076 PRX086 Paroxysmal Exertion-Induced Dyskinesia 25
1077 c SPS013 Spastic Paraplegia 8 25
1078 CHR266 Chromosome 8p23.1 Deletion 25
1079 CHR366 Chromosome 5p13 Duplication Syndrome 25
1080 EXR007 Exercise-Induced Anaphylaxis 25
1081 c CTR116 Cataract 15, Multiple Types 25
1082 DRM043 Dermochondrocorneal Dystrophy 25
1083 c TRS012 Trisomy 22 25
1084 CHR167 Chorioretinal Atrophy, Progressive Bifocal 25
1085 c WSK002 Wiskott-Aldrich Syndrome 2 25
1086 c CLR092 Ciliary Dyskinesia, Primary, 18 25
1087 c HML036 Hemolytic Uremic Syndrome, Atypical 6 25
1088 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 25
1089 HRP008 Herpes Simiae 25
1090 MYC001 Myoclonic Cerebellar Dyssynergia 25
1091 DSS025 Dissociative Seizures 25
1092 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 25
1093 ADG002 Audiogenic Seizures 25
1094 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 25
1095 RNG030 Ringed Hair 25
1096 c CTR165 Cataract 19, Multiple Types 25
1097 TTR027 Tetrasomy 15q26 25
1098 HSB001 His Bundle Tachycardia 25
1099 c GLC054 Glaucoma 3, Primary Congenital, D 25
1100 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
1101 NNT021 Neonatal Meningitis 25
1102 P SYN064 Syndromic X-Linked Intellectual Disability 25
1103 c JVN058 Juvenile-Onset Parkinson's Disease 25
1104 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 25
1105 c TRN053 Transient Pseudohypoaldosteronism 25
1106 CHR704 Chromosome 16p11.2 Deletion Syndrome 25
1107 c PRK096 Parkinson Disease 13, Autosomal Dominant 25
1108 c CLR140 Ciliary Dyskinesia, Primary, 40 25
1109 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1110 SCD003 Scedosporiosis 25
1111 WLD006 Wild Type Abeta2m Amyloidosis 25
1112 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 25
1113 PLM061 Pulmonary Edema of Mountaineers 25
1114 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
1115 c CTR105 Cataract 12, Multiple Types 25
1116 c CLR098 Ciliary Dyskinesia, Primary, 27 25
1117 BRT037 Brittle Diabetes 25
1118 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
1119 PLY110 Polymicrogyria, Bilateral Temporooccipital 25
1120 c CLR117 Ciliary Dyskinesia, Primary, 32 25
1121 c CLR068 Ciliary Dyskinesia, Primary, 5 25
1122 FBR085 Fibrillary Glomerulonephritis 24
1123 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 24
1124 48X002 48,xxxy Syndrome 24
1125 c TRS025 Torsion Dystonia 2 24
1126 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 24
1127 c HRD186 Hereditary Spastic Paraplegia 51 24
1128 UND004 Undetermined Colitis 24
1129 c RNG017 Ring Chromosome 21 24
1130 P KRT014 Keratosis Follicularis Spinulosa Decalvans 24
1131 SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 24
1132 FNC050 Functioning Gonadotropic Adenoma 24
1133 c WLL038 Weill-Marchesani Syndrome 3 24
1134 c VND004 Van Der Woude Syndrome 2 24
1135 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
1136 CNG418 Congenital Intrauterine Infection-Like Syndrome 24
1137 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1138 c CLR099 Ciliary Dyskinesia, Primary, 16 24
1139 c BRG009 Brugada Syndrome 7 24
1140 HMP028 Hemophagocytic Syndrome Associated with an Infection 24
1141 c RTN032 Retinal Cone Dystrophy 1 24
1142 ERY023 Erythroplakia 24
1143 NN2002 Non 24 Hour Sleep Wake Disorder 24
1144 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 24
1145 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
1146 CHR369 Chromosome Xq28 Duplication Syndrome 24
1147 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 24
1148 c CRN280 Cornea Plana 2, Autosomal Recessive 24
1149 c MLT094 Multiple Sclerosis 3 24
1150 c CLR090 Ciliary Dyskinesia, Primary, 22 24
1151 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 24
1152 ISL135 Isolated Dystonia 24
1153 c CLR105 Ciliary Dyskinesia, Primary, 20 24
1154 CYN003 Cyanide Poisoning 24
1155 c MYM003 Moyamoya Disease 5 24
1156 MYP114 Myopathy, Scapulohumeroperoneal 24
1157 c ANT010 Anterior Compartment Syndrome 24
1158 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 24
1159 c RTN061 Retinitis Pigmentosa 32 24
1160 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 24
1161 c RNG013 Ring Chromosome 18 24
1162 AXL004 Axial Mesodermal Dysplasia Spectrum 24
1163 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 24
1164 CLC053 Colchicine Poisoning 24
1165 c ATM067 Autoimmune Polyendocrinopathy Type 3 24
1166 P UNP013 Uniparental Disomy of Chromosome 1 24
1167 SCH055 Schilbach-Rott Syndrome 24
1168 c CLR139 Ciliary Dyskinesia, Primary, 39 24
1169 HYP181 Hypertrichosis Lanuginosa, Acquired 24
1170 CMB065 Combined Oxidative Phosphorylation Deficiency 26 24
1171 c RST020 Restless Legs Syndrome 6 24
1172 c INS009 Insulin-Resistance Type B 24
1173 ACT120 Acute Zonal Occult Outer Retinopathy 24
1174 GRD004 Gardner-Diamond Syndrome 24
1175 SNK001 Snakebite Envenomation 24
1176 DRG016 Drug Induced Dyskinesia 24
1177 P PHC014 Phocomelia 24
1178 MRN005 Marie Unna Congenital Hypotrichosis 24
1179 LCH008 Lichen Planus Pigmentosus 24
1180 c ALP039 Alopecia Areata 1 24
1181 KR001 Koro 24
1182 c DYS068 Dystonia 7, Torsion 24
1183 c RTN051 Retinitis Pigmentosa 22 24
1184 ART037 Arthrogryposis and Ectodermal Dysplasia 24
1185 NNT018 Neonatal Herpes 24
1186 CMP041 Complement Factor D Deficiency 24
1187 HYP144 Hyperacusis 23
1188 ELC001 Elective Mutism 23
1189 TRG006 Trigger Thumb 23
1190 HYP213 Hypomelanotic Disorder 23
1191 c SPS039 Spastic Paraplegia 5a 23
1192 c ALP099 Alopecia, Congenital 23
1193 c ATS432 Autosomal Dominant Distal Myopathy 23
1194 c CTR110 Cataract 26, Multiple Types 23
1195 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 23
1196 c CLR054 Ciliary Dyskinesia, Primary, 12 23
1197 P STR035 Streptococcal Group a Invasive Disease 23
1198 c SPS025 Spastic Paraplegia 15 23
1199 c CLR138 Ciliary Dyskinesia, Primary, 38 23
1200 c FCL056 Facial Paresis, Hereditary Congenital, 3 23
1201 HRL002 Harlequin Syndrome 23
1202 CHR208 Chromosome 17p Deletion 23
1203 c SYN088 Synpolydactyly 2 23
1204 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 23
1205 NPH027 Nipah Virus Encephalitis 23
1206 c ADL068 Adult-Onset Nemaline Myopathy 23
1207 CLC064 Calcifying Aponeurotic Fibroma 23
1208 c MLT093 Multiple Sclerosis 2 23
