Rare Diseases Category (12863 diseases)


Including: rare
See other categories (disease lists)

# Family MCID Name MIFTS
1 RRN002 Rare Intellectual Disability Without Developmental Anomaly 8
2 P LCH002 Lichen Planus 58
3 c LCH017 Lichen Planus, Familial 12
4 c RRL001 Rare Lichen Planus 6
5 LPD016 Lipoid Proteinosis of Urbach and Wiethe 66
6 PST049 Postaxial Acrofacial Dysostosis 45
7 HTC003 Hutchinson-Gilford Progeria Syndrome 65
8 ALS001 Alstrom Syndrome 57
9 P STS008 Sotos Syndrome 1 54
10 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 45
11 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
12 c STS007 Sotos Syndrome 2 28
13 c XLN227 X-Linked Chondrodysplasia Punctata 1 20
14 c XLN229 X-Linked Chondrodysplasia Punctata 2 20
15 c STS009 Sotos Syndrome 3 19
16 P MSC007 Muscle Hypertrophy 64
17 KRT019 Keratitis, Hereditary 61
18 FDB001 Foodborne Botulism 53
19 c FBR084 Fibromatosis, Gingival, 1 53
20 FCT005 Factor Xiii Deficiency 53
21 P ADM011 Adams-Oliver Syndrome 52
22 P GNG025 Gingival Fibromatosis 50
23 DBW001 Dubowitz Syndrome 46
24 WDM005 Wiedemann-Rautenstrauch Syndrome 44
25 c JBR024 Joubert Syndrome 14 43
26 c JBR015 Joubert Syndrome 6 42
27 c JBR004 Joubert Syndrome 2 40
28 ACR041 Acromelic Frontonasal Dysostosis 40
29 VRT007 Vertical Talus, Congenital 36
30 FMR018 Femoral-Facial Syndrome 35
31 c JBR025 Joubert Syndrome 17 35
32 c JBR041 Joubert Syndrome 3 34
33 P OMD003 Omodysplasia 34
34 DSM002 Desmosterolosis 34
35 P PRK101 Parkinsonism-Dystonia, Infantile, 1 33
36 c JBR012 Joubert Syndrome 5 32
37 c JBR022 Joubert Syndrome 20 32
38 MCP039 Mucoepithelial Dysplasia, Hereditary 30
39 c JBR014 Joubert Syndrome 9 29
40 c ADM007 Adams-Oliver Syndrome 2 29
41 KPP002 Keppen-Lubinsky Syndrome 28
42 NBL001 Nablus Mask-Like Facial Syndrome 28
43 c JBR026 Joubert Syndrome 15 28
44 c JBR016 Joubert Syndrome 10 27
45 c JBR031 Joubert Syndrome 21 27
46 c JBR013 Joubert Syndrome 8 26
47 c JBR018 Joubert Syndrome 4 26
48 c JBR011 Joubert Syndrome 7 26
49 c OMD002 Omodysplasia 2 25
50 c JBR042 Joubert Syndrome 23 25
51 c JBR030 Joubert Syndrome 22 25
52 c JBR037 Joubert Syndrome 26 25
53 c FBR079 Fibromatosis, Gingival, 2 24
54 c JBR035 Joubert Syndrome 24 23
55 c JBR039 Joubert Syndrome 28 23
56 GLT014 Glutathionuria 23
57 c PRK102 Parkinsonism-Dystonia, Infantile, 2 23
58 c JBR021 Joubert Syndrome 18 23
59 c JBR027 Joubert Syndrome 16 22
60 c JBR047 Joubert Syndrome 35 22
61 c JBR040 Joubert Syndrome 30 22
62 c ADM008 Adams-Oliver Syndrome 3 22
63 c JBR043 Joubert Syndrome 32 22
64 c JBR028 Joubert Syndrome 13 22
65 c JBR045 Joubert Syndrome 33 21
66 c JBR036 Joubert Syndrome 25 21
67 c JBR044 Joubert Syndrome 31 21
68 c JBR038 Joubert Syndrome 27 20
69 RRS002 Rare Isolated Myopia 20
70 c MYS010 Myostatin-Related Muscle Hypertrophy 18
71 FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 17
72 c FBR077 Fibromatosis, Gingival, 3 17
73 c FBR092 Fibromatosis, Gingival, 5 16
74 c FBR080 Fibromatosis, Gingival, 4 15
75 RRD006 Rare Idiopathic Male Infertility 4
76 P PRS040 Prostate Cancer 93
77 c SYS001 Systemic Lupus Erythematosus 88
78 MYL069 Myeloma, Multiple 85
79 P ATX030 Ataxia-Telangiectasia 82
80 CYS001 Cystic Fibrosis 82
81 ESP021 Esophageal Cancer 82
82 SQM013 Squamous Cell Carcinoma, Head and Neck 82
83 c LKM061 Leukemia, Acute Myeloid 81
84 P FNC027 Fanconi Anemia, Complementation Group a 81
85 PFF001 Pfeiffer Syndrome 80
86 NRL016 Neural Tube Defects 79
87 P NNN008 Noonan Syndrome 1 78
88 P PLM037 Pulmonary Hypertension 77
89 KPS004 Kaposi Sarcoma 77
90 P SRC025 Sarcoidosis 1 76
91 P PRK057 Parkinson Disease, Late-Onset 76
92 PLY001 Polycythemia Vera 75
93 P NRF023 Neurofibromatosis, Type Ii 75
94 P MLT020 Multiple Sclerosis 75
95 MRF001 Marfan Syndrome 75
96 BHC003 Behcet Syndrome 74
97 c HMC039 Hemochromatosis, Type 1 74
98 PHN003 Phenylketonuria 74
99 NRF026 Neurofibromatosis, Type Iv, of Riccardi 74
100 APL001 Aplastic Anemia 74
101 P MYS003 Myasthenia Gravis 73
102 c LKM063 Leukemia, Chronic Myeloid 73
103 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
104 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 72
105 c HPT073 Hepatitis C Virus 72
106 VNH007 Von Hippel-Lindau Syndrome 72
107 CHG001 Chagas Disease 72
108 c ATM006 Autoimmune Lymphoproliferative Syndrome 72
109 ADR007 Adrenoleukodystrophy 71
110 P HRP006 Herpes Simplex 71
111 KWS002 Kawasaki Disease 71
112 P TRN020 Turner Syndrome 71
113 P AGM001 Agammaglobulinemia 71
114 FBR012 Fabry Disease 71
115 BRC012 Brucellosis 70
116 P ALG028 Alagille Syndrome 1 70
117 P DMN001 Diamond-Blackfan Anemia 70
118 P SPR120 Supranuclear Palsy, Progressive, 1 70
119 c HPT016 Hepatitis B 70
120 MYL009 Myelodysplastic Syndrome 70
121 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
122 P LPS004 Lupus Erythematosus 69
123 P TMP003 Temporal Arteritis 69
124 MYL005 Myelofibrosis 69
125 BRK010 Burkitt Lymphoma 69
126 APR006 Apert Syndrome 69
127 P TYS001 Tay-Sachs Disease 69
128 c HPT001 Hepatitis C 69
129 P WLD002 Waldenstrom Macroglobulinemia 69
130 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 69
131 P FRG001 Fragile X Syndrome 69
132 GRN037 Granulomatosis with Polyangiitis 69
133 P ORT004 Orthostatic Intolerance 69
134 LSH001 Leishmaniasis 69
135 P LKM062 Leukemia, Acute Lymphoblastic 68
136 P ALC004 Alcohol Abuse 68
137 SMT004 Smith-Lemli-Opitz Syndrome 68
138 P PSD087 Pseudoxanthoma Elasticum 68
139 c ATS007 Autism Spectrum Disorder 67
140 P HYD006 Hydrocephalus 67
141 P SYS005 Systemic Scleroderma 67
142 P KRB001 Krabbe Disease 67
143 P HYP098 Hypereosinophilic Syndrome 67
144 TYP007 Typhoid Fever 67
145 P ATS364 Autism 67
146 P DYS007 Dyskeratosis Congenita 67
147 DMN031 Dementia, Lewy Body 67
148 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
149 c FML346 Familial Adenomatous Polyposis 1 67
150 P ASP006 Aspergillosis 66
151 c TBR026 Tuberous Sclerosis 2 66
152 LWC002 Lowe Oculocerebrorenal Syndrome 66
153 P LYN001 Lynch Syndrome 66
154 c MCP050 Mucopolysaccharidosis, Type Ii 66
155 P PRD008 Periodontitis 66
156 TKY002 Takayasu Arteritis 66
157 P GCH001 Gaucher's Disease 66
158 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
159 c CHR417 Chronic Graft Versus Host Disease 66
160 c GLY008 Glycogen Storage Disease Ii 66
161 P KBK002 Kabuki Syndrome 1 66
162 P ALP009 Alopecia Areata 66
163 P LNG028 Long Qt Syndrome 66
164 P SPN046 Spinal Muscular Atrophy 66
165 INC021 Incontinentia Pigmenti 66
166 ADL030 Adult-Onset Still's Disease 65
167 c NNN010 Noonan Syndrome 3 65
168 P CCK001 Cockayne Syndrome 65
169 c GCH015 Gaucher Disease, Type I 65
170 YLL002 Yellow Fever 65
171 STH001 Saethre-Chotzen Syndrome 65
172 MSL001 Measles 65
173 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
174 P THL005 Thalassemia 65
175 P MYP004 Myopathy 64
176 c MCL062 Mucolipidosis Ii Alpha/beta 64
177 P NRM001 Neuromyelitis Optica 64
178 NRR002 Norrie Disease 64
179 P HML033 Hemolytic Uremic Syndrome, Atypical 1 64
180 P AMY004 Amyloidosis 64
181 c LNG044 Long Qt Syndrome 1 64
182 CST001 Costello Syndrome 64
183 ACN002 Acanthosis Nigricans 64
184 P CRD224 Cardiofaciocutaneous Syndrome 1 64
185 CRB011 Cerebrotendinous Xanthomatosis 64
186 P BLD062 Bile Duct Cancer 64
187 c CNG411 Congenital Disorder of Glycosylation, Type in 64
188 c MCP049 Mucopolysaccharidosis, Type Vii 64
189 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
190 P LPR021 Leprosy 3 63
191 c ART101 Aortic Valve Disease 2 63
192 WLL001 Williams-Beuren Syndrome 63
193 INC002 Inclusion Body Myositis 63
194 P CRB048 Cerebral Cavernous Malformations 63
195 SCR008 Scrub Typhus 63
196 LNG108 Langerhans Cell Histiocytosis 63
197 P SHW006 Shwachman-Diamond Syndrome 1 63
198 QFV001 Q Fever 63
199 P CRD132 Cardiac Conduction Defect 63
200 TNG002 Tangier Disease 63
201 PRP083 Porphyria, Acute Intermittent 63
202 P CRN015 Cornelia De Lange Syndrome 63
203 P OVR049 Ovarian Disease 63
204 c ACT074 Acute Lymphocytic Leukemia 63
205 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
206 PMS001 Poems Syndrome 62
207 c ADL017 Adult T-Cell Leukemia 62
208 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
209 LSC001 Lesch-Nyhan Syndrome 62
210 SDD001 Sudden Infant Death Syndrome 62
211 KRT001 Keratoconjunctivitis Sicca 62
212 SCH014 Schistosomiasis 62
213 P MCK013 Meckel Syndrome, Type 1 62
214 c SYS004 Systemic Mastocytosis 62
215 P DNG005 Dengue Virus 62
216 PLS011 Plasmacytoma 62
217 P RBL001 Rubella 62
218 P UVT001 Uveitis 62
219 LPT001 Leptospirosis 62
220 RFS006 Refsum Disease, Classic 62
221 P GLY013 Glycogen Storage Disease 61
222 P NMN002 Niemann-Pick Disease 61
223 P HYP055 Hypoplastic Left Heart Syndrome 61
224 ALP103 Alpha-1-Antitrypsin Deficiency 61
225 P MTR004 Maturity-Onset Diabetes of the Young 61
226 HNC001 Henoch-Schoenlein Purpura 61
227 RHM001 Rheumatic Fever 61
228 DRR014 Darier-White Disease 61
229 c GCH016 Gaucher Disease, Type Ii 61
230 P GLM007 Glomerulonephritis 61
231 KLP010 Klippel-Trenaunay-Weber Syndrome 61
232 P BRG001 Brugada Syndrome 61
233 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
234 HYP810 Hypereosinophilic Syndrome, Idiopathic 61
235 ANT024 Anthrax Disease 61
236 P GRV001 Graves' Disease 61
237 CCC001 Coccidioidomycosis 61
238 P PRT013 Portal Hypertension 61
239 P VNT002 Ventricular Septal Defect 61
240 CHK001 Chikungunya 61
241 ADN027 Adenomyosis 60
242 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
243 P NTR004 Neutropenia 60
244 P HST010 Histiocytosis 60
245 P SJG008 Sjogren Syndrome 60
246 P ANT006 Antiphospholipid Syndrome 60
247 STT001 Status Epilepticus 60
248 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
249 P PNS012 Paine Syndrome 60
250 MYX005 Myxoid Liposarcoma 60
251 CHR619 Chromosome 2q35 Duplication Syndrome 60
252 P MLG056 Malignant Hyperthermia 60
253 P PRP029 Porphyria 60
254 OCL020 Ocular Cicatricial Pemphigoid 60
255 c SVR001 Severe Acute Respiratory Syndrome 60
256 DNH001 Donohue Syndrome 60
257 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
258 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
259 AVN001 Avian Influenza 60
260 P ERY058 Erythrocytosis, Familial, 1 60
261 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
262 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
263 P WLF004 Wolfram Syndrome 60
264 PLM070 Pulmonic Stenosis 60
265 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
266 LYS012 Lysosomal Acid Lipase Deficiency 60
267 CNT061 Conotruncal Heart Malformations 60
268 HPT046 Hepatic Veno-Occlusive Disease 60
269 P SPN052 Spondyloarthropathy 59
270 P ESP035 Esophagitis, Eosinophilic, 1 59
271 VGT001 Vogt-Koyanagi-Harada Disease 59
272 WST001 West Syndrome 59
273 ARG002 Argininosuccinic Aciduria 59
274 c PRD040 Periodontitis, Chronic 59
275 PTR032 Peters-Plus Syndrome 59
276 NTH001 Netherton Syndrome 59
277 P CHL002 Childhood Absence Epilepsy 59
278 CFF002 Coffin-Lowry Syndrome 59
279 PTN001 Patent Foramen Ovale 59
280 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 59
281 P MYC008 Myocarditis 59
282 SFT003 Soft Tissue Sarcoma 59
283 P HMR003 Hemorrhagic Disease 59
284 c GLC097 Glaucoma 3, Primary Congenital, a 59
285 PLC008 Placenta Disease 59
286 ANG020 Angiosarcoma 59
287 SYN007 Synovitis 59
288 SML019 Smallpox 59
289 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 58
290 c ANG068 Angioedema, Hereditary, Type I 58
291 P OCL013 Oculodentodigital Dysplasia 58
292 P SCL018 Scoliosis 58
293 P PRM002 Primary Hyperoxaluria 58
294 P ECL001 Eclampsia 58
