Metabolic Diseases Category (1909 diseases)


Including: Metabolic, Nutritional, Anabolic, Catabolic, Obesity
See other categories (disease lists)

# Family MCID Name MIFTS
1 P OBS005 Obesity 91
2 P ABD016 Abdominal Obesity-Metabolic Syndrome 41
3 CRB025 Carbohydrate Metabolic Disorder 47
4 OBS062 Obesity, Morbid, Due to Leptin Receptor Deficiency 29
5 WLS004 Wilson-Turner Syndrome 40
6 LPD008 Lipid Metabolism Disorder 57
7 AMN002 Amino Acid Metabolic Disorder 48
8 NTR005 Nutritional Deficiency Disease 47
9 c INH020 Inherited Metabolic Disorder 45
10 MPH001 Mephenytoin Poor Metabolizer 26
11 HYD021 Hydrocephalus Obesity Hypogonadism 14
12 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 7
13 CHN016 Cohen Syndrome 54
14 PHS001 Phosphorus Metabolism Disease 40
15 P THP004 Thiopurines, Poor Metabolism of, 1 33
16 MNT112 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 27
17 MMS001 Momo Syndrome 24
18 IRN002 Iron Metabolism Disease 42
19 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 36
20 OBS063 Obesity, Morbid, Due to Leptin Deficiency 27
21 CNG376 Congenital Leptin Deficiency 15
22 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 15
23 MRB003 Morbid Obesity 58
24 URC002 Urea Cycle Disorder 51
25 CHP002 Chops Syndrome 39
26 OBS020 Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency 28
27 INB001 Inborn Amino Acid Metabolism Disorder 14
28 P CYP006 Cyp2c19-Related Altered Drug Metabolism 13
29 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
30 c ABD014 Abdominal Obesity-Metabolic Syndrome 1 48
31 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 31
32 MTL002 Metal Metabolism Disorder 37
33 THY064 Thyroid Hormone Metabolism, Abnormal 25
34 GLC008 Glucose Metabolism Disease 44
35 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 42
36 ORG002 Organic Acidemia 38
37 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 31
38 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 30
39 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 27
40 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 27
41 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 27
42 HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 25
43 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
44 MNR003 Mineral Metabolism Disease 40
45 MTC005 Mitochondrial Metabolism Disease 38
46 MTH021 Methylmalonic Acidemia with Homocystinuria 34
47 SRF006 Surfactant Dysfunction 33
48 PRN024 Purine-Pyrimidine Metabolic Disorder 32
49 STR018 Steroid Inherited Metabolic Disorder 32
50 PYR035 Pyrimidine Metabolic Disorder 30
51 HST007 Histidine Metabolism Disease 28
52 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 27
53 OBS011 Obesity with Impaired Prohormone Processing 26
54 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 19
55 MRB006 Morbid Obesity and Spermatogenic Failure 18
56 CLP006 Clopidogrel Resistance 39
57 MRS001 Marasmus 36
58 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 20
59 P OBS069 Obesity Susceptibility, Adrb2-Related 18
60 c OBS070 Obesity Susceptibility, Adrb3-Related 17
61 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
62 c OBS073 Obesity Susceptibility, Enpp1-Related 15
63 c OBS074 Obesity Susceptibility, Ghrl-Related 15
64 c OBS077 Obesity Susceptibility, Ucp1-Related 15
65 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
66 OBS044 Obesity, Severe Bmiq9 13
67 OBS043 Obesity Bmiq4 11
68 c CSF004 Csf2rb-Related Pulmonary Surfactant Metabolism Dysfunction 10
69 OBS041 Obesity Bmiq12 10
70 c ABC006 Abca3-Related Pulmonary Surfactant Metabolism Dysfunction 9
71 c SFT005 Sftpb-Related Pulmonary Surfactant Metabolism Dysfunction 9
72 OBS048 Obesity Bmiq11 9
73 c CSF002 Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction 8
74 c CYP008 Cyp2c9-Related Altered Drug Metabolism 8
75 DSR002 Disorders of Intracellular Cobalamin Metabolism 7
76 c OBS078 Obesity, Nr0b2-Related 6
77 c OBS079 Obesity, Ppargc1b-Related 6
78 c CYP004 Cyp1a2-Related Altered Drug Metabolism 5
79 c CYP005 Cyp2b6-Related Altered Drug Metabolism 5
80 c OBS071 Obesity Susceptibility, Agrp-Related 5
81 c OBS076 Obesity Susceptibility, Pomc-Related 4
82 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 3
83 LYS002 Lysosomal Storage Disease 52
84 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 24
85 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 21
86 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
87 MTB004 Metabolic Acidosis 47
88 BLR008 Bilirubin Metabolic Disorder 44
89 P ACQ009 Acquired Metabolic Disease 40
90 PLS010 Plasma Protein Metabolism Disease 35
91 VTM003 Vitamin Metabolic Disorder 31
92 OBS015 Obesity, Hyperphagia, and Developmental Delay 25
93 RTN173 Retinal Dystrophy and Obesity 21
94 BRN109 Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency 21
95 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 18
96 c THP005 Thiopurines, Poor Metabolism of, 2 15
97 EFV001 Efavirenz, Poor Metabolism of 11
98 P PLM071 Pulmonary Surfactant Metabolism Dysfunction 34
99 ZNC006 Zinc, Elevated Plasma 21
100 ERY030 Erythrocyte Lactate Transporter Defect 18
101 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
102 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15
103 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 15
104 NTR002 Nutritional Optic Neuropathy 14
105 LMN004 Laminopathy Type Decaudain-Vigouroux 14
106 c NT2001 Nat2-Related Altered Drug Metabolism 12
107 HLB001 Hla-B-Related Altered Drug Metabolism 12
108 OBS060 Obesity Due to Sim1 Deficiency 11
109 c CYP009 Cyp2d6-Related Altered Drug Metabolism 11
110 c SLC030 Slc6a4-Related Altered Drug Metabolism 11
111 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 11
112 OBS059 Obesity Bmiq18 10
113 c ABC018 Abcb1-Related Altered Drug Metabolism 10
114 c SLC031 Slco1b1-Related Altered Drug Metabolism 10
115 c SFT007 Sftpc-Related Pulmonary Surfactant Metabolism Dysfunction 9
116 XLN208 X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome 9
117 CHR069 Chronic Metabolic Polyneuropathy 8
118 c ABC020 Abcc4-Related Altered Drug Metabolism 8
119 c TPM008 Tpmt-Related Altered Drug Metabolism 8
120 c ABC019 Abcc2-Related Altered Drug Metabolism 8
121 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
122 c VKR001 Vkorc1-Related Altered Drug Metabolism 7
123 PRP039 Proprotein Convertase-1 Deficiency 7
124 c DPY004 Dpyd-Related Altered Drug Metabolism 7
125 c G6P002 G6pd-Related Altered Drug Metabolism 7
126 OBS080 Obesity Bmiq14 7
127 c F9R001 F9-Related Altered Drug Metabolism 6
128 c IFN001 Ifnl3-Related Altered Drug Metabolism 5
129 c HTR017 Htr2c-Related Altered Drug Metabolism 5
130 c OBS008 Obesity, Mc4r-Related 5
131 c OBS009 Obesity, Pparg-Related 5
132 c OBS056 Obesity, Ucp3-Related 5
133 c OBS057 Obesity, Pyy-Related 5
134 c OBS058 Obesity, Sim1-Related 5
135 c CYP007 Cyp2c8-Related Altered Drug Metabolism 4
136 MNG004 Monogenic Non-Syndromic Obesity, Autosomal Recessive 4
137 c CYP010 Cyp3a4-Related Altered Drug Metabolism 3
138 c CYP011 Cyp3a5-Related Altered Drug Metabolism 3
139 c CYP012 Cyp4f2-Related Altered Drug Metabolism 3
140 ABL003 Abl1 Kd-Related Altered Drug Metabolism 3
141 c ADR046 Adra2a-Related Altered Drug Metabolism 3
142 c ITP001 Itpa-Related Altered Drug Metabolism 3
143 c GDL002 Gadl1-Related Altered Drug Metabolism 3
144 c GRK001 Grik4-Related Altered Drug Metabolism 3
145 HLR005 Hla-a-Related Altered Drug Metabolism 3
146 c MTH063 Mthfr-Related Altered Drug Metabolism 3
147 c OPR002 Oprm1-Related Altered Drug Metabolism 3
148 c CMT003 Comt-Related Altered Drug Metabolism 3
149 c HTR016 Htr2a-Related Altered Drug Metabolism 3
150 c SLT012 Sult4a1-Related Altered Drug Metabolism 3
151 c UGT001 Ugt1a1-Related Altered Drug Metabolism 3
152 c UGT002 Ugt2b15-Related Altered Drug Metabolism 3
153 c UGT003 Ugt2b17-Related Altered Drug Metabolism 3
154 c UGT004 Ugt2b7-Related Altered Drug Metabolism 3
155 c OBS072 Obesity Susceptibility, Cartpt-Related 3
156 c OBS075 Obesity Susceptibility, Mc3r-Related 3
157 RCR029 Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 3
158 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80
159 c HRD010 Hereditary Spastic Paraplegia 66
160 P AMY004 Amyloidosis 64
161 c GLY008 Glycogen Storage Disease Ii 61
162 P HML002 Hemolytic Anemia 61
163 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
164 HYP056 Hypoglycemia 60
165 P CTS001 Cutis Laxa 60
166 c ATM010 Autoimmune Hemolytic Anemia 60
167 HYP066 Hyperglycemia 59
168 P GLY013 Glycogen Storage Disease 59
169 P HYP060 Hyperinsulinism 57
170 c SPN294 Spinocerebellar Ataxia 1 56
171 c ALM001 Al Amyloidosis 56
172 P GT001 Gout 55
173 c GLY060 Glycogen Storage Disease Ia 55
174 GST033 Gestational Diabetes 55
175 P SPN301 Spinocerebellar Ataxia 2 55
176 P HYP050 Hyperinsulinemic Hypoglycemia 55
177 P OCL002 Oculocutaneous Albinism 55
178 GLC003 Glucose Intolerance 54
179 c GLY007 Glycogen Storage Disease Iv 54
180 c HRM005 Hermansky-Pudlak Syndrome 1 52
181 c SPN293 Spinocerebellar Ataxia 12 52
182 ART002 Arts Syndrome 52
183 c SPN291 Spinocerebellar Ataxia 7 51
184 P NNT009 Neonatal Diabetes Mellitus 51
185 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
186 IRN001 Iron Deficiency Anemia 51
187 P LCT001 Lactic Acidosis 50
188 c LPM012 Lipomatosis, Multiple 50
189 P PRM002 Primary Hyperoxaluria 50
190 MSC006 Muscle Glycogenosis 50
191 HYP005 Hypokalemia 50
192 c GLY019 Glycogen Storage Disease Iiia 50
193 P HYP014 Hyperuricemia 50
194 c SPN314 Spinocerebellar Ataxia 10 50
195 c MCL062 Mucolipidosis Ii Alpha/beta 50
196 c HRM006 Hermansky-Pudlak Syndrome 3 49
197 HYP037 Hyperhomocysteinemia 49
198 c SPN312 Spinocerebellar Ataxia 14 49
199 CLC006 Calcinosis 49
200 DBT084 Diabetes Mellitus, Ketosis-Prone 49
201 MCR004 Macroglobulinemia 48
202 c EPL070 Epilepsy, Progressive Myoclonic 2b 48
203 PRT038 Protein-Energy Malnutrition 48
204 c MCP041 Mucopolysaccharidosis Type Iiia 48
205 LPD009 Lipid Storage Disease 48
206 c MCP038 Mucopolysaccharidosis Iva 48
207 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
208 HYP141 Hyperphenylalaninemia 48
209 OVR063 Overnutrition 48
210 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
211 c GLY005 Glycogen Storage Disease Vi 48
212 P LPM005 Lipomatosis 48
213 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
214 TRN022 Transcobalamin Ii Deficiency 47
215 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 47
216 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 47
217 c GLY011 Glycogen Storage Disease Vii 47
218 c SPN296 Spinocerebellar Ataxia 17 47
219 P NGH001 Night Blindness 47
220 c SPN309 Spinocerebellar Ataxia 6 47
221 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
222 XNT003 Xanthomatosis 46
223 HYP025 Hyperphosphatemia 46
224 c CNG027 Congenital Hemolytic Anemia 45
225 LPP002 Lipoprotein Glomerulopathy 45
226 c AMY009 Amyloidosis Aa 45
227 c SPN311 Spinocerebellar Ataxia 13 45
228 c HRM008 Hermansky-Pudlak Syndrome 5 45
229 HYP347 Hypotonia-Cystinuria Syndrome 45
230 VTM002 Vitamin B12 Deficiency 45
231 c SPN305 Spinocerebellar Ataxia 11 44
232 ERL001 Early Myoclonic Encephalopathy 44
233 P TYR004 Tyrosinemia 44
234 c HRD039 Hereditary Amyloidosis 44
235 c ACT078 Acute Porphyria 44
236 c SPN290 Spinocerebellar Ataxia 15 44
237 P INF016 Infantile Epileptic Encephalopathy 44
238 c SPN100 Spinocerebellar Ataxia 27 44
239 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
240 RBF001 Riboflavin Deficiency 44
241 P MCP012 Mucopolysaccharidosis Ih 44
242 LCT002 Lactose Intolerance 43
243 c CHR095 Chronic Progressive External Ophthalmoplegia 43
244 MHR001 Mohr-Tranebjaerg Syndrome 43
245 PRD004 Prediabetes Syndrome 43
246 WRN003 Wernicke Encephalopathy 43
247 ACY006 Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 43
248 c XNT010 Xanthinuria, Type I 43
249 P MTC004 Mitochondrial Encephalomyopathy 43
250 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 42
251 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 42