1209 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 23
1210 c CNG100 Congenital Herpes Simplex 23
1211 c MTP014 Metaphyseal Anadysplasia 2 23
1212 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 23
1213 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
1214 TRC037 Tracheobronchomalacia 23
1215 PRP090 Peripheral Dysostosis 23
1216 AML005 Amelogenesis Imperfecta Hypomaturation Type 23
1217 c CTR136 Cataract 41 23
1218 RTR012 Retroperitoneal Liposarcoma 23
1219 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 23
1220 c MCL071 Macular Dystrophy, Patterned, 2 23
1221 ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 23
1222 EPL011 Epilepsy, Benign Occipital 23
1223 PNC012 Punctate Epithelial Keratoconjunctivitis 23
1224 PTR034 Paternal Uniparental Disomy 23
1225 c DYS138 Dystonia 21 23
1226 c CLR101 Ciliary Dyskinesia, Primary, 25 23
1227 c CTR162 Cataract 47 23
1228 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 23
1229 c MYP116 Myopathy, Distal, 5 23
1230 c CTR157 Cataract 28 23
1231 c CLR107 Ciliary Dyskinesia, Primary, 24 23
1232 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 23
1233 c RNG021 Ring Chromosome 5 23
1234 DMD001 Demodicidosis 23
1235 CNG092 Congenital Extrahepatic Portosystemic Shunt 23
1236 PST040 Posterior Column Ataxia 23
1237 c HRD188 Hereditary Spastic Paraplegia 72 23
1238 DSM006 Desmoplastic Infantile Ganglioglioma 23
1239 DBL004 Double Discordia 23
1240 c SPS036 Spastic Paraplegia 3 23
1241 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 23
1242 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 23
1243 c TRN047 Transient Congenital Hypothyroidism 23
1244 CMP017 Camptocormism 23
1245 GYN003 Gynandroblastoma 23
1246 P ERL043 Early-Onset Nuclear Cataract 23
1247 DPS001 Dipsogenic Diabetes Insipidus 23
1248 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1249 RDL022 Radial Hemimelia 23
1250 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 22
1251 SDD004 Sudden Arrhythmia Death Syndrome 22
1252 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
1253 c SPS027 Spastic Paraplegia 17 22
1254 MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 22
1255 c CLR142 Ciliary Dyskinesia, Primary, 42 22
1256 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
1257 TBS009 Teebi-Shaltout Syndrome 22
1258 ISL116 Isolated Complex Iii Deficiency 22
1259 P PLM064 Pulmonary Sequestration 22
1260 c CLR144 Ciliary Dyskinesia, Primary, 44 22
1261 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1262 P TRC034 Torch Syndrome 22
1263 DPR014 Diprosopus 22
1264 c MYC085 Myoclonic Epilepsy, Juvenile 3 22
1265 INT093 Interferon Gamma, Receptor 1, Deficiency 22
1266 c SCN051 Secondary Pulmonary Alveolar Proteinosis 22
1267 PSD043 Pseudopelade of Brocq 22
1268 TTR016 Tetra-Amelia Syndrome 22
1269 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1270 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1271 CHR247 Chromosome 4p Deletion 22
1272 HVY002 Heavy Metal Poisoning 22
1273 GLC001 Glaucomatocyclitic Crisis 22
1274 c HRD210 Hereditary Spastic Paraplegia 23 22
1275 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1276 VBR003 Vibrio Vulnificus Infection 22
1277 ADS015 Aids Wasting Syndrome 22
1278 ART109 Arterial Thoracic Outlet Syndrome 22
1279 NCL007 Nuclear Gene-Encoded Leigh Syndrome 22
1280 MNC020 Monoclonal Mast Cell Activation Syndrome 22
1281 c ICH014 Ichthyosis Lamellar 1 22
1282 PLR025 Pleuroparenchymal Fibroelastosis 22
1283 SDN002 Sudanophilic Cerebral Sclerosis 22
1284 ATR017 Atrial Septal Defect Coronary Sinus 22
1285 P PTT054 Patterned Macular Dystrophy 22
1286 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
1287 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 22
1288 c CTR169 Cataract 29 22
1289 P RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 22
1290 JMP002 Jumping Frenchmen of Maine 22
1291 PRL021 Perilymphatic Fistula 22
1292 c CTR184 Cataract 39, Multiple Types 22
1293 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 22
1294 PST047 Post-Traumatic Epilepsy 22
1295 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1296 PRP101 Peripheral Pulmonary Stenosis 22
1297 ACR107 Acrofacial Dysostosis, Palagonia Type 22
1298 LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 22
1299 RFS003 Refsum Disease, Infantile Form 22
1300 LRY028 Laryngocele 22
1301 GLY054 Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency 22
1302 PSD050 Pseudoxanthoma Elasticum, Forme Fruste 22
1303 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 22
1304 c RNG019 Ring Chromosome 3 22
1305 HTR005 Heterochromia Iridis 22
1306 HML018 Homologous Wasting Disease 22
1307 P RTN220 Retinal Ciliopathy 22
1308 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
1309 c DYS039 Dyskeratosis Congenita Autosomal Dominant 21
1310 c NNP012 Nanophthalmos 4 21
1311 6QT002 6q Terminal Deletion Syndrome 21
1312 PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 21
1313 FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 21
1314 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
1315 c HRN024 Horner Syndrome, Congenital 21
1316 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
1317 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 21
1318 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 21
1319 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
1320 GRW021 Growing Teratoma Syndrome 21
1321 PRD026 Pre-Descemet Corneal Dystrophy 21
1322 SPS006 Spastic Monoplegia 21
1323 c SCN048 Secondary Syringomyelia 21
1324 KRT020 Keratoconus Posticus Circumscriptus 21
1325 NWD001 New Daily-Persistent Headache 21
1326 ERY043 Euryblepharon 21
1327 NWN001 New-Onset Refractory Status Epilepticus 21
1328 c MTC182 Mitochondrial Dna Depletion Syndrome 16 21
1329 P PTR018 Paternal Uniparental Disomy of Chromosome 6 21
1330 GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 21
1331 c ATS209 Autosomal Dominant Secondary Polycythemia 21
1332 ATK002 Atkin-Flaitz Syndrome 21
1333 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 21
1334 c MCL073 Macular Dystrophy, Vitelliform, 1 21
1335 c CHR059 Chronic Endophthalmitis 21
1336 SPS087 Spasmus Nutans 21
1337 ISL084 Isolated Trigonocephaly 21