295 c PRT132 Protoporphyria, Erythropoietic, 1 58
296 c FNC042 Fanconi Anemia, Complementation Group D2 58
297 c MYT020 Myotonic Dystrophy 2 58
298 CHL067 Cholecystitis 58
299 c NMN016 Niemann-Pick Disease, Type B 58
300 c PRX045 Peroxisome Biogenesis Disorder 1b 58
301 P SYP003 Syphilis 58
302 c CRP023 Carpenter Syndrome 1 58
303 P TMP001 Temporal Lobe Epilepsy 58
304 STR039 Sturge-Weber Syndrome 58
305 c GCH017 Gaucher Disease, Type Iii 58
306 HYP730 Hypogonadotropic Hypogonadism 58
307 c ACT135 Acute Graft Versus Host Disease 58
308 P ANG015 Angioedema 57
309 P AXN002 Axenfeld-Rieger Syndrome 57
310 P LKD001 Leukodystrophy 57
311 P ACT105 Acute Mountain Sickness 57
312 c RHB024 Rhabdomyosarcoma 2 57
313 P ICH004 Ichthyosis 57
314 P PLY006 Polydactyly 57
315 P SLV001 Silver-Russell Syndrome 57
316 ANN002 Anencephaly 57
317 CTR172 Citrullinemia, Classic 57
318 c CRN139 Cornelia De Lange Syndrome 1 57
319 PRP082 Porphyria, Congenital Erythropoietic 57
320 STS003 Sitosterolemia 57
321 SMT008 Smith-Magenis Syndrome 57
322 LCR014 Lacrimoauriculodentodigital Syndrome 57
323 HLL004 Hellp Syndrome 57
324 P LYS001 Loeys-Dietz Syndrome 57
325 PRP032 Porphyria Variegata 57
326 P VND007 Van Der Woude Syndrome 1 57
327 CPR004 Coproporphyria, Hereditary 56
328 INF034 Infective Endocarditis 56
329 GDP001 Goodpasture Syndrome 56
330 RSP019 Respiratory Distress Syndrome in Premature Infants 56
331 ECT006 Ectodermal Dysplasia 56
332 FCT003 Factor X Deficiency 56
333 OST024 Osteoporosis-Pseudoglioma Syndrome 56
334 MTC097 Mitochondrial Complex Iv Deficiency 56
335 CHN055 Chanarin-Dorfman Syndrome 56
336 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 56
337 P STC001 Stickler Syndrome 56
338 P ATR001 Atrioventricular Septal Defect 56
339 MYC087 Mycoplasma Pneumoniae Pneumonia 56
340 c LNG047 Long Qt Syndrome 2 56
341 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 56
342 CLF004 Cleft Lip/palate 56
343 GRG001 Greig Cephalopolysyndactyly Syndrome 56
344 c SCN007 Secondary Hyperparathyroidism 55
345 c SVR005 Severe Pre-Eclampsia 55
346 P HYP050 Hyperinsulinemic Hypoglycemia 55
347 ASP002 Aspartylglucosaminuria 55
348 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 55
349 CRM001 Crimean-Congo Hemorrhagic Fever 55
350 WLL006 Wells Syndrome 55
351 c AMY009 Amyloidosis Aa 55
352 c HPT007 Hepatitis E 55
353 c WLF013 Wolfram Syndrome 1 55
354 HMP005 Hemiplegia 55
355 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
356 ART002 Arts Syndrome 55
357 P DBT005 Diabetes Insipidus 55
358 TBR011 Tuberculous Meningitis 55
359 ERD001 Erdheim-Chester Disease 55
360 MCR088 Microscopic Polyangiitis 55
361 P HLL001 Hallermann-Streiff Syndrome 55
362 P ATS308 Autosomal Dominant Cerebellar Ataxia 55
363 VRN004 Vernal Keratoconjunctivitis 55
364 RFL001 Reflex Sympathetic Dystrophy 55
365 P HYD033 Hydrolethalus Syndrome 1 55
366 c NNN012 Noonan Syndrome 5 55
367 P CRN108 Cranioectodermal Dysplasia 1 55
368 P FBR031 Febrile Seizures 55
369 HRL003 Hurler Syndrome 55
370 c MLT086 Multiple Endocrine Neoplasia, Type Iv 54
371 c ANM036 Anemia, Sideroblastic, 1 54
372 DXT001 Dextrocardia 54
373 PRP016 Paraplegia 54
374 CRY005 Cryptococcosis 54
375 P END047 Endophthalmitis 54
376 FLT011 Felty Syndrome 54
377 c ANT034 Anterior Uveitis 54
378 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
379 c PYR010 Peyronie's Disease 54
380 c BRC078 Brachydactyly, Type A1 54
381 P ALP061 Alopecia, Androgenetic, 1 54
382 c CRG004 Crigler-Najjar Syndrome, Type Ii 54
383 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
384 BRL010 Buruli Ulcer 54
385 c LBR014 Leber Congenital Amaurosis 4 54
386 P NLD001 Nail Disease 54
387 P SCK004 Seckel Syndrome 54
388 P PRT096 Peritoneal Mesothelioma 54
389 MLT135 Multiple Sulfatase Deficiency 54
390 c BRC051 Brachydactyly, Type B1 54
391 c INT064 Intermediate Uveitis 53
392 ABL002 Ablepharon-Macrostomia Syndrome 53
393 ERL001 Early Myoclonic Encephalopathy 53
394 c NNN009 Noonan Syndrome 2 53
395 ESP020 Esophageal Atresia 53
396 c BNG030 Benign Ependymoma 53
397 P OTS001 Otosclerosis 53
398 P SCK002 Sick Sinus Syndrome 53
399 MCK005 Mckusick-Kaufman Syndrome 53
400 P CNG010 Congenital Stationary Night Blindness 53
401 CCT002 Cicatricial Pemphigoid 53
402 P CTN003 Cutaneous Lupus Erythematosus 53
403 NSS002 Neisseria Meningitidis Infection 53
404 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
405 RNP003 Renpenning Syndrome 1 53
406 c ART144 Arthrogryposis, Distal, Type 1a 53
407 CYT005 Cytomegalovirus Retinitis 53
408 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 53
409 P LPM005 Lipomatosis 53
410 ECT026 Ectopic Pregnancy 53
411 ENH001 Enhanced S-Cone Syndrome 53
412 P OPN001 Open-Angle Glaucoma 53
413 EPD015 Epidemic Typhus 53
414 c SCN036 Secondary Progressive Multiple Sclerosis 53
415 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
416 P ZLL001 Zellweger Syndrome 53
417 c CNG027 Congenital Hemolytic Anemia 53
418 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 53
419 P LCT001 Lactic Acidosis 52
420 TRC008 Trachoma 52
421 c OST163 Osteopetrosis, Autosomal Recessive 3 52
422 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 52
423 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 52
424 ALV002 Alveolar Echinococcosis 52
425 c HPT015 Hepatitis D 52
426 c WRD033 Waardenburg Syndrome, Type 2e 52
427 c INV001 Invasive Aspergillosis 52
428 P ACT010 Acth-Secreting Pituitary Adenoma 52
429 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 52
430 SPT005 Spotted Fever 52
431 RGH009 Right Atrial Isomerism 52
432 ANS023 Anus, Imperforate 52
433 c ART120 Arthrogryposis, Distal, Type 3 52
434 HPT009 Hepatopulmonary Syndrome 52
435 c PST005 Posterior Uveitis 52
436 c CNG012 Congenital Generalized Lipodystrophy 52
437 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
438 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
439 HYP458 Hyper Ige Syndrome 52
440 P CMP008 Compartment Syndrome 52
441 P MYP087 Myopathy, Tubular Aggregate, 1 52
442 DYS192 Dystonia, Dopa-Responsive 52
443 P MYT002 Myotonic Dystrophy 52
444 PRN011 Pernicious Anemia 52
445 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
446 PST062 Pustulosis Palmaris Et Plantaris 52
447 HNT002 Hantavirus Pulmonary Syndrome 52
448 P VSC013 Visceral Heterotaxy 52
449 P MYM013 Moyamoya Disease 1 52
450 P MRC003 Mercury Poisoning 52
451 ALP097 Alopecia Universalis Congenita 52
452 EBL001 Ebola Hemorrhagic Fever 52
453 ESN015 Eosinophilic Fasciitis 52
454 HMS001 Hemosiderosis 52
455 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
456 P MTC133 Mitochondrial Myopathy 52
457 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 52
458 c CNT075 Central Precocious Puberty 52
459 P OMP004 Omphalocele 52
460 GLC012 Galactosialidosis 52
461 P PSD015 Pseudohypoparathyroidism 51
462 PRR016 Pierre Robin Syndrome 51
463 CNG046 Congenital Fiber-Type Disproportion 51
464 CCH002 Coach Syndrome 51
465 KRT002 Keratomalacia 51
466 GRN017 Granulocytopenia 51
467 BRT005 Barth Syndrome 51
468 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 51
469 P SCL009 Sclerosing Cholangitis 51
470 c BRD012 Bardet-Biedl Syndrome 11 51
471 MNN042 Meningioma, Radiation-Induced 51
472 TRC012 Trichuriasis 51
473 c CLR131 Ciliary Dyskinesia, Primary, 1 51
474 NDL013 Nodular Regenerative Hyperplasia 51
475 FBR032 Fibromuscular Dysplasia 51
476 EBS001 Ebstein Anomaly 51
477 c PRM108 Primary Progressive Multiple Sclerosis 51
478 c AXN009 Axenfeld-Rieger Syndrome, Type 1 51
479 MCR141 Mucormycosis 51
480 c SPN293 Spinocerebellar Ataxia 12 51
481 P NRB010 Neuroblastoma 1 51
482 P ASP001 Asperger Syndrome 51
483 P GND004 Gonadal Dysgenesis 51
484 SPN119 Spondylarthropathy 51
485 ESN011 Eisenmenger Syndrome 51
486 MMB001 Membranoproliferative Glomerulonephritis 51
487 NCR007 Necrotizing Fasciitis 51
488 FRY006 Fryns Microphthalmia Syndrome 51
489 HMP009 Haemophilus Influenzae 51
490 NNT017 Neonatal Adrenoleukodystrophy 51
491 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 51
492 CMP028 Complement Component 2 Deficiency 51
493 c ATM099 Autoimmune Uveitis 51
494 c FML023 Familial Hemiplegic Migraine 50
495 c PRX059 Peroxisome Biogenesis Disorder 1a 50
496 P VNB005 Van Buchem Disease 50
497 GNG004 Ganglioglioma 50
498 VTR016 Vater/vacterl Association 50
499 MTC020 Mitochondrial Complex Ii Deficiency 50
500 GLC004 Galactokinase Deficiency 50
501 SBP001 Subependymal Giant Cell Astrocytoma 50
502 P BRS053 Breast Fibroadenoma 50
503 c ACR116 Aicardi-Goutieres Syndrome 1 50
504 P BRC006 Brachydactyly 50
505 P INF049 Infantile Myofibromatosis 50
506 ESP002 Esophageal Varix 50
507 DBL002 Double Outlet Right Ventricle 50
508 DYG001 Dyggve-Melchior-Clausen Disease 50
509 P WLL002 Weill-Marchesani Syndrome 50
510 HNN001 Hennekam Syndrome 50
511 CNG028 Congenital Hypoplastic Anemia 50
512 FSH001 Fish-Eye Disease 50
513 c VNW008 Von Willebrand Disease, Type 3 50
514 c CCK007 Cockayne Syndrome B 50
515 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
516 IDP035 Idiopathic Achalasia 50
517 c PST041 Posterior Urethral Valves 50
518 P HYP087 Hypotrichosis 50
519 c MLG002 Malignant Peritoneal Mesothelioma 50
520 c LNG048 Long Qt Syndrome 3 50
521 GLC036 Glucagonoma 50
522 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
523 c NML002 Nemaline Myopathy 1 50
524 SBP004 Subependymoma 50
525 SPH010 Sphingolipidosis 50
526 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
527 DRG013 Drug-Induced Lupus Erythematosus 50
528 CHL018 Childhood Medulloblastoma 50
529 CTY001 Cat Eye Syndrome 50
530 ESN002 Eosinophilia-Myalgia Syndrome 50
531 RST011 Restrictive Dermopathy, Lethal 50
532 HYP347 Hypotonia-Cystinuria Syndrome 50
533 c BRC109 Brachydactyly, Type E1 50
534 P AFB001 Afibrinogenemia 50
535 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
536 STR072 Stromal Keratitis 50
537 c MLG069 Malignant Hypertension 50
538 CHR101 Char Syndrome 50
539 DNN001 Danon Disease 50
540 c RNG023 Ring Chromosome 7 50
541 LCH011 Lichen Planopilaris 49
542 P SCL015 Scleritis 49
543 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 49
544 WHP001 Whipple Disease 49
545 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
546 P HMP006 Hemiplegic Migraine 49
547 P CLS054 Classic Ehlers-Danlos Syndrome 49
548 DRR008 Diarrhea 1, Secretory Chloride, Congenital 49
549 c CHR037 Chronic Eosinophilic Pneumonia 49
550 P PRX021 Proximal Symphalangism 49
551 HYP081 Hypolipoproteinemia 49
552 SLP001 Sleeping Sickness 49
553 c ACH041 Achondrogenesis, Type Ii 49
554 c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 49
555 FBR008 Fibrillary Astrocytoma 49
556 ART031 Aortic Coarctation 49
557 ALL001 Allan-Herndon-Dudley Syndrome 49
558 PRV004 Periventricular Leukomalacia 49
559 ANL022 Anal Fistula 49
560 NNS002 Nonspecific Interstitial Pneumonia 49
561 STS002 Situs Inversus 49
562 BTY001 Butyrylcholinesterase Deficiency 49
563 PHL006 Phelan-Mcdermid Syndrome 49
564 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
565 c NRC009 Narcolepsy 1 49
566 P NLX004 Neu-Laxova Syndrome 1 49
567 ZKF001 Zika Fever 49
568 FBR019 Fibromatosis 49
569 PLN005 Palindromic Rheumatism 49
570 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
571 c AXN010 Axenfeld-Rieger Syndrome, Type 3 49
572 c PSR017 Psoriasis 2 49
573 P ART018 Aortic Valve Insufficiency 49
574 P CRN074 Coronary Artery Aneurysm 49
575 HYP088 Hyper-Igd Syndrome 49
576 MCR225 Macrophage Activation Syndrome 49
577 FRB001 Farber Lipogranulomatosis 49
