Metabolic Diseases Category (1844 diseases)


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

# Family MCID Name MIFTS
1 BDY004 Body Mass Index Quantitative Trait Locus 11 75
2 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 36
3 c INH020 Inherited Metabolic Disorder 49
4 CRB025 Carbohydrate Metabolic Disorder 38
5 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 54
6 NTR005 Nutritional Deficiency Disease 46
7 LPD008 Lipid Metabolism Disorder 59
8 LPT006 Leptin Receptor Deficiency 36
9 MMS001 Momo Syndrome 32
10 DRG021 Drug Metabolism, Poor, Cyp2c19-Related 28
11 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 11
12 AMN002 Amino Acid Metabolic Disorder 38
13 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 27
14 LPT014 Leptin Deficiency or Dysfunction 37
15 HYD021 Hydrocephalus Obesity Hypogonadism 16
16 CHN016 Cohen Syndrome 48
17 PHS001 Phosphorus Metabolism Disease 34
18 RCR029 Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 7
19 P THP004 Thiopurines, Poor Metabolism of, 1 33
20 CNG376 Congenital Leptin Deficiency 21
21 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 25
22 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
23 MRB003 Morbid Obesity 61
24 URC002 Urea Cycle Disorder 50
25 BDY005 Body Mass Index Quantitative Trait Locus 9 49
26 BDY019 Body Mass Index Quantitative Trait Locus 18 48
27 BDY017 Body Mass Index Quantitative Trait Locus 14 46
28 BDY015 Body Mass Index Quantitative Trait Locus 12 46
29 BDY010 Body Mass Index Quantitative Trait Locus 4 45
30 IRN002 Iron Metabolism Disease 45
31 BDY012 Body Mass Index Quantitative Trait Locus 7 42
32 BDY006 Body Mass Index Quantitative Trait Locus 8 42
33 PRP037 Proopiomelanocortin Deficiency 34
34 INB001 Inborn Amino Acid Metabolism Disorder 16
35 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
36 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 29
37 P PRP029 Porphyria 62
38 c ACT078 Acute Porphyria 48
39 MNR003 Mineral Metabolism Disease 33
40 MTL002 Metal Metabolism Disorder 30
41 PRP098 Proprotein Convertase 1/3 Deficiency 28
42 PYR035 Pyrimidine Metabolic Disorder 23
43 THY064 Thyroid Hormone Metabolism, Abnormal 19
44 CHP002 Chops Syndrome 40
45 GLC008 Glucose Metabolism Disease 38
46 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
47 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
48 OBS037 Obesity-Hypoventilation Syndrome 45
49 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 45
50 ORG002 Organic Acidemia 38
51 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 35
52 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 32
53 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 22
54 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
55 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 22
56 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 22
57 MTB004 Metabolic Acidosis 49
58 MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 39
59 SRF006 Surfactant Dysfunction 37
60 MTC005 Mitochondrial Metabolism Disease 33
61 MTH021 Methylmalonic Acidemia with Homocystinuria 31
62 RHH001 Rohhad 27
63 STR018 Steroid Inherited Metabolic Disorder 27
64 PRN024 Purine-Pyrimidine Metabolic Disorder 24
65 HST007 Histidine Metabolism Disease 23
66 MRB006 Morbid Obesity and Spermatogenic Failure 20
67 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 20
68 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 19
69 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 15
70 BDY011 Body Mass Index Quantitative Trait Locus 10 45
71 CLP006 Clopidogrel Resistance 42
72 MRS001 Marasmus 39
73 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
74 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
75 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 10
76 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
77 DSR002 Disorders of Intracellular Cobalamin Metabolism 5
78 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 3
79 LYS002 Lysosomal Storage Disease 56
80 BLR008 Bilirubin Metabolic Disorder 45
81 OBS015 Obesity, Hyperphagia, and Developmental Delay 31
82 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 25
83 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 19
84 P ACQ009 Acquired Metabolic Disease 32
85 PLS010 Plasma Protein Metabolism Disease 26
86 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21
87 RTN173 Retinal Dystrophy and Obesity 21
88 VTM003 Vitamin Metabolic Disorder 20
89 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 19
90 c THP005 Thiopurines, Poor Metabolism of, 2 12
91 P MGL001 Megaloblastic Anemia 52
92 ACT149 Acetaminophen Metabolism 39
93 DRG020 Drug Metabolism, Poor, Cyp2d6-Related 23
94 ANT078 Antipyrine Metabolism 22
95 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
96 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
97 ERY030 Erythrocyte Lactate Transporter Defect 18
98 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 17
99 ZNC006 Zinc, Elevated Plasma 17
100 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17
101 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 17
102 SHR107 Short Stature-Obesity Syndrome 15
103 NTR002 Nutritional Optic Neuropathy 14
104 OBS060 Obesity Due to Sim1 Deficiency 12
105 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
106 XLN208 X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome 9
107 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
108 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 8
109 CHR069 Chronic Metabolic Polyneuropathy 4
110 HYL006 Hyaluronan Metabolism, Defect in 3
111 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 3
112 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89
113 P DBT009 Diabetes Mellitus 72
114 P AMY004 Amyloidosis 69
115 c HRD010 Hereditary Spastic Paraplegia 68
116 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
117 c GLY008 Glycogen Storage Disease Ii 64
118 HYP066 Hyperglycemia 64
119 c LPM012 Lipomatosis, Multiple 64
120 GST033 Gestational Diabetes 62
121 P CTS001 Cutis Laxa 62
122 HYP056 Hypoglycemia 62
123 P HML002 Hemolytic Anemia 62
124 P GLY013 Glycogen Storage Disease 61
125 P MCP040 Mucopolysaccharidosis-Plus Syndrome 61
126 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
127 c SPN294 Spinocerebellar Ataxia 1 58
128 P ENC018 Encephalopathy 58
129 GLC003 Glucose Intolerance 58
130 c GLY060 Glycogen Storage Disease Ia 57
131 P OCL002 Oculocutaneous Albinism 57
132 c ANM038 Anemia, Autoimmune Hemolytic 56
133 c ALM001 Al Amyloidosis 56
134 c GLY003 Glycogen Storage Disease Iii 56
135 HYP060 Hyperinsulinism 56
136 P SPN301 Spinocerebellar Ataxia 2 56
137 IRN001 Iron Deficiency Anemia 55
138 P HYP050 Hyperinsulinemic Hypoglycemia 55
139 c GLY004 Glycogen Storage Disease V 55
140 P HYP014 Hyperuricemia 54
141 MCR004 Macroglobulinemia 54
142 OVR063 Overnutrition 53
143 P PRM002 Primary Hyperoxaluria 53
144 HYP005 Hypokalemia 53
145 XNT003 Xanthomatosis 53
146 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 53
147 P MTC133 Mitochondrial Myopathy 53
148 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
149 LPD009 Lipid Storage Disease 53
150 PRT038 Protein-Energy Malnutrition 52
151 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 52
152 c SPN291 Spinocerebellar Ataxia 7 52
153 c MCP043 Mucopolysaccharidosis, Type Iiia 52
154 CLC006 Calcinosis 51
155 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
156 c GLY005 Glycogen Storage Disease Vi 51
157 c GLY007 Glycogen Storage Disease Iv 51
158 P LCT001 Lactic Acidosis 51
159 P NGH001 Night Blindness 51
160 P LPM005 Lipomatosis 50
161 DBT084 Diabetes Mellitus, Ketosis-Prone 50
162 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50
163 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
164 c GLY011 Glycogen Storage Disease Vii 48
165 P NNT009 Neonatal Diabetes Mellitus 48
166 P HYP058 Hypervitaminosis a 48
167 P LCT002 Lactose Intolerance 48
168 P TYR004 Tyrosinemia 48
169 c AMY009 Amyloidosis Aa 48
170 HYP025 Hyperphosphatemia 48
171 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48
172 c SPN309 Spinocerebellar Ataxia 6 48
173 WRN003 Wernicke Encephalopathy 47
174 c HRD039 Hereditary Amyloidosis 47
175 c SPN293 Spinocerebellar Ataxia 12 47
176 TRN022 Transcobalamin Ii Deficiency 47
177 HYP347 Hypotonia-Cystinuria Syndrome 47
178 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
179 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47
180 P OCL001 Ocular Albinism 46
181 c CNG027 Congenital Hemolytic Anemia 46
182 c SPN296 Spinocerebellar Ataxia 17 46
183 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 46
184 VTM002 Vitamin B12 Deficiency 46
185 c SPN314 Spinocerebellar Ataxia 10 46
186 PRD004 Prediabetes Syndrome 46
187 c MCP044 Mucopolysaccharidosis, Type Iiib 45
188 HYP017 Hypophosphatemia 45
189 c MCP047 Mucopolysaccharidosis, Type Iva 44
190 c ALB024 Albinism, Ocular, Type I 44
191 c CHR095 Chronic Progressive External Ophthalmoplegia 44
192 P MNN018 Mannosidosis 44
193 c SPN100 Spinocerebellar Ataxia 27 44
194 LPP002 Lipoprotein Glomerulopathy 44
195 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43
196 c SPN305 Spinocerebellar Ataxia 11 43
197 c XNT010 Xanthinuria, Type I 43
198 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43
199 P INF016 Infantile Epileptic Encephalopathy 43
200 c SPN312 Spinocerebellar Ataxia 14 43
201 CLS049 Classic Phenylketonuria 43
202 c SPN311 Spinocerebellar Ataxia 13 42
203 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
204 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
205 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
206 ART002 Arts Syndrome 41
207 ERL001 Early Myoclonic Encephalopathy 41
208 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
209 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41
210 c HYP794 Hyperoxaluria, Primary, Type I 41
211 PRP056 Porphyria, Acute Hepatic 41
212 c SPN330 Spondylocostal Dysostosis 5 41
213 RBF001 Riboflavin Deficiency 41
214 c GM1004 Gm1-Gangliosidosis, Type I 41
215 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41
216 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
217 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 41
218 c SPN265 Spinocerebellar Ataxia 36 41
219 c SPN103 Spinocerebellar Ataxia 31 40
220 c HYP057 Hypervitaminosis D 40
221 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
222 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 40
223 c GLY098 Glycogen Storage Disease, Type Ixd 40
224 c SPN290 Spinocerebellar Ataxia 15 40
225 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
226 c SPN106 Spinocerebellar Ataxia 5 40
227 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
228 END028 Endemic Goiter 40
229 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 40