1338 CGH002 Cough Headache 21
1339 c CLR143 Ciliary Dyskinesia, Primary, 43 21
1340 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1341 HYP642 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 21
1342 NNF008 Non-Functioning Paraganglioma 21
1343 c PSD047 Pseudo-Turner Syndrome 21
1344 c ANR027 Aneurysm, Intracranial Berry, 1 21
1345 c GNS004 Geniospasm 1 21
1346 PLV015 Pelvis-Shoulder Dysplasia 21
1347 c ANT087 Anterior Segment Dysgenesis 6 21
1348 BNT001 Banti's Syndrome 21
1349 c PRG142 Progressive Myoclonus Epilepsy 3 21
1350 c ART159 Aortic Valve Disease 3 21
1351 c CTR106 Cataract 20, Multiple Types 21
1352 13Q001 13q12.3 Microdeletion Syndrome 21
1353 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21
1354 c SNG012 Singleton-Merten Syndrome 2 21
1355 c MLT124 Multiple Sclerosis 5 21
1356 P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 21
1357 c SPS233 Spastic Ataxia 9, Autosomal Recessive 21
1358 CHR567 Chromosome 5q12 Deletion Syndrome 21
1359 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 21
1360 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1361 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 21
1362 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
1363 c PRS058 Prosopagnosia, Hereditary 21
1364 SYN120 Syndromic Oculocutaneous Albinism 21
1365 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 21
1366 BLL015 Bullous Lichen Planus 21
1367 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 21
1368 MRF007 Marfanoid Hypermobility Syndrome 21
1369 VRV001 Ververi-Brady Syndrome 21
1370 PLY039 Polymorphic Reticulosis 21
1371 TLN007 Telangiectasia, Hereditary Benign 21
1372 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 21
1373 MYC016 Mycobacterium Gordonae 21
1374 c NNP017 Nanophthalmos 1 21
1375 MYP060 Myopic Macular Degeneration 21
1376 c FBR079 Fibromatosis, Gingival, 2 21
1377 c CNG617 Congenital Disorder of Glycosylation, Type Iit 21
1378 CRN156 Craniofacioskeletal Syndrome 21
1379 c MCL061 Macular Dystrophy, Vitelliform, 4 21
1380 PTY005 Pityriasis Lichenoides Chronica 21
1381 ACH039 Achalasia-Microcephaly Syndrome 21
1382 NDD001 Nodding Syndrome 21
1383 AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 20
1384 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 20
1385 c ADL084 Adult-Onset Myasthenia Gravis 20
1386 CRY024 Crystal Arthropathies 20
1387 P SPN237 Spina Bifida Aperta 20
1388 MYC021 Mycobacterium Xenopi 20
1389 CGT001 Ciguatera Fish Poisoning 20
1390 MRZ001 Mirizzi Syndrome 20
1391 QLT002 Qualitative or Quantitative Defects of Dystrophin 20
1392 CRT060 Cor Triatriatum Sinister 20
1393 P CTS012 Cutis Verticis Gyrata 20
1394 CMP039 Camptodactyly 1 20
1395 LPS019 Lupus Erythematosus Tumidus 20
1396 RCK009 Rickettsial Disease 20
1397 c MCL056 Macular Dystrophy, Vitelliform, 5 20
1398 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 20
1399 MTR027 Mitral Atresia 20
1400 PRM157 Primary Progressive Freezing Gait 20
1401 c CHR549 Charcot-Marie-Tooth Disease Type 2l 20
1402 c CHR692 Chronic Encephalitis 20
1403 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1404 c BRN073 Branchiootic Syndrome 2 20
1405 c GLC089 Glaucoma 3, Primary Congenital, E 20
1406 c HYP573 Hypotrichosis 5 20
1407 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
1408 UNL013 Unilateral Absence of a Pulmonary Artery 20
1409 c CTR159 Cataract 35 20
1410 CHR416 Chromosome 17q Deletion 20
1411 FBR087 Fibromatosis, Gingival, with Distinctive Facies 20
1412 c SPN203 Spinocerebellar Ataxia, X-Linked 5 20
1413 GLC025 Galactorrhoea-Hyperprolactinaemia 20
1414 TRN067 Transcobalamin I Deficiency 20
1415 c BRC105 Brachydactyly, Type A1, D 20
1416 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
1417 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20
1418 FCC003 Faciocardiomelic Dysplasia, Lethal 20
1419 c CTR144 Cataract 43 20
1420 CRB164 Cerebrooculonasal Syndrome 20
1421 TMP006 Temporomandibular Ankylosis 20
1422 NND001 Nondystrophic Myotonia 20
1423 ATY025 Atypical Glycine Encephalopathy 20
1424 RTH002 Rutherfurd Syndrome 20
1425 ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 20
1426 ACT174 Acute Peripheral Arterial Occlusion 20
1427 c NNT025 Neonatal Systemic Lupus Erythematosus 20
1428 P CNG515 Congenital Zika Syndrome 20
1429 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1430 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 20
1431 c RNG025 Ring Chromosome 9 20
1432 CLF021 Cleft Palate X-Linked 20
1433 c MYC086 Myoclonic Epilepsy, Juvenile 4 20
1434 P STR111 Stromal Corneal Dystrophy 20
1435 LVC002 Levocardia 20
1436 c CLR145 Ciliary Dyskinesia, Primary, 45 20
1437 DSS012 Disseminated Infection with Mycobacterium Avium Complex 20
1438 PYT001 Pythiosis 20
1439 FWL003 Fowler Urethral Sphincter Dysfunction Syndrome 20
1440 c PRK022 Parkinson Disease 12 20
1441 c HYP578 Hypotrichosis 12 20
1442 c SPS214 Spastic Ataxia 4 20
1443 DST059 Distal Trisomy 17q 20
1444 CRB155 Carbonic Anhydrase Va Deficiency 20
1445 c CLR141 Ciliary Dyskinesia, Primary, 41 20
1446 c EPS033 Episodic Ataxia, Type 8 20
1447 HYD031 Hydroxyprolinemia 20
1448 HRD090 Harderoporphyria 20
1449 HPS001 Hip Subluxation 20
1450 c CTR139 Cataract 42 20
1451 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 19
1452 MLG087 Malignant Cylindroma 19
1453 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
1454 c HYP832 Hypotrichosis 14 19
1455 MCR330 Microphthalmia, Isolated, with Cataract 1 19
1456 c RNG012 Ring Chromosome 17 19
1457 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 19
1458 MSC017 Mosaic Trisomy 22 19
1459 P CHR200 Chromosome 16 Trisomy 19
1460 EXT063 Extrapelvic Endometriosis 19
1461 THN005 Thunderclap Headache 19
1462 BRC046 Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 19
1463 c INF152 Infectious Posterior Uveitis 19
1464 c SPS041 Spastic Paraplegia 6 19
1465 c ATS454 Autosomal Trisomy 19
1466 VGN031 Vaginal Atresia 19
1467 CHR612 Chromosome 15q14 Deletion Syndrome 19
1468 FRN028 Furunculous Myiasis 19
1469 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 19
1470 c SPS171 Spastic Ataxia 5 19
1471 DYS134 Dysspondyloenchondromatosis 19
1472 c JVN046 Juvenile Polymyositis 19