578 CTS011 Cutis Marmorata Telangiectatica Congenita 49
579 c NML003 Nemaline Myopathy 2 49
580 MRB001 Marburg Hemorrhagic Fever 49
581 ORT008 Orotic Aciduria 49
582 c GM2006 Gm2 Gangliosidosis 49
583 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 48
584 c GRS014 Griscelli Syndrome, Type 2 48
585 P NML001 Nemaline Myopathy 48
586 P EPT020 Epithelioid Hemangioendothelioma 48
587 RVS001 Revesz Syndrome 48
588 c WRD032 Waardenburg Syndrome, Type 2a 48
589 c BRD044 Bardet-Biedl Syndrome 17 48
590 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
591 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 48
592 NVS001 Neovascular Glaucoma 48
593 P TRT019 Torticollis 48
594 NDL003 Nodular Nonsuppurative Panniculitis 48
595 MNN020 Meningococcal Infection 48
596 P CHN059 Chondrocalcinosis 48
597 UNV001 Unverricht-Lundborg Syndrome 48
598 TRC040 Tracheoesophageal Fistula 48
599 IDP073 Idiopathic Hypercalciuria 48
600 TRC062 Tricuspid Atresia 48
601 c 3MT015 3-Methylglutaconic Aciduria, Type I 48
602 PRG033 Progressive Non-Fluent Aphasia 48
603 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
604 NNC002 Nance-Horan Syndrome 48
605 P ART084 Arteriovenous Fistula 48
606 PLM041 Pulmonary Valve Stenosis 48
607 ACR058 Acrofacial Dysostosis 1, Nager Type 48
608 HYP741 Hyperparathyroidism 2 with Jaw Tumors 48
609 c RTN177 Retinitis Pigmentosa 73 48
610 c FRS014 Fraser Syndrome 1 48
611 P ATM019 Autoimmune Polyendocrine Syndrome 48
612 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
613 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
614 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
615 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
616 P TYR004 Tyrosinemia 48
617 JHN001 Johanson-Blizzard Syndrome 48
618 c ACT078 Acute Porphyria 48
619 c SPN312 Spinocerebellar Ataxia 14 48
620 SGW002 Segawa Syndrome, Autosomal Recessive 48
621 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 48
622 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 48
623 KRT010 Kartagener Syndrome 48
624 PRS115 Prosthetic Joint Infection 48
625 P KRT005 Keratoacanthoma 48
626 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 48
627 TLR001 Tularemia 48
628 MYD002 Myd88 Deficiency 48
629 P HRD018 Hair Disease 48
630 c EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 48
631 P RPD001 Rapidly Progressive Glomerulonephritis 47
632 P PYR039 Peyronie Disease 47
633 c HMC010 Hemochromatosis, Type 3 47
634 SYM002 Sympathetic Ophthalmia 47
635 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 47
636 END020 Endocardial Fibroelastosis 47
637 MCR165 Microphthalmia with Limb Anomalies 47
638 MYC012 Mycetoma 47
639 P NNT009 Neonatal Diabetes Mellitus 47
640 P MYF003 Myofibrillar Myopathy 47
641 c CHR546 Chronic Mountain Sickness 47
642 c SCK009 Seckel Syndrome 1 47
643 c HNT004 Huntington Disease-Like 2 47
644 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 47
645 ANC002 Anca-Associated Vasculitis 47
646 P CNR007 Cone-Rod Dystrophy 6 47
647 DWR001 Dwarfism 47
648 P MTH007 Methemoglobinemia 47
649 c HMC035 Hemochromatosis, Type 4 47
650 c ALB019 Albinism, Oculocutaneous, Type Iv 47
651 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
652 MYX001 Myxopapillary Ependymoma 47
653 c MYP072 Myopathy, Myofibrillar, 1 47
654 TRN022 Transcobalamin Ii Deficiency 47
655 LMB050 Limbal Stem Cell Deficiency 47
656 c JVN003 Juvenile Xanthogranuloma 47
657 BNS003 Binswanger's Disease 47
658 HYP231 Hypothalamic Hamartomas 47
659 c RTN142 Retinitis Pigmentosa 38 47
660 P SYN075 Syngnathia 47
661 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 47
662 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 47
663 c SCH079 Schizophrenia 1 47
664 c ACT076 Acute Myocarditis 47
665 GGR001 Geographic Tongue 47
666 c BRD032 Bardet-Biedl Syndrome 14 47
667 FCL022 Focal Dystonia 47
668 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 47
669 c OPT051 Opitz Gbbb Syndrome, Type I 47
670 P GNG009 Gangliosidosis 47
671 P MRD002 Marden-Walker Syndrome 47
672 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 47
673 c ART155 Arthrogryposis, Distal, Type 2b1 47
674 P FNG006 Feingold Syndrome 1 46
675 ANT039 Antisynthetase Syndrome 46
676 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
677 PHS021 Phosphoglycerate Dehydrogenase Deficiency 46
678 PMP004 Pemphigus Foliaceus 46
679 c BRC079 Brachydactyly, Type A2 46
680 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
681 c FNC028 Fanconi Anemia, Complementation Group L 46
682 CHR594 Chromosome 3q29 Deletion Syndrome 46
683 HRT031 Hartnup Disorder 46
684 CNG069 Congenital Cytomegalovirus 46
685 P PRK001 Porokeratosis 46
686 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 46
687 ACT055 Actinomycosis 46
688 c SPN100 Spinocerebellar Ataxia 27 46
689 c USH035 Usher Syndrome Type 2 46
690 c SPH013 Spherocytosis, Type 1 46
691 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
692 MYP136 Myopathy, Centronuclear, X-Linked 46
693 SND002 Sneddon Syndrome 46
694 P PSD003 Pseudohypoaldosteronism 46
695 c WRD020 Waardenburg Syndrome, Type 4a 46
696 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 46
697 MCR037 Macroglossia 46
698 CHN065 Choanal Atresia, Posterior 46
699 PYG006 Pyogenic Granuloma 46
700 c 3MT014 3-Methylglutaconic Aciduria, Type V 46
701 SPR010 Sporotrichosis 46
702 CRD002 Cri-Du-Chat Syndrome 46
703 HMH004 Hemihyperplasia, Isolated 46
704 P SDR002 Siderosis 46
705 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
706 c WRD019 Waardenburg Syndrome, Type 4b 46
707 c JVN009 Juvenile Pilocytic Astrocytoma 46
708 JVN033 Juvenile Nasopharyngeal Angiofibroma 46
709 c LTN004 Late-Onset Retinal Degeneration 46
710 P CRN276 Corneal Endothelial Dystrophy 46
711 c RTN172 Retinitis Pigmentosa 1 46
712 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 46
713 CRV043 Cervical Dystonia 46
714 c HMC009 Hemochromatosis Type 2 46
715 KPS002 Kaposiform Hemangioendothelioma 46
716 c ALB015 Albinism, Oculocutaneous, Type V 46
717 c USH021 Usher Syndrome, Type Iid 46
718 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
719 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
720 KBG001 Kbg Syndrome 46
721 P DNR001 Duane Retraction Syndrome 46
722 RCR004 Recurrent Respiratory Papillomatosis 45
723 CHR492 Chromosome 13q14 Deletion Syndrome 45
724 BRN041 Bornholm Eye Disease 45
725 P MCL001 Mucolipidosis 45
726 c NNN013 Noonan Syndrome 6 45
727 P HRT035 Heart Block, Congenital 45
728 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 45
729 c CRN243 Carney Complex, Type 1 45
730 PRS127 Pearson Marrow-Pancreas Syndrome 45
731 c BRC081 Brachydactyly, Type C 45
732 MNN001 Meningeal Melanocytoma 45
733 MCR173 Microform Holoprosencephaly 45
734 P WHT013 White Sponge Nevus 1 45
735 MNL001 Monilethrix 45
736 PLM021 Pilomyxoid Astrocytoma 45
737 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
738 c FNC029 Fanconi Anemia, Complementation Group I 45
739 P MNN018 Mannosidosis 45
740 STT007 Steatocystoma Multiplex 45
741 P RDL002 Radioulnar Synostosis 45
742 c FNC045 Fanconi Anemia, Complementation Group F 45
743 c BRD020 Bardet-Biedl Syndrome 8 45
744 P CLS010 Cluster Headache 45
745 GLC106 Glucocorticoid Resistance, Generalized 45
746 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
747 P TRM004 Trimethylaminuria 45
748 VCT001 Vacterl Association 45
749 LPP002 Lipoprotein Glomerulopathy 45
750 P CPL003 Capillary Leak Syndrome 45
751 P SCL057 Scoliosis, Isolated 1 45
752 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
753 c SYS007 Systemic Capillary Leak Syndrome 45
754 PSD016 Pseudosarcomatous Fibromatosis 45
755 HYP466 Hyperplastic Polyposis Syndrome 45
756 INC003 Inclusion Conjunctivitis 45
757 c PRM022 Primary Syphilis 45
758 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 45
759 OCL033 Oculocerebral Syndrome with Hypopigmentation 45
760 c HYP794 Hyperoxaluria, Primary, Type I 45
761 SYR002 Syringocystadenoma Papilliferum 45
762 MNN032 Meningococcal Meningitis 45
763 c BRD033 Bardet-Biedl Syndrome 13 45
764 TKL001 Tukel Syndrome 45
765 c ACH021 Achromatopsia 3 45
766 c BRC060 Brachydactyly, Type E2 45
767 c BRG005 Brugada Syndrome 1 45
768 MRG013 Mirage Syndrome 45
769 c ACT159 Acute Transverse Myelitis 45
770 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
771 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 45
772 CRV045 Cervical Intraepithelial Neoplasia 45
773 GRN007 Granuloma Annulare 45
774 P PSD086 Pseudoarthrosis 45
775 BTN002 Boutonneuse Fever 45
776 c LPD019 Lipodystrophy, Partial, Acquired 44
777 c MCL066 Macular Dystrophy, Vitelliform, 2 44
778 CHN010 Chondroma 44
779 c SHR030 Short Qt Syndrome 44
780 MLB001 Mulibrey Nanism 44
781 PHH001 Phaeohyphomycosis 44
782 UVL010 Uveal Disease 44
783 IDP064 Idiopathic Neutropenia 44
784 c WRD031 Waardenburg Syndrome, Type 3 44
785 VLV042 Vulvar Vestibulitis Syndrome 44
786 SHR098 Short-Rib Thoracic Dysplasia 12 44
787 P CHN044 Chondrodysplasia Punctata Syndrome 44
788 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 44
789 PLL008 Pallister-Killian Syndrome 44
790 P JVN024 Juvenile Hereditary Hemochromatosis 44
791 VNZ002 Venezuelan Equine Encephalitis 44
792 MYC013 Mycobacterium Abscessus 44
793 NRW001 Norwegian Scabies 44
794 c HYP507 Hypotrichosis 1 44
795 c BRD011 Bardet-Biedl Syndrome 10 44
796 P MTC004 Mitochondrial Encephalomyopathy 44
797 STP004 Staphylococcal Toxic Shock Syndrome 44
798 c MCK032 Meckel Syndrome, Type 3 44
799 c BRT050 Bartter Syndrome, Type 2, Antenatal 44
800 MHR001 Mohr-Tranebjaerg Syndrome 44
801 P BRY005 Beryllium Disease 44
802 P EPN001 Ependymoblastoma 44
803 ASP004 Asphyxia Neonatorum 44
804 ACD008 Acid-Labile Subunit Deficiency 44
805 NCR004 Nocardiosis 44
806 c SPN103 Spinocerebellar Ataxia 31 44
807 CHN053 Chondromyxoid Fibroma 44
808 PLM019 Pleomorphic Liposarcoma 44
809 PRN049 Paraneoplastic Pemphigus 44
810 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 44
811 c HYP543 Hypoplastic Left Heart Syndrome 1 44
812 MWT001 Mowat-Wilson Syndrome 44
813 CHR008 Choroiditis 44
814 c LNG050 Long Qt Syndrome 5 44
815 ORF044 Orofacial Granulomatosis 44
816 ATP013 Atopic Keratoconjunctivitis 44
817 c FNC057 Fanconi Anemia, Complementation Group U 44
818 ANP009 Anaplastic Oligodendroglioma 44
819 MCR020 Microsporidiosis 44
820 c AMY069 Amyotrophic Lateral Sclerosis 21 44
821 NTR018 Neutrophilia, Hereditary 44
822 c NML004 Nemaline Myopathy 3 44
823 c MCK012 Meckel Syndrome, Type 6 44
824 P SYN012 Synpolydactyly 44
825 KRT063 Keratocystic Odontogenic Tumor 44
826 LCH009 Lichen Sclerosus 44
827 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 44
828 ANG002 Angiostrongyliasis 44
829 MYL013 Myeloperoxidase Deficiency 44
830 c BRD018 Bardet-Biedl Syndrome 6 44
831 c SPN308 Spinocerebellar Ataxia 28 44
832 DSC009 Discoid Lupus Erythematosus 44
833 c TRN032 Transient Neonatal Diabetes Mellitus 44
834 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
835 RHM035 Rheumatic Fever-Related Antigen 44
836 CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 44
837 ERY004 Erysipelas 44
838 P ANL018 Analbuminemia 44
839 ORM002 Oromandibular Dystonia 43
840 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
841 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 43
842 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 43
843 HTR003 Heterotaxy 43
844 GNG008 Ganglioneuroblastoma 43
845 PLM030 Pleomorphic Rhabdomyosarcoma 43
846 PLM020 Pleomorphic Xanthoastrocytoma 43