230 c MCL016 Mucolipidosis Iii Gamma 39
231 MHR001 Mohr-Tranebjaerg Syndrome 39
232 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 39
233 c GM2005 Gm2-Gangliosidosis, Ab Variant 39
234 P XNT004 Xanthinuria 39
235 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
236 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
237 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
238 CRB148 Cerebral Creatine Deficiency Syndrome 3 38
239 c MYC068 Myoclonic Epilepsy of Infancy 38
240 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38
241 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
242 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
243 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
244 P 3MT007 3-Methylglutaconic Aciduria 38
245 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
246 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38
247 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
248 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
249 BTR002 Beta-Ureidopropionase Deficiency 38
250 CHL050 Cholesterol Ester Storage Disease 38
251 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 37
252 P MYG005 Myoglobinuria 37
253 c HYP602 Hyperoxaluria, Primary, Type Ii 37
254 BTN004 Biotin Deficiency 37
255 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 37
256 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37
257 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
258 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
259 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
260 c GM1005 Gm1-Gangliosidosis, Type Ii 36
261 GLY032 Glycosylphosphatidylinositol Deficiency 36
262 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
263 c HMC021 Hemochromatosis, Type 2a 36
264 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
265 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 36
266 c SPN304 Spinocerebellar Ataxia 8 36
267 c SPN094 Spinocerebellar Ataxia 18 36
268 c GLY016 Glycogen Storage Disease Ib 36
269 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
270 P HYP111 Hyperprolinemia 36
271 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
272 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36
273 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 36
274 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 36
275 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
276 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 36
277 c SPN097 Spinocerebellar Ataxia 23 36
278 MNC019 Monocarboxylate Transporter 1 Deficiency 35
279 HYP003 Hypermethioninemia 35
280 c MCP051 Mucopolysaccharidosis, Type Ix 35
281 P GNG010 Gangliosidosis Gm2 35
282 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
283 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
284 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
285 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
286 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
287 CHR387 Chromosome Xp21 Deletion Syndrome 35
288 NNK001 Nonaka Myopathy 35
289 VTM001 Vitamin K Deficiency Hemorrhagic Disease 35
290 c MCP045 Mucopolysaccharidosis, Type Iiic 35
291 c SPN299 Spinocerebellar Ataxia 20 35
292 PRX001 Peroxisomal Disease 34
293 c CNG379 Congenital Disorder of Glycosylation, Type It 34
294 c XNT011 Xanthinuria, Type Ii 34
295 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 34
296 PLY010 Polyclonal Hypergammaglobulinemia 34
297 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
298 c GLY023 Glycogen Storage Disease Type 0 34
299 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
300 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34
301 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
302 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
303 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
304 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
305 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 33
306 KLL014 Kelley-Seegmiller Syndrome 33
307 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33
308 INC022 Inclusion-Cell Disease 33
309 GLY094 Glycine Encephalopathy with Normal Serum Glycine 33
310 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33
311 INF159 Infantile Sialic Acid Storage Disease 33
312 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
313 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
314 c MYG007 Myoglobinuria, Recurrent 32
315 ARB001 Ariboflavinosis 32
316 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32
317 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 32
318 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
319 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32
320 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
321 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
322 c MCP046 Mucopolysaccharidosis, Type Iiid 32
323 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
324 P SPS008 Spastic Ataxia 32
325 c HRD015 Hereditary Night Blindness 32
326 c MCP048 Mucopolysaccharidosis, Type Ivb 32
327 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
328 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
329 c SPN104 Spinocerebellar Ataxia 34 32
330 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 32
331 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 31
332 c SPN101 Spinocerebellar Ataxia 29 31
333 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
334 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31
335 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
336 c SPN266 Spinocerebellar Ataxia 35 31
337 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
338 c PRP091 Porphyria Cutanea Tarda, Type I 31
339 ASP024 Asparagine Synthetase Deficiency 31
340 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
341 GBT001 Gaba-Transaminase Deficiency 31
342 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
343 P SPS012 Spastic Paraplegia 3a 31
344 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
345 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 30
346 c HYP603 Hyperoxaluria, Primary, Type Iii 30
347 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
348 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
349 SWY001 Swayback 30
350 c SPN099 Spinocerebellar Ataxia 26 30
351 c SPN105 Spinocerebellar Ataxia 4 30
352 PHS022 Phosphoserine Phosphatase Deficiency 30
353 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
354 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 30
355 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30
356 c MYC083 Myoclonic Epilepsy, Familial Infantile 30
357 c HRD142 Hereditary Xanthinuria 30
358 MTC060 Mitochondrial Dna Depletion Syndrome 9 30
359 c GLY044 Glycogen Storage Disease Ixc 30
360 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
361 c SPN095 Spinocerebellar Ataxia 19 30
362 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30
363 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
364 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 30
365 FLC001 Folic Acid Deficiency Anemia 30
366 c GLY057 Glycogen Storage Disease X 30
367 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 30
368 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
369 c BNG079 Benign Adult Familial Myoclonic Epilepsy 30
370 c HMC034 Hemochromatosis, Type 5 30
371 MYP097 Myopathy with Lactic Acidosis, Hereditary 30
372 c ALB019 Albinism, Oculocutaneous, Type Iv 30
373 c GM1006 Gm1-Gangliosidosis, Type Iii 30
374 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
375 CTN011 Cutaneous Porphyria 30
376 c SPN096 Spinocerebellar Ataxia 21 30
377 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
378 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
379 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
380 c SPN283 Spinocerebellar Ataxia 37 29
381 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
382 c CNG188 Congenital Disorder of Glycosylation, Type if 29
383 c ACQ027 Acquired Cutis Laxa 29
384 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
385 P EPL198 Epilepsy, Myoclonic Juvenile 29
386 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29
387 c SPS031 Spastic Paraplegia 23 29
388 PHS014 Phosphoglycerate Kinase 1 Deficiency 29
389 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
390 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
391 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
392 c ALB015 Albinism, Oculocutaneous, Type V 28
393 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
394 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
395 MTC059 Mitochondrial Dna Depletion Syndrome 5 28
396 c GLY017 Glycogen Storage Disease Ic 28
397 c SPS036 Spastic Paraplegia 3 28
398 PHS021 Phosphoglycerate Dehydrogenase Deficiency 28
399 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 28
400 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
401 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 28
402 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 28
403 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
404 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
405 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 28
406 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28
407 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
408 ACD011 Acid Phosphatase Deficiency 28
409 MNC004 Monoclonal Paraproteinemia 28
410 c TYP035 Type 1 Diabetes Mellitus 11 28
411 c SPN284 Spinocerebellar Ataxia 38 27
412 c SPN372 Spinocerebellar Ataxia 43 27
413 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
414 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27
415 SRN001 Serine Deficiency 27
416 c HRD186 Hereditary Spastic Paraplegia 51 27
417 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
418 c HYP248 Hyperprolinemia, Type I 27
419 CHL045 Choline Deficiency Disease 27
420 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
421 MLD011 Mild Hyperphenylalaninemia 27
422 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
423 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
424 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
425 RBS005 Ribose 5-Phosphate Isomerase Deficiency 27
426 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
427 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
428 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
429 c TYP037 Type 1 Diabetes Mellitus 13 27
430 c INF122 Infantile Krabbe Disease 27
431 c GLY097 Glycogen Storage Disease Ixb 27
432 c GLY043 Glycogen Storage Disease Xii 27
433 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
434 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 26
435 c TYP031 Type 1 Diabetes Mellitus 5 26
436 CRT011 Carotenemia 26