1473 DHY008 Dihydroxyadeninuria 19
1474 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 19
1475 LVT001 Levator Syndrome 19
1476 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 19
1477 ISL085 Isolated Agammaglobulinemia 19
1478 LNR010 Linear Lichen Planus 19
1479 c CHR686 Chronic Cutaneous Lupus Erythematosus 19
1480 c SPS229 Spastic Ataxia 8 19
1481 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
1482 RTN185 Retinal Dysplasia, Primary 19
1483 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 19
1484 c SLV029 Silver-Russell Syndrome 2 19
1485 HYD050 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 19
1486 LCT008 Lactate Dehydrogenase Deficiency 19
1487 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
1488 AND005 Androgen Insensitivity Syndrome, Mild 19
1489 PHC015 Phacoanaphylactic Uveitis 19
1490 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1491 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 19
1492 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 19
1493 1Q4001 1q44 Microdeletion Syndrome 19
1494 c MTC204 Mitochondrial Dna Depletion Syndrome 18 19
1495 c PRG146 Progressive Myoclonus Epilepsy 9 19
1496 c CTR160 Cataract 45 19
1497 c FBR092 Fibromatosis, Gingival, 5 19
1498 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 19
1499 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1500 c PRG145 Progressive Myoclonus Epilepsy 6 19
1501 EXT061 Extracardiac Rhabdomyoma 19
1502 c CHR227 Chromosome 20 Trisomy 19
1503 16P004 16p13.11 Microduplication Syndrome 19
1504 PSD079 Pseudoangiomatous Stromal Hyperplasia 19
1505 16P003 16p13.11 Microdeletion Syndrome 19
1506 c MLT095 Multiple Sclerosis 4 19
1507 EGL001 Eagle Syndrome 19
1508 c RNG006 Ring Chromosome 11 19
1509 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 19
1510 SMC003 Semicircular Canal Dehiscence Syndrome 19
1511 BDR001 Bidirectional Tachycardia 19
1512 P PRM210 Primary Lipodystrophy 19
1513 EPG004 Epignathus 19
1514 IQS001 Iqsec2 19
1515 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1516 HST018 Histiocytosis, Progressive Mucinous 19
1517 VRR008 Verrucous Hemangioma 19
1518 HVY003 Heavy Chain Deposition Disease 19
1519 MDS024 Mediastinal Endodermal Sinus Tumors 19
1520 c SPN259 Spinocerebellar Ataxia 32 19
1521 LWF001 Low-Flow Priapism 19
1522 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
1523 PCH004 Pachygyria, Frontotemporal 19
1524 CHL084 Cholesterol Pneumonia 19
1525 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 18
1526 HMF007 Hemifacial Hyperplasia with Strabismus 18
1527 c SPS170 Spastic Ataxia 2 18
1528 BRH001 Boerhaave Syndrome 18
1529 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 18
1530 c PRM209 Primary Trimethylaminuria 18
1531 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
1532 P RFR014 Refractory Anemia with Excess Blasts Type 2 18
1533 EDN001 Edinburgh Malformation Syndrome 18
1534 CYT006 Cytoplasmic Body Myopathy 18
1535 c PRM188 Primary Cutis Verticis Gyrata 18
1536 CHR219 Chromosome 19q13.11 Deletion Syndrome 18
1537 QLT009 Qualitative or Quantitative Defects of Caveolin-3 18
1538 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 18
1539 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 18
1540 c UNP012 Uniparental Disomy of Chromosome 7 18
1541 ELS004 Elastofibroma Dorsi 18
1542 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
1543 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 18
1544 17Q009 17q12 Recurrent Deletion Syndrome 18
1545 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 18
1546 c CNG121 Congenital Pulmonary Alveolar Proteinosis 18
1547 c CNG579 Congenital Nemaline Myopathy 18
1548 c MYP158 Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 18
1549 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 18
1550 c CNG615 Congenital Disorder of Glycosylation, Type Iir 18
1551 MLT131 Multifocal Atrial Tachycardia 18
1552 AMY010 Amyloidosis Beta2m 18
1553 CNT088 Central Cloudy Dystrophy of Francois 18
1554 GLC039 Glucosephosphate Isomerase Deficiency 18
1555 c ERL044 Early-Onset Posterior Polar Cataract 18
1556 TRT005 Teratoma with Malignant Transformation 18
1557 LGR001 Laugier-Hunziker Syndrome 18
1558 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1559 TRC052 Trichofolliculoma 18
1560 17Q012 17q24.2 Microdeletion Syndrome 18
1561 HHV001 Hhv-6 Encephalitis 18
1562 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
1563 CCC003 Coccygodynia 18
1564 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 18
1565 LMB056 Lumbosacral Spina Bifida Cystica 18
1566 IGG013 Igg4-Related Pachymeningitis 18
1567 PPL038 Papular Xanthoma 18
1568 LMB057 Lumbosacral Spina Bifida Aperta 18
1569 CTM001 Catamenial Pneumothorax 18
1570 SWY003 Swyer-James Syndrome 18
1571 DYT005 Dyt-Thap1 18
1572 IDP047 Idiopathic Panuveitis 18
1573 ICH025 Ichthyosis, Follicular 18
1574 c TRN062 Transient Neonatal Myasthenia Gravis 18
1575 c CTR178 Cataract 27 18
1576 SYM006 Symmetrical Thalamic Calcifications 18
1577 P WHS002 Whistling Face Syndrome, Recessive Form 18
1578 MTH011 Methionine Adenosyltransferase Deficiency 18
1579 MYX011 Myxozoa 17
1580 P HRD043 Hereditary Congenital Facial Paresis 17
1581 GLM036 Gliomatosis Peritonei 17
1582 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 17
1583 PPL053 Papillomatosis, Florid, of Nipple 17
1584 TYP044 Type 1 Interferonopathy 17
1585 MYS028 Myospherulosis 17
1586 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 17
1587 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 17
1588 7P2001 7p22.1 Microduplication Syndrome 17
1589 c SPS028 Spastic Paraplegia 18 17
1590 ANL019 Anal Sphincter Dysplasia 17
1591 CNG491 Congenital Portosystemic Shunt 17
1592 c ACQ039 Acquired Purpura Fulminans 17
1593 SPR065 Supernumerary Nostril 17
1594 BRC096 Brachydactyly-Distal Symphalangism Syndrome 17
1595 CTN020 Cutaneous Sclerosis 17
1596 MDL024 Madelung Deformity 17
1597 c INF047 Infantile Free Sialic Acid Storage Disease 17
1598 RMT001 Remitting Seronegative Symmetrical Synovitis with Pitting Edema 17
1599 LTN011 Late-Onset Isolated Acth Deficiency 17
1600 c JVN045 Juvenile Ossifying Fibroma 17
1601 c PSD121 Pseudo-Torch Syndrome 3 17
1602 CTN034 Cutaneous Myiasis 17