847 c TYR011 Tyrosinemia, Type Iii 43
848 c RTN160 Retinitis Pigmentosa 60 43
849 c PSR028 Psoriasis 7 43
850 c PSR032 Psoriasis 11 43
851 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
852 NNK001 Nonaka Myopathy 43
853 RLP003 Relapsing Fever 43
854 RBF001 Riboflavin Deficiency 43
855 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
856 TRP014 Triploidy 43
857 c LNG051 Long Qt Syndrome 6 43
858 FRG010 Fragile X Tremor/ataxia Syndrome 43
859 c FNC025 Fanconi Anemia, Complementation Group J 43
860 DYS032 Dystrophinopathies 43
861 PRM057 Paramyotonia Congenita of Von Eulenburg 43
862 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
863 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 43
864 ACT093 Actinic Cheilitis 43
865 ATR013 Atrichia with Papular Lesions 43
866 GND001 Gonadoblastoma 43
867 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 43
868 P PLL002 Pellagra 43
869 OCL025 Ocular Toxoplasmosis 43
870 GLY031 Glycoproteinosis 43
871 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
872 EST005 Esotropia 43
873 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 43
874 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43
875 PKL001 Poikiloderma with Neutropenia 43
876 ASB001 Asbestosis 43
877 HYP706 Hypermobile Ehlers-Danlos Syndrome 43
878 P BNG032 Benign Mesothelioma 43
879 P ORF002 Orofacial Cleft 43
880 c MYP123 Myopathy, Centronuclear, 1 43
881 c CNG023 Congenital Fibrosarcoma 43
882 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
883 MYC017 Mycobacterium Kansasii 43
884 PST027 Postencephalitic Parkinson Disease 43
885 LMB024 Limbic Encephalitis 42
886 c NNN011 Noonan Syndrome 4 42
887 TLP001 Talipes Equinovarus 42
888 P CNG003 Congenital Dyserythropoietic Anemia 42
889 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42
890 LKP003 Leukoplakia 42
891 BBN001 Bubonic Plague 42
892 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 42
893 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 42
894 c SPN330 Spondylocostal Dysostosis 5 42
895 IND002 Indolent Systemic Mastocytosis 42
896 c MCL016 Mucolipidosis Iii Gamma 42
897 c MYS078 Myasthenic Syndrome, Congenital, 14 42
898 c PSR018 Psoriasis 13 42
899 c BRC062 Brachydactyly, Type D 42
900 DDF001 Dedifferentiated Liposarcoma 42
901 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
902 TTR011 Tetraploidy 42
903 BWN003 Bowenoid Papulosis 42
904 c BRD048 Bardet-Biedl Syndrome 18 42
905 CRR001 Carrion's Disease 42
906 c PLY105 Polycystic Ovary Syndrome 1 42
907 c CHL140 Chilblain Lupus 1 42
908 c SPL034 Split-Hand/foot Malformation 4 42
909 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 42
910 c RTN143 Retinitis Pigmentosa 47 42
911 NVS015 Nevus Comedonicus 42
912 c EPP014 Epiphyseal Dysplasia, Multiple, 4 42
913 c FNC023 Fanconi Anemia, Complementation Group N 42
914 47X002 47,xyy 42
915 DBT090 Diabetes and Deafness, Maternally Inherited 42
916 HND004 Hand-Foot-Genital Syndrome 42
917 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
918 VLV044 Vulvar Intraepithelial Neoplasia 42
919 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 42
920 PCH007 Pouchitis 42
921 ORN001 Ornithosis 42
922 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
923 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
924 c SPH014 Spherocytosis, Type 2 42
925 c BRD035 Bardet-Biedl Syndrome 15 42
926 RCK002 Rocky Mountain Spotted Fever 42
927 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
928 MYP151 Myopathy, Congenital, Bailey-Bloch 42
929 HMF009 Hemifacial Hyperplasia 42
930 c RTN043 Retinitis Pigmentosa 13 42
931 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 42
932 P PST059 Pustular Psoriasis 42
933 HYL004 Hyaline Fibromatosis Syndrome 42
934 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 42
935 ZKV001 Zika Virus Infection 42
936 c HLP024 Holoprosencephaly 2 42
937 c ACQ012 Acquired Angioedema 42
938 P YWS001 Yaws 42
939 HSH004 Hashimoto Encephalopathy 42
940 CHY005 Chylothorax, Congenital 42
941 NCR001 Necrotizing Ulcerative Gingivitis 42
942 P CHR637 Choroidal Dystrophy, Central Areolar, 1 41
943 IDP033 Idiopathic Edema 41
944 P DYS023 Dyschromatosis Universalis Hereditaria 41
945 BLS002 Blastomycosis 41
946 INH001 Inhalation Anthrax 41
947 CRR002 Currarino Syndrome 41
948 PLG004 Plagiocephaly 41
949 c RNG004 Ring Chromosome 1 41
950 RMN001 Rumination Disorder 41
951 CSL001 Causalgia 41
952 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
953 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
954 MLL002 Miller Fisher Syndrome 41
955 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
956 c HYP575 Hypotrichosis 7 41
957 HRT040 Hirata Disease 41
958 CHR178 Chromosomal Triplication 41
959 c CTR130 Cataract 9, Multiple Types 41
960 c PRM212 Primary Microcephaly 41
961 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
962 c HMC021 Hemochromatosis, Type 2a 41
963 c LRS002 Larsen-Like Syndrome 41
964 c HLP026 Holoprosencephaly 3 41
965 ACN019 Acanthamoeba Keratitis 41
966 TRN044 Transposition of the Great Arteries 41
967 SPN331 Spondyloocular Syndrome 41
968 AMN006 Aminoaciduria 41
969 c RTS003 Ritscher-Schinzel Syndrome 1 41
970 TNG001 Tungiasis 41
971 c ALB016 Albinism, Oculocutaneous, Type Vii 41
972 BLR027 Blue Rubber Bleb Nevus 41
973 MNN021 Meningococcemia 41
974 MYP139 Myopathy, Proximal, and Ophthalmoplegia 41
975 CHR211 Chromosome 18p Deletion Syndrome 41
976 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
977 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
978 FRN014 Fournier Gangrene 41
979 c GLY023 Glycogen Storage Disease Type 0 41
980 MYH012 Myhre Syndrome 41
981 c CTR098 Cataract 1, Multiple Types 41
982 TRS021 Triosephosphate Isomerase Deficiency 41
983 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
984 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
985 P ATL001 Atelosteogenesis 41
986 c GLY098 Glycogen Storage Disease, Type Ixd 41
987 ISL121 Isolated Split Hand-Split Foot Malformation 41
988 c ERL056 Early-Onset Parkinson's Disease 41
989 P MTC010 Mitochondrial Dna Depletion Syndrome 41
990 c SCK015 Seckel Syndrome 2 41
991 HYP801 Hyperferritinemia with or Without Cataract 41
992 c ATM022 Autoimmune Myocarditis 41
993 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
994 c LNG053 Long Qt Syndrome 9 41
995 SCR035 Sacral Agenesis with Vertebral Anomalies 41
996 LKM006 Leukomalacia 41
997 MTG002 Mutagen Sensitivity 40
998 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
999 MRN002 Mooren's Ulcer 40
1000 P DNT009 Dentin Dysplasia 40
1001 CLD011 Cold Urticaria 40
1002 P MCR364 Macrodactyly 40
1003 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 40
1004 c HLP029 Holoprosencephaly 4 40
1005 P SYR003 Syringoma 40
1006 FNG016 Fungal Keratitis 40
1007 c GLC083 Glaucoma 3, Primary Infantile, B 40
1008 PTC002 Potocki-Lupski Syndrome 40
1009 c MCR263 Microphthalmia, Syndromic 1 40
1010 c CNG033 Congenital Syphilis 40
1011 CHR382 Chromosome 18q Deletion Syndrome 40
1012 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
1013 MNK002 Monkeypox 40
1014 P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 40
1015 PDT025 Pediatric Multiple Sclerosis 40
1016 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1017 P UVS001 Uv-Sensitive Syndrome 40
1018 GRN022 Granulosa Cell Tumor of the Ovary 40
1019 FXD003 Fixed Drug Eruption 40
1020 EHR002 Ehrlichiosis 40
1021 ESN017 Eosinophilic Granuloma 40
1022 PRX005 Peroxisomal Biogenesis Disorder 40
1023 P MSN006 Mesenchymoma 40
1024 c L2H001 L-2-Hydroxyglutaric Aciduria 40
1025 LTH001 Lethal Midline Granuloma 40
1026 P PRT042 Parietal Foramina 40
1027 c ERL020 Early-Onset Schizophrenia 40
1028 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 40
1029 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 40
1030 MYP094 Myopathy, Spheroid Body 40
1031 GNT031 Genitopatellar Syndrome 40
1032 PPL050 Papillary Tumor of the Pineal Region 40
1033 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 40
1034 DHY011 Dihydropyrimidinase Deficiency 40
1035 LRN006 Laurin-Sandrow Syndrome 40
1036 P SPL061 Split Hand-Foot Malformation 40
1037 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
1038 c OTP007 Otopalatodigital Syndrome, Type Ii 40
1039 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
1040 P JVN007 Juvenile Absence Epilepsy 40
1041 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
1042 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
1043 P MYG005 Myoglobinuria 40
1044 LPD001 Lipid Pneumonia 40
1045 MNG006 Monogenic Diabetes 40
1046 c GLL038 Galloway-Mowat Syndrome 1 40
1047 P XNT004 Xanthinuria 40
1048 P CRC039 Coarctation of Aorta 40
1049 GNT006 Giant Papillary Conjunctivitis 40
1050 c HYP559 Hypotrichosis 8 40
1051 c NML005 Nemaline Myopathy 4 40
1052 c PRG011 Progressive Myoclonus Epilepsy 40
1053 WLL004 Wallerian Degeneration 40
1054 c LNG057 Long Qt Syndrome 13 40
1055 SCR020 Sacral Defect with Anterior Meningocele 40
1056 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
1057 c APL023 Aplasia Cutis Congenita, Nonsyndromic 40
1058 GLC001 Glaucomatocyclitic Crisis 40
1059 c MGR032 Migraine, Familial Hemiplegic, 1 40
1060 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 40
1061 HYP236 Hyperbilirubinemia, Rotor Type 40
1062 WRT003 Warthin Tumor 39
1063 CHR078 Chorioretinitis 39
1064 c BRD017 Bardet-Biedl Syndrome 5 39
1065 c EPS017 Episodic Ataxia, Type 6 39
1066 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
1067 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
1068 END072 Endotheliitis 39
1069 BRB006 Barber-Say Syndrome 39
1070 c HYD064 Hydrocephalus, Congenital, 1 39
1071 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 39
1072 c KNB006 Knobloch Syndrome 1 39
1073 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 39
1074 DNS007 Dense Deposit Disease 39
1075 CRY008 Cryopyrin-Associated Periodic Syndrome 39
1076 c NNN021 Noonan Syndrome 8 39
1077 c CHR020 Chronic Interstitial Cystitis 39
1078 EPL131 Epilepsy, Pyridoxine-Dependent 39
1079 c MCK033 Meckel Syndrome, Type 4 39
1080 LYM029 Lymphedema-Distichiasis Syndrome 39
1081 c MYP131 Myopathy, Centronuclear, 2 39
1082 MNS001 Mansonelliasis 39
1083 SBV001 Subvalvular Aortic Stenosis 39
1084 HRL004 Hurler-Scheie Syndrome 39
1085 P LSS024 Lissencephaly with Cerebellar Hypoplasia 39
1086 c ACQ010 Acquired Polycythemia 39
1087 c NNN024 Noonan Syndrome 9 39
1088 WBR001 Weber Syndrome 39
1089 PTT002 Potter's Syndrome 39
1090 c PRK025 Parkinson Disease 10 39
1091 CNZ001 Coenzyme Q10 Deficiency Disease 39
1092 NCR002 Necrobiosis Lipoidica 39
1093 c ANT071 Anterior Segment Dysgenesis 4 39
1094 STC004 Stachybotrys Chartarum 39
1095 DXT002 Dextrocardia with Situs Inversus 39
1096 CYT002 Cytokine Deficiency 39
1097 AMR003 Amaurosis Fugax 39
1098 c VNM003 Van Maldergem Syndrome 1 39
1099 ADN064 Adenohypophysitis 39
1100 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
1101 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
1102 P TRC005 Tracheal Stenosis 39
1103 c SPH016 Spherocytosis, Type 4 39
1104 TRP009 Triple X Syndrome 39
1105 CRN247 Corneal Dystrophy, Thiel-Behnke Type 39
1106 c MCK031 Meckel Syndrome, Type 2 39
1107 C1Q001 C1q Deficiency 39
1108 c 46X002 46 Xx Gonadal Dysgenesis 39
1109 FNT005 Fontaine Progeroid Syndrome 39
1110 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
1111 XFP001 Xfe Progeroid Syndrome 39
1112 PTT045 Pituitary Hormone Deficiency, Combined, 1 39