437 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 26
438 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
439 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
440 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
441 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 26
442 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 26
443 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
444 c ALB017 Albinism, Oculocutaneous, Type Vi 26
445 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
446 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
447 MTC088 Mitochondrial Dna Depletion Syndrome 13 26
448 c TYP033 Type 1 Diabetes Mellitus 7 26
449 CMB017 Combined Oxidative Phosphorylation Deficiency 6 26
450 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26
451 LGH012 Leigh Syndrome with Leukodystrophy 26
452 c SPN247 Spinocerebellar Ataxia Type 19/22 26
453 c GLY009 Glycogen Storage Disease Xv 26
454 c TYP028 Type 1 Diabetes Mellitus 2 26
455 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
456 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
457 CMB020 Combined Saposin Deficiency 26
458 c SPN098 Spinocerebellar Ataxia 25 26
459 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 26
460 LCT013 Lactase Deficiency, Congenital 26
461 c SPS092 Spastic Paraplegia 11 26
462 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
463 c SPS021 Spastic Paraplegia 10 26
464 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
465 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
466 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
467 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
468 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
469 c SPN383 Spinocerebellar Ataxia 42 25
470 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
471 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
472 DMT001 Dimethylglycine Dehydrogenase Deficiency 25
473 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
474 c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 25
475 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
476 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 25
477 c SPS072 Spastic Ataxia 1, Autosomal Dominant 25
478 c SPS039 Spastic Paraplegia 5a 25
479 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
480 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
481 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
482 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
483 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 25
484 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
485 c TYP032 Type 1 Diabetes Mellitus 6 25
486 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
487 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
488 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 25
489 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 25
490 MTC062 Mitochondrial Dna Depletion Syndrome 2 25
491 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
492 c SPN286 Spinocerebellar Ataxia 40 24
493 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
494 CMB045 Combined Oxidative Phosphorylation Deficiency 19 24
495 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
496 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
497 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
498 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24
499 c EPL210 Epilepsy, Progressive Myoclonic, 6 24
500 c EPL134 Epilepsy, Progressive Myoclonic 7 24
501 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
502 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 24
503 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24
504 LKT001 Leukotriene C4 Synthase Deficiency 24
505 c SPS136 Spastic Ataxia 3, Autosomal Recessive 24
506 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
507 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
508 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24
509 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
510 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
511 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 24
512 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
513 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
514 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
515 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
516 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24
517 c LCT011 Lactose Intolerance, Adult Type 24
518 c TYP034 Type 1 Diabetes Mellitus 8 24
519 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 23
520 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
521 c SPS025 Spastic Paraplegia 15 23
522 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 23
523 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
524 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23
525 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
526 SDH011 Sedoheptulokinase Deficiency 23
527 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
528 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
529 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 23
530 c MTC116 Mitochondrial Myopathy, Infantile, Transient 23
531 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
532 c HMC019 Hemochromatosis, Type 2b 23
533 ISL116 Isolated Complex Iii Deficiency 23
534 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
535 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
536 c TYP036 Type 1 Diabetes Mellitus 12 23
537 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23
538 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23
539 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 23
540 c ALB016 Albinism, Oculocutaneous, Type Vii 23
541 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 22
542 c GLY059 Glycogen Storage Disease Xiii 22
543 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
544 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
545 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22
546 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22
547 P JVN024 Juvenile Hereditary Hemochromatosis 22
548 MTC078 Mitochondrial Dna Depletion Syndrome 11 22
549 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 22
550 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
551 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
552 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 22
553 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22
554 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
555 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
556 c FML324 Familial Porphyria Cutanea Tarda 22
557 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
558 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
559 GLT028 Glutaric Aciduria Iii 22
560 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
561 c SPN323 Spinocerebellar Ataxia 41 22
562 STT003 Steatitis 22
563 CMB043 Combined Oxidative Phosphorylation Deficiency 9 22
564 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 22
565 c SPN259 Spinocerebellar Ataxia 32 21
566 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 21
567 c SPS091 Spastic Paraplegia 4 21
568 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
569 c SPS142 Spastic Ataxia 2, Autosomal Recessive 21
570 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
571 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
572 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 21
573 CMB064 Combined Oxidative Phosphorylation Deficiency 24 21
574 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
575 MRC009 Mercaptolactate-Cysteine Disulfiduria 21
576 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
577 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
578 c TYP027 Type 1 Diabetes Mellitus 10 21
579 c SPN102 Spinocerebellar Ataxia 30 21
580 MTH040 Methylmalonyl-Coa Epimerase Deficiency 21
581 c TYP038 Type 1 Diabetes Mellitus 15 21
582 CMB044 Combined Oxidative Phosphorylation Deficiency 14 21
583 c SPS041 Spastic Paraplegia 6 21
584 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
585 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 21
586 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
587 CMB013 Combined Oxidative Phosphorylation Deficiency 2 21
588 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
589 c EPL154 Epilepsy, Progressive Myoclonic, 9 21
590 CMB016 Combined Oxidative Phosphorylation Deficiency 5 21
591 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21
592 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
593 PYR025 Pyruvate Dehydrogenase E2 Deficiency 21
594 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
595 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
596 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
597 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21
598 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
599 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 21
600 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 21
601 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
602 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
603 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
604 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
605 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
606 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 20
607 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
608 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
609 CMB065 Combined Oxidative Phosphorylation Deficiency 26 20
610 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
611 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
612 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 20
613 CMB049 Combined Oxidative Phosphorylation Deficiency 17 20
614 c TYP039 Type 1 Diabetes Mellitus 17 20
615 c SPS020 Spastic Paraplegia 1 20
616 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
617 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
618 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 20
619 c SPN418 Spinocerebellar Ataxia 44 20
620 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 20
621 LPY002 Lipoyltransferase 1 Deficiency 20
622 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
623 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 20
624 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
625 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
626 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
627 c SPN107 Spinocerebellar Ataxia 9 20
628 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
629 NLX003 Neu-Laxova Syndrome 2 20
630 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
631 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 20