252 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
253 HYP017 Hypophosphatemia 42
254 c SPN304 Spinocerebellar Ataxia 8 42
255 c SPN265 Spinocerebellar Ataxia 36 42
256 c MCP026 Mucopolysaccharidosis Type Iiib 41
257 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
258 MDN005 Mednik Syndrome 41
259 P MNN018 Mannosidosis 41
260 FVS001 Favism 40
261 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
262 c SPN106 Spinocerebellar Ataxia 5 40
263 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
264 c HYP617 Hyperoxaluria, Primary, Type 1 40
265 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 40
266 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
267 c GM1004 Gm1-Gangliosidosis, Type I 40
268 c MCL016 Mucolipidosis Iii Gamma 40
269 c SPN330 Spondylocostal Dysostosis 5 40
270 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
271 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 39
272 c SPN103 Spinocerebellar Ataxia 31 39
273 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
274 c GLY016 Glycogen Storage Disease Ib 39
275 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 39
276 c HRM009 Hermansky-Pudlak Syndrome 6 39
277 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
278 P 3MT007 3-Methylglutaconic Aciduria 38
279 c SPN097 Spinocerebellar Ataxia 23 38
280 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 38
281 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
282 P HYP057 Hypervitaminosis D 38
283 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
284 P MYC068 Myoclonic Epilepsy of Infancy 38
285 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 37
286 CHL050 Cholesterol Ester Storage Disease 37
287 c CTS008 Cutis Laxa, Autosomal Dominant 37
288 c SPN094 Spinocerebellar Ataxia 18 37
289 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
290 CRB148 Cerebral Creatine Deficiency Syndrome 3 37
291 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
292 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 37
293 PRX001 Peroxisomal Disease 37
294 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
295 HYP003 Hypermethioninemia 37
296 c HYP058 Hypervitaminosis a 37
297 BTR002 Beta-Ureidopropionase Deficiency 37
298 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
299 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
300 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
301 MNC004 Monoclonal Paraproteinemia 36
302 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
303 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 36
304 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 36
305 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 36
306 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
307 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
308 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
309 P XNT004 Xanthinuria 35
310 PRP056 Porphyria, Acute Hepatic 35
311 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 35
312 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
313 CLS049 Classic Phenylketonuria 35
314 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
315 CHM006 Chime Syndrome 35
316 MTH039 Methylmalonic Aciduria, Mut(0) Type 35
317 END028 Endemic Goiter 35
318 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 35
319 FLC001 Folic Acid Deficiency Anemia 35
320 P MYG005 Myoglobinuria 34
321 c GM1006 Gm1-Gangliosidosis, Type Iii 34
322 c SPN099 Spinocerebellar Ataxia 26 34
323 SGW003 Segawa Syndrome, Recessive 34
324 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
325 c HRM007 Hermansky-Pudlak Syndrome 4 34
326 c MCP036 Mucopolysaccharidosis Ih/s 34
327 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
328 MNC019 Monocarboxylate Transporter 1 Deficiency 34
329 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
330 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
331 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
332 c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34
333 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
334 c HYP602 Hyperoxaluria, Primary, Type Ii 34
335 OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 34
336 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
337 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
338 c GM1005 Gm1-Gangliosidosis, Type Ii 34
339 c EPL121 Epilepsy, Progressive Myoclonic 1a 34
340 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
341 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
342 c SPN299 Spinocerebellar Ataxia 20 34
343 c MCP015 Mucopolysaccharidosis Type Ix 33
344 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
345 c ALB019 Albinism, Oculocutaneous, Type Iv 33
346 P HYP111 Hyperprolinemia 33
347 c SPN096 Spinocerebellar Ataxia 21 33
348 GLY032 Glycosylphosphatidylinositol Deficiency 33
349 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33
350 c SPN105 Spinocerebellar Ataxia 4 33
351 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
352 BTN004 Biotin Deficiency 33
353 SRN001 Serine Deficiency 33
354 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
355 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
356 c SPN095 Spinocerebellar Ataxia 19 33
357 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
358 MLY006 Molybdenum Cofactor Deficiency a 33
359 c GLY057 Glycogen Storage Disease X 33
360 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
361 P SPS008 Spastic Ataxia 33
362 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 33
363 c GLY023 Glycogen Storage Disease Type 0 33
364 c SPN266 Spinocerebellar Ataxia 35 32
365 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
366 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 32
367 c XNT011 Xanthinuria, Type Ii 32
368 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
369 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 32
370 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 32
371 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
372 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 32
373 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
374 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
375 PHS022 Phosphoserine Phosphatase Deficiency 32
376 c MCP020 Mucopolysaccharidosis Type Iiic 32
377 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
378 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
379 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
380 c HRM012 Hermansky-Pudlak Syndrome 9 32
381 c HPR001 Hprt-Related Gout 32
382 PLY010 Polyclonal Hypergammaglobulinemia 31
383 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 31
384 c HRD185 Hereditary Spastic Paraplegia 3a 31
385 VTM001 Vitamin K Deficiency Hemorrhagic Disease 31
386 PHS014 Phosphoglycerate Kinase 1 Deficiency 31
387 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
388 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
389 c HMC021 Hemochromatosis, Type 2a 31
390 c CNG379 Congenital Disorder of Glycosylation, Type It 31
391 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 31
392 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
393 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
394 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
395 PHS021 Phosphoglycerate Dehydrogenase Deficiency 31
396 c HRM011 Hermansky-Pudlak Syndrome 8 31
397 ARB001 Ariboflavinosis 31
398 c GLY044 Glycogen Storage Disease Ixc 31
399 c MYP097 Myopathy with Lactic Acidosis, Hereditary 30
400 LYS004 Lysosomal Acid Phosphatase Deficiency 30
401 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
402 P GNG010 Gangliosidosis Gm2 30
403 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
404 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
405 CPT005 Cpt Ii Deficiency, Lethal Neonatal 30
406 ASP024 Asparagine Synthetase Deficiency 30
407 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 30
408 MTC059 Mitochondrial Dna Depletion Syndrome 5 30
409 c SPN104 Spinocerebellar Ataxia 34 30
410 CHR387 Chromosome Xp21 Deletion Syndrome 30
411 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
412 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
413 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
414 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
415 c MCP023 Mucopolysaccharidosis Type Ivb 30
416 c GLY042 Glycogen Storage Disease Xi 30
417 LCT005 Lacticacidemia Due to Pdx1 Deficiency 30
418 TYP027 Type 1 Diabetes Mellitus 10 30
419 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
420 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
421 c HMC034 Hemochromatosis, Type 5 29
422 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
423 PRT094 Protoporphyria, Erythropoietic, X-Linked 29
424 c CNG188 Congenital Disorder of Glycosylation, Type if 29
425 GBT001 Gaba-Transaminase Deficiency 29
426 c MCP014 Mucopolysaccharidosis Type Iiid 29
427 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
428 P SPS012 Spastic Paraplegia 3a 29
429 MTC060 Mitochondrial Dna Depletion Syndrome 9 29
430 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
431 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
432 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 29
433 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
434 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 28
435 c SPS072 Spastic Ataxia 1, Autosomal Dominant 28
436 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
437 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 28
438 GLY094 Glycine Encephalopathy with Normal Serum Glycine 28
439 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
440 ACR021 Aica-Ribosiduria Due to Atic Deficiency 28
441 c HRM010 Hermansky-Pudlak Syndrome 7 28
442 c SPN098 Spinocerebellar Ataxia 25 28
443 c HYP603 Hyperoxaluria, Primary, Type Iii 28
444 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
445 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
446 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 28
447 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 28
448 c EPL145 Epilepsy, Progressive Myoclonic 6 28
449 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
450 c HRD015 Hereditary Night Blindness 28
451 c BNG079 Benign Adult Familial Myoclonic Epilepsy 28
452 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 28
453 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
454 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
455 MTC099 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 28
456 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
457 MTC088 Mitochondrial Dna Depletion Syndrome 13 28
458 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
459 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
460 SWY001 Swayback 27
461 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
462 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
463 c SPS031 Spastic Paraplegia 23 27
464 c MYC048 Myoclonic Epilepsy, Infantile, Familial 27
465 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 27
466 c ALB015 Albinism, Oculocutaneous, Type V 27
467 c HRD142 Hereditary Xanthinuria 27
468 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
469 CMB009 Combined Sap Deficiency 27
470 DGL002 D-Glyceric Aciduria 27
471 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
472 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
473 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
474 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
475 CTN011 Cutaneous Porphyria 27
476 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
477 c SPN286 Spinocerebellar Ataxia 40 27
478 MTC062 Mitochondrial Dna Depletion Syndrome 2 27
479 CPT006 Cpt Ii Deficiency, Myopathic, Stress-Induced 27
480 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 27
481 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
482 MLT153 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects 26