1113 OVR093 Overhydrated Hereditary Stomatocytosis 39
1114 GLS018 Glass Syndrome 39
1115 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
1116 RFR010 Refractory Anemia 38
1117 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
1118 LTT002 Letterer-Siwe Disease 38
1119 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 38
1120 SLF014 Sulfite Oxidase Deficiency, Isolated 38
1121 c TRN009 Transient Hypogammaglobulinemia of Infancy 38
1122 NNT024 Neonatal Stroke 38
1123 c MLG145 Malignant Epithelioid Hemangioendothelioma 38
1124 CHR386 Chromosome 6pter-P24 Deletion Syndrome 38
1125 c SPL024 Split-Hand/foot Malformation 3 38
1126 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
1127 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
1128 c MCP051 Mucopolysaccharidosis, Type Ix 38
1129 CRB079 Cerebrospinal Fluid Leak 38
1130 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 38
1131 CNT106 Centralopathic Epilepsy 38
1132 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
1133 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 38
1134 HYP137 Hypotrichosis Simplex 38
1135 P HRD009 Hereditary Wilms' Tumor 38
1136 c RTN090 Retinitis Pigmentosa 55 38
1137 WLL039 Well-Differentiated Liposarcoma 38
1138 HTR014 Heterotaxy, Visceral, 1, X-Linked 38
1139 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 38
1140 c SPH015 Spherocytosis, Type 3 38
1141 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 38
1142 HYP550 Hypomagnesemia 1, Intestinal 38
1143 c RTN048 Retinitis Pigmentosa 19 38
1144 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38
1145 c HYP602 Hyperoxaluria, Primary, Type Ii 38
1146 HMP018 Hemophilic Arthropathy 38
1147 WST002 Western Equine Encephalitis 38
1148 BLL012 Bullous Impetigo 38
1149 BRS004 Breast Angiosarcoma 38
1150 CHR667 Chromosome 3pter-P25 Deletion Syndrome 38
1151 P SRT003 Sertoli-Leydig Cell Tumor 38
1152 PSR016 Psoriatic Juvenile Idiopathic Arthritis 38
1153 CPM001 Cap Myopathy 38
1154 P PRD037 Periodontal Ehlers-Danlos Syndrome 38
1155 c DYS119 Dystonia 9 38
1156 PDT035 Pediatric Systemic Lupus Erythematosus 38
1157 STR077 Streptococcal Toxic-Shock Syndrome 38
1158 HNZ004 Heinz Body Anemias 38
1159 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 38
1160 c LNG096 Long Qt Syndrome 15 38
1161 PHS009 Phosphoglycerate Kinase Deficiency 38
1162 c BRT038 Baraitser-Winter Syndrome 1 38
1163 47X003 47, Xxy 38
1164 DRC001 Dracunculiasis 38
1165 SML028 Semilobar Holoprosencephaly 38
1166 ASC009 Ascites, Chylous 38
1167 P CMM008 Communicating Hydrocephalus 38
1168 P BRN042 Branchiootic Syndrome 38
1169 LCT003 Lactocele 38
1170 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
1171 c AML020 Amelogenesis Imperfecta, Type Iv 38
1172 BWN006 Bowen's Disease 38
1173 PST086 Posterior Cortical Atrophy 38
1174 P KLN006 Koolen-De Vries Syndrome 38
1175 P TRN016 Transient Hypogammaglobulinemia 38
1176 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
1177 c FNC048 Fanconi Anemia, Complementation Group O 38
1178 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
1179 P JVN042 Juvenile Retinoschisis 38
1180 c CNR023 Cone-Rod Dystrophy 8 38
1181 P MNN007 Meningocele 38
1182 c FNC062 Fanconi Anemia, Complementation Group S 38
1183 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
1184 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
1185 c SCP001 Sc Phocomelia Syndrome 38
1186 c LSS006 Lissencephaly 2 38
1187 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
1188 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 38
1189 c WRB005 Warburg Micro Syndrome 4 38
1190 P CNG024 Congenital Nystagmus 38
1191 ALB014 Alobar Holoprosencephaly 37
1192 NTR007 Neutral Lipid Storage Disease with Myopathy 37
1193 HYP223 Hypoplastic Right Heart Syndrome 37
1194 SYN086 Synostoses, Tarsal, Carpal, and Digital 37
1195 c MYC068 Myoclonic Epilepsy of Infancy 37
1196 c SBC035 Subacute Cutaneous Lupus Erythematosus 37
1197 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 37
1198 P HVY001 Heavy Chain Disease 37
1199 PNM013 Pneumococcal Meningitis 37
1200 c OST126 Osteopetrosis, Autosomal Recessive 1 37
1201 P ANT061 Antenatal Bartter Syndrome 37
1202 ELS002 Elastosis Perforans Serpiginosa 37
1203 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
1204 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1205 c MNS014 Monosomy 22 37
1206 c SPL070 Split-Hand/foot Malformation 2 37
1207 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
1208 SCR039 Scorpion Envenomation 37
1209 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
1210 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
1211 c HYP581 Hypotrichosis 6 37
1212 DPH019 Diaphanospondylodysostosis 37
1213 c NNN025 Noonan Syndrome 10 37
1214 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
1215 c PRM032 Primary Congenital Glaucoma 37
1216 c ADL019 Adult Fibrosarcoma 37
1217 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
1218 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
1219 RSP007 Respiratory Distress Syndrome, Infant 37
1220 c CNR003 Cone-Rod Dystrophy 1 37
1221 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
1222 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1223 c CNR017 Cone-Rod Dystrophy 9 37
1224 HMN002 Human Granulocytic Anaplasmosis 37
1225 MLT028 Multiminicore Disease 37
1226 c USH041 Usher Syndrome, Type if 37
1227 P JVN008 Juvenile Glaucoma 37
1228 CND006 Candida Glabrata 37
1229 GLY032 Glycosylphosphatidylinositol Deficiency 37
1230 c RTN136 Retinitis Pigmentosa 44 37
1231 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
1232 AGM004 Agammaglobulinemia, Non-Bruton Type 37
1233 CHL109 Childhood Apraxia of Speech 37
1234 THR017 Thoracoabdominal Syndrome 37
1235 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 37
1236 c RNG008 Ring Chromosome 13 37
1237 EPT021 Epithelial Recurrent Erosion Dystrophy 37
1238 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
1239 c MCK014 Meckel Syndrome, Type 5 37
1240 DSN001 De Sanctis-Cacchione Syndrome 37
1241 MND025 Mandibulofacial Dysostosis with Alopecia 37
1242 SLP010 Slipped Capital Femoral Epiphysis 37
1243 c MCR124 Microphthalmia, Isolated 1 37
1244 END014 Endemic Typhus 37
1245 c INF092 Inflammatory Bowel Disease 9 37
1246 CRY032 Carey-Fineman-Ziter Syndrome 37
1247 SHW001 Shwartzman Phenomenon 37
1248 INT020 Intravenous Leiomyomatosis 37
1249 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
1250 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
1251 c CTR103 Cataract 4, Multiple Types 37
1252 URM005 Uremic Pruritus 37
1253 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 37
1254 PHT008 Photosensitive Epilepsy 37
1255 INT258 Interstitial Nephritis, Karyomegalic 37
1256 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37
1257 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 37
1258 P SPS008 Spastic Ataxia 37
1259 MLG141 Malignant Atrophic Papulosis 37
1260 OHD005 Ohdo Syndrome, Sbbys Variant 37
1261 TXC020 Toxic Oil Syndrome 37
1262 c GLY016 Glycogen Storage Disease Ib 37
1263 c SPL033 Split-Hand/foot Malformation 6 37
1264 c PRM149 Primary Hypereosinophilic Syndrome 37
1265 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
1266 PRL047 Prolonged Electroretinal Response Suppression 37
1267 DGT009 Digitotalar Dysmorphism 37
1268 c RTN044 Retinitis Pigmentosa 14 37
1269 CHR518 Chromosome 9p Deletion Syndrome 37
1270 c CNG513 Congenital Ptosis 37
1271 P CRB154 Cerebrocostomandibular Syndrome 37
1272 c LBR007 Leber Congenital Amaurosis 12 36
1273 c BRD045 Bardet-Biedl Syndrome 19 36
1274 CRY019 Cryohydrocytosis 36
1275 NNL001 Non-Langerhans-Cell Histiocytosis 36
1276 c RTN149 Retinitis Pigmentosa 42 36
1277 EMN001 Emanuel Syndrome 36
1278 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 36
1279 LPB001 Lipoblastoma 36
1280 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
1281 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 36
1282 c RTN131 Retinitis Pigmentosa 27 36
1283 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
1284 SPN012 Spindle Cell Hemangioma 36
1285 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 36
1286 ATY002 Atypical Choroid Plexus Papilloma 36
1287 TRS002 Tarsal-Carpal Coalition Syndrome 36
1288 LBR025 Lobar Holoprosencephaly 36
1289 RVL002 Ruvalcaba Syndrome 36
1290 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
1291 TRN012 Transient Global Amnesia 36
1292 c CNR016 Cone-Rod Dystrophy 7 36
1293 CHR387 Chromosome Xp21 Deletion Syndrome 36
1294 LMB008 Limb-Mammary Syndrome 36
1295 BNB002 Bainbridge-Ropers Syndrome 36
1296 c FNC059 Fanconi-Like Syndrome 36
1297 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
1298 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 36
1299 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
1300 c USH042 Usher Syndrome, Type Ig 36
1301 P BNG002 Benign Meningioma 36
1302 PNC059 Punctate Inner Choroidopathy 36
1303 P GLP001 Geleophysic Dysplasia 36
1304 c WRD024 Waardenburg Syndrome, Type 4c 36
1305 c CTR118 Cataract 14, Multiple Types 36
1306 EPP011 Epiphyseal Chondrodysplasia, Miura Type 36
1307 c ZMM002 Zimmermann-Laband Syndrome 1 36
1308 NCT003 N-Acetylglutamate Synthase Deficiency 36
1309 MNC019 Monocarboxylate Transporter 1 Deficiency 36
1310 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
1311 c LBR011 Leber Congenital Amaurosis 16 36
1312 SPR034 Superior Limbic Keratoconjunctivitis 36
1313 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1314 SPN221 Spina Bifida Occulta 36
1315 P MYC026 Myoclonus Epilepsy 36
1316 c NRC010 Narcolepsy 2 36
1317 OCH001 Ochronosis 36
1318 P DVL012 Developmental Dysplasia of the Hip 1 36
1319 c WRB003 Warburg Micro Syndrome 2 36
1320 SNG007 Sengers Syndrome 36
1321 c PST008 Posterior Scleritis 36
1322 c NML006 Nemaline Myopathy 5 36
1323 c ATM045 Autoimmune Glomerulonephritis 36
1324 ATH010 Athyreosis 36
1325 HNS001 Hansen's Disease 36
1326 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
1327 PRL042 Proliferating Trichilemmal Cyst 36
1328 c ATS076 Autosomal Recessive Stickler Syndrome 36
1329 XNT002 Xanthogranulomatous Cholecystitis 36
1330 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 36
1331 XNT009 Xanthoma Disseminatum 36
1332 c CTR170 Cataract 30, Multiple Types 36
1333 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
1334 OMS001 Omsk Hemorrhagic Fever 36
1335 c SPR083 Sporadic Hemiplegic Migraine 36
1336 PYR040 Pyropoikilocytosis, Hereditary 36
1337 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
1338 c SPR094 Sporadic Pheochromocytoma 36
1339 c RTN066 Retinitis Pigmentosa 4 36
1340 CLC008 Colchicine Resistance 36
1341 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
1342 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
1343 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
1344 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
1345 FST010 Fasting Hypoglycemia 36
1346 c CTR115 Cataract 16, Multiple Types 35
1347 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
1348 c FNC047 Fanconi Anemia, Complementation Group Q 35
1349 c INF087 Inflammatory Bowel Disease 4 35
1350 LSS001 Loiasis 35
1351 c CTR141 Cataract 21, Multiple Types 35
1352 ANG062 Angioosteohypertrophic Syndrome 35
1353 c RTN186 Retinitis Pigmentosa 75 35
1354 MLT035 Multifocal Choroiditis 35
1355 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
1356 P ECT002 Ectomesenchymoma 35
1357 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
1358 c BRD047 Bardet-Biedl Syndrome 16 35