1603 TRG017 Trigeminal Trophic Syndrome 17
1604 SPR072 Superficial Pemphigus 17
1605 c CHR571 Charcot-Marie-Tooth Disease Type 5 17
1606 c ALP040 Alopecia Areata 2 17
1607 P ATS469 Autosomal Monosomy 17
1608 c SLV031 Silver-Russell Syndrome 5 17
1609 ZBR001 Zebra Body Myopathy 17
1610 TRP010 Treponema Infection 17
1611 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 17
1612 c TTL008 Total Spina Bifida Cystica 17
1613 UPP008 Upper Thoracic Spina Bifida Aperta 17
1614 THR085 Thoracolumbosacral Spina Bifida Aperta 17
1615 DBL010 Double-Orifice Mitral Valve 17
1616 CRN192 Craniorhiny 17
1617 ACR078 Acral Self-Healing Collodion Baby 17
1618 c INH022 Inherited Ichthyosis 17
1619 STN005 St Anthony's Fire 17
1620 3Q2006 3q27.3 Microdeletion Syndrome 17
1621 MSC079 Mosaic Trisomy 1 17
1622 BRC116 Brachial Amelia, Cleft Lip, and Holoprosencephaly 17
1623 c INF055 Infectious Myocarditis 17
1624 BKS002 Book Syndrome 17
1625 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1626 HMR013 Hemorrhagic Proctocolitis 17
1627 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 17
1628 MD1003 Med13l Haploinsufficiency Syndrome 17
1629 BRC100 Brachydactyly, Combined B and E Types 17
1630 CLS032 Clostridium Perfringens Infection 17
1631 ORN004 Ornithinemia 17
1632 c CLS053 Cluster Headache, Familial 17
1633 P NDL017 Nodular Cutaneous Amyloidosis 17
1634 c PRK058 Parkinson Disease 16 17
1635 c PRG141 Progressive Myoclonus Epilepsy 10 17
1636 PNT023 Pontine Hemorrhage 17
1637 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 17
1638 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 17
1639 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 17
1640 c CNG619 Congenital Aplastic Anemia 17
1641 ANT063 Anti-P200 Pemphigoid 17
1642 FCL087 Facial Infiltrating Lipomatosis 17
1643 c PST077 Posterior Meningocele 17
1644 XP2001 Xp22.3 Microdeletion Syndrome 17
1645 PLM108 Pulmonary Interstitial Glycogenosis 17
1646 CRN287 Carnitine Deficiency, Myopathic 17
1647 c LTN017 Late-Infantile/juvenile Krabbe Disease 17
1648 RSM002 Rasmussen Johnsen Thomsen Syndrome 17
1649 PRP069 Purpura Simplex 17
1650 CHR184 Chromosome 10q Duplication 17
1651 CNG609 Congenital Left Ventricular Aneurysm 17
1652 JVN060 Juvenile Idiopathic Inflammatory Myopathy 17
1653 RDT004 Radiation Induced Brachial Plexopathy 17
1654 APD001 Apo a-I Deficiency 17
1655 HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 17
1656 GND015 Gonadal Germ Cell Tumor 17
1657 c MTC200 Mitochondrial Dna Depletion Syndrome 17 17
1658 c PRG148 Progressive Myoclonus Epilepsy 1a 17
1659 c SYN073 Syngap1-Related Intellectual Disability 17
1660 DRL001 Dural Sinus Malformation 16
1661 P CNG600 Congenital Arteriovenous Fistula 16
1662 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 16
1663 c RNG014 Ring Chromosome 19 16
1664 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 16
1665 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 16
1666 EMR002 Emerinopathy 16
1667 CHR257 Chromosome 6q Deletion 16
1668 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1669 c RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 16
1670 ALN006 Alien Hand Syndrome 16
1671 c RNG011 Ring Chromosome 16 16
1672 RDC003 Red Cell Phospholipid Defect with Hemolysis 16
1673 c MCR282 Microcephaly and Chorioretinopathy 1 16
1674 c CNG433 Congenital Cornea Plana 16
1675 TRS010 Trisomy 17 Mosaicism 16
1676 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 16
1677 CNG330 Congenital Megacalycosis 16
1678 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1679 PRX013 Proximal Chromosome 18q Deletion Syndrome 16
1680 c UNP011 Uniparental Disomy of Chromosome 14 16
1681 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
1682 ART091 Aorto-Ventricular Tunnel 16
1683 NND006 Non-Distal Monosomy 20q 16
1684 SLT007 Solitary Rectal Ulcer Syndrome 16
1685 3P2001 3p25.3 Microdeletion Syndrome 16
1686 TYS007 Tyshchenko Syndrome 16
1687 CMM018 Common Mesentery 16
1688 SYR004 Syringobulbia 16
1689 c CTR128 Cataract 33 16
1690 GMB001 Gombo Syndrome 16
1691 SBP005 Subpulmonary Stenosis 16
1692 c MCH014 Machado-Joseph Disease Type 2 16
1693 c PRG143 Progressive Myoclonus Epilepsy 7 16
1694 GLC088 Glaucoma and Sleep Apnea 16
1695 LMB071 Lambotte Syndrome 16
1696 CLF033 Cleft Mitral Valve 16
1697 c SPS163 Spastic Ataxia 3 16
1698 ANT040 Anton's Syndrome 16
1699 THM025 Thumbs, Congenital Clasped 16
1700 PRS110 Persistent Placoid Maculopathy 16
1701 16P008 16p11.2 Duplication 16
1702 8Q1001 8q12 Microduplication Syndrome 16
1703 FRS011 First Branchial Cleft Anomaly 16
1704 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
1705 CRV046 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction 16
1706 ISL118 Isolated Tracheoesophageal Fistula 16
1707 c CNG596 Congenital Ectropion 16
1708 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 16
1709 HYP689 Hypomelia with Mullerian Duct Anomalies 16
1710 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1711 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 16
1712 c EPL186 Epilepsy, Juvenile Myoclonic 9 16
1713 PFF010 Pfeiffer-Palm-Teller Syndrome 16
1714 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 16
1715 TRP023 Triphalangeal Thumbs and Dislocation of Patella 16
1716 KSH003 Kshv Inflammatory Cytokine Syndrome 16
1717 c EPL254 Epilepsy, Progressive Myoclonic, 11 16
1718 LTH004 Lathyrism 16
1719 ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 16
1720 c SPN403 Spinocerebellar Ataxia, X-Linked 2 16
1721 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1722 BRZ001 Brazilian Hemorrhagic Fever 16
1723 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
1724 CRN308 Coronary Arterial Fistula 16
1725 c ZKV002 Zika Virus Congenital Syndrome 16
1726 ACT170 Acute Ackee Fruit Intoxication 16
1727 c SPS023 Spastic Paraplegia 13 16
1728 BSC003 Buschke Lowenstein Tumor 16
1729 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 16
1730 PRP068 Propriospinal Myoclonus 16
1731 HYP727 Hypoglossia with Situs Inversus 16
1732 TRC120 Tricarboxylic Acid Cycle, Defect of 16
1733 c GLC052 Glaucoma 3, Primary Congenital, C 16
1734 DYS053 Dystelephalangy 16
1735 DST035 Distal Trisomy 18q 16