632 CRB137 Cerebral Creatine Deficiency Syndrome 20
633 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
634 c TYP040 Type 1 Diabetes Mellitus 18 19
635 c SPS013 Spastic Paraplegia 8 19
636 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
637 CMB048 Combined Oxidative Phosphorylation Deficiency 15 19
638 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 19
639 c INF126 Infantile Glycine Encephalopathy 19
640 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
641 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 19
642 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
643 c SVR048 Severe Canavan Disease 19
644 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
645 CMB071 Combined Oxidative Phosphorylation Deficiency 27 19
646 HYP690 Hyper-Beta-Alaninemia 19
647 PLY114 Polyglucosan Body Myopathy 2 19
648 c GLY006 Glycogen Storage Disease Viii 19
649 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
650 c PRM150 Primary Localized Amyloidosis 19
651 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
652 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 19
653 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 19
654 c MTC074 Metachromatic Leukodystrophy, Adult Form 19
655 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 19
656 NNT038 Neonatal Glycine Encephalopathy 19
657 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
658 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
659 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
660 c SPS042 Spastic Paraplegia 9 19
661 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
662 c EPL155 Epilepsy, Progressive Myoclonic, 8 19
663 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
664 CMB041 Combined Oxidative Phosphorylation Deficiency 13 19
665 CMB077 Combined Oxidative Phosphorylation Deficiency 30 19
666 ISL082 Isolated Atp Synthase Deficiency 19
667 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 19
668 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
669 CMB052 Combined Oxidative Phosphorylation Deficiency 20 19
670 c TYP030 Type 1 Diabetes Mellitus 4 19
671 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
672 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
673 CMB015 Combined Oxidative Phosphorylation Deficiency 4 18
674 MTC079 Mitochondrial Pyruvate Carrier Deficiency 18
675 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 18
676 c SPS037 Spastic Paraplegia 31 18
677 c SPS034 Spastic Paraplegia 26 18
678 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
679 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 18
680 c SPS023 Spastic Paraplegia 13 18
681 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
682 RNN006 Reunion Island Larsen Syndrome 18
683 c TYP029 Type 1 Diabetes Mellitus 3 18
684 PRM123 Paramyloidosis 18
685 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 18
686 c SPS028 Spastic Paraplegia 18 18
687 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
688 c GLY093 Glycogen Storage Disease Ixa 17
689 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
690 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 17
691 c MYC086 Myoclonic Epilepsy, Juvenile 4 17
692 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
693 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 17
694 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 17
695 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
696 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
697 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 17
698 c SPS027 Spastic Paraplegia 17 17
699 c SPN336 Spinocerebellar Ataxia Type 16 17
700 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 17
701 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 17
702 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 17
703 CMB051 Combined Oxidative Phosphorylation Deficiency 21 16
704 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
705 c SPS080 Spastic Paraplegia 51 16
706 c SPN420 Spinocerebellar Ataxia 46 16
707 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 16
708 c SPS022 Spastic Paraplegia 12 16
709 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
710 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 16
711 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16
712 c SPS161 Spastic Paraplegia 32 15
713 c SPS035 Spastic Paraplegia 29 15
714 c SPS033 Spastic Paraplegia 25 15
715 c SPS032 Spastic Paraplegia 24 15
716 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 15
717 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
718 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 15
719 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 15
720 MLD009 Mild Canavan Disease 15
721 c HRD188 Hereditary Spastic Paraplegia 72 15
722 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
723 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
724 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
725 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 15
726 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 15
727 c SPS029 Spastic Paraplegia 19 15
728 HYD055 Hydroxylysinuria 15
729 c SPN419 Spinocerebellar Ataxia 45 15
730 c SPS026 Spastic Paraplegia 16 15
731 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 14
732 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 14
733 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 14
734 c MYG006 Myoglobinuria, Autosomal Dominant 14
735 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
736 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
737 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 14
738 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
739 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
740 c SPS038 Spastic Paraplegia 39 14
741 GNR029 Generalized Galactose Epimerase Deficiency 14
742 MTC115 Mitochondrial Myopathy, Lethal, Infantile 14
743 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
744 GNT042 Genetic Recurrent Myoglobinuria 14
745 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 14
746 c TYS005 Tay-Sachs Disease, B1 Variant 14
747 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 14
748 c AHM002 Ah Amyloidosis 13
749 c SPN121 Spondylocostal Dysostosis 1 13
750 c PRG133 Progressive Myoclonic Epilepsy Type 5 13
751 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
752 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
753 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 13
754 c SPS024 Spastic Paraplegia 14 13
755 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 13
756 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
757 HYP822 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 13
758 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
759 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 12
760 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
761 c GLY001 Glycogen Storage Disease Ix 12
762 c SPS040 Spastic Paraplegia 5b 11
763 c ACQ002 Acquired Night Blindness 11
764 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 11
765 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
766 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
767 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
768 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
769 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
770 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
771 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
772 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
773 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
774 FLN005 Folinic Acid-Responsive Seizures 11
775 PYR009 Pyridoxine Deficiency Anemia 11
776 ERY041 Erythrocyte Galactose Epimerase Deficiency 11
777 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 10
778 c SPN122 Spondylocostal Dysostosis 2 10
779 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 10
780 c SPN124 Spondylocostal Dysostosis 4 10
781 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
782 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
783 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
784 DBT003 Diabetic Peripheral Angiopathy 10
785 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 9
786 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 9
787 c SPS214 Spastic Ataxia 4 9
788 c LCT020 Lactic Acidosis, Chronic Adult Form 9
789 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
790 c ADL071 Adult Krabbe Disease 9
791 c EPL009 Epilepsy Progressive Myoclonic Type 3 9
792 c SPN123 Spondylocostal Dysostosis 3 9
793 c ACT189 Acute Neonatal Citrullinemia Type I 9
794 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
795 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
796 c SPS163 Spastic Ataxia 3 8
797 c SPS162 Spastic Ataxia 1 8
798 MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 8
799 P TTL001 Total Internal Ophthalmoplegia 8
800 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 8
801 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 8
802 c HRD048 Hereditary Hyperuricemia 8
803 c ADL083 Adult-Onset Citrullinemia Type I 8
804 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
805 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
806 c SPS171 Spastic Ataxia 5 8
807 c SPS170 Spastic Ataxia 2 8
808 P JVN036 Juvenile Sialidosis Type 2 8
809 c CNG348 Congenital Sialidosis Type 2 8
810 TRN049 Transient Tyrosinemia of the Newborn 7
811 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
812 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
813 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
814 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
815 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
816 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
817 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 7
818 c ALP055 Alpha-Mannosidosis, Infantile Form 7
819 c ALP056 Alpha-Mannosidosis, Adult Form 7
820 c SPS172 Spastic Ataxia 7 7
821 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 7
822 PRM138 Pure Mitochondrial Myopathy 7
823 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
824 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
825 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
826 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
827 c MTH080 Methylmalonic Acidemia Cb1b Type 6
828 XYL001 Xylt1-Cdg 5
829 P MTH065 Methylmalonic Acidemia Cb1a Type 5
830 c LCT010 Lactic Acidosis Congenital Infantile 5
831 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 5
832 FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
833 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
834 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 4
835 CRB012 Cerebral Folate Receptor Alpha Deficiency 4