483 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 26
484 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
485 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
486 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
487 RBS005 Ribose 5-Phosphate Isomerase Deficiency 26
488 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
489 c ACQ027 Acquired Cutis Laxa 26
490 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
491 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
492 c SPN284 Spinocerebellar Ataxia 38 26
493 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
494 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
495 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 26
496 c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 26
497 c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 26
498 P ENC051 Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 26
499 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
500 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
501 c GLY009 Glycogen Storage Disease Xv 26
502 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
503 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
504 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
505 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 26
506 MLD011 Mild Hyperphenylalaninemia 26
507 c SPS036 Spastic Paraplegia 3 26
508 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
509 c HYP564 Hypocalcemia, Autosomal Dominant 2 25
510 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
511 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
512 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
513 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
514 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
515 c SPS013 Spastic Paraplegia 8 25
516 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
517 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
518 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
519 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
520 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
521 c SPS021 Spastic Paraplegia 10 25
522 c GLY017 Glycogen Storage Disease Ic 25
523 c ALB016 Albinism, Oculocutaneous, Type Vii 25
524 c SPS092 Spastic Paraplegia 11 25
525 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
526 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
527 c SPN372 Spinocerebellar Ataxia 43 25
528 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 25
529 c MYG003 Myoglobinuria Recurrent 25
530 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25
531 c MYC070 Myoclonic Epilepsy, Juvenile 1 25
532 MTC078 Mitochondrial Dna Depletion Syndrome 11 25
533 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
534 c HRM020 Hermansky-Pudlak Syndrome 10 25
535 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
536 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
537 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 24
538 SLC020 Sialic Acid Storage Disorder, Infantile 24
539 c HYP248 Hyperprolinemia, Type I 24
540 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
541 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
542 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
543 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
544 NLX003 Neu-Laxova Syndrome 2 24
545 c EPL134 Epilepsy, Progressive Myoclonic 7 24
546 c INF122 Infantile Krabbe Disease 24
547 c SPN247 Spinocerebellar Ataxia Type 19/22 24
548 CHL045 Choline Deficiency Disease 24
549 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 24
550 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
551 LGH012 Leigh Syndrome with Leukodystrophy 24
552 c SPS200 Spastic Paraplegia 62 24
553 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 24
554 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
555 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
556 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
557 c HRD186 Hereditary Spastic Paraplegia 51 24
558 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
559 MLY005 Molybdenum Cofactor Deficiency B 24
560 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
561 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
562 c GLY059 Glycogen Storage Disease Xiii 24
563 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
564 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
565 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24
566 c HMC019 Hemochromatosis, Type 2b 24
567 c SPS025 Spastic Paraplegia 15 24
568 LCT013 Lactase Deficiency, Congenital 24
569 CRB137 Cerebral Creatine Deficiency Syndrome 24
570 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
571 c SPS041 Spastic Paraplegia 6 24
572 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
573 c SPS135 Spastic Paraplegia 63 24
574 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
575 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
576 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 23
577 c SPN102 Spinocerebellar Ataxia 30 23
578 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 23
579 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 23
580 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 23
581 c SPN283 Spinocerebellar Ataxia 37 23
582 c SPN383 Spinocerebellar Ataxia 42 23
583 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
584 c SPS091 Spastic Paraplegia 4 23
585 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 23
586 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
587 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
588 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 23
589 c SPS020 Spastic Paraplegia 1 23
590 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
591 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
592 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 23
593 c GLY043 Glycogen Storage Disease Xii 23
594 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
595 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 23
596 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
597 CMB064 Combined Oxidative Phosphorylation Deficiency 24 23
598 CMB018 Combined Oxidative Phosphorylation Deficiency 7 23
599 P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 23
600 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
601 CMB016 Combined Oxidative Phosphorylation Deficiency 5 23
602 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
603 c PRP091 Porphyria Cutanea Tarda, Type I 23
604 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
605 c DBT065 Diabetes Mellitus, Transient Neonatal 2 23
606 CMB044 Combined Oxidative Phosphorylation Deficiency 14 23
607 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
608 c EPL155 Epilepsy, Progressive Myoclonic, 8 23
609 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 23
610 c FML324 Familial Porphyria Cutanea Tarda 23
611 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
612 CMB045 Combined Oxidative Phosphorylation Deficiency 19 23
613 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
614 PYR024 Pyridoxamine 5'-Phosphate Oxidase Deficiency 22
615 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
616 CMB013 Combined Oxidative Phosphorylation Deficiency 2 22
617 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
618 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
619 c SPS039 Spastic Paraplegia 5a 22
620 HYP579 Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 22
621 CRT011 Carotenemia 22
622 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 22
623 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
624 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
625 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
626 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
627 GLT028 Glutaric Aciduria Iii 22
628 c SPS027 Spastic Paraplegia 17 22
629 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 22
630 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
631 ANM008 Anemia, Sideroblastic, with Ataxia 22
632 MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 22
633 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
634 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
635 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
636 MTH040 Methylmalonyl-Coa Epimerase Deficiency 22
637 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 22
638 c PRM150 Primary Localized Amyloidosis 22
639 GCH014 Gaucher Disease, Atypical 22
640 CMB043 Combined Oxidative Phosphorylation Deficiency 9 22
641 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
642 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 22
643 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
644 c MTH034 Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type 22
645 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
646 SDH011 Sedoheptulokinase Deficiency 21
647 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
648 c EPL094 Epilepsy, Juvenile Myoclonic 5 21
649 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 21
650 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
651 MTC079 Mitochondrial Pyruvate Carrier Deficiency 21
652 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
653 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 21
654 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 21
655 CMB048 Combined Oxidative Phosphorylation Deficiency 15 21
656 c EPL144 Epilepsy, Progressive Myoclonic 1b 21
657 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 21
658 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
659 MTC116 Mitochondrial Myopathy, Infantile, Transient 21
660 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
661 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
662 c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 21
663 MLY007 Molybdenum Cofactor Deficiency C 21
664 c EPL154 Epilepsy, Progressive Myoclonic, 9 21
665 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
666 HML007 Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency 21
667 c JVN024 Juvenile Hereditary Hemochromatosis 21
668 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
669 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 20
670 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
671 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 20
672 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
673 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 20
674 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 20
675 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 20
676 ANM012 Anemia, Hemolytic, Due to Umph1 Deficiency 20
677 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
678 CMB015 Combined Oxidative Phosphorylation Deficiency 4 20
679 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
680 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
681 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
682 CMB049 Combined Oxidative Phosphorylation Deficiency 17 20
683 c SPN323 Spinocerebellar Ataxia 41 20
684 c SPS028 Spastic Paraplegia 18 20
685 STT003 Steatitis 20
686 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
687 c GLY006 Glycogen Storage Disease Viii 20
688 CMB041 Combined Oxidative Phosphorylation Deficiency 13 20
689 c SPS034 Spastic Paraplegia 26 20
690 c SPN324 Spondylocostal Dysostosis 6 20
691 c SPS042 Spastic Paraplegia 9 20
692 HYP690 Hyper-Beta-Alaninemia 20
693 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
694 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 19
695 LPY002 Lipoyltransferase 1 Deficiency 19
696 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
697 c SPS023 Spastic Paraplegia 13 19
698 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 19
699 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 19
700 c SPS054 Spastic Paraplegia 35 19
701 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 19
702 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