1736 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 16
1737 CHR220 Chromosome 1p Deletion 15
1738 WYR003 Weyers Ulnar Ray/oligodactyly Syndrome 15
1739 LJN002 Lujan Syndrome 15
1740 c MTR067 Maternal Uniparental Disomy of Chromosome 16 15
1741 MSP003 Misophonia 15
1742 GRN021 Granulomatous Rosacea 15
1743 LKT001 Leukotriene C4 Synthase Deficiency 15
1744 c MCL026 Macular Dystrophy, Retinal, 3 15
1745 c HYP551 Hypotrichosis 9 15
1746 c PRR032 Pura-Related Neurodevelopmental Disorders 15
1747 OVR073 Ovarian Remnant Syndrome 15
1748 ISL134 Isolated Craniosynostosis 15
1749 PPL027 Papular Urticaria 15
1750 c KMT002 Kmt2b-Related Dystonia 15
1751 CHR250 Chromosome 4q Duplication 15
1752 c GRV009 Graves Disease 2 15
1753 CTT001 Catatrichy 15
1754 MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 15
1755 XLN223 X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability 15
1756 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1757 CHR263 Chromosome 7q Duplication 15
1758 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
1759 CHS007 Chester Porphyria 15
1760 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 15
1761 TRM021 Tremor, Nystagmus, and Duodenal Ulcer 15
1762 CTN018 Cutaneous Photosensitivity and Colitis, Lethal 15
1763 XLN133 X-Linked Intellectual Disability, Shashi Type 15
1764 MSM003 Mesomelia 15
1765 SPR145 Superficial Fibromatosis 15
1766 c ALP036 Alopecia, Androgenetic, 2 15
1767 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1768 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1769 c HYP544 Hypotrichosis 10 15
1770 DYS038 Dysgnathia Complex 15
1771 PRP033 Properdin Deficiency 15
1772 c RFR015 Refractory Anemia with Excess Blasts Type 1 15
1773 LMB009 Lambdoid Synostosis 15
1774 SHN001 Shone Complex 15
1775 CHR199 Chromosome 15q Duplication 15
1776 VCT002 Vacterl Association with Hydrocephaly, X-Linked 15
1777 ADC008 Adactylia, Unilateral 15
1778 c FBR077 Fibromatosis, Gingival, 3 15
1779 c FBR080 Fibromatosis, Gingival, 4 15
1780 PRT107 Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia 15
1781 CHR238 Chromosome 2p Duplication 15
1782 CHR264 Chromosome 8p Deletion 15
1783 GNT042 Genetic Recurrent Myoglobinuria 15
1784 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
1785 FBR024 Fibrocartilaginous Embolism 15
1786 c SPS042 Spastic Paraplegia 9 15
1787 CHR181 Chromosome 10p Deletion 15
1788 SBM006 Submucosal Cleft Palate 15
1789 CRT056 Carotidynia 15
1790 c CTR176 Cataract, Age-Related Nuclear 15
1791 EXR004 Exertional Headache 15
1792 c FRM005 Frmd7-Related Infantile Nystagmus 15
1793 c RRM002 Rrm2b-Related Mitochondrial Disease 15
1794 ARC024 Aurocephalosyndactyly 15
1795 GRN020 Granulomatous Hypophysitis 15
1796 ARB003 Arbovirosis 15
1797 c UNP008 Uniparental Disomy of Chromosome 15 15
1798 c RNG031 Ring Chromosome Y Syndrome 15
1799 ISL072 Isolated Levocardia 15
1800 c SPN107 Spinocerebellar Ataxia 9 15
1801 ART027 Aorta-Pulmonary Artery Fistula 15
1802 FNG010 Fingerprint Body Myopathy 15
1803 MSC015 Mosaic Trisomy 13 15
1804 CNG248 Congenital Smooth Muscle Hamartoma 15
1805 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 15
1806 DST082 Distal Trisomy 10q 15
1807 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 15
1808 DSM005 Desmoplastic Infantile Astrocytoma 15
1809 INT176 Intraocular Medulloepithelioma 15
1810 CNG067 Congenital Cystic Eye 15
1811 NSP010 Nasopharyngeal Teratoma 15
1812 DBL009 Double Inferior Vena Cava 15
1813 ITR003 Iatrogenic Creutzfeldt-Jakob Disease 15
1814 TRP027 Triphalangeal Thumb, Nonopposable 15
1815 PRS132 Parasomnia, Sleep Bruxism Type 15
1816 c SPS032 Spastic Paraplegia 24 15
1817 IDP043 Idiopathic Uveal Effusion Syndrome 15
1818 CLL035 Collagen Type Iii Glomerulopathy 15
1819 MRG007 Morgellons 15
1820 MYL019 Myeloid Splenomegaly 15
1821 CRD014 Cardiac Diverticulum 15
1822 TRM018 Traumatic Avascular Necrosis 15
1823 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1824 CHR272 Chromosome 9q Duplication 15
1825 HNR001 Heiner Syndrome 15
1826 WHB001 Wahab Syndrome 15
1827 FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 15
1828 ACH040 Achoo Syndrome 15
1829 GLM046 Glomus Vagale Tumor 15
1830 CHR261 Chromosome 7p Duplication 15
1831 P PLM179 Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia 15
1832 c CV3001 Cav3-Related Distal Myopathy 15
1833 HYP497 Hyperphalangy 15
1834 c BCL018 Bcl11a-Related Intellectual Disability 15
1835 PST037 Pasteurella Multocida Infection 14
1836 TRC064 Trochlear Dysplasia 14
1837 PLM062 Pulmonary Hyalinizing Granuloma 14
1838 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 14
1839 RCT024 Reactive Angioendotheliomatosis 14
1840 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
1841 c MYC055 Mycobacterium Tuberculosis 3 14
1842 PRG036 Progressive Transformation of Germinal Centers 14
1843 c UNP007 Uniparental Disomy of Chromosome 6 14
1844 DLT013 Deletion 5q35 14
1845 NNT054 Neonatal Alloimmune Neutropenia 14
1846 CMP079 Complete Septate Uterus 14
1847 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 14
1848 ACR022 Acardia 14
1849 APV001 Aapoaiv Amyloidosis 14
1850 KNS003 Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 14
1851 TBR012 Tuberculous Uveitis 14
1852 MXL011 Maxillofacial Dysostosis 14
1853 PNS014 Penis Agenesis 14
1854 GSB001 Gas Bloat Syndrome 14
1855 P LTH050 Lethal Chondrodysplasia 14
1856 UNC008 Unclassified Myelodysplastic Syndrome 14
1857 c MYC054 Mycobacterium Tuberculosis 2 14
1858 CHR194 Chromosome 13q Duplication 14
1859 NNH006 Non-Herpetic Acute Limbic Encephalitis 14
1860 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1861 IRS009 Iris Hypoplasia with Glaucoma 14
1862 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 14
1863 MSC080 Mosaic Trisomy 12 14
1864 CHR240 Chromosome 2q Duplication 14
1865 ANN013 Annular Atrophic Lichen Planus 14
1866 DGT004 Digitalis Poisoning 14
1867 INT102 Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity 14
1868 MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14
1869 DRT002 Duarte Variant Galactosemia 14
1870 CLF036 Cleft Tongue 14
1871 STR070 Startle Epilepsy 14
1872 DST055 Distal 22q11.2 Microduplication Syndrome 14
1873 BSL013 Basaloid Follicular Hamartoma 14