836 c MYG002 Myoglobinuria Dominant Form 3
837 MTR052 Maternally-Inherited Mitochondrial Dystonia 3
838 ADN058 Adenylosuccinase Lyase Deficiency 2
839 MTC086 Mitochondrial Dna Depletion Syndrome 12 2
840 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51
841 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 45
842 c 3MT015 3-Methylglutaconic Aciduria, Type I 44
843 c 3MT014 3-Methylglutaconic Aciduria, Type V 40
844 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 33
845 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
846 RCK004 Rickets 63
847 CMR002 Coumarin Resistance 44
848 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 41
849 P GLT035 Glutaric Acidemia I 40
850 GRC001 Gracile Syndrome 31
851 MCR257 Microcephaly, Amish Type 28
852 OBS050 Obesity Due to Congenital Leptin Deficiency 19
853 c GLT029 Glutaric Acidemia Type Iii 13
854 AYZ001 Ayazi Syndrome 11
855 KWS001 Kwashiorkor 43
856 IRN004 Iron-Refractory Iron Deficiency Anemia 42
857 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56
858 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
859 ADN024 Adenine Phosphoribosyltransferase Deficiency 49
860 3HY001 3-Hydroxyisobutyric Aciduria 25
861 TTR005 Tetrahydrobiopterin Deficiency 44
862 P CRB059 Cerebellar Degeneration 40
863 HYP364 Hyperostosis Frontalis Interna 29
864 c SBC039 Subacute Cerebellar Degeneration 22
865 c PRM015 Primary Cerebellar Degeneration 20
866 DPL003 Diploid-Triploid Mosaicism 15
867 THP001 Thiopurine S Methyltranferase Deficiency 14
868 EFV001 Efavirenz, Poor Metabolism of 13
869 INT088 Intrinsic Factor Deficiency 35
870 IRN008 Iron Overload in Africa 32
871 CNG016 Congenital Intrinsic Factor Deficiency 27
872 CHR506 Choroideremia, Deafness, and Mental Retardation 24
873 CLR029 Clark-Baraitser Syndrome 24
874 c BMN004 Biemond Syndrome Ii 21
875 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 20
876 AMN012 Aminoacidopathies 15
877 P BMN001 Biemond Syndrome 14
878 CMR005 Camera-Marugo-Cohen Syndrome 12
879 TGL001 Tiglic Acidemia 11
880 MN1002 Man1b1-Cdg 9
881 WNS001 Weinstein Kliman Scully Syndrome 5
882 c BMN003 Biemond Syndrome Type 1 3
883 P PRK057 Parkinson Disease, Late-Onset 78
884 P MTC003 Metachromatic Leukodystrophy 72
885 FBR012 Fabry Disease 72
886 P TYS001 Tay-Sachs Disease 71
887 P KRB001 Krabbe Disease 70
888 P DMN001 Diamond-Blackfan Anemia 70
889 P DBT085 Diabetes Mellitus, Insulin-Dependent 69
890 SCH036 Scheie Syndrome 68
891 P NMN002 Niemann-Pick Disease 68
892 P CHR071 Charcot-Marie-Tooth Disease 67
893 P MCL013 Mucolipidosis Iv 67
894 CHD001 Chediak-Higashi Syndrome 67
895 SND001 Sandhoff Disease 65
896 c MCP050 Mucopolysaccharidosis, Type Ii 64
897 GLC006 Galactosemia 64
898 c MCP049 Mucopolysaccharidosis, Type Vii 64
899 CYS013 Cystinuria 64
900 CRB011 Cerebrotendinous Xanthomatosis 64
901 c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 63
902 PRP001 Propionic Acidemia 63
903 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
904 P NRN021 Neuronal Ceroid Lipofuscinosis 62
905 P GCH001 Gaucher's Disease 62
906 P INT001 Intrahepatic Cholestasis 62
907 FTT001 Fatty Liver Disease 62
908 c MCP024 Mucopolysaccharidosis Type Vi 61
909 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
910 P CTR002 Cataract 60
911 PRP083 Porphyria, Acute Intermittent 60
912 PTR032 Peters-Plus Syndrome 60
913 c MCP004 Mucopolysaccharidosis Iv 60
914 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 59
915 P HYP724 Hyperlipoproteinemia, Type Iii 59
916 c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 59
917 c NMN013 Niemann-Pick Disease, Type a 59
918 P FCS002 Fucosidosis 59
919 HLC001 Holocarboxylase Synthetase Deficiency 59
920 CTR172 Citrullinemia, Classic 58
921 PRT118 Protoporphyria, Erythropoietic 58
922 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58
923 c MCL062 Mucolipidosis Ii Alpha/beta 58
924 c NMN015 Niemann-Pick Disease, Type C1 57
925 c PRX045 Peroxisome Biogenesis Disorder 1b 57
926 MVL001 Mevalonic Aciduria 57
927 P HYP614 Hyperlipidemia, Familial Combined 57
928 DBF001 D-Bifunctional Protein Deficiency 57
929 ASP002 Aspartylglucosaminuria 57
930 ARG002 Argininosuccinic Aciduria 57
931 c PSD108 Pseudohypoparathyroidism, Type Ia 57
932 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 57
933 MTC007 Mitochondrial Complex I Deficiency 56
934 P ZLL001 Zellweger Syndrome 56
935 c MCP001 Mucopolysaccharidosis Iii 56
936 DBN001 Dubin-Johnson Syndrome 56
937 BTN003 Biotinidase Deficiency 56
938 PRP082 Porphyria, Congenital Erythropoietic 56
939 c FRC011 Fructose Intolerance, Hereditary 56
940 ALK013 Alkaptonuria 56
941 MTH078 Methylmalonic Aciduria, Cblb Type 56
942 P CNG411 Congenital Disorder of Glycosylation, Type in 55
943 P LMB006 Limb-Girdle Muscular Dystrophy 55
944 c ANM036 Anemia, Sideroblastic, 1 55
945 HRL003 Hurler Syndrome 55
946 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55
947 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 54
948 PYR041 Pyruvate Kinase Deficiency of Red Cells 54
949 HMZ003 Homozygous Familial Hypercholesterolemia 54
950 P HYP818 Hypobetalipoproteinemia, Familial, 1 54
951 LPD016 Lipoid Proteinosis of Urbach and Wiethe 54
952 PRP032 Porphyria Variegata 54
953 APP015 Apparent Mineralocorticoid Excess 54
954 MLT135 Multiple Sulfatase Deficiency 54
955 LYS003 Lysinuric Protein Intolerance 53
956 CLC001 Calciphylaxis 53
957 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53
958 GLC012 Galactosialidosis 53
959 c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 53
960 c GNG001 Gangliosidosis Gm1 52
961 c PSD066 Pseudohypoparathyroidism, Type Ib 52
962 P GLY010 Glycine Encephalopathy 52
963 VTM028 Vitamin E, Familial Isolated Deficiency of 52
964 HYP732 Hyperalphalipoproteinemia 1 52
965 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 52
966 WRN002 Wernicke-Korsakoff Syndrome 52
967 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52
968 P MNN019 Mannosidosis, Beta a, Lysosomal 52
969 TRS021 Triosephosphate Isomerase Deficiency 51
970 ARG007 Argininemia 51
971 c HYP739 Hyperlipoproteinemia, Type Iv 51
972 PYC001 Pycnodysostosis 51
973 ORT008 Orotic Aciduria 50
974 PRN011 Pernicious Anemia 50
975 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50
976 c MCL046 Mucolipidosis Iii Alpha/beta 50
977 P HMC002 Homocystinuria 50
978 c DWL002 Dowling-Degos Disease 1 50
979 P PSD015 Pseudohypoparathyroidism 50
980 HMS001 Hemosiderosis 50
981 HMC014 Homocysteinemia 49
982 c CRG004 Crigler-Najjar Syndrome, Type Ii 49
983 ISV001 Isovaleric Acidemia 49
984 OCC006 Occipital Horn Syndrome 49
985 HYP088 Hyper-Igd Syndrome 49
986 NLX004 Neu-Laxova Syndrome 1 49
987 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
988 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
989 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
990 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 49
991 HYP081 Hypolipoproteinemia 49
992 MTC020 Mitochondrial Complex Ii Deficiency 48
993 HRT031 Hartnup Disorder 48
994 SPH010 Sphingolipidosis 48
995 P FML035 Familial Hyperlipidemia 48
996 HPT025 Hepatic Lipase Deficiency 48
997 c DMN023 Diamond-Blackfan Anemia 1 48
998 P KRN004 Kernicterus 48
999 GLC009 Glucosephosphate Dehydrogenase Deficiency 48
1000 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
1001 GLY014 Glycerol Kinase Deficiency 47
1002 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47
1003 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47
1004 c HRM005 Hermansky-Pudlak Syndrome 1 47
1005 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1006 c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 47
1007 GLT007 Glutathione Synthetase Deficiency 47
1008 NRM019 Neuraminidase Deficiency 47
1009 c ALB021 Albinism, Oculocutaneous, Type Ii 47
1010 c HRM006 Hermansky-Pudlak Syndrome 3 47
1011 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47
1012 FRB001 Farber Lipogranulomatosis 46
1013 P D2H002 D-2-Hydroxyglutaric Aciduria 1 46
1014 GLC011 Galactose Epimerase Deficiency 46
1015 ENC055 Encephalopathy, Ethylmalonic 45
1016 ALB002 Albinism 45
1017 FSH001 Fish-Eye Disease 45
1018 MLT018 Multiple Carboxylase Deficiency 45
1019 c TYR013 Tyrosinemia, Type Ii 45
1020 CRB150 Cerebral Creatine Deficiency Syndrome 2 45
1021 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 44
1022 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
1023 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 44
1024 SLR001 Sialuria 44
1025 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44
1026 P PLL002 Pellagra 44
1027 c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 44
1028 c HYP768 Hyperlipoproteinemia, Type I 44
1029 FRC001 Fructose-1,6-Bisphosphatase Deficiency 44
1030 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44
1031 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1032 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 43
1033 P DWL001 Dowling-Degos Disease 43
1034 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 43
1035 SBL008 Sea-Blue Histiocyte Disease 43
1036 P SDR003 Sideroblastic Anemia 43
1037 BRN045 Brunner Syndrome 43
1038 c HMC009 Hemochromatosis Type 2 43
1039 c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 43
1040 c L2H001 L-2-Hydroxyglutaric Aciduria 43
1041 MTH074 Methionine Adenosyltransferase I/iii Deficiency 43
1042 P TRM004 Trimethylaminuria 43
1043 P SLL003 Salla Disease 43
1044 HYP781 Hypoascorbemia 42
1045 c HMC010 Hemochromatosis, Type 3 42
1046 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 42
1047 c NMN016 Niemann-Pick Disease, Type B 42
1048 GLC004 Galactokinase Deficiency 42
1049 P CNG003 Congenital Dyserythropoietic Anemia 42
1050 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 42
1051 c PRX059 Peroxisome Biogenesis Disorder 1a 41
1052 c HRM008 Hermansky-Pudlak Syndrome 5 41
1053 c CTR130 Cataract 9, Multiple Types 41
1054 ALP077 Alpha-Methylacetoacetic Aciduria 41
1055 PRL019 Prolidase Deficiency 41
1056 IMN001 Iminoglycinuria 41
1057 c ALB009 Albinism, Oculocutaneous, Type Ia 41
1058 P PNT019 Pontocerebellar Hypoplasia 41
1059 HYP236 Hyperbilirubinemia, Rotor Type 41
1060 c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 41
1061 c PNT034 Pontocerebellar Hypoplasia, Type 2e 41
1062 c HMC035 Hemochromatosis, Type 4 40
1063 BRB001 Beriberi 40
1064 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
1065 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40
1066 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 40
1067 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 40
1068 GLC022 Glucose/galactose Malabsorption 40
1069 c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 40
1070 c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 40