1359 c RTN054 Retinitis Pigmentosa 25 35
1360 WRS002 Warsaw Breakage Syndrome 35
1361 IDP074 Idiopathic Bronchiectasis 35
1362 c LNG056 Long Qt Syndrome 12 35
1363 c PLM127 Pulmonary Hypertension, Primary, 3 35
1364 GRM010 Germ Cells Tumors 35
1365 LCH013 Lichen Planus Pemphigoides 35
1366 ARG001 Argentine Hemorrhagic Fever 35
1367 ODN005 Odontogenic Myxoma 35
1368 49X002 49,xxxxy Syndrome 35
1369 MCR103 Microtia 35
1370 c NNN020 Noonan Syndrome 7 35
1371 GPS001 Gapo Syndrome 35
1372 OGD001 Ogden Syndrome 35
1373 ANG050 Angiocentric Glioma 35
1374 c ANT023 Anterior Scleritis 35
1375 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35
1376 c SVR040 Severe Congenital Nemaline Myopathy 35
1377 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 35
1378 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1379 KGM001 Kagami-Ogata Syndrome 35
1380 NVS007 Nevus of Ota 35
1381 TKN001 Takenouchi-Kosaki Syndrome 35
1382 CRD016 Cardiac Rupture 35
1383 OPH002 Ophthalmia Neonatorum 35
1384 c FNC058 Fanconi Anemia, Complementation Group R 35
1385 c SPH017 Spherocytosis, Type 5 35
1386 c TYP024 Type Ii Mixed Cryoglobulinemia 35
1387 SCL025 Scleromyxedema 35
1388 c MYP079 Myopathy, Myofibrillar, 5 35
1389 P SPS012 Spastic Paraplegia 3a 35
1390 c MLG036 Malignant Spiradenoma 35
1391 CHR501 Chromosome 17q12 Deletion Syndrome 35
1392 INT104 Intravascular Papillary Endothelial Hyperplasia 35
1393 CLS049 Classic Phenylketonuria 35
1394 c CTR122 Cataract 5, Multiple Types 35
1395 c MLG157 Malignant Pheochromocytoma 35
1396 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 35
1397 c SPN299 Spinocerebellar Ataxia 20 35
1398 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 35
1399 ATR048 Atrial Tachyarrhythmia with Short Pr Interval 35
1400 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1401 CYT004 Cytomegalic Inclusion Disease 35
1402 CLD003 Cold-Induced Sweating Syndrome 35
1403 GMS001 Gemistocytic Astrocytoma 35
1404 PRT005 Protoplasmic Astrocytoma 35
1405 PRC051 Paracetamol Poisoning 35
1406 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
1407 SPS016 Spasmodic Dysphonia 35
1408 c TRC078 Trichohepatoenteric Syndrome 2 35
1409 P EPL003 Epulis 35
1410 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
1411 LGH012 Leigh Syndrome with Leukodystrophy 35
1412 PST063 Postsynaptic Congenital Myasthenic Syndromes 35
1413 PRM056 Primrose Syndrome 35
1414 P HYP078 Hypertrophy of Breast 35
1415 PLR023 Polr3-Related Leukodystrophy 35
1416 MNC011 Minicore Myopathy with External Ophthalmoplegia 35
1417 P HYP111 Hyperprolinemia 35
1418 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 35
1419 RTC010 Reticuloendotheliosis 35
1420 c RTN047 Retinitis Pigmentosa 18 34
1421 c RTN134 Retinitis Pigmentosa 40 34
1422 EMP011 Emphysema, Congenital Lobar 34
1423 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 34
1424 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
1425 HYP021 Hypercementosis 34
1426 SPS019 Spastic Paraparesis 34
1427 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
1428 ENG004 Engraftment Syndrome 34
1429 TRG019 Trigonocephaly with Short Stature and Developmental Delay 34
1430 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 34
1431 c CNR013 Cone-Rod Dystrophy 12 34
1432 KSH001 Keshan Disease 34
1433 c DYS067 Dystonia 6, Torsion 34
1434 c HRD142 Hereditary Xanthinuria 34
1435 KNZ001 Kanzaki Disease 34
1436 c FNC052 Fanconi Anemia, Complementation Group T 34
1437 NNS011 Nonseminomatous Germ Cell Tumor 34
1438 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
1439 c SPN247 Spinocerebellar Ataxia Type 19/22 34
1440 ODN006 Odontoma 34
1441 PLM052 Pulmonary Arteriovenous Malformation 34
1442 CPP003 Cap Polyposis 34
1443 SCH071 Schaaf-Yang Syndrome 34
1444 MXD032 Mixed Germ Cell Tumor 34
1445 c SYS043 Systemic Lupus Erythematosus 1 34
1446 c RTN050 Retinitis Pigmentosa 20 34
1447 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
1448 CMP040 Complement Component 4, Partial Deficiency of 34
1449 CRN141 Corneal Dystrophy, Reis-Bucklers Type 34
1450 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
1451 c JVN038 Juvenile Myasthenia Gravis 34
1452 CHR659 Chromosome 22q11.2 Duplication Syndrome 34
1453 P MYS032 Myosin Storage Myopathy 34
1454 MTC008 Mitochondrial Complex Iii Deficiency 34
1455 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
1456 LCL022 Localized Lipodystrophy 34
1457 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 34
1458 c RTN042 Retinitis Pigmentosa 12 34
1459 CNS013 Constricting Bands, Congenital 34
1460 P MXD016 Mixed Gonadal Dysgenesis 34
1461 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1462 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
1463 FLT009 Folate Malabsorption, Hereditary 34
1464 CHL078 Childhood-Onset Schizophrenia 34
1465 MYC014 Mycobacterium Chelonae 34
1466 INF046 Infantile Digital Fibromatosis 34
1467 P SYN059 Syndactyly, Type V 34
1468 MSC020 Mosaic Trisomy 8 34
1469 PHS022 Phosphoserine Phosphatase Deficiency 34
1470 MLG120 Malignant Migrating Partial Seizures of Infancy 34
1471 PLT007 Palatopharyngeal Incompetence 34
1472 P NNT042 Neonatal Lupus Erythematosus 34
1473 INT276 Interatrial Communication 34
1474 c SPL025 Split-Hand/foot Malformation 5 34
1475 PLM151 Pulmonary Arteriovenous Fistulas 34
1476 EPT003 Epithelioid Trophoblastic Tumor 34
1477 c RTN165 Retinitis Pigmentosa 68 34
1478 c OVR075 Ovarian Dysgenesis 1 34
1479 JBR005 Joubert Syndrome with Ocular Anomalies 34
1480 c RTN051 Retinitis Pigmentosa 22 34
1481 TMP012 Temple Syndrome 34
1482 HRS011 Horseshoe Kidney 34
1483 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
1484 ACR043 Acromicric Dysplasia 34
1485 CRB081 Cerebellar Ataxia, Cayman Type 34
1486 FCH002 Fuchs' Heterochromic Uveitis 34
1487 TRP006 Tarp Syndrome 34
1488 SPS004 Spastic Quadriplegia 34
1489 c HLP028 Holoprosencephaly 5 34
1490 KLL014 Kelley-Seegmiller Syndrome 34
1491 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34
1492 c SYN061 Syndactyly, Type Iv 34
1493 c ZLL011 Zellweger Spectrum Disorder 34
1494 P CXV002 Coxa Vara 34
1495 c MYS011 Myasthenia Gravis Congenital 33
1496 CHR033 Chordoid Glioma 33
1497 DYS030 Dysferlinopathy 33
1498 INF159 Infantile Sialic Acid Storage Disease 33
1499 c RTN055 Retinitis Pigmentosa 26 33
1500 c RNG020 Ring Chromosome 4 33
1501 c THY084 Thyrotoxic Periodic Paralysis 1 33
1502 c WRD010 Waardenburg Syndrome Type 4 33
1503 IDP041 Idiopathic Recurrent Pericarditis 33
1504 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
1505 c HYP603 Hyperoxaluria, Primary, Type Iii 33
1506 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1507 c GLY057 Glycogen Storage Disease X 33
1508 48X003 48,xxyy Syndrome 33
1509 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 33
1510 c MGR030 Migraine, Familial Hemiplegic, 2 33
1511 PRT049 Partial Deletion of Y 33
1512 TRP020 Tropical Endomyocardial Fibrosis 33
1513 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 33
1514 MYC088 Mycobacterium Avium Complex Infections 33
1515 c HRD173 Hereditary Late-Onset Parkinson Disease 33
1516 c ACT047 Acute Endophthalmitis 33
1517 P 3MT007 3-Methylglutaconic Aciduria 33
1518 PRN022 Perineurioma 33
1519 c MLG133 Malignant Ectomesenchymoma 33
1520 c CHR091 Chronic Meningitis 33
1521 c FNC056 Fanconi Anemia, Complementation Group V 33
1522 FSR001 Fusariosis 33
1523 MYC015 Mycobacterium Fortuitum 33
1524 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 33
1525 BYS001 Byssinosis 33
1526 c CTR125 Cataract 7 33
1527 c MYT027 Myotonia Congenita, Autosomal Dominant 33
1528 EXN003 Exencephaly 33
1529 LPG001 Lipogranulomatosis 33
1530 PRM050 Primary Orthostatic Tremor 33
1531 TRM011 Terminal Osseous Dysplasia 33
1532 PYR016 Pyridoxine Deficiency 33
1533 SRC015 Sarcosinemia 33
1534 CRN273 Corneal Dystrophy, Subepithelial Mucinous 33
1535 c DMN021 Diamond-Blackfan Anemia 6 33
1536 MYP064 Myopericytoma 33
1537 c ICH023 Ichthyosis, Acquired 33
1538 PPC001 Pepck 1 Deficiency 33
1539 c CNG020 Congenital Hypogammaglobulinemia 33
1540 OSC001 Oeis Complex 33
1541 BLP004 Blepharophimosis 33
1542 c ORT011 Orthostatic Hypotension 1 33
1543 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 33
1544 c CRN109 Cranioectodermal Dysplasia 2 33
1545 ENC014 Enchondroma 33
1546 c PRK093 Parkinson Disease 8, Autosomal Dominant 33
1547 P RTS001 Ritscher-Schinzel Syndrome 33
1548 UND007 Undifferentiated Connective Tissue Disease 33
1549 c BRD019 Bardet-Biedl Syndrome 7 33
1550 c MCK034 Meckel Syndrome, Type 8 33
1551 FLL042 Folliculotropic Mycosis Fungoides 33
1552 c HTR021 Heterotaxy, Visceral, 5, Autosomal 33
1553 PHS014 Phosphoglycerate Kinase 1 Deficiency 33
1554 c NNS043 Nonsyndromic Retinitis Pigmentosa 33
1555 c MCR251 Microphthalmia, Syndromic 6 33
1556 MYC019 Mycobacterium Marinum 33
1557 c KLF004 Kleefstra Syndrome 1 33
1558 c BST008 Bestrophinopathy, Autosomal Recessive 33
1559 MTG001 Metagonimiasis 33
1560 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 33
1561 P UNC017 Uncombable Hair Syndrome 1 33
1562 c CTR145 Cataract 44 33
1563 CHR377 Chromosome 10q26 Deletion Syndrome 33
1564 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1565 MLG143 Malignant Hyperthermia of Anesthesia 33
1566 BRC004 Brachydactyly-Syndactyly Syndrome 33
1567 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
1568 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
1569 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
1570 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33
1571 c SPN099 Spinocerebellar Ataxia 26 33
1572 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
1573 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1574 c GLP003 Geleophysic Dysplasia 1 33
1575 FRN020 Frontal Fibrosing Alopecia 33
1576 c AML057 Amelogenesis Imperfecta, Type Iiia 33
1577 c SPS036 Spastic Paraplegia 3 33
1578 NNT039 Neonatal Marfan Syndrome 33
1579 c CTR096 Cataract 6, Multiple Types 33
1580 PLY036 Polyembryoma 33
1581 GBT001 Gaba-Transaminase Deficiency 33
1582 P WRB001 Warburg Micro Syndrome 32
1583 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
1584 HYM001 Hymenolepiasis 32
1585 MYL074 Myelodysplastic Syndrome with Excess Blasts 32
1586 ANR010 Aneurysm of Sinus of Valsalva 32
1587 CYC002 Cyclosporiasis 32
1588 RTN072 Retinohepatoendocrinologic Syndrome 32
1589 c RTN067 Retinitis Pigmentosa 41 32
1590 SRC011 Sarcocystosis 32
1591 SPT016 Septopreoptic Holoprosencephaly 32
1592 c RTN062 Retinitis Pigmentosa 33 32
1593 c LPR022 Leprosy 2 32
1594 CLC010 Calcifying Epithelial Odontogenic Tumor 32
1595 CHR247 Chromosome 4p Deletion 32
1596 CRN274 Corneal Dystrophy, Posterior Amorphous 32
1597 MYC018 Mycobacterium Malmoense 32
1598 c HYP606 Hypokalemic Periodic Paralysis, Type 2 32
1599 c HYP515 Hypotrichosis 3 32
1600 MNC002 Munchausen by Proxy 32
1601 CHR582 Chromosome 3q29 Duplication Syndrome 32
1602 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
1603 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 32
1604 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
1605 CTN019 Cutaneous Polyarteritis Nodosa 32
1606 c EPL133 Epilepsy, Juvenile Absence 1 32
1607 MCR096 Macrocephaly/autism Syndrome 32
1608 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1609 OLV004 Oliver-Mcfarlane Syndrome 32
1610 ANH001 Ainhum 32
1611 IDP031 Idiopathic Hypersomnia 32
1612 GNT019 Giant Cell Myocarditis 32
1613 c CND011 Cone Dystrophy 3 32
1614 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