1874 CHR214 Chromosome 18q Duplication 14
1875 TLN004 Talonavicular Coalition 14
1876 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 14
1877 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
1878 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 14
1879 ITC001 Itch E3 Ubiquitin Ligase Deficiency 14
1880 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
1881 ART130 Arthrogryposis with Hyperkeratosis 14
1882 MYS071 Myasthenia, Limb-Girdle, Autoimmune 14
1883 THR122 Thoracic Malformation 14
1884 CHR196 Chromosome 14q Duplication 14
1885 c ANR028 Aneurysm, Intracranial Berry, 3 14
1886 c ANR050 Aneurysm, Intracranial Berry, 12 14
1887 NCT004 N Acetyltransferase Deficiency 14
1888 CNG472 Congenital Insensitivity to Pain with Severe Intellectual Disability 14
1889 SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 14
1890 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
1891 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 14
1892 CNG120 Congenital Pseudoarthrosis 14
1893 PDT046 Pediatric-Onset Graves Disease 14
1894 GST058 Gestational Diabetes Insipidus 14
1895 ORB018 Orbital Leiomyoma 14
1896 CLS034 Clostridium Septicum Infection 14
1897 PHR010 Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome 14
1898 CHR249 Chromosome 4q Deletion 14
1899 TRC061 Trichostasis Spinulosa 14
1900 CHR207 Chromosome 16q Duplication 14
1901 c SPS038 Spastic Paraplegia 39 14
1902 SCN063 Scn2a Related Disorders 14
1903 CHR256 Chromosome 6p Duplication 14
1904 c BCT018 Bacterial Myositis 14
1905 TRG013 Trigeminal Autonomic Cephalalgia 14
1906 CRY037 Cryptophthalmia 14
1907 GLT037 Gluteal Muscles, Absence of 14
1908 c NNP008 Nanophthalmos 3 14
1909 DPL003 Diploid-Triploid Mosaicism 14
1910 c ANR011 Aneurysm, Intracranial Berry, 2 14
1911 c SLV030 Silver-Russell Syndrome 4 14
1912 ETH013 Euthyroid Graves Orbitopathy 14
1913 AMB005 Amoebiasis Due to Free-Living Amoebae 14
1914 P ICH074 Ichthyosis, Lamellar, Autosomal Dominant 14
1915 c PSD024 Pseudo Pelger-Huet Anomaly 14
1916 ISD002 Isodicentric Chromosome 15 Syndrome 14
1917 LNR012 Linear Verrucous Nevus Syndrome 14
1918 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1919 CHR244 Chromosome 3p Duplication 14
1920 EXG001 Exogenous Ochronosis 14
1921 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1922 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 14
1923 PPL044 Papular Elastorrhexis 14
1924 CHR198 Chromosome 15q Deletion 13
1925 ACC011 Accessory Mitral Valve Tissue 13
1926 ISL128 Isolated Microspherophakia 13
1927 JXT004 Juxtaposition of the Atrial Appendages 13
1928 CHR254 Chromosome 5q Duplication 13
1929 CHR468 Chronic Pneumonitis of Infancy 13
1930 LFT005 Left-Sided Gallbladder 13
1931 c ACQ026 Acquired Pseudoxanthoma Elasticum 13
1932 DBS003 Dibasic Amino Aciduria I 13
1933 CHR183 Chromosome 10q Deletion 13
1934 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 13
1935 SHR117 Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms 13
1936 ORB016 Orbital Varix 13
1937 MCR186 Microtriplication 11q24.1 13
1938 PRM153 Primary Progressive Apraxia of Speech 13
1939 FMR007 Femur Bifid with Monodactylous Ectrodactyly 13
1940 URC012 Urachal Sinus 13
1941 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 13
1942 EPL095 Epilepsy with Myoclonic Absences 13
1943 c SPS022 Spastic Paraplegia 12 13
1944 c SPS029 Spastic Paraplegia 19 13
1945 SML040 Smoldering Systemic Mastocytosis 13
1946 c TRN078 Transient Antenatal Bartter Syndrome 13
1947 ANN015 Anonychia with Flexural Pigmentation 13
1948 ONY004 Onychocytic Matricoma 13
1949 SPN414 Spondylometaphyseal Dysplasia, East African Type 13
1950 c DPD002 Depdc5-Related Epilepsy 13
1951 ICH018 Ichthyosis Linearis Circumflexa 13
1952 DYS181 Dyssegmental Dysplasia with Glaucoma 13
1953 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 13
1954 SVR061 Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 13
1955 c MYM005 Moyamoya Disease 3 13
1956 CHR274 Chromosome Xq Duplication 13
1957 c CSK002 Cask-Related Intellectual Disability 13
1958 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 13
1959 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
1960 ACR113 Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma 13
1961 c FCL065 Facial Palsy, Familial Recurrent Peripheral 13
1962 ANN009 Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 13
1963 c RST013 Restless Legs Syndrome 2 13
1964 DYT003 Dyt-Gnal 13
1965 SBP003 Subependymal Nodular Heterotopia 13
1966 CHR192 Chromosome 12q Duplication 13
1967 PST104 Postaxial Oligodactyly, Tetramelic 13
1968 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 13
1969 CRN039 Carnitine Acetyltransferase Deficiency 13
1970 c TRS027 Torsion Dystonia 4 13
1971 CHR271 Chromosome 9q Deletion 13
1972 MGL007 Megalocytic Interstitial Nephritis 13
1973 P MYP124 Myopathy, Distal, Infantile-Onset 13
1974 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 13
1975 PRT237 Partial Deletion of the Long Arm of Chromosome 16 13
1976 c RST014 Restless Legs Syndrome 3 13
1977 DST013 Distal Myopathy with Vocal Cord Weakness 13
1978 HRR003 Herrmann Opitz Craniosynostosis 13
1979 IDP017 Idiopathic Dilatation of the Pulmonary Artery 13
1980 c SPS035 Spastic Paraplegia 29 13
1981 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13
1982 MTS004 Metastatic Insulinoma 13
1983 EXT060 Extragonadal Teratoma 13
1984 SPN435 Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 13
1985 5Q3001 5q35 Microduplication Syndrome 13
1986 c DYS194 Dysautonomia-Like Disorder 13
1987 CMP062 Complication After Organ Transplantation 13
1988 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1989 APR008 Aprosencephaly and Cerebellar Dysgenesis 13
1990 IDP038 Idiopathic Acute Transverse Myelitis 13
1991 ISL036 Isolated Pulmonary Capillaritis 13
1992 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
1993 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 13
1994 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 13
1995 INV015 Invasive Non-Typhoidal Salmonellosis 13
1996 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 13
1997 ATL006 Atlanto-Axial Fusion 13
1998 BLD072 Bleeding Disorder, East Texas Type 13
1999 c ANR022 Aneurysm, Intracranial Berry, 4 13