1071 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
1072 HRL004 Hurler-Scheie Syndrome 40
1073 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1074 c TYR011 Tyrosinemia, Type Iii 39
1075 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 39
1076 TRN021 Transaldolase Deficiency 39
1077 DHY011 Dihydropyrimidinase Deficiency 39
1078 c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39
1079 c PSD117 Pseudohypoparathyroidism, Type Ic 39
1080 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39
1081 SGW002 Segawa Syndrome, Autosomal Recessive 39
1082 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1083 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
1084 c CTR118 Cataract 14, Multiple Types 39
1085 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 39
1086 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 39
1087 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 38
1088 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 38
1089 c SPN308 Spinocerebellar Ataxia 28 38
1090 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
1091 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38
1092 c CTR115 Cataract 16, Multiple Types 38
1093 PYR037 Pyruvate Carboxylase Deficiency 38
1094 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1095 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
1096 c CTR122 Cataract 5, Multiple Types 38
1097 PSD029 Pseudocholinesterase Deficiency 38
1098 HMC038 Hemochromatosis, Neonatal 38
1099 c HYP396 Hypercholesterolemia, Autosomal Recessive 37
1100 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
1101 ADN022 Adenylosuccinase Deficiency 37
1102 PYR016 Pyridoxine Deficiency 37
1103 c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 37
1104 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 37
1105 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
1106 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37
1107 DGL002 D-Glyceric Aciduria 37
1108 c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 37
1109 EPL131 Epilepsy, Pyridoxine-Dependent 37
1110 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
1111 c CTR129 Cataract 31, Multiple Types 36
1112 GLY015 Glycine N-Methyltransferase Deficiency 36
1113 c CTR170 Cataract 30, Multiple Types 36
1114 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36
1115 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 36
1116 APL017 Apolipoprotein C-Ii Deficiency 36
1117 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 36
1118 c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36
1119 c ERL047 Early-Onset Parkinson Disease 36
1120 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 36
1121 INF129 Infantile Cerebellar-Retinal Degeneration 36
1122 FLT009 Folate Malabsorption, Hereditary 36
1123 KNZ001 Kanzaki Disease 36
1124 c MSC161 Muscular Dystrophy, Limb-Girdle, Type 1c 36
1125 NCT003 N-Acetylglutamate Synthase Deficiency 36
1126 DSM002 Desmosterolosis 35
1127 c CTR098 Cataract 1, Multiple Types 35
1128 c PNT049 Pontocerebellar Hypoplasia, Type 2d 35
1129 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 35
1130 SLF014 Sulfite Oxidase Deficiency, Isolated 35
1131 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1132 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
1133 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35
1134 FMR004 Fumarase Deficiency 34
1135 CNZ001 Coenzyme Q10 Deficiency Disease 34
1136 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
1137 LTH002 Lathosterolosis 34
1138 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 34
1139 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 34
1140 c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 34
1141 c NMN014 Niemann-Pick Disease, Type C2 34
1142 P CTR177 Citrullinemia, Type Ii, Adult-Onset 34
1143 c PSD104 Pseudohypoparathyroidism, Type Ii 34
1144 c CTR141 Cataract 21, Multiple Types 34
1145 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 33
1146 c HRM009 Hermansky-Pudlak Syndrome 6 33
1147 SCR037 Sucrase-Isomaltase Deficiency, Congenital 33
1148 ACT209 Acatalasemia 33
1149 c PRK025 Parkinson Disease 10 33
1150 c CTR125 Cataract 7 33
1151 KSH001 Keshan Disease 33
1152 c CTR174 Cataract 40 33
1153 P 2HY001 2-Hydroxyglutaric Aciduria 33
1154 HMC001 Homocarnosinosis 33
1155 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33
1156 SRC015 Sarcosinemia 33
1157 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 33
1158 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
1159 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
1160 c ALB010 Albinism, Oculocutaneous, Type Ib 32
1161 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 32
1162 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 32
1163 c CTR102 Cataract 2, Multiple Types 32
1164 c HRM012 Hermansky-Pudlak Syndrome 9 32
1165 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 32
1166 PPC001 Pepck 1 Deficiency 32
1167 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1168 c CTR096 Cataract 6, Multiple Types 32
1169 SCH030 Schneckenbecken Dysplasia 32
1170 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
1171 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
1172 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32
1173 MLN011 Malonyl-Coa Decarboxylase Deficiency 32
1174 c CTR119 Cataract 32, Multiple Types 32
1175 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 31
1176 c CTR095 Cataract 8, Multiple Types 31
1177 FRS004 Free Sialic Acid Storage Disorders 31
1178 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31
1179 c CTR158 Cataract 37 31
1180 c PNT045 Pontocerebellar Hypoplasia, Type 1a 31
1181 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 31
1182 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
1183 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
1184 c CTR103 Cataract 4, Multiple Types 31
1185 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1186 c CTR145 Cataract 44 31
1187 c ZLL011 Zellweger Spectrum Disorder 31
1188 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
1189 GLY031 Glycoproteinosis 31
1190 c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 31
1191 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1192 PHS023 Phosphoserine Aminotransferase Deficiency 31
1193 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 31
1194 c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 31
1195 CYS019 Cystathioninuria 30
1196 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 30
1197 P SCH017 Schindler Disease 30
1198 MTC063 Mitochondrial Dna Depletion Syndrome 3 30
1199 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
1200 c HRM020 Hermansky-Pudlak Syndrome 10 30
1201 c PRK093 Parkinson Disease 8, Autosomal Dominant 30
1202 c CTR132 Cataract 3, Multiple Types 29
1203 c PNT043 Pontocerebellar Hypoplasia, Type 4 29
1204 PLY158 Polyglucosan Body Neuropathy, Adult Form 29
1205 c HRM010 Hermansky-Pudlak Syndrome 7 29
1206 c PRK071 Parkinson Disease 14, Autosomal Recessive 29
1207 c PRX060 Peroxisome Biogenesis Disorder 5a 29
1208 c ALB020 Albinism, Oculocutaneous, Type Iii 29
1209 c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 29
1210 CMB012 Combined Oxidative Phosphorylation Deficiency 1 29
1211 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
1212 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1213 P XLN161 X-Linked Chondrodysplasia Punctata 29
1214 c GCH013 Gaucher Disease, Type Iiic 29
1215 HWK001 Hawkinsinuria 29
1216 P MSC002 Muscular Dystrophy-Dystroglycanopathy 28
1217 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 28
1218 LGH003 Leigh Syndrome, French Canadian Type 28
1219 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
1220 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 28
1221 c CTR121 Cataract 25 28
1222 24D001 2,4-Dienoyl-Coa Reductase Deficiency 28
1223 c CTR175 Cataract 24 28
1224 c PNT044 Pontocerebellar Hypoplasia, Type 2a 28
1225 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1226 c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 28
1227 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
1228 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1229 c HYP716 Hypermanganesemia with Dystonia 1 28
1230 c HRM007 Hermansky-Pudlak Syndrome 4 28
1231 c HRM011 Hermansky-Pudlak Syndrome 8 28
1232 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 28
1233 c CTR124 Cataract 10, Multiple Types 28
1234 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1235 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
1236 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
1237 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
1238 GLT005 Glutamate Formiminotransferase Deficiency 27
1239 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
1240 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 27
1241 c PNT032 Pontocerebellar Hypoplasia, Type 9 27
1242 c CTR113 Cataract 11, Multiple Types 27
1243 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 27
1244 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 27
1245 CNG002 Congenital Bile Acid Synthesis Defect 27
1246 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 26
1247 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
1248 MTH077 Methylmalonic Aciduria, Cbla Type 26
1249 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
1250 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1251 c PRX054 Peroxisome Biogenesis Disorder 12a 26
1252 PNC048 Pancreatic Lipase Deficiency 26
1253 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
1254 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
1255 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
1256 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26
1257 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26
1258 c HRD173 Hereditary Late-Onset Parkinson Disease 26
1259 c LMB047 Limb-Girdle Muscular Dystrophy, Type 1g 26
1260 c PRX053 Peroxisome Biogenesis Disorder 14b 26
1261 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
1262 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
1263 c PRX055 Peroxisome Biogenesis Disorder 11a 25
1264 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1265 c PRX065 Peroxisome Biogenesis Disorder 3a 25
1266 MND023 Mend Syndrome 25
1267 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1268 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1269 c PRK065 Parkinson Disease 20, Early-Onset 25
1270 5XP001 5-Oxoprolinase Deficiency 25
1271 c DMN021 Diamond-Blackfan Anemia 6 25
1272 c CTR169 Cataract 29 25
1273 FRC005 Fructosuria, Essential 25
1274 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 24
1275 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1276 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24