703 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
704 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 19
705 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
706 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
707 c SPS022 Spastic Paraplegia 12 19
708 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
709 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 18
710 CMB065 Combined Oxidative Phosphorylation Deficiency 26 18
711 c INF126 Infantile Glycine Encephalopathy 18
712 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 18
713 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 18
714 c FRC005 Fructosuria, Essential 18
715 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
716 HML011 Hemolytic Anemia Due to Glutathione Synthetase Deficiency 18
717 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 18
718 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
719 c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 18
720 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
721 CMB052 Combined Oxidative Phosphorylation Deficiency 20 18
722 CMB063 Combined Oxidative Phosphorylation Deficiency 25 18
723 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
724 HMG019 Hmg-Coa Synthase-2 Deficiency 18
725 c SPS033 Spastic Paraplegia 25 18
726 c SPN259 Spinocerebellar Ataxia 32 18
727 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
728 NNT038 Neonatal Glycine Encephalopathy 18
729 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 18
730 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 18
731 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 18
732 ISL082 Isolated Atp Synthase Deficiency 18
733 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
734 PLY114 Polyglucosan Body Myopathy 2 17
735 c SPN107 Spinocerebellar Ataxia 9 17
736 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
737 c SVR048 Severe Canavan Disease 17
738 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
739 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 17
740 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 17
741 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
742 PRM123 Paramyloidosis 17
743 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 17
744 LKT001 Leukotriene C4 Synthase Deficiency 17
745 c SPS037 Spastic Paraplegia 31 16
746 c SPN336 Spinocerebellar Ataxia Type 16 16
747 PYR009 Pyridoxine Deficiency Anemia 16
748 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
749 c SPS175 Spastic Paraplegia 49 16
750 c EFM001 Efemp2-Related Cutis Laxa 16
751 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
752 c SPS064 Spastic Paraplegia 45 16
753 TRN068 Transketolase Deficiency 16
754 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16
755 CMB051 Combined Oxidative Phosphorylation Deficiency 21 16
756 c AHM002 Ah Amyloidosis 16
757 DBT003 Diabetic Peripheral Angiopathy 16
758 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
759 c SPS024 Spastic Paraplegia 14 16
760 c SPS038 Spastic Paraplegia 39 16
761 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 16
762 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
763 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
764 c SPS170 Spastic Ataxia 2 16
765 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 16
766 CMB071 Combined Oxidative Phosphorylation Deficiency 27 16
767 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
768 MTC115 Mitochondrial Myopathy, Lethal, Infantile 16
769 c ADL071 Adult Krabbe Disease 15
770 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 15
771 c SPS173 Spastic Paraplegia 43 15
772 CMB076 Combined Oxidative Phosphorylation Deficiency 31 15
773 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
774 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 15
775 c SPS035 Spastic Paraplegia 29 15
776 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 15
777 CMB077 Combined Oxidative Phosphorylation Deficiency 30 15
778 c SPS080 Spastic Paraplegia 51 15
779 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 15
780 c ALD008 Aldh18a1-Related Cutis Laxa 15
781 c SPS174 Spastic Paraplegia 46 15
782 GNR029 Generalized Galactose Epimerase Deficiency 15
783 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
784 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
785 c PRG073 Progressive Myoclonic Epilepsy 5 14
786 c GLY093 Glycogen Storage Disease Ixa 14
787 MLD009 Mild Canavan Disease 14
788 c SPS026 Spastic Paraplegia 16 14
789 c SPS161 Spastic Paraplegia 32 14
790 c FTL032 Fatal Infantile Lactic Acidosis 14
791 c SPS052 Spastic Paraplegia 30 14
792 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 14
793 c SPS162 Spastic Ataxia 1 14
794 c EPL186 Epilepsy, Juvenile Myoclonic 9 14
795 c SPS165 Spastic Paraplegia 47 14
796 c SPS181 Spastic Paraplegia 72 14
797 c SPS056 Spastic Paraplegia 44 14
798 c HRD187 Hereditary Spastic Paraplegia 62 13
799 c HRD188 Hereditary Spastic Paraplegia 72 13
800 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 13
801 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 13
802 c SPS214 Spastic Ataxia 4 13
803 HYD055 Hydroxylysinuria 13
804 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
805 c ALP056 Alpha-Mannosidosis, Adult Form 13
806 P FRC010 Fructosuria 13
807 c GLY001 Glycogen Storage Disease Ix 13
808 c SCN015 Scn1a-Related Severe Myoclonic Epilepsy in Infancy 13
809 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 13
810 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 13
811 c SPS053 Spastic Paraplegia 33 13
812 c SPS177 Spastic Paraplegia 54 13
813 c SPS179 Spastic Paraplegia 57 13
814 c SPS180 Spastic Paraplegia 61 13
815 c MYG006 Myoglobinuria, Autosomal Dominant 13
816 c SPS029 Spastic Paraplegia 19 13
817 c SPS171 Spastic Ataxia 5 13
818 c SPS166 Spastic Paraplegia 50 13
819 c SPS032 Spastic Paraplegia 24 13
820 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 13
821 ENC040 Encephalopathy Due to Sulfite Oxidase Deficiency 13
822 GNT042 Genetic Recurrent Myoglobinuria 13
823 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 13
824 c LTB003 Ltbp4-Related Cutis Laxa 12
825 c SPN122 Spondylocostal Dysostosis 2 12
826 c SPS163 Spastic Ataxia 3 12
827 c TFR001 Tfr2-Related Hereditary Hemochromatosis 12
828 c SPS164 Spastic Paraplegia 28 12
829 c SPS055 Spastic Paraplegia 42 12
830 c SPS167 Spastic Paraplegia 52 12
831 c SPS178 Spastic Paraplegia 55 12
832 c SPS168 Spastic Paraplegia 56 12
833 c SPN123 Spondylocostal Dysostosis 3 12
834 c TYS005 Tay-Sachs Disease, B1 Variant 12
835 c DLL001 Dll3-Related Spondylocostal Dysostosis, Autosomal Recessive 12
836 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
837 c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 12
838 c SPS076 Spastic Paraplegia 48 11
839 c SPS140 Spastic Paraplegia 64 11
840 c SPS182 Spastic Paraplegia 75 11
841 c SPS201 Spastic Paraplegia 76 11
842 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
843 RNN006 Reunion Island Larsen Syndrome 11
844 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 11
845 c EPL009 Epilepsy Progressive Myoclonic Type 3 11
846 c SPS199 Spastic Paraplegia 59 11
847 c PYC002 Pycr1-Related Cutis Laxa 11
848 c ACQ002 Acquired Night Blindness 11
849 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 10
850 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
851 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
852 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
853 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
854 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
855 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
856 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
857 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
858 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 10
859 c SPS176 Spastic Paraplegia 53 10
860 c SPS169 Spastic Paraplegia 66 10
861 c SPS040 Spastic Paraplegia 5b 10
862 c HS7001 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive 10
863 c URD001 Urod-Related Porphyrias 10
864 c SLC015 Slc40a1-Related Hereditary Hemochromatosis 9
865 FLN005 Folinic Acid-Responsive Seizures 9
866 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
867 c MSP002 Mesp2-Related Spondylocostal Dysostosis, Autosomal Recessive 9
868 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
869 c SPN121 Spondylocostal Dysostosis 1 9
870 c HMP019 Hamp-Related Juvenile Hemochromatosis 9
871 c FBL003 Fbln5-Related Cutis Laxa 9
872 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 9
873 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 9
874 c GLD005 Glud1-Related Hyperinsulinism 9
875 DRR012 Diarrhea, Chronic, with Villous Atrophy 9
876 PRM138 Pure Mitochondrial Myopathy 9
877 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
878 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
879 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9
880 c LFN001 Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive 8
881 c RPP005 Ripply2-Related Spondylocostal Dysostosis, Autosomal Recessive 8
882 P TTL001 Total Internal Ophthalmoplegia 8
883 c JVN036 Juvenile Sialidosis Type 2 8
884 c CNG348 Congenital Sialidosis Type 2 8
885 c ADL083 Adult-Onset Citrullinemia Type I 8
886 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
887 c GTH001 Gout, Hprt1-Related 8
888 c HRD048 Hereditary Hyperuricemia 8
889 c SPS172 Spastic Ataxia 7 8
890 c ALP055 Alpha-Mannosidosis, Infantile Form 8
891 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 8
892 c SPN124 Spondylocostal Dysostosis 4 8
893 c ABC012 Abcc8-Related Transient Neonatal Diabetes Mellitus 2 8
894 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
895 c ACT189 Acute Neonatal Citrullinemia Type I 7
896 c ELN002 Eln-Related Cutis Laxa 7
897 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 7
898 c CCN006 Cacnb4-Related Juvenile Myoclonic Epilepsy 7
899 c CLC014 Clcn2-Related Juvenile Myoclonic Epilepsy 7
900 c EFH001 Efhc1-Related Juvenile Myoclonic Epilepsy 7
901 c GBR001 Gabra1-Related Juvenile Myoclonic Epilepsy 7
902 c GBR003 Gabrd-Related Juvenile Myoclonic Epilepsy 7
903 TRN049 Transient Tyrosinemia of the Newborn 7
904 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
905 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
906 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
907 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
908 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
909 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 7
910 c MCR097 Mcee-Related Methylmalonic Acidemia 7
911 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 6
912 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 6
913 c SPN274 Spondylocostal Dysostosis 5, Autosomal Dominant 6
914 c EJM001 Ejm2-Related Juvenile Myoclonic Epilepsy 6
915 c EJM002 Ejm3-Related Juvenile Myoclonic Epilepsy 6
916 c EJM003 Ejm4-Related Juvenile Myoclonic Epilepsy 6
917 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 6
918 c MMR001 Mmaa-Related Methylmalonic Acidemia 6
919 c MMB004 Mmab-Related Methylmalonic Acidemia 6
920 c MTR038 Mut-Related Methylmalonic Acidemia 6
921 c ABC010 Abcc8-Related Hyperinsulinism 6
922 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
923 c HML019 Hemolytic Anemia Due to Band 3 Montefiore 6
924 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
925 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
926 c INS026 Insr-Related Hyperinsulinism 6
927 c SLC029 Slc16a1-Related Hyperinsulinism 6
928 c DBT021 Diabetes Mellitus, Kcnj11-Related Transient Neonatal 5
929 c AMT002 Amt-Related Glycine Encephalopathy 5
930 c GCS001 Gcsh-Related Glycine Encephalopathy 5
931 c GLD004 Gldc-Related Glycine Encephalopathy 5
932 c MMD001 Mmadhc-Related Methylmalonic Acidemia 5
933 XYL001 Xylt1-Cdg 5
934 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
935 MTH065 Methylmalonic Acidemia Cb1a Type 5