1615 OVR097 Ovarian Fibrothecoma 32
1616 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
1617 CYS011 Cystoisosporiasis 32
1618 DST008 Diastematomyelia 32
1619 CMB020 Combined Saposin Deficiency 32
1620 WDH003 Woodhouse-Sakati Syndrome 32
1621 c INF031 Inflammatory Leiomyosarcoma 32
1622 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
1623 P HYP700 Hypomyelinating Leukodystrophy 32
1624 c RBN008 Rubinstein-Taybi Syndrome 2 32
1625 CRN285 Corneal Dystrophy, Fleck 32
1626 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 32
1627 PRX009 Paroxysmal Hemicrania 32
1628 STT009 Sutton Disease 2 32
1629 HSD004 Hsd10 Mitochondrial Disease 32
1630 c SYN084 Synpolydactyly 1 32
1631 DSS025 Dissociative Seizures 32
1632 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
1633 P EPL198 Epilepsy, Myoclonic Juvenile 32
1634 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
1635 c WLL036 Weill-Marchesani Syndrome 1 32
1636 c HYP716 Hypermanganesemia with Dystonia 1 32
1637 c RTN133 Retinitis Pigmentosa 43 32
1638 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 32
1639 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
1640 OCL039 Oculoectodermal Syndrome 32
1641 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
1642 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
1643 c HYP525 Hypotrichosis 2 32
1644 TRC035 Tracheal Agenesis 32
1645 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 32
1646 P PLY148 Polydactyly, Preaxial Ii 32
1647 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
1648 c PRX060 Peroxisome Biogenesis Disorder 5a 32
1649 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
1650 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
1651 MLR023 Melorheostosis, Isolated 32
1652 P NNS031 Non-Syndromic Intellectual Disability 32
1653 c PRP091 Porphyria Cutanea Tarda, Type I 32
1654 c MTR051 Maternal Uniparental Disomy of Chromosome 1 32
1655 c HMC034 Hemochromatosis, Type 5 32
1656 c NGH007 Night Blindness, Congenital Stationary, Type 1b 32
1657 SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 31
1658 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
1659 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
1660 c RTN046 Retinitis Pigmentosa 17 31
1661 c MCR329 Microcephaly, Autosomal Dominant 31
1662 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 31
1663 ESN009 Eosinophil Peroxidase Deficiency 31
1664 PRT048 Partial Atrioventricular Canal 31
1665 c GLP004 Geleophysic Dysplasia 2 31
1666 c RTN068 Retinitis Pigmentosa 6 31
1667 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
1668 P LTH003 Lethal Congenital Contracture Syndrome 31
1669 PRN029 Parainfluenza Virus Type 3 31
1670 c EPS037 Episodic Ataxia, Type 4 31
1671 PRG023 Progeroid Short Stature with Pigmented Nevi 31
1672 CHL107 Childhood-Onset Nemaline Myopathy 31
1673 c BRG007 Brugada Syndrome 5 31
1674 LCH014 Lichen Amyloidosis 31
1675 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 31
1676 SCL022 Scleredema 31
1677 ALP048 Alopecia Totalis 31
1678 P CRN249 Cornea Plana 31
1679 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 31
1680 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 31
1681 c INT274 Intermediate Congenital Nemaline Myopathy 31
1682 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
1683 LMB010 Lambert Syndrome 31
1684 c RTN059 Retinitis Pigmentosa 30 31
1685 c RNG018 Ring Chromosome 22 31
1686 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 31
1687 SVN002 Sveinsson Chorioretinal Atrophy 31
1688 c RTN064 Retinitis Pigmentosa 35 31
1689 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1690 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1691 TTR012 Tetrasomy 9p 31
1692 OCL063 Oculopharyngodistal Myopathy 31
1693 c CCK002 Cockayne Syndrome Type I 31
1694 P HRD144 Hereditary Mixed Polyposis Syndrome 31
1695 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 31
1696 DFC001 Defective Apolipoprotein B-100 31
1697 c PRK071 Parkinson Disease 14, Autosomal Recessive 31
1698 P MTP005 Metaphyseal Anadysplasia 31
1699 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1700 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
1701 MTP028 Metaphyseal Dysplasia, Spahr Type 31
1702 ISL062 Isolated Plagiocephaly 31
1703 c RTN056 Retinitis Pigmentosa 28 31
1704 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 31
1705 TBL025 Tubulointerstitial Nephritis with Uveitis 31
1706 c RTN116 Retinitis Pigmentosa 56 31
1707 c CNT101 Central Congenital Hypothyroidism 31
1708 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 31
1709 ALG027 Al-Gazali-Bakalinova Syndrome 31
1710 P ACR106 Acrocephalopolysyndactyly Type Iii 31
1711 CNT057 Central Centrifugal Cicatricial Alopecia 31
1712 c AML017 Amelogenesis Imperfecta, Type Ib 31
1713 NKJ001 Nakajo Syndrome 31
1714 ATY016 Atypical Werner Syndrome 31
1715 c RTN129 Retinitis Pigmentosa 49 31
1716 MCR099 Microlissencephaly 31
1717 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 31
1718 c ACQ027 Acquired Cutis Laxa 31
1719 c ACR081 Aicardi-Goutieres Syndrome 6 31
1720 c INF086 Inflammatory Bowel Disease 3 31
1721 LRY022 Laryngoonychocutaneous Syndrome 31
1722 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
1723 c DYS059 Dystonia 16 31
1724 c CNR006 Cone-Rod Dystrophy 5 31
1725 c AMY089 Amyotrophic Lateral Sclerosis 7 31
1726 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
1727 DRF001 Dirofilariasis 31
1728 P FRS004 Free Sialic Acid Storage Disorders 31
1729 c RTN152 Retinitis Pigmentosa 66 31
1730 PRP038 Properdin Deficiency, X-Linked 31
1731 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
1732 SNG003 Single Ventricular Heart 31
1733 ALZ030 Alazami Syndrome 31
1734 c RTN169 Retinitis Pigmentosa 70 31
1735 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 31
1736 c CTR158 Cataract 37 31
1737 SPN125 Spondyloenchondrodysplasia 31
1738 RHM034 Rahman Syndrome 31
1739 c SCK010 Seckel Syndrome 4 31
1740 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
1741 MLD010 Mild Phenylketonuria 31
1742 ANP007 Anaplastic Ganglioglioma 31
1743 c MTC116 Mitochondrial Myopathy, Infantile, Transient 30
1744 PDT027 Pediatric Ulcerative Colitis 30
1745 c INF089 Inflammatory Bowel Disease 6 30
1746 c PLZ002 Pelizaeus-Merzbacher-Like Disease 30
1747 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 30
1748 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 30
1749 P DSB002 Desbuquois Dysplasia 30
1750 RFR013 Refractory Celiac Disease 30
1751 NRM009 Normokalemic Periodic Paralysis 30
1752 NRN022 Neurenteric Cyst 30
1753 HMF010 Hemifacial Microsomia with Radial Defects 30
1754 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 30
1755 P ACT232 Acute Necrotizing Encephalopathy 30
1756 c SPS021 Spastic Paraplegia 10 30
1757 UND011 Undetermined Early-Onset Epileptic Encephalopathy 30
1758 c MYP080 Myopathy, Myofibrillar, 4 30
1759 PLM049 Plummer Vinson Syndrome 30
1760 c PRX056 Peroxisome Biogenesis Disorder 11b 30
1761 c THY083 Thyrotoxic Periodic Paralysis 2 30
1762 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
1763 c SCK011 Seckel Syndrome 5 30
1764 c CTR129 Cataract 31, Multiple Types 30
1765 c SCH082 Schizophrenia 5 30
1766 P ADL037 Adult Xanthogranuloma 30
1767 c RTN114 Retinitis Pigmentosa 58 30
1768 c PLM128 Pulmonary Hypertension, Primary, 2 30
1769 c CTR095 Cataract 8, Multiple Types 30
1770 TYP026 Typical Congenital Nemaline Myopathy 30
1771 c CNR005 Cone-Rod Dystrophy 3 30
1772 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
1773 EF001 Eaf 30
1774 SRN002 Sirenomelia 30
1775 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 30
1776 GRN005 Granuloma Inguinale 30
1777 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
1778 c LBR013 Leber Congenital Amaurosis 3 30
1779 MTH077 Methylmalonic Aciduria, Cbla Type 30
1780 MST020 Mast Cell Activation Syndrome 30
1781 PST103 Postpartum Psychosis 30
1782 P VNM004 Van Maldergem Syndrome 30
1783 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 30
1784 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
1785 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
1786 c ELL005 Elliptocytosis 2 30
1787 c SPN098 Spinocerebellar Ataxia 25 30
1788 WLD005 Wild Type Attr Amyloidosis 30
1789 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 30
1790 LPD026 Lipedema 30
1791 c CTR174 Cataract 40 30
1792 ISL109 Isolated Cleft Lip 30
1793 MYP097 Myopathy with Lactic Acidosis, Hereditary 30
1794 PMP009 Pemphigus Erythematosus 30
1795 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 30
1796 HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 30
1797 c RTN210 Retinitis Pigmentosa 50 30
1798 ACT228 Acute Radiation Syndrome 30
1799 PHS023 Phosphoserine Aminotransferase Deficiency 30
1800 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
1801 c DYS139 Dyschromatosis Universalis Hereditaria 3 30
1802 RST024 Rosette-Forming Glioneuronal Tumor 30
1803 c RTN057 Retinitis Pigmentosa 29 30
1804 c USH031 Usher Syndrome, Type Ij 30
1805 c HRM020 Hermansky-Pudlak Syndrome 10 30
1806 AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 30
1807 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 30
1808 c STC013 Stickler Syndrome, Type Ii 30
1809 KLB004 Klebsiella Infection 30
1810 DPH003 Diphyllobothriasis 30
1811 MSC021 Mosaic Trisomy 9 30
1812 24D001 2,4-Dienoyl-Coa Reductase Deficiency 30
1813 CMP035 Complete Atrioventricular Canal 30
1814 c MYS067 Myasthenic Syndrome, Congenital, 22 30
1815 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
1816 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 30
1817 c RTN171 Retinitis Pigmentosa 59 30
1818 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 30
1819 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 30
1820 c DSB005 Desbuquois Dysplasia 2 30
1821 c GLY017 Glycogen Storage Disease Ic 30
1822 GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 30
1823 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
1824 c OST120 Osteopetrosis, Autosomal Recessive 5 30
1825 c EPS015 Episodic Ataxia, Type 7 30
1826 c HYP577 Hypotrichosis 13 30
1827 ASH001 Asherman's Syndrome 30
1828 DRR013 Diarrhea 8, Secretory Sodium, Congenital 30
1829 c RNG029 Ring Chromosome 14 Syndrome 30
1830 STN013 Stenotrophomonas Maltophilia Infection 30
1831 PSD040 Pseudomyotonia 30
1832 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 30
1833 c WLL037 Weill-Marchesani Syndrome 2 30
1834 c ATS210 Autosomal Recessive Sideroblastic Anemia 30
1835 c DYS146 Dystonia 24 29
1836 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
1837 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1838 RBS005 Ribose 5-Phosphate Isomerase Deficiency 29
1839 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29
1840 SCH060 Schistosoma Mansoni Infection, Susceptibility/ 29
1841 WRF003 Warfarin Syndrome 29
1842 49X001 49, Xxxxx 29
1843 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
1844 c MCL043 Macular Degeneration, Age-Related, 2 29
1845 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29
1846 CNG134 Congenitally Corrected Transposition of the Great Arteries 29
1847 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
1848 MXL016 Maxillonasal Dysplasia, Binder Type 29
1849 KYS001 Kyasanur Forest Disease 29
1850 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 29
1851 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
1852 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 29
1853 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 29