1277 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
1278 c PRX091 Peroxisome Biogenesis Disorder 8a 24
1279 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
1280 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 24
1281 GLY061 Glycogen Storage Disease 0, Muscle 24
1282 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 24
1283 P PNT006 Pentosuria 24
1284 HYD030 Hydroxykynureninuria 24
1285 c PRX057 Peroxisome Biogenesis Disorder 4a 24
1286 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 24
1287 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
1288 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
1289 c PRX048 Peroxisome Biogenesis Disorder 10a 24
1290 c PRX046 Peroxisome Biogenesis Disorder 7a 24
1291 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24
1292 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
1293 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
1294 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
1295 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1296 LCT017 Lactate Dehydrogenase B Deficiency 23
1297 c PRK052 Parkinson Disease 17 23
1298 BLC011 Bile Acid Synthesis Defect, Congenital, 3 23
1299 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 23
1300 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
1301 SCC002 Saccharopinuria 23
1302 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
1303 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 23
1304 c INT262 Intermediate Maple Syrup Urine Disease 23
1305 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
1306 c PRX052 Peroxisome Biogenesis Disorder 13a 23
1307 c DMN017 Diamond-Blackfan Anemia 10 23
1308 CRN042 Carnosinemia 23
1309 c SPS212 Spastic Ataxia 5, Autosomal Recessive 23
1310 c CTR166 Cataract 33, Multiple Types 23
1311 c CTR131 Cataract 17, Multiple Types 23
1312 c DMN019 Diamond-Blackfan Anemia 4 23
1313 c DMN024 Diamond-Blackfan Anemia 7 23
1314 c PRK008 Parkinson Disease Type 9 22
1315 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
1316 c HYP597 Hyperprolinemia, Type Ii 22
1317 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
1318 c CTR181 Cataract 18 22
1319 c PRX051 Peroxisome Biogenesis Disorder 6a 22
1320 c ATS133 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 22
1321 c PRX050 Peroxisome Biogenesis Disorder 9b 22
1322 CMB014 Combined Oxidative Phosphorylation Deficiency 3 22
1323 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 22
1324 c PNT050 Pontocerebellar Hypoplasia, Type 11 22
1325 CMB011 Combined Malonic and Methylmalonic Aciduria 22
1326 c DMN040 Diamond-Blackfan Anemia 16 22
1327 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1328 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 22
1329 c CTR180 Cataract 22, Multiple Types 22
1330 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
1331 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
1332 c CTR162 Cataract 47 22
1333 c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 22
1334 c PRK094 Parkinson Disease 11, Autosomal Dominant 22
1335 HYP279 Hypercholanemia, Familial 22
1336 MLD010 Mild Phenylketonuria 22
1337 c PRK070 Parkinson Disease 21 22
1338 VRR003 Verruciform Xanthoma of Skin 22
1339 MTC055 Mitochondrial Dna Depletion Syndrome 4b 22
1340 URC006 Urocanase Deficiency 22
1341 c DMN006 Diamond-Blackfan Anemia 3 22
1342 CMB008 Combined Oxidative Phosphorylation Deficiency 22
1343 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
1344 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1345 c PRX058 Peroxisome Biogenesis Disorder 4b 21
1346 c HYP713 Hypermanganesemia with Dystonia 2 21
1347 GLT014 Glutathionuria 21
1348 CMB019 Combined Oxidative Phosphorylation Deficiency 8 21
1349 CMB025 Combined Oxidative Phosphorylation Deficiency 10 21
1350 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 21
1351 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 21
1352 c DMN029 Diamond-Blackfan Anemia 11 21
1353 c PRX047 Peroxisome Biogenesis Disorder 5b 21
1354 c ATS210 Autosomal Recessive Sideroblastic Anemia 21
1355 c PRK096 Parkinson Disease 13, Autosomal Dominant 21
1356 c PNT048 Pontocerebellar Hypoplasia, Type 2c 21
1357 c PRX062 Peroxisome Biogenesis Disorder 8b 21
1358 c CTR184 Cataract 39, Multiple Types 21
1359 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 21
1360 c CTR165 Cataract 19, Multiple Types 21
1361 c CTR159 Cataract 35 21
1362 c DMN018 Diamond-Blackfan Anemia 5 21
1363 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 21
1364 TRH001 Trehalase Deficiency 21
1365 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1366 c DMN020 Diamond-Blackfan Anemia 8 20
1367 FTL003 Fatal Infantile Encephalocardiomyopathy 20
1368 BSP004 Bisphosphoglycerate Mutase Deficiency 20
1369 c CTR182 Cataract 23, Multiple Types 20
1370 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
1371 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20
1372 c CTR116 Cataract 15, Multiple Types 20
1373 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
1374 MTC037 Mitochondrial Phosphate Carrier Deficiency 20
1375 c CTR183 Cataract 38 20
1376 TRN067 Transcobalamin I Deficiency 20
1377 CMB072 Combined Oxidative Phosphorylation Deficiency 28 20
1378 c CTR025 Cataract, Total Congenital 20
1379 c CTR105 Cataract 12, Multiple Types 20
1380 c CTR136 Cataract 41 20
1381 c PRX043 Peroxisome Biogenesis Disorder 6b 20
1382 MTC025 Mitochondrial Myopathy with Diabetes 20
1383 c CTR163 Cataract 46, Juvenile-Onset 20
1384 c CTR185 Cataract 30 20
1385 c CTR111 Cataract 36 20
1386 c PRX066 Peroxisome Biogenesis Disorder 3b 19
1387 c DMN028 Diamond-Blackfan Anemia 12 19
1388 c PRX056 Peroxisome Biogenesis Disorder 11b 19
1389 c HYP819 Hyperlipoproteinemia, Type Id 19
1390 FTL054 Fatal Infantile Cytochrome C Oxidase Deficiency 19
1391 c DMN022 Diamond-Blackfan Anemia 9 19
1392 P PRX064 Peroxisome Biogenesis Disorder 2b 19
1393 c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 19
1394 c PLL014 Pellagra-Like Syndrome 19
1395 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 19
1396 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 19
1397 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 18
1398 c CTR178 Cataract 27 18
1399 c CTR097 Cataract 34, Multiple Types 18
1400 c CTR157 Cataract 28 18
1401 c CTR139 Cataract 42 18
1402 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1403 c HYP302 Hypomagnesemia 4, Renal 18
1404 c HYP804 Hyperlipidemia, Combined, 1 18
1405 c CTR110 Cataract 26, Multiple Types 18
1406 c CTR106 Cataract 20, Multiple Types 18
1407 P HYP821 Hypermanganesemia with Dystonia 18
1408 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 18
1409 c HYP163 Hyperlipidemia Type 3 18
1410 c PRX089 Peroxisome Biogenesis Disorder 10b 18
1411 BLC018 Bile Acid Synthesis Defect, Congenital, 6 18
1412 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
1413 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 18
1414 c HYP290 Hypobetalipoproteinemia, Familial, 2 18
1415 c JVN052 Juvenile-Onset Parkinson Disease 18
1416 BLC016 Bile Acid Synthesis Defect, Congenital, 5 18
1417 c CTR160 Cataract 45 18
1418 ATS300 Autosomal Dominant Optic Atrophy, Classic Form 18
1419 c PRX068 Peroxisome Biogenesis Disorder 7b 18
1420 c PRK058 Parkinson Disease 16 17
1421 c ANM034 Anemia, Sideroblastic, 4 17
1422 c DWL003 Dowling-Degos Disease 2 17
1423 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1424 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1425 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1426 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
1427 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1428 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1429 c CTR144 Cataract 43 17
1430 c CHR549 Charcot-Marie-Tooth Disease Type 2l 17
1431 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
1432 c PRK022 Parkinson Disease 12 16
1433 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 16
1434 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
1435 GBM001 Gaba Aminotransferase Deficiency 16
1436 c DMN005 Diamond-Blackfan Anemia 2 16
1437 c DMN039 Diamond-Blackfan Anemia 17 16
1438 c DWL004 Dowling-Degos Disease 4 16
1439 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
1440 c D2H003 D-2-Hydroxyglutaric Aciduria 2 15
1441 c ESS007 Essential Pentosuria 15
1442 c DMN030 Diamond-Blackfan Anemia 13 15
1443 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
1444 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 15
1445 DBS003 Dibasic Amino Aciduria I 15
1446 P ACQ013 Acquired Fructose Intolerance 15
1447 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 15
1448 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1449 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14
1450 c CHR550 Charcot-Marie-Tooth Disease Type 2n 14
1451 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
1452 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 14
1453 c CTR128 Cataract 33 14
1454 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
1455 c PRK083 Parkinson Disease 22, Autosomal Dominant 14
1456 c HYP333 Hyperlipidemia, Combined, 2 14
1457 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
1458 c DWL005 Dowling-Degos Disease 3 13
1459 INT043 Intestinal Disaccharidase Deficiency 12
1460 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1461 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1462 c CHR551 Charcot-Marie-Tooth Disease Type 2o 12
1463 c PRM209 Primary Trimethylaminuria 11
1464 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 11
1465 c KRN003 Kernicterus Due to Isoimmunization 10
1466 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
1467 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
1468 c CHR571 Charcot-Marie-Tooth Disease Type 5 10
1469 c PSD023 Pseudo-Gaucher Disease 10
1470 c INT094 Intermediate Severe Salla Disease 9
1471 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
1472 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1473 c CHR572 Charcot-Marie-Tooth Disease Type 7 9
1474 c FCS008 Fucosidosis Type 1 8
1475 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1476 SYN085 Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 7
1477 FTL050 Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency 7
1478 c CTR008 Cataract Congenital Autosomal Dominant 7
1479 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 7
1480 c ATS269 Autosomal Dominant Sideroblastic Anemia 6
1481 MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 6
1482 c SDR005 Sideroblastic Anemia Acquired 6
1483 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
1484 INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1485 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 3