936 c KCN006 Kcnj11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus 5
937 c LTH012 Lethal Encephalopathy Due to Defective Mitochondrial Peroxisomal Fission 5
938 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4
939 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 4
940 c GCK001 Gck-Related Hyperinsulinism 4
941 c HDH001 Hadh-Related Hyperinsulinism 4
942 c HNF002 Hnf4a-Related Hyperinsulinism 4
943 c KCN004 Kcnj11-Related Hyperinsulinism 4
944 P INF061 Infantile Myopathy and Lactic Acidosis 4
945 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 4
946 c MYG002 Myoglobinuria Dominant Form 3
947 MTR052 Maternally-Inherited Mitochondrial Dystonia 3
948 CRB012 Cerebral Folate Receptor Alpha Deficiency 3
949 c LCT010 Lactic Acidosis Congenital Infantile 2
950 ADN058 Adenylosuccinase Lyase Deficiency 2
951 MTC086 Mitochondrial Dna Depletion Syndrome 12 2
952 OBS050 Obesity Due to Congenital Leptin Deficiency 21
953 P RCK004 Rickets 57
954 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 27
955 c RCK006 Rickets Due to Defect in Vitamin D 25-Hydroxylation 25
956 AYZ001 Ayazi Syndrome 8
957 P PRP029 Porphyria 59
958 HMG006 Hmg-Coa Lyase Deficiency 34
959 IRN004 Iron-Refractory Iron Deficiency Anemia 39
960 KWS001 Kwashiorkor 34
961 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 55
962 ADN024 Adenine Phosphoribosyltransferase Deficiency 48
963 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 48
964 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47
965 TTR005 Tetrahydrobiopterin Deficiency 41
966 RHH001 Rohhad 24
967 3HY001 3-Hydroxyisobutyric Aciduria 23
968 CMR002 Coumarin Resistance 50
969 P CRB059 Cerebellar Degeneration 37
970 GRC001 Gracile Syndrome 32
971 MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29
972 c PRM015 Primary Cerebellar Degeneration 26
973 HYP364 Hyperostosis Frontalis Interna 26
974 c SBC039 Subacute Cerebellar Degeneration 21
975 THP001 Thiopurine S Methyltranferase Deficiency 13
976 DPL003 Diploid-Triploid Mosaicism 13
977 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 39
978 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 39
979 IRN008 Iron Overload in Africa 31
980 CHR506 Choroideremia, Deafness, and Mental Retardation 21
981 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 18
982 c BMN004 Biemond Syndrome Ii 17
983 CLR029 Clark-Baraitser Syndrome 15
984 P BMN001 Biemond Syndrome 12
985 MN1002 Man1b1-Cdg 8
986 TGL001 Tiglic Acidemia 8
987 CMR003 Camera Marugo Cohen Syndrome 7
988 c BMN003 Biemond Syndrome Type 1 4
989 WNS001 Weinstein Kliman Scully Syndrome 3
990 P DBT085 Diabetes Mellitus, Insulin-Dependent 79
991 FBR012 Fabry Disease 71
992 P TYS001 Tay-Sachs Disease 70
993 P MTC003 Metachromatic Leukodystrophy 70
994 P DMN001 Diamond-Blackfan Anemia 70
995 P KRB001 Krabbe Disease 69
996 P PRK057 Parkinson Disease, Late-Onset 68
997 P CHR071 Charcot-Marie-Tooth Disease 67
998 P NMN002 Niemann-Pick Disease 66
999 GLC006 Galactosemia 66
1000 CHD001 Chediak-Higashi Syndrome 65
1001 c MCP037 Mucopolysaccharidosis is 65
1002 P MCL013 Mucolipidosis Iv 64
1003 INC002 Inclusion Body Myositis 63
1004 c MCP003 Mucopolysaccharidosis Vii 63
1005 P GCH001 Gaucher's Disease 63
1006 CYS013 Cystinuria 63
1007 CRB011 Cerebrotendinous Xanthomatosis 62
1008 c MCP009 Mucopolysaccharidosis Ii 62
1009 MTC007 Mitochondrial Complex I Deficiency 62
1010 c MCP024 Mucopolysaccharidosis Type Vi 61
1011 P HRM001 Hermansky-Pudlak Syndrome 61
1012 P NRN021 Neuronal Ceroid Lipofuscinosis 61
1013 ORN006 Ornithine Transcarbamylase Deficiency 60
1014 c MCP004 Mucopolysaccharidosis Iv 60
1015 P CTR001 Citrullinemia 60
1016 LPP001 Lipoprotein Lipase Deficiency 59
1017 VLC002 Vlcad Deficiency 59
1018 P FCS002 Fucosidosis 59
1019 PTR032 Peters-Plus Syndrome 59
1020 FTT001 Fatty Liver Disease 59
1021 c CHR536 Charcot-Marie-Tooth Disease, Type 1a 58
1022 c NMN013 Niemann-Pick Disease, Type a 58
1023 c MCP001 Mucopolysaccharidosis Iii 58
1024 PYR013 Pyruvate Kinase Deficiency 58
1025 ARG002 Argininosuccinic Aciduria 58
1026 ZLL001 Zellweger Syndrome 58
1027 PRP084 Propionicacidemia 57
1028 DBF001 D-Bifunctional Protein Deficiency 57
1029 BTN003 Biotinidase Deficiency 57
1030 CRN183 Carnitine Palmitoyltransferase Ii Deficiency 56
1031 MVL001 Mevalonic Aciduria 56
1032 ASP002 Aspartylglucosaminuria 56
1033 P HYP724 Hyperlipoproteinemia, Type Iii 56
1034 P MTH008 Methylmalonic Acidemia 56
1035 P INT001 Intrahepatic Cholestasis 56
1036 PRP083 Porphyria, Acute Intermittent 55
1037 HLC001 Holocarboxylase Synthetase Deficiency 55
1038 MCR264 Mcardle Disease 55
1039 DBN001 Dubin-Johnson Syndrome 54
1040 ALK013 Alkaptonuria 54
1041 MLT135 Multiple Sulfatase Deficiency 54
1042 c MNN025 Mannosidosis, Alpha-, Types I and Ii 54
1043 P HYP027 Hypobetalipoproteinemia 54
1044 P GLY010 Glycine Encephalopathy 53
1045 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53
1046 c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53
1047 LYS003 Lysinuric Protein Intolerance 53
1048 CYS010 Cystinosis 53
1049 c PRX045 Peroxisome Biogenesis Disorder 1b 53
1050 c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 53
1051 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1052 c GNG001 Gangliosidosis Gm1 52
1053 APP015 Apparent Mineralocorticoid Excess 52
1054 MTC020 Mitochondrial Complex Ii Deficiency 52
1055 c NMN015 Niemann-Pick Disease, Type C1 51
1056 c PRK031 Parkinson Disease 1 51
1057 ISV001 Isovaleric Acidemia 51
1058 SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51
1059 CRB152 Carbamoylphosphate Synthetase I Deficiency 51
1060 PRP032 Porphyria Variegata 51
1061 NRM003 Norum Disease 51
1062 c DMN023 Diamond-Blackfan Anemia 1 50
1063 ARG007 Argininemia 50
1064 P LMB006 Limb-Girdle Muscular Dystrophy 50
1065 URB001 Urbach-Wiethe Disease 50
1066 P HYP614 Hyperlipidemia, Familial Combined 50
1067 HMZ003 Homozygous Familial Hypercholesterolemia 50
1068 ORT008 Orotic Aciduria 50
1069 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 50
1070 PYC001 Pycnodysostosis 50
1071 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1072 c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 49
1073 DPM001 Dopamine Beta-Hydroxylase Deficiency 49
1074 P GLT023 Glutaric Acidemia Iic 49
1075 P HYP090 Hyperalphalipoproteinemia 49
1076 c ANM036 Anemia, Sideroblastic, 1 49
1077 P HMC002 Homocystinuria 49
1078 c ALB021 Albinism, Oculocutaneous, Type Ii 49
1079 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1080 GLC012 Galactosialidosis 49
1081 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
1082 ALP007 Alpha 1-Antitrypsin Deficiency 48
1083 PRP082 Porphyria, Congenital Erythropoietic 48
1084 c PRK024 Parkinson Disease, Juvenile, Type 2 48
1085 HPT025 Hepatic Lipase Deficiency 48
1086 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1087 P CNG411 Congenital Disorder of Glycosylation, Type in 48
1088 GLY014 Glycerol Kinase Deficiency 47
1089 FRB001 Farber Lipogranulomatosis 47
1090 c PRK027 Parkinson Disease 15, Autosomal Recessive 47
1091 BRN045 Brunner Syndrome 47
1092 OCC006 Occipital Horn Syndrome 47
1093 c CHR527 Charcot-Marie-Tooth Disease, Type 1b 47
1094 CLC001 Calciphylaxis 47
1095 P FML035 Familial Hyperlipidemia 47
1096 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47
1097 c TYR013 Tyrosinemia, Type Ii 47
1098 c FRC011 Fructose Intolerance, Hereditary 46
1099 PRT103 Protoporphyria, Erythropoietic, Autosomal Recessive 46
1100 ATX003 Ataxia with Isolated Vitamin E Deficiency 46
1101 c MCL046 Mucolipidosis Iii Alpha/beta 46
1102 P D2H001 D-2-Hydroxyglutaric Aciduria 46
1103 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46
1104 HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 46
1105 HRT031 Hartnup Disorder 46
1106 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 46
1107 c MNN044 Mannosidosis, Beta 46
1108 WRN002 Wernicke-Korsakoff Syndrome 46
1109 P PSD015 Pseudohypoparathyroidism 46
1110 c CHR537 Charcot-Marie-Tooth Disease, Type 1e 46
1111 HYP088 Hyper-Igd Syndrome 45
1112 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45
1113 ALB002 Albinism 45
1114 SPH010 Sphingolipidosis 45
1115 HST006 Histidinemia 44
1116 HMS001 Hemosiderosis 44
1117 c L2H001 L-2-Hydroxyglutaric Aciduria 44
1118 P SLD010 Sialidosis, Type I 44
1119 SLR001 Sialuria 44
1120 c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44
1121 P SLL003 Salla Disease 44
1122 c SPN308 Spinocerebellar Ataxia 28 44
1123 GLC011 Galactose Epimerase Deficiency 44
1124 GLT007 Glutathione Synthetase Deficiency 43
1125 FSH001 Fish-Eye Disease 43
1126 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
1127 PRN011 Pernicious Anemia 43
1128 c NMN016 Niemann-Pick Disease, Type B 43
1129 SCR002 Scurvy 43
1130 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
1131 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42
1132 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1133 c PRK059 Parkinson Disease 8 42
1134 c CHR530 Charcot-Marie-Tooth Disease, Type 2b 42
1135 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 42
1136 EMP007 Emphysema Due to Aat Deficiency 42
1137 HYP081 Hypolipoproteinemia 42
1138 MLT018 Multiple Carboxylase Deficiency 42
1139 c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42
1140 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42
1141 SLF004 Sulfite Oxidase Deficiency 42
1142 c CHR535 Charcot-Marie-Tooth Disease, Type 1c 42
1143 P TRM004 Trimethylaminuria 41
1144 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 41
1145 KNZ001 Kanzaki Disease 41
1146 c 3MT015 3-Methylglutaconic Aciduria, Type I 41
1147 c HMC010 Hemochromatosis, Type 3 41
1148 FRC001 Fructose-1,6-Bisphosphatase Deficiency 41
1149 c TYR011 Tyrosinemia, Type Iii 41
1150 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 41
1151 GLC009 Glucosephosphate Dehydrogenase Deficiency 41
1152 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
1153 P DWL001 Dowling-Degos Disease 41
1154 c PRK020 Parkinson Disease 6, Early Onset 41
1155 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 41
1156 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 41
1157 c DWL002 Dowling-Degos Disease 1 41
1158 c PRK030 Parkinson Disease 4 41
1159 CRB150 Cerebral Creatine Deficiency Syndrome 2 41
1160 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 40
1161 NLX004 Neu-Laxova Syndrome 1 40
1162 c HMC009 Hemochromatosis Type 2 40
1163 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
1164 FMR004 Fumarase Deficiency 40
1165 c PRK025 Parkinson Disease 10 40
1166 P SDR003 Sideroblastic Anemia 40
1167 MTC008 Mitochondrial Complex Iii Deficiency 40
1168 HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 40
1169 P PLL002 Pellagra 40
1170 c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 40
1171 HMC006 Homocystinuria Due to Mthfr Deficiency 40
1172 PRL019 Prolidase Deficiency 40
1173 c HYP288 Hypercholesterolemia, Due to Ligand-Defective Apo B 40
1174 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 39
1175 c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 39
1176 PYR037 Pyruvate Carboxylase Deficiency 39
1177 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 39
1178 INC022 Inclusion-Cell Disease 39
1179 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1180 c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 39
1181 P CNG003 Congenital Dyserythropoietic Anemia 39
1182 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 39
1183 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 39
1184 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 39
1185 GLC022 Glucose/galactose Malabsorption 39
1186 c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39
1187 TRN021 Transaldolase Deficiency 38
1188 c HMC035 Hemochromatosis, Type 4 38
1189 HYP251 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis 38
1190 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 38
1191 c CHR534 Charcot-Marie-Tooth Disease, Type 1d 38
1192 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 38