2000 c ANR029 Aneurysm, Intracranial Berry, 6 13
2001 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 13
2002 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
2003 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 13
2004 BNG042 Benign Multicystic Peritoneal Mesothelioma 13
2005 P ANT062 Anterior Urethral Valve 13
2006 SKD001 Sakoda Complex 13
2007 CHR223 Chromosome 1q Deletion 13
2008 c KLL005 Kallmann Syndrome 3 13
2009 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 13
2010 P HRD194 Hereditary Geniospasm 13
2011 RKT003 Rokitansky-Aschoff Sinuses of the Gallbladder 13
2012 LRY034 Laryngotracheal Angioma 13
2013 MLT168 Multicore Disease 13
2014 MDR001 Medeira-Dennis-Donnai Syndrome 13
2015 c CLD018 Cleidocranial Dysplasia, Recessive Form 13
2016 CHR189 Chromosome 12p Deletion 13
2017 PHC005 Phacomatosis Pigmentokeratotica 13
2018 11P002 11p15.4 Microduplication Syndrome 13
2019 PRT178 Partial Deletion of the Long Arm of Chromosome 5 13
2020 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 13
2021 RWL001 Rowley-Rosenberg Syndrome 13
2022 ASP009 Aspergillus Niger Infection 13
2023 c SPS034 Spastic Paraplegia 26 13
2024 VRB002 Variably Protease-Sensitive Prionopathy 13
2025 ATT023 Attenuated Chediak-Higashi Syndrome 13
2026 c ANR024 Aneurysm, Intracranial Berry, 9 13
2027 c MTR057 Maternal Uniparental Disomy of Chromosome X 13
2028 MYL078 Myelodysplastic Syndrome with Single Lineage Dysplasia 13
2029 MTT008 Mt-Atp6-Related Mitochondrial Spastic Paraplegia 13
2030 TRT022 True Thymic Hyperplasia 13
2031 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 13
2032 PLG007 Pili Gemini 13
2033 LTN022 Late-Onset Distal Myopathy, Markesbery-Griggs Type 13
2034 CHN047 Chondroectodermal Dysplasia with Night Blindness 13
2035 RCN002 Ricin Poisoning 13
2036 GRN042 Granulomatous Lobular Mastitis 13
2037 c VCN001 Vcan-Related Vitreoretinopathy 13
2038 MCR299 Microlissencephaly-Micromelia Syndrome 13
2039 EXS022 Exostosis, Dupuytren Subungual 12
2040 c UNP003 Uniparental Disomy of Chromosome 11 12
2041 CHR197 Chromosome 15, Trisomy Mosaicism 12
2042 BLL014 Bullous Diffuse Cutaneous Mastocytosis 12
2043 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
2044 RBL002 Rubella Panencephalitis 12
2045 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 12
2046 LMY006 Leiomyoma of Vulva and Esophagus 12
2047 CHR258 Chromosome 6q Duplication 12
2048 HLL011 Hall-Riggs Syndrome 12
2049 ERL023 Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation 12
2050 c RST015 Restless Legs Syndrome 4 12
2051 PCR003 Pauciarticular Onset Juvenile Idiopathic Arthritis 12
2052 BWH001 Bow Hunter's Stroke 12
2053 INT300 Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome 12
2054 THR034 Thoracopelvic Dysostosis 12
2055 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
2056 c SCN066 Secondary Erythromelalgia 12
2057 PRV008 Parvovirus Antenatal Infection 12
2058 P CNG326 Congenital Primary Megaureter 12
2059 THS001 Thai Symphalangism Syndrome 12
2060 LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12
2061 c EPL009 Epilepsy Progressive Myoclonic Type 3 12
2062 NND005 Non-Distal Trisomy 13q 12
2063 PRR018 Preauricular Sinus 12
2064 MRV001 Morvan's Fibrillary Chorea 12
2065 XQ1001 Xq12-Q13.3 Duplication Syndrome 12
2066 IDP023 Idiopathic Subglottic Tracheal Stenosis 12
2067 MRF015 Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome 12
2068 IRF001 Irf6-Related Disorders 12
2069 ECT024 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 12
2070 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 12
2071 CLR130 Ciliary Dyskinesia with Defective Radial Spokes 12
2072 c TRS033 Trisomy 18-Like Syndrome 12
2073 CHR556 Chromosome 3q Duplication 12
2074 c SPS033 Spastic Paraplegia 25 12
2075 c SPS161 Spastic Paraplegia 32 12
2076 c ANR026 Aneurysm, Intracranial Berry, 5 12
2077 c ANR023 Aneurysm, Intracranial Berry, 7 12
2078 c ANR030 Aneurysm, Intracranial Berry, 8 12
2079 c CRN068 Corneal Endothelial Dystrophy Type 2 12
2080 LBR027 Laubry-Pezzi Syndrome 12
2081 SPR080 Spirillary Rat-Bite Fever 12
2082 CD4004 Cd4 Deficiency 12
2083 FBR026 Fibromatosis Multiple Non Ossifying 12
2084 ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 12
2085 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 12
2086 GLM017 Glomus Tympanicum Tumor 12
2087 MNN041 Mannose-Binding Lectin Protein Deficiency 12
2088 ANR041 Aniridia-Intellectual Disability Syndrome 12
2089 MSN011 Mesangioproliferative Glomerulopathy 12
2090 LPM011 Lip, Median Nodule of Upper 12
2091 INF059 Infundibulopelvic Dysgenesis 12
2092 SPR028 Spirochetes Disease 12
2093 TRN045 True Unicornuate Uterus 12
2094 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 12
2095 PLM053 Pulmonary Artery Agenesis 12
2096 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 12
2097 CYS035 Cystic Adventitial Disease 12
2098 c PPL045 Papular Mucinosis of Infancy 12
2099 P TRS005 Torsion Dystonia with Onset in Infancy 12
2100 c SPS024 Spastic Paraplegia 14 12
2101 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
2102 NSL021 Nasal Encephalocele 12
2103 c PRG144 Progressive Myoclonus Epilepsy 1b 12
2104 CHR233 Chromosome 21q Deletion 12
2105 c CNG618 Congenital Nystagmus 1 12
2106 CHR195 Chromosome 14q Deletion 12
2107 ISL131 Isolated Foveal Hypoplasia 12
2108 CMP031 Complement Component Deficiency 12
2109 c RST021 Restless Legs Syndrome 5 12
2110 CHR206 Chromosome 16q Deletion 12
2111 GLS016 Glossopalatine Ankylosis 12
2112 NNP018 Non-Paraneoplastic Limbic Encephalitis 12
2113 c KLZ002 Kala-Azar 2 12
2114 c ANR025 Aneurysm, Intracranial Berry, 10 12
2115 c HRD211 Hereditary Dentin Defect 12
2116 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 12
2117 c CNG343 Congenital Coronary Artery Aneurysm 12
2118 LCT018 Lactobezoar 12
2119 RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 12
2120 ART129 Arterial Dissection with Lentiginosis 12
2121 CHR458 Chromosome 9 Inversion 12
2122 RTN201 Retinoschisis, Autosomal Dominant 12
2123 c ATS423 Autosomal Dominant Wolfram Syndrome 12
2124 c INF119 Infantile Mercury Poisoning 12
2125 PRL020 Paralysis Agitans, Juvenile, of Hunt 12
2126 FGS003 Fg Syndrome 3 12
2127