1486 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 3
1487 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
1488 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 34
1489 MHM001 Mehmo Syndrome 30
1490 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1491 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26
1492 MTC026 Mitochondrial Myopathy with Lactic Acidosis 26
1493 c MGL018 Megaloblastic Anemia 1 43
1494 P HYP658 Hypoplastic Amelogenesis Imperfecta 27
1495 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 15
1496 P HYP607 Hypercholesterolemia, Familial 81
1497 P LVR013 Liver Disease 76
1498 PHN003 Phenylketonuria 73
1499 WLS001 Wilson Disease 72
1500 c HMC039 Hemochromatosis, Type 1 71
1501 LGH007 Leigh Syndrome 68
1502 P MPL001 Maple Syrup Urine Disease 66
1503 LPD012 Lipoid Congenital Adrenal Hyperplasia 66
1504 ACR006 Aceruloplasminemia 65
1505 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
1506 HYP020 Hyperprolactinemia 64
1507 MNK001 Menkes Disease 64
1508 P HYP802 Hypocalcemia, Autosomal Dominant 1 64
1509 RFS006 Refsum Disease, Classic 63
1510 LWC002 Lowe Oculocerebrorenal Syndrome 62
1511 P HRM001 Hermansky-Pudlak Syndrome 62
1512 P CRG003 Crigler-Najjar Syndrome, Type I 62
1513 DBT083 Diabetes Mellitus, Permanent Neonatal 62
1514 HYP190 Hypoalphalipoproteinemia, Primary 61
1515 ALP103 Alpha-1-Antitrypsin Deficiency 60
1516 P HYP370 Hypokalemic Periodic Paralysis, Type 1 59
1517 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59
1518 CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 58
1519 P HYP097 Hyperekplexia 57
1520 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57
1521 c GCH015 Gaucher Disease, Type I 57
1522 HYP052 Hyperkalemic Periodic Paralysis 57
1523 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57
1524 CYS010 Cystinosis 55
1525 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55
1526 MTC097 Mitochondrial Complex Iv Deficiency 55
1527 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 55
1528 MTC027 Mitochondrial Trifunctional Protein Deficiency 55
1529 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55
1530 c TYR012 Tyrosinemia, Type I 55
1531 CPR004 Coproporphyria, Hereditary 54
1532 CHY002 Chylomicron Retention Disease 54
1533 P CNV004 Canavan Disease 54
1534 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54
1535 PRN001 Purine Nucleoside Phosphorylase Deficiency 53
1536 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
1537 CRN239 Carnitine Deficiency, Systemic Primary 52
1538 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
1539 BRT005 Barth Syndrome 52
1540 c ACT134 Acute Liver Failure 52
1541 ATR002 Atransferrinemia 52
1542 NNT017 Neonatal Adrenoleukodystrophy 52
1543 CHN055 Chanarin-Dorfman Syndrome 51
1544 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 51
1545 GYR004 Gyrate Atrophy of Choroid and Retina 51
1546 PPL049 Papillon-Lefevre Syndrome 50
1547 TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50
1548 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50
1549 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
1550 NPH003 Nephrocalcinosis 49
1551 P FML068 Familial Hypocalciuric Hypercalcemia 49
1552 P PLM085 Pulmonary Hemosiderosis 48
1553 c HYP740 Hyperlipoproteinemia, Type V 48
1554 P PRM001 Primary Cutaneous Amyloidosis 48
1555 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 48
1556 c GCH017 Gaucher Disease, Type Iii 47
1557 DNN001 Danon Disease 47
1558 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
1559 CYS036 Cystinosis, Nephropathic 47
1560 CRN295 Carnitine Palmitoyltransferase I Deficiency 46
1561 FML026 Familial Lipoprotein Lipase Deficiency 46
1562 HST006 Histidinemia 46
1563 c EXS019 Exostoses, Multiple, Type I 46
1564 P NRD007 Neurodegeneration with Brain Iron Accumulation 46
1565 P HRD001 Hereditary Multiple Exostoses 45
1566 c GCH016 Gaucher Disease, Type Ii 45
1567 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 45
1568 c HRM017 Hermansky-Pudlak Syndrome 2 45
1569 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 44
1570 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43
1571 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
1572 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42
1573 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 42
1574 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 41
1575 FML036 Familial Periodic Paralysis 41
1576 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 41
1577 DBT090 Diabetes and Deafness, Maternally Inherited 40
1578 P AMY084 Amyloidosis, Finnish Type 40
1579 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 40
1580 CNG436 Congenital Disorder of Deglycosylation 40
1581 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 40
1582 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 39
1583 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39
1584 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39
1585 P HYP769 Hyperlysinemia, Type I 38
1586 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1587 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1588 DCR008 Dicarboxylic Aminoaciduria 38
1589 GLT018 Glut1 Deficiency Syndrome 1 37
1590 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 37
1591 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
1592 c HYP534 Hypomagnesemia 3, Renal 37
1593 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36
1594 GRN013 Greenberg Dysplasia 36
1595 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 36
1596 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36
1597 MTC061 Mitochondrial Dna Depletion Syndrome 1 35
1598 NTR007 Neutral Lipid Storage Disease with Myopathy 35
1599 c EXS020 Exostoses, Multiple, Type Ii 35
1600 WRN004 Wrinkly Skin Syndrome 35
1601 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1602 SNG007 Sengers Syndrome 34
1603 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
1604 P PRR025 Perrault Syndrome 34
1605 P HYP210 Hypomagnesemia 2, Renal 33
1606 c INF145 Infantile Liver Failure Syndrome 1 33
1607 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 33
1608 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 32
1609 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1610 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 31
1611 c SCH069 Schindler Disease, Type I 31
1612 HMM002 Haim-Munk Syndrome 31
1613 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31
1614 GCH018 Gaucher Disease, Perinatal Lethal 31
1615 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
1616 GLY058 Glycogen Storage Disease 0, Liver 31
1617 AMN007 Aminoacylase 1 Deficiency 30
1618 BLC008 Bile Acid Synthesis Defect, Congenital, 2 30
1619 HSD004 Hsd10 Mitochondrial Disease 30
1620 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1621 IMM080 Immunodeficiency 23 29
1622 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 29
1623 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 29
1624 CMB026 Combined Oxidative Phosphorylation Deficiency 12 29
1625 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1626 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
1627 P MNT319 Mental Retardation, Autosomal Dominant 20 28
1628 BLC009 Bile Acid Synthesis Defect, Congenital, 4 28
1629 c LVR030 Liver Failure, Infantile, Transient 27
1630 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 27
1631 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 27
1632 CKS001 Ck Syndrome 27
1633 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 26
1634 c HYP757 Hyperekplexia, Hereditary 1 26
1635 ART103 Arthrogryposis, Mental Retardation, and Seizures 26
1636 c MNT185 Mental Retardation, Autosomal Dominant 7 26
1637 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
1638 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 26
1639 DFN350 Deafness, Aminoglycoside-Induced 26
1640 c MNT212 Mental Retardation, Autosomal Dominant 26 26
1641 MTC065 Mitochondrial Dna Depletion Syndrome 8a 25
1642 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 25
1643 c MNT210 Mental Retardation, Autosomal Recessive 42 25
1644 GLT011 Glutamine Deficiency, Congenital 25
1645 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
1646 c HYP699 Hyperekplexia 1 25
1647 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1648 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1649 c PRR020 Perrault Syndrome 1 24
1650 c MNT145 Mental Retardation, Autosomal Recessive 5 24
1651 c MNT157 Mental Retardation, Autosomal Dominant 18 24
1652 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 24
1653 c MNT280 Mental Retardation, Autosomal Dominant 43 24
1654 c MNT143 Mental Retardation, Autosomal Dominant 13 23
1655 c MNT246 Mental Retardation, Autosomal Dominant 38 23
1656 c MNT241 Mental Retardation, Autosomal Dominant 32 23
1657 c MNT270 Mental Retardation, Autosomal Recessive 53 23
1658 c FML249 Familial Amyloidosis, Finnish Type 23
1659 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 23
1660 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23
1661 CYS045 Cystinosis, Adult Nonnephropathic 23
1662 c SPS208 Spastic Ataxia 4, Autosomal Recessive 22
1663 c MNT321 Mental Retardation, Autosomal Recessive 37 22
1664 c MNT214 Mental Retardation, Autosomal Dominant 24 22
1665 c MNT262 Mental Retardation, Autosomal Dominant 42 22
1666 c MNT176 Mental Retardation, Autosomal Recessive 38 22
1667 c MNT322 Mental Retardation, Autosomal Dominant 27 22
1668 c MNT226 Mental Retardation, Autosomal Dominant 31 22
1669 c MNT213 Mental Retardation, Autosomal Recessive 40 22
1670 c MNT242 Mental Retardation, Autosomal Dominant 40 22
1671 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1672 c MNT150 Mental Retardation, Autosomal Recessive 15 22
1673 c PRR024 Perrault Syndrome 3 22
1674 c MNT166 Mental Retardation, Autosomal Recessive 39 21
1675 c MNT222 Mental Retardation, Autosomal Dominant 29 21
1676 c MNT273 Mental Retardation, Autosomal Dominant 44 21
1677 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
1678 HYP187 Hypertryptophanemia 21
1679 c MNT221 Mental Retardation, Autosomal Recessive 44 21
1680 c MNT234 Mental Retardation, Autosomal Recessive 48 21
1681 c MNT216 Mental Retardation, Autosomal Recessive 41 21
1682 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
1683 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1684 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
1685 c MNT211 Mental Retardation, Autosomal Dominant 23 21
1686 c MNT159 Mental Retardation, Autosomal Dominant 19 20
1687 c MNT238 Mental Retardation, Autosomal Dominant 34 20
1688 c MNT219 Mental Retardation, Autosomal Dominant 30 20
1689 c MNT287 Mental Retardation, Autosomal Recessive 57 20
1690 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20
1691 c MNT183 Mental