1193 PSD029 Pseudocholinesterase Deficiency 38
1194 DHY005 Dihydropyrimidinuria 38
1195 c HYP272 Hypercholesterolemia, Familial, 3 38
1196 P PNT019 Pontocerebellar Hypoplasia 38
1197 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
1198 c ALB009 Albinism, Oculocutaneous, Type Ia 37
1199 c MSC049 Muscular Dystrophy, Limb-Girdle, Type Ic 37
1200 c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 37
1201 c NMN014 Niemann-Pick Disease, Type C2 37
1202 SVR006 Severe Combined Immunodeficiency Due to Ada Deficiency 37
1203 c PRK045 Parkinson Disease 5 37
1204 c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 37
1205 c HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 37
1206 ADN022 Adenylosuccinase Deficiency 37
1207 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1208 GLY015 Glycine N-Methyltransferase Deficiency 37
1209 SBL008 Sea-Blue Histiocyte Disease 37
1210 c CHR531 Charcot-Marie-Tooth Disease, Type 2d 36
1211 c DYS156 Dyserythropoietic Anemia, Congenital, Type Ia 36
1212 BRB001 Beriberi 36
1213 c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 36
1214 c MSC135 Muscular Dystrophy, Limb-Girdle, Type 2y 36
1215 CNZ001 Coenzyme Q10 Deficiency Disease 36
1216 NCT003 N-Acetylglutamate Synthase Deficiency 36
1217 INF129 Infantile Cerebellar-Retinal Degeneration 36
1218 c CHR533 Charcot-Marie-Tooth Disease, Type 1f 36
1219 c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36
1220 c PNT029 Pontocerebellar Hypoplasia Type 2d 36
1221 c PNT034 Pontocerebellar Hypoplasia, Type 2e 36
1222 HYP554 Hyperbilirubinemia, Rotor Type, Digenic 36
1223 c PRX059 Peroxisome Biogenesis Disorder 1a 36
1224 PYR016 Pyridoxine Deficiency 35
1225 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35
1226 c HYP367 Hypercholesterolemia, Familial, Autosomal Recessive 35
1227 c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 35
1228 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 35
1229 IMN002 Iminoglycinuria, Digenic 35
1230 c ERL047 Early-Onset Parkinson Disease 34
1231 MLN011 Malonyl-Coa Decarboxylase Deficiency 34
1232 EPL131 Epilepsy, Pyridoxine-Dependent 34
1233 c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 34
1234 ALP077 Alpha-Methylacetoacetic Aciduria 34
1235 2MT004 2-Methylbutyrylglycinuria 34
1236 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
1237 c PNT010 Pontocerebellar Hypoplasia Type 1 33
1238 c CHR402 Charcot-Marie-Tooth Disease, Type 2a1 33
1239 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 33
1240 LTH002 Lathosterolosis 33
1241 DSM002 Desmosterolosis 33
1242 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1243 c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 33
1244 c CHR528 Charcot-Marie-Tooth Disease, Type 2j 33
1245 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
1246 KSH001 Keshan Disease 33
1247 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
1248 c HYP032 Hyperlipoproteinemia Type Iv 33
1249 SCH030 Schneckenbecken Dysplasia 32
1250 FLT009 Folate Malabsorption, Hereditary 32
1251 CMB019 Combined Oxidative Phosphorylation Deficiency 8 32
1252 c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 32
1253 CRD161 Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type 32
1254 c ALB010 Albinism, Oculocutaneous, Type Ib 32
1255 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 32
1256 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
1257 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 32
1258 MGL016 Megaloblastic Anemia-1, Finnish Type 32
1259 ACT209 Acatalasemia 32
1260 MTC063 Mitochondrial Dna Depletion Syndrome 3 32
1261 WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 32
1262 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
1263 c PRK051 Parkinson Disease 18 32
1264 P SCH017 Schindler Disease 32
1265 c CHR407 Charcot-Marie-Tooth Disease, Type 4f 32
1266 GLC010 Galactokinase Deficiency with Cataracts 32
1267 c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 32
1268 c DMN017 Diamond-Blackfan Anemia 10 32
1269 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
1270 c PRK026 Parkinson Disease 11 31
1271 c PRX060 Peroxisome Biogenesis Disorder 5a 31
1272 c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31
1273 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1274 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31
1275 SRC015 Sarcosinemia 31
1276 c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 30
1277 FRS004 Free Sialic Acid Storage Disorders 30
1278 c PRX063 Peroxisome Biogenesis Disorder 2a 30
1279 c PNT037 Pontocerebellar Hypoplasia, Type 3 30
1280 c CTR142 Citrullinemia, Adult-Onset Type Ii 30
1281 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
1282 c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 30
1283 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
1284 c DMN024 Diamond-Blackfan Anemia 7 30
1285 HWK001 Hawkinsinuria 30
1286 c CHR529 Charcot-Marie-Tooth Disease, Type 2i 30
1287 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30
1288 P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 30
1289 c PNT022 Pontocerebellar Hypoplasia Type 2a 30
1290 CYS019 Cystathioninuria 30
1291 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 30
1292 PNC048 Pancreatic Lipase Deficiency 30
1293 HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 30
1294 c MSC138 Muscular Dystrophy, Limb-Girdle, Type 1g 30
1295 c PNT013 Pontocerebellar Hypoplasia Type 4 30
1296 HMC001 Homocarnosinosis 30
1297 c PRK052 Parkinson Disease 17 30
1298 24D001 2,4-Dienoyl-Coa Reductase Deficiency 30
1299 c DMN006 Diamond-Blackfan Anemia 3 30
1300 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
1301 c DMN018 Diamond-Blackfan Anemia 5 30
1302 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1303 c DMN021 Diamond-Blackfan Anemia 6 30
1304 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 30
1305 c PNT018 Pontocerebellar Hypoplasia, Type 1b 30
1306 HMC038 Hemochromatosis, Neonatal 29
1307 c PNT017 Pontocerebellar Hypoplasia Type 1a 29
1308 P 2HY001 2-Hydroxyglutaric Aciduria 29
1309 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29
1310 P MSC002 Muscular Dystrophy-Dystroglycanopathy 29
1311 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
1312 c GCH013 Gaucher Disease, Type Iiic 29
1313 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
1314 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 29
1315 c DMN019 Diamond-Blackfan Anemia 4 29
1316 c CHR485 Charcot-Marie-Tooth Disease, Type 2r 29
1317 GLY061 Glycogen Storage Disease 0, Muscle 29
1318 c PSD058 Pseudohypoparathyroidism Ic 29
1319 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 29
1320 P CTR014 Cataract Microcornea Syndrome 29
1321 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
1322 LGH016 Leigh Syndrome, French-Canadian Type 29
1323 CMB012 Combined Oxidative Phosphorylation Deficiency 1 29
1324 BLC011 Bile Acid Synthesis Defect, Congenital, 3 28
1325 c DMN020 Diamond-Blackfan Anemia 8 28
1326 c DMN029 Diamond-Blackfan Anemia 11 28
1327 c DYS170 Dyserythropoietic Anemia, Congenital, Type Ii 28
1328 c PRK037 Parkinson Disease 13 28
1329 CPT007 Cpt Ii Deficiency, Infantile 28
1330 PPC001 Pepck 1 Deficiency 28
1331 c ALB020 Albinism, Oculocutaneous, Type Iii 28
1332 c PNT014 Pontocerebellar Hypoplasia Type 5 28
1333 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 28
1334 3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 28
1335 c DMN028 Diamond-Blackfan Anemia 12 28
1336 GLT005 Glutamate Formiminotransferase Deficiency 28
1337 CMB011 Combined Malonic and Methylmalonic Aciduria 28
1338 SCR037 Sucrase-Isomaltase Deficiency, Congenital 28
1339 GLY031 Glycoproteinosis 28
1340 CNG016 Congenital Intrinsic Factor Deficiency 28
1341 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
1342 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28
1343 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 27
1344 c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27
1345 c DMN022 Diamond-Blackfan Anemia 9 27
1346 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 27
1347 c PRX054 Peroxisome Biogenesis Disorder 12a 27
1348 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 27
1349 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 27
1350 c PRK070 Parkinson Disease 21 27
1351 c PRX055 Peroxisome Biogenesis Disorder 11a 27
1352 c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 27
1353 CMB026 Combined Oxidative Phosphorylation Deficiency 12 27
1354 MCR257 Microcephaly, Amish Type 27
1355 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27
1356 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 27
1357 EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 27
1358 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 26
1359 c SNC002 Snca-Related Parkinson Disease 26
1360 c PNT032 Pontocerebellar Hypoplasia, Type 9 26
1361 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
1362 SCC010 Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 26
1363 c PNT033 Pontocerebellar Hypoplasia, Type 10 26
1364 c PNT020 Pontocerebellar Hypoplasia Type 2b 26
1365 P HYP279 Hypercholanemia, Familial 26
1366 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26
1367 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
1368 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
1369 c PRX057 Peroxisome Biogenesis Disorder 4a 26
1370 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 26
1371 c ALB017 Albinism, Oculocutaneous, Type Vi 26
1372 5XP001 5-Oxoprolinase Deficiency 26
1373 MND023 Mend Syndrome 26
1374 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
1375 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
1376 P XLN161 X-Linked Chondrodysplasia Punctata 26
1377 c PRX091 Peroxisome Biogenesis Disorder 8a 26
1378 PHS016 Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 26
1379 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 26
1380 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25
1381 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 25
1382 CNG002 Congenital Bile Acid Synthesis Defect 25
1383 c HYP302 Hypomagnesemia 4, Renal 25
1384 c PRK065 Parkinson Disease 20, Early-Onset 25
1385 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1386 c PRX048 Peroxisome Biogenesis Disorder 10a 25
1387 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
1388 c DYS167 Dyserythropoietic Anemia, Congenital, Type Iii 25
1389 c PRX053 Peroxisome Biogenesis Disorder 14b 25
1390 MTC055 Mitochondrial Dna Depletion Syndrome 4b 25
1391 c PRX046 Peroxisome Biogenesis Disorder 7a 25
1392 c DYS168 Dyserythropoietic Anemia, Congenital, Type Iv 25
1393 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 25
1394 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 25
1395 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 25
1396 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25
1397 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1398 c CHR419 Charcot-Marie-Tooth Disease, Recessive Intermediate, B 25
1399 MTC037 Mitochondrial Phosphate Carrier Deficiency 25
1400 P PRX051 Peroxisome Biogenesis Disorder 6a 25
1401 HYP269 Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 24
1402 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
1403 c PRK071 Parkinson Disease 14, Autosomal Recessive 24
1404 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
1405 MTC025 Mitochondrial Myopathy with Diabetes 24
1406 c DYS155 Dyserythropoietic Anemia, Congenital, Type Ib 24
1407 c HYP289 Hyperlipoproteinemia, Type Ib 24
1408 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
1409 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 24
1410 CMB014 Combined Oxidative Phosphorylation Deficiency 3 24
1411 c PRK022 Parkinson Disease 12 24
1412 c PRX050 Peroxisome Biogenesis Disorder 9b 24
1413 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
1414 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 24
1415 CYS025 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic 24