1854 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1855 UNV002 Univentricular Heart 29
1856 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
1857 FBR064 Febrile Infection-Related Epilepsy Syndrome 29
1858 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
1859 QNQ001 Quinquaud's Decalvans Folliculitis 29
1860 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
1861 FBR028 Fibrosing Mediastinitis 29
1862 c TYP010 Type C Thymoma 29
1863 PCT001 Pectus Carinatum 29
1864 PTT016 Patterson Pseudoleprechaunism Syndrome 29
1865 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
1866 GLT028 Glutaric Aciduria Iii 29
1867 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
1868 ISL096 Isolated Klippel-Feil Syndrome 29
1869 KRT020 Keratoconus Posticus Circumscriptus 29
1870 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 29
1871 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1872 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 29
1873 P CRY006 Cryofibrinogenemia 29
1874 STL007 Steel Syndrome 29
1875 GYN003 Gynandroblastoma 29
1876 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
1877 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1878 CRN264 Craniosynostosis with Fibular Aplasia 29
1879 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1880 MCR183 Microcephaly-Capillary Malformation Syndrome 29
1881 PSD046 Pseudotrisomy 13 Syndrome 29
1882 ACR004 Acrokeratosis Verruciformis 29
1883 c PRX050 Peroxisome Biogenesis Disorder 9b 29
1884 HYP682 Hypertelorism, Teebi Type 29
1885 ANP008 Anaplastic Oligoastrocytoma 29
1886 P VTR008 Vitreoretinal Degeneration 29
1887 IDP034 Idiopathic Central Precocious Puberty 29
1888 CDL005 Caudal Duplication Anomaly 29
1889 P STR035 Streptococcal Group a Invasive Disease 29
1890 c PRX048 Peroxisome Biogenesis Disorder 10a 29
1891 INN003 Iniencephaly 29
1892 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
1893 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 29
1894 PRP093 Pierpont Syndrome 29
1895 c USH030 Usher Syndrome, Type Ik 29
1896 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
1897 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 29
1898 c MCL059 Macular Dystrophy, Patterned, 1 29
1899 c RNG017 Ring Chromosome 21 29
1900 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
1901 GLT005 Glutamate Formiminotransferase Deficiency 29
1902 TTT001 Tatton-Brown-Rahman Syndrome 29
1903 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
1904 RNG003 Ring Dermoid of Cornea 29
1905 CLV004 Calvarial Hyperostosis 29
1906 c PLY149 Polydactyly, Preaxial Iv 29
1907 P ATX039 Ataxia-Pancytopenia Syndrome 29
1908 c MLG039 Malignant Essential Hypertension 29
1909 P ACT241 Acute Bilirubin Encephalopathy 29
1910 c OMD001 Omodysplasia 1 29
1911 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
1912 END051 Endolymphatic Sac Tumor 29
1913 RDC010 Reducing Body Myopathy 29
1914 BRN133 Bronchomalacia 29
1915 PDT040 Pediatric Hypertension 29
1916 PTY004 Pityriasis Lichenoides 29
1917 c PLY136 Polydactyly, Preaxial I 29
1918 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
1919 P SCL047 Sclerocornea 29
1920 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 29
1921 c LBR009 Leber Congenital Amaurosis 14 29
1922 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
1923 ACT094 Acute Articular Rheumatism 29
1924 SPN340 Spontaneous Intracranial Hypotension 29
1925 c ERL012 Early-Onset Glaucoma 29
1926 SDN002 Sudanophilic Cerebral Sclerosis 29
1927 c RTN036 Retinal Cone Dystrophy 4 29
1928 CRB147 Cerebellofaciodental Syndrome 29
1929 c PRX051 Peroxisome Biogenesis Disorder 6a 29
1930 c ALP039 Alopecia Areata 1 29
1931 c RNG022 Ring Chromosome 6 29
1932 P OVR076 Ovarian Dysgenesis 2 29
1933 KLB005 Kleeblattschaedel 28
1934 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 28
1935 c PLM121 Pulmonary Hypertension, Primary, 4 28
1936 c INF088 Inflammatory Bowel Disease 5 28
1937 PRK066 Parkinsonism with Spasticity, X-Linked 28
1938 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
1939 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 28
1940 c GLY043 Glycogen Storage Disease Xii 28
1941 P TRS029 Trisomy 1q 28
1942 c BRT039 Baraitser-Winter Syndrome 2 28
1943 c MCR252 Microphthalmia, Syndromic 5 28
1944 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
1945 ATY003 Atypical Autism 28
1946 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28
1947 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 28
1948 GGN004 Gigantomastia 28
1949 WLD004 Wildervanck Syndrome 28
1950 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
1951 c RTN032 Retinal Cone Dystrophy 1 28
1952 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1953 CRL006 Caroli Disease, Isolated 28
1954 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 28
1955 MTH047 Methanol Poisoning 28
1956 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
1957 PRX034 Peroxisome Disorders 28
1958 c ANR046 Aniridia 3 28
1959 CRT020 Cortisone Reductase Deficiency 28
1960 UVL009 Uvula, Bifid 28
1961 c GLL040 Galloway-Mowat Syndrome 3 28
1962 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
1963 BNG069 Benign Cephalic Histiocytosis 28
1964 c RTN106 Retinitis Pigmentosa 51 28
1965 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
1966 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1967 PMP008 Pemphigus Vegetans 28
1968 c JVN047 Juvenile Spondyloarthropathy 28
1969 HGH020 High Molecular Weight Kininogen Deficiency 28
1970 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
1971 EXR007 Exercise-Induced Anaphylaxis 28
1972 HMR015 Humeroradial Synostosis 28
1973 THY042 Thymic Epithelial Tumor 28
1974 MNG007 Manganese Poisoning 28
1975 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
1976 c ACQ047 Acquired Methemoglobinemia 28
1977 NTR011 Neutrophil-Specific Granule Deficiency 28
1978 c PRX054 Peroxisome Biogenesis Disorder 12a 28
1979 P KLZ004 Kala-Azar 1 28
1980 PRN035 Perniosis 28
1981 c RTN146 Retinitis Pigmentosa 62 28
1982 c FRN033 Frontonasal Dysplasia 2 28
1983 c ELL010 Elliptocytosis 1 28
1984 c RTN052 Retinitis Pigmentosa 23 28
1985 CLS047 Classic Progressive Supranuclear Palsy Syndrome 28
1986 CBB002 Cobb Syndrome 28
1987 FRN022 Frontofacionasal Dysplasia 28
1988 SCR024 Sacrococcygeal Teratoma 28
1989 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
1990 c RTN190 Retinitis Pigmentosa 76 28
1991 SLT005 Solitary Median Maxillary Central Incisor 28
1992 c 46X049 46,xy Sex Reversal 2 28
1993 PNT003 Pinta Disease 28
1994 ESN016 Eosinophilic Pustular Folliculitis 28
1995 c SCH080 Schizophrenia 3 28
1996 P STR092 Striatal Degeneration, Autosomal Dominant 2 28
1997 c INF019 Infectious Anterior Uveitis 28
1998 SPR038 Supranuclear Ocular Palsy 28
1999 c DMN017 Diamond-Blackfan Anemia 10 28
2000 OCL040 Oculomaxillofacial Dysostosis 28
2001 LCT017 Lactate Dehydrogenase B Deficiency 28
2002 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 28
2003 TTR014 Tetrasomy 18p 28
2004 c RNG015 Ring Chromosome 2 28
2005 MYT026 Myotonia Atrophica 28
2006 c ATS307 Autosomal Recessive Cerebellar Ataxia 28
2007 c RNG007 Ring Chromosome 12 28
2008 c SPN286 Spinocerebellar Ataxia 40 28
2009 CRD017 Cardiac Valvular Dysplasia, X-Linked 28
2010 WTT002 Witteveen-Kolk Syndrome 28
2011 c ART104 Arthrogryposis, Distal, Type 5d 28
2012 VND005 Van Den Ende-Gupta Syndrome 28
2013 FRS007 Frias Syndrome 28
2014 CHR225 Chromosome 1q21.1 Duplication Syndrome 28
2015 c PNT039 Pontocerebellar Hypoplasia, Type 7 28
2016 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
2017 RHM015 Rhombencephalosynapsis 28
2018 FLP001 Filippi Syndrome 28
2019 c HRD186 Hereditary Spastic Paraplegia 51 28
2020 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 28
2021 c MCL078 Macular Degeneration, Age-Related, 14 28
2022 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
2023 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
2024 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
2025 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 28
2026 c ALB017 Albinism, Oculocutaneous, Type Vi 28
2027 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
2028 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 28
2029 c ANT083 Anterior Segment Dysgenesis 7 28
2030 LNR004 Linear Porokeratosis 28
2031 CRN235 Corneal Dystrophy, Groenouw Type I 28
2032 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 28
2033 MCR039 Macrophagic Myofasciitis 28
2034 c SYM022 Symphalangism, Proximal, 1a 28
2035 c BRD021 Bardet-Biedl Syndrome 9 28
2036 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
2037 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 28
2038 CLF028 Cleft Soft Palate 28
2039 PRT086 Partial Hydatidiform Mole 27
2040 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
2041 P SCP010 Scapuloperoneal Myopathy 27
2042 HYP679 Hypoglossia-Hypodactylia 27
2043 c LNG098 Long Qt Syndrome 14 27
2044 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 27
2045 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 27
2046 c LYS020 Loeys-Dietz Syndrome 5 27
2047 c BRN128 Branchiootic Syndrome 3 27
2048 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
2049 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 27
2050 TRC007 Tricuspid Valve Prolapse 27
2051 c THR069 Three M Syndrome 2 27
2052 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
2053 ATY022 Atypical Coarctation of Aorta 27
2054 c CTR175 Cataract 24 27
2055 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
2056 PSD043 Pseudopelade of Brocq 27
2057 c EPL155 Epilepsy, Progressive Myoclonic, 8 27
2058 PSY012 Psychogenic Movement 27
2059 c AMY055 Amyotrophic Lateral Sclerosis 17 27
2060 c FML306 Familial or Sporadic Hemiplegic Migraine 27
2061 HMC001 Homocarnosinosis 27
2062 HRY005 Hairy Elbows 27
2063 c RNG010 Ring Chromosome 15 27
2064 c MCR245 Microphthalmia, Syndromic 8 27
2065 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 27
2066 c OTF003 Otofaciocervical Syndrome 2 27
2067 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 27
2068 SPR108 Suprabulbar Paresis, Congenital 27
2069 ANK010 Ankylostomiasis 27
2070 PTC005 Pituicytoma 27
2071 c MCK028 Meckel Syndrome 13 27
2072 TBL008 Tibial Hemimelia 27
2073 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 27
2074 ACR099 Acrofacial Dysostosis, Catania Type 27
2075 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
2076 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
2077 c NPH102 Nephrotic Syndrome, Type 14 27
2078 PHS010 Phosphoglycerate Mutase Deficiency 27
2079 c JVN034 Juvenile Polyposis of Infancy 27
2080 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
2081 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
2082 CHR265 Chromosome 8p Duplication 27
2083 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
2084 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
2085 c BRD050 Bardet-Biedl Syndrome 21 27
2086 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 27
2087 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
2088 CRY024 Crystal Arthropathies 27
2089 MYC021 Mycobacterium Xenopi 27
2090 c MGR031 Migraine, Familial Hemiplegic, 3 27
2091 c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 27
2092 TTR013 Tetrasomy X 27
2093 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 27
2094 DGT002 Digital Clubbing, Isolated Congenital 27
2095 LDD006 Ledderhose Disease 27
2096 GLD003 Goldmann-Favre Syndrome 27