1416 BLC016 Bile Acid Synthesis Defect, Congenital, 5 23
1417 c HYP592 Hyperlipoproteinemia, Type 1d 23
1418 c PNT039 Pontocerebellar Hypoplasia, Type 7 23
1419 c HRD173 Hereditary Late-Onset Parkinson Disease 23
1420 c PRX047 Peroxisome Biogenesis Disorder 5b 23
1421 c PNT021 Pontocerebellar Hypoplasia Type 2c 23
1422 c PNT035 Pontocerebellar Hypoplasia, Type 1c 23
1423 FTL003 Fatal Infantile Encephalocardiomyopathy 23
1424 SCC002 Saccharopinuria 23
1425 c HYP290 Hypobetalipoproteinemia, Familial, 2 23
1426 LCT017 Lactate Dehydrogenase B Deficiency 23
1427 P PNT006 Pentosuria 23
1428 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 22
1429 c CHR142 Charcot-Marie-Tooth Disease Type 2f 22
1430 PHS023 Phosphoserine Aminotransferase Deficiency 22
1431 CMB025 Combined Oxidative Phosphorylation Deficiency 10 22
1432 TRN067 Transcobalamin I Deficiency 22
1433 c CHR424 Charcot-Marie-Tooth Disease, Recessive Intermediate, a 22
1434 c PRK007 Parkinson Disease Type 3 22
1435 c DMN040 Diamond-Blackfan Anemia 16 22
1436 CMB008 Combined Oxidative Phosphorylation Deficiency 22
1437 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
1438 c PRX062 Peroxisome Biogenesis Disorder 8b 22
1439 PLY120 Polyglucosan Body Disease, Adult Form 22
1440 c PRX058 Peroxisome Biogenesis Disorder 4b 22
1441 CRD165 Ceroid Lipofuscinosis, Neuronal, Kufs Type, Adult Onset 22
1442 c PRX043 Peroxisome Biogenesis Disorder 6b 22
1443 HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 22
1444 c DMN005 Diamond-Blackfan Anemia 2 22
1445 c HYP597 Hyperprolinemia, Type Ii 22
1446 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 21
1447 CRN042 Carnosinemia 21
1448 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 21
1449 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 21
1450 MLD010 Mild Phenylketonuria 21
1451 c PRK079 Parkinson Disease 23, Autosomal Recessive, Early Onset 21
1452 P INT262 Intermediate Maple Syrup Urine Disease 21
1453 c DMN030 Diamond-Blackfan Anemia 13 21
1454 URC006 Urocanase Deficiency 21
1455 c PRX056 Peroxisome Biogenesis Disorder 11b 21
1456 HYD030 Hydroxykynureninuria 21
1457 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
1458 c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 21
1459 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
1460 c D2H003 D-2-Hydroxyglutaric Aciduria 2 20
1461 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
1462 c CTR164 Cataract 47, Juvenile, with Microcornea 20
1463 c PRX068 Peroxisome Biogenesis Disorder 7b 20
1464 ERY044 Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency 20
1465 CMB047 Combined Oxidative Phosphorylation Deficiency 18 20
1466 c PRK008 Parkinson Disease Type 9 20
1467 c PRK058 Parkinson Disease 16 20
1468 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20
1469 c DMN039 Diamond-Blackfan Anemia 17 19
1470 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 19
1471 VRR003 Verruciform Xanthoma of Skin 19
1472 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
1473 FTL054 Fatal Infantile Cytochrome C Oxidase Deficiency 18
1474 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 18
1475 c PRX066 Peroxisome Biogenesis Disorder 3b 18
1476 TRH001 Trehalase Deficiency 18
1477 c PRX064 Peroxisome Biogenesis Disorder 2b 18
1478 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 17
1479 c HYP333 Hyperlipidemia, Combined, 2 17
1480 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 17
1481 c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 17
1482 c LRR001 Lrrk2-Related Parkinson Disease 17
1483 c DWL003 Dowling-Degos Disease 2 17
1484 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 17
1485 c ATS210 Autosomal Recessive Sideroblastic Anemia 17
1486 CMB072 Combined Oxidative Phosphorylation Deficiency 28 17
1487 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 17
1488 BLC018 Bile Acid Synthesis Defect, Congenital, 6 17
1489 c PL2003 Pla2g6-Related Parkinson Disease 17
1490 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1491 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1492 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 16
1493 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
1494 c JVN052 Juvenile-Onset Parkinson Disease 16
1495 GLT008 Glutathioninuria 16
1496 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 16
1497 c ANM034 Anemia, Sideroblastic, 4 16
1498 c PRX089 Peroxisome Biogenesis Disorder 10b 16
1499 GBM001 Gaba Aminotransferase Deficiency 16
1500 c CHR551 Charcot-Marie-Tooth Disease Type 2o 16
1501 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1502 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1503 c CHN018 Chondrodysplasia Punctata 2, X-Linked 16
1504 c HYP163 Hyperlipidemia Type 3 16
1505 c DWL004 Dowling-Degos Disease 4 16
1506 c HYP684 Hypertryptophanemia, Familial 15
1507 c CHR577 Charcot-Marie-Tooth Disease Type 2t 15
1508 c CHR549 Charcot-Marie-Tooth Disease Type 2l 15
1509 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 15
1510 c PLL006 Pellagra Like Syndrome 14
1511 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 14
1512 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14
1513 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
1514 c ESS007 Essential Pentosuria 13
1515 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
1516 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
1517 DBS003 Dibasic Amino Aciduria I 13
1518 c PRK083 Parkinson Disease 22, Autosomal Dominant 13
1519 c NRN030 Neuronal Ceroid Lipofuscinosis 4a 13
1520 c CHR571 Charcot-Marie-Tooth Disease Type 5 13
1521 c CHR550 Charcot-Marie-Tooth Disease Type 2n 13
1522 c CHR572 Charcot-Marie-Tooth Disease Type 7 13
1523 c VPS003 Vps35-Related Parkinson Disease 13
1524 c ABC009 Abcb11-Related Intrahepatic Cholestasis 12
1525 c FBX001 Fbxo7-Related Parkinson Disease 12
1526 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1527 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 12
1528 c CHN017 Chondrodysplasia Punctata 1, X-Linked 12
1529 c CHR624 Charcot-Marie-Tooth Disease Type 2b5 12
1530 P ACQ013 Acquired Fructose Intolerance 12
1531 c CHR553 Charcot-Marie-Tooth Disease Type 2q 11
1532 c ATS362 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w 11
1533 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
1534 c EF4001 Eif4g1-Related Parkinson Disease 10
1535 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 10
1536 c RPS005 Rps19-Related Diamond-Blackfan Anemia 10
1537 c DWL005 Dowling-Degos Disease 3 10
1538 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1539 c GLT029 Glutaric Acidemia Type Iii 10
1540 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
1541 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
1542 ATS300 Autosomal Dominant Optic Atrophy, Classic Form 10
1543 c GGY001 Gigyf2-Related Parkinson Disease 10
1544 c HTR006 Htra2-Related Parkinson Disease 10
1545 c ATP006 Atp8b1-Related Intrahepatic Cholestasis 10
1546 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
1547 c SYN072 Synj1-Related Parkinson Disease 9
1548 c FCS008 Fucosidosis Type 1 9
1549 INT043 Intestinal Disaccharidase Deficiency 9
1550 c RPL003 Rpl5-Related Diamond-Blackfan Anemia 9
1551 c RPS003 Rps10-Related Diamond-Blackfan Anemia 9
1552 c RPS006 Rps24-Related Diamond-Blackfan Anemia 9
1553 c RPS007 Rps26-Related Diamond-Blackfan Anemia 9
1554 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 9
1555 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 8
1556 c DNJ003 Dnajc6-Related Parkinson Disease 8
1557 c PRK015 Park7-Related Parkinson Disease 8
1558 c INT094 Intermediate Severe Salla Disease 8
1559 c RPL001 Rpl11-Related Diamond-Blackfan Anemia 8
1560 c RPL005 Rpl15-Related Diamond-Blackfan Anemia 8
1561 c RPL002 Rpl35a-Related Diamond-Blackfan Anemia 8
1562 c RPS004 Rps17-Related Diamond-Blackfan Anemia 8
1563 c RPS008 Rps7-Related Diamond-Blackfan Anemia 8
1564 c PSD023 Pseudo-Gaucher Disease 8
1565 P HYP187 Hypertryptophanemia 8
1566 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 8
1567 c TSN001 Tsen2-Related Pontocerebellar Hypoplasia 8
1568 c TSN002 Tsen34-Related Pontocerebellar Hypoplasia 8
1569 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 7
1570 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 7
1571 c LDL002 Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant 7
1572 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1573 SYN085 Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 7
1574 FTL050 Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency 6
1575 c PRM209 Primary Trimethylaminuria 6
1576 c PCS001 Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant 6
1577 c GT1008 Gata1-Related Diamond-Blackfan Anemia 6
1578 c RPL004 Rpl26-Related Diamond-Blackfan Anemia 6
1579 c SDR005 Sideroblastic Anemia Acquired 6
1580 c ATS269 Autosomal Dominant Sideroblastic Anemia 6
1581 ERL048 Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome 6
1582 c LDL003 Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive 6
1583 c APB001 Apob-Related Familial Hypercholesterolemia, Autosomal Dominant 6
1584 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 5
1585 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 5
1586 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
1587 INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1588 c BTR003 Baat-Related Familial Hypercholanemia 5
1589 c EPH002 Ephx1-Related Familial Hypercholanemia 5
1590 c TJP001 Tjp2-Related Familial Hypercholanemia 5
1591 c CTP001 Cetp-Related Hyperalphalipoproteinemia 5
1592 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 3
1593 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 3
1594 ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 32
1595 MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19
1596 GLT021 Glutaricaciduria, Type I 39
1597 3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 26
1598 MTC026 Mitochondrial Myopathy with Lactic Acidosis 27
1599 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1600 P HYP658 Hypoplastic Amelogenesis Imperfecta 26
1601 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 11
1602 MNT260 Mental Retardation, X-Linked, Syndromic, Wilson-Turner Type 9
1603 P HYP607 Hypercholesterolemia, Familial 75
1604 WLS001 Wilson Disease 73
1605 P LVR013 Liver Disease 72
1606 P HMC003 Hemochromatosis 72
1607 ADR007 Adrenoleukodystrophy 72
1608 PHN003 Phenylketonuria 72
1609 P LGH007 Leigh Syndrome 69
1610 P CRB042 Cerebellar Ataxia 69
1611 CNG368 Congenital Adrenal Hyperplasia 63
1612 MNK001 Menkes Disease 63
1613 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62
1614 HYP121 Hypoalphalipoproteinemia 61
1615 P RFS001 Refsum Disease 61
1616 LWS003 Lowe Syndrome 59
1617 HYP020 Hyperprolactinemia 59
1618 P CRG003 Crigler-Najjar Syndrome, Type I 59
1619 CHL071 Child Syndrome 59
1620 P HYP192 Hypocalcemia, Autosomal Dominant 58
1621 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 56
1622 P DBT083 Diabetes Mellitus, Permanent Neonatal 56
1623 TRF001 Trifunctional Protein Deficiency 55
1624 c TYR012 Tyrosinemia, Type I 55
1625 P CNV004 Canavan Disease 55
1626 c GCH015 Gaucher Disease, Type I 54
1627 CPR001 Coproporphyria 54
1628 c MPL012 Maple Syrup Urine Disease, Type Ii 54
1629 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 53
1630 BRT005 Barth Syndrome 53
1631 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
1632 P HYP097 Hyperekplexia 52
1633 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 52
1634 CHY002 Chylomicron Retention Disease 52
1635 MTC097 Mitochondrial Complex Iv Deficiency 51
1636 ETH011 Ethylmalonic Encephalopathy 51
1637 P HYP370 Hypokalemic Periodic Paralysis, Type 1 51
1638 c OPT055 Optic Atrophy Plus Syndrome 50
1639 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 50
1640 MTC057 Mitochondrial Recessive Ataxia Syndrome 50
1641 CHN055 Chanarin-Dorfman Syndrome 50
1642 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 49
1643 ATR002 Atransferrinemia 49
1644 CRN239 Carnitine Deficiency, Systemic Primary 49
1645 P NRD007 Neurodegeneration with Brain Iron Accumulation 49
1646 PPL049 Papillon-Lefevre Syndrome 49
1647 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 49
1648 NNT017 Neonatal Adrenoleukodystrophy 49
1649 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 48
1650 FML026 Familial Lipoprotein Lipase Deficiency 48
1651 DNN001 Danon Disease 48
1652 c ACT134 Acute Liver Failure 48
1653 P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 48
1654 P HYP366 Hyperkalemic Periodic Paralysis, Type 2 47
1655 P FML068 Familial Hypocalciuric Hypercalcemia 47
1656 c GCH017 Gaucher Disease, Type Iii 47
1657 NPH003 Nephrocalcinosis 47
1658 c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 46
1659 P CRB019 Cerebral Amyloid Angiopathy 46
1660 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
1661 c ATS308 Autosomal Dominant Cerebellar Ataxia 46
1662 c OPT053 Optic Atrophy 1 46
1663 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 45
1664 P KRN004 Kernicterus 45
1665 c CHL081 Cholestasis, Progressive Familial Intrahepatic 2 45
1666 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44
1667 c CHL082 Cholestasis, Progressive Familial Intrahepatic 3 44
1668 P PRM001 Primary Cutaneous Amyloidosis 44
1669 P PLM085 Pulmonary Hemosiderosis 44
1670 HYP286 Hyperchylomicronemia, Late-Onset 43
1671 c GCH016 Gaucher Disease, Type Ii 43
1672 GYR003 Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 43
1673 IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42
1674 c HRM017 Hermansky-Pudlak Syndrome 2 42
1675 CPT003 Cpt Deficiency, Hepatic, Type Ia 42
1676 CYS036 Cystinosis, Nephropathic 42
1677 HYP101 Hyperinsulinism-Hyperammonemia Syndrome 42
1678 FML036 Familial Periodic Paralysis 41
1679 LCH005 Lchad Deficiency 41
1680 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 41
1681 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 40
1682 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 40
1683 c PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 40
1684 c HYP317 Hypocalciuric Hypercalcemia, Type Ii 39
1685 HYP036 Hyperlysinemia 39
1686 c 3MT014 3-Methylglutaconic Aciduria, Type V 39
1687 c HYP314 Hypocalciuric Hypercalcemia, Type I 39
1688 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39
1689 c CHL120 Cholestasis, Benign Recurrent Intrahepatic 38
1690 CNG436 Congenital Disorder of Deglycosylation 38
1691 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 38
1692 c HYP725 Hypocalciuric Hypercalcemia, Type Iii 38
1693 P AMY084 Amyloidosis, Finnish Type 37
1694 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37
1695 NTR007 Neutral Lipid Storage Disease with Myopathy 37
1696 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36
1697 GRN039 Greenberg Skeletal Dysplasia 36
1698 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36
1699 P PRR025 Perrault Syndrome 36
1700 DCR008 Dicarboxylic Aminoaciduria 36
1701 MTC061 Mitochondrial Dna Depletion Syndrome 1 36
1702 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 35
1703 SNG007 Sengers Syndrome 35
1704 DBT090 Diabetes and Deafness, Maternally Inherited 35
1705 IMM080 Immunodeficiency 23 35
1706 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 34
1707 WRN004 Wrinkly Skin Syndrome 34
1708 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
1709 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 34
1710 c HYP210 Hypomagnesemia 2, Renal 34
1711 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 33
1712 SLT014 Salt and Pepper Developmental Regression Syndrome 33
1713 c SCH069 Schindler Disease, Type I 33
1714 CKS001 Ck Syndrome 32
1715 c HYP606 Hypokalemic Periodic Paralysis, Type 2 32
1716 HMM002 Haim-Munk Syndrome 32
1717 GLT031 Glut1 Deficiency Syndrome 1, Infantile Onset, Severe 32
1718 LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 31
1719 GCH018 Gaucher Disease, Perinatal Lethal 31
1720 SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 31
1721 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1722 P PRM016 Primary Optic Atrophy 31
1723 c HYP623 Hyperuricemic Nephropathy, Familial Juvenile 1 31
1724 AMN007 Aminoacylase 1 Deficiency 31
1725 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 30
1726 GLY058 Glycogen Storage Disease 0, Liver 30
1727 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 30
1728 TMR012 Tumoral Calcinosis, Familial, Normophosphatemic 29
1729 BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
1730 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 29
1731 c ATS307 Autosomal Recessive Cerebellar Ataxia 29
1732 c OPT057 Optic Atrophy 7 29
1733 BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
1734 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 29
1735 P HYP534 Hypomagnesemia 3, Renal 29
1736 c OPT023 Optic Atrophy 2 29
1737 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 29
1738 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 28
1739 c LVR028 Liver Failure, Transient Infantile 28
1740 P HYP716 Hypermanganesemia with Dystonia 1 28
1741 c CHL083 Cholestasis, Progressive Familial Intrahepatic 4 27
1742 CRD169 Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 27
1743 c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27
1744 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 27
1745 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 26
1746 MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
1747 DFN122 Deafness, Mitochondrial, Modifier of 26
1748 c OPT065 Optic Atrophy 9 25
1749 c HYP445 Hypomagnesemia 6, Renal 25
1750 ART103 Arthrogryposis, Mental Retardation, and Seizures 25
1751 c OPT064 Optic Atrophy 11 25
1752 GLT011 Glutamine Deficiency, Congenital 25
1753 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 25
1754 c SPS208 Spastic Ataxia 4, Autosomal Recessive 25
1755 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 25
1756 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
1757 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
1758 c OPT060 Optic Atrophy 8 24
1759 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 24
1760 HSD004 Hsd10 Mitochondrial Disease 24
1761 c INF145 Infantile Liver Failure Syndrome 1 24
1762 c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 24
1763 CYS024 Cystinosis, Ocular Nonnephropathic 24
1764 c PRR020 Perrault Syndrome 1 23
1765 c OPT025 Optic Atrophy 6 23
1766 P HYP616 Hyperuricemic Nephropathy, Familial Juvenile 2 23
1767 OCL012 Ocular Albinism with Sensorineural Deafness 22
1768 c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 22
1769 c OPT024 Optic Atrophy 5 21
1770 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
1771 c PRR024 Perrault Syndrome 3 21
1772 c LGH008 Leigh-Like Syndrome 21
1773 c PRR026 Perrault Syndrome 5 20
1774 c HYP519 Hyperekplexia 3 20
1775 c PRR021 Perrault Syndrome 4 20
1776 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 20
1777 c INF138 Infantile Liver Failure Syndrome 2 19
1778 c HYP536 Hyperekplexia 2, Autosomal Recessive 19
1779 c FML249 Familial Amyloidosis, Finnish Type 19
1780 c ATP003 Atp6v0a2-Related Cutis Laxa 19
1781 c RFS003 Refsum Disease, Infantile Form 19
1782 c HYP699 Hyperekplexia 1 18
1783 c PRR022 Perrault Syndrome 2 18
1784 c OPT059 Optic Atrophy 4 17
1785 c HYP713 Hypermanganesemia with Dystonia 2 17
1786 CPP001 Copper Deficiency, Familial Benign 16
1787 P FML257 Familial Pseudohyperkalemia 16
1788 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 15
1789 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 15
1790 c HRD084 Hereditary Cerebral Amyloid Angiopathy 15
1791 c HYP142 Hyperkalemic Periodic Paralysis Type 1 14
1792 c SPR097 Sporadic Hyperekplexia 12
1793 c PRR033 Perrault Syndrome 6 12
1794 c KRN003 Kernicterus Due to Isoimmunization 12
1795 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 11
1796 c SCN047 Secondary Pulmonary Hemosiderosis 10
1797 c SYN013 Syne1-Related Autosomal Recessive Cerebellar Ataxia 9
1798 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 7
1799 c PX7001 Pex7-Related Refsum Disease 6
1800 c HYP245 Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related 6
1801 c HYP246 Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related 6
1802 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1803 c ARH002 Arhgef9-Related Hyperekplexia 6
1804 c GLR001 Glra1-Related Hyperekplexia 6
1805 c GLR002 Glrb-Related Hyperekplexia 6
1806 c GPH001 Gphn-Related Hyperekplexia 6
1807 c SLC017 Slc6a5-Related Hyperekplexia 6
1808 c PHY003 Phyh-Related Refsum Disease 5
1809 c HYP244 Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related 5
1810 c ABC011 Abcc8-Related Permanent Neonatal Diabetes Mellitus 5
1811 c GCK002 Gck-Related Permanent Neonatal Diabetes Mellitus 5
1812 c INS012 Ins-Related Permanent Neonatal Diabetes Mellitus 5
1813 c KCN005 Kcnj11-Related Permanent Neonatal Diabetes Mellitus 5
1814 c PDX001 Pdx1-Related Permanent Neonatal Diabetes Mellitus 5
1815 LGH018 Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome 4
1816 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
1817 CYS001 Cystic Fibrosis 86
1818 SMT004 Smith-Lemli-Opitz Syndrome 69
1819 P PRP003 Porphyria Cutanea Tarda 64
1820 TNG002 Tangier Disease 62
1821 LSC001 Lesch-Nyhan Syndrome 62
1822 ABT001 Abetalipoproteinemia 59
1823 MSC077 Muscle Eye Brain Disease 58
1824 WLM001 Wolman Disease 58
1825 KRN002 Kearns-Sayre Syndrome 57
1826 GLB001 Gilbert Syndrome 56
1827 PSD014 Pseudopseudohypoparathyroidism 55
1828 LBR030 Leber Optic Atrophy 54
1829 c PSD067 Pseudohypoparathyroidism Ia 54
1830 WLK001 Walker-Warburg Syndrome 52
1831 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51
1832 P FML012 Familial Partial Lipodystrophy 51
1833 P SJG002 Sjogren-Larsson Syndrome 51
1834 c LPD015 Lipodystrophy, Familial Partial, Type 2 51
1835 ACR003 Acrodermatitis Enteropathica 50
1836 RNL024 Renal Glucosuria 50
1837 P OST028 Osteochondroma 47
1838 CRB151 Cerebral Creatine Deficiency Syndrome 1 46
1839 MTC056 Mitochondrial Dna Depletion Syndrome 4a 45
1840 PRS127 Pearson Marrow-Pancreas Syndrome 43
1841 c HRD104 Hereditary Multiple Osteochondromas 43
1842 PRM237 Primary Hypomagnesemia 43
1843 MTC054 Mitochondrial Dna Depletion Syndrome 7 39
1844 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 38
1845 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 38
1846 HYP550 Hypomagnesemia 1, Intestinal 38
1847 OPT049 Optic Atrophy 3 with Cataract 35
1848 c LPD019 Lipodystrophy, Partial, Acquired 35
1849 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
1850 BLC007 Bile Acid Synthesis Defect, Congenital, 1 34
1851 c MNT149 Mental Retardation, X-Linked 3 33
1852 BJR001 Bjornstad Syndrome 32
1853 DBR002 De Barsy Syndrome 31
1854 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
1855 c MNT198 Mental Retardation, X-Linked 98 29
1856 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 28
1857 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
1858 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
1859 c MNT248 Mental Retardation, X-Linked 102 25
1860 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1861 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 25
1862 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1863 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 24
1864 c MNT249 Mental Retardation, X-Linked 12/35 22
1865 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 21
1866 c MNT223 Mental Retardation, X-Linked 100 21
1867 c MNT224 Mental Retardation, X-Linked 101 21
1868 c XLN042 X-Linked Mental Retardation 21 21
1869 c MNT203 Mental Retardation, X-Linked 30/47 20
1870 c MNT194 Mental Retardation, X-Linked 50 20
1871 c MNT196 Mental Retardation, X-Linked 92 20
1872 c MNT292 Mental Retardation, X-Linked 1/78 19
1873 c MNT195 Mental Retardation, X-Linked 96 19
1874 c MNT218 Mental Retardation, X-Linked 99 19
1875 c MNT288 Mental Retardation, X-Linked 49/15 19
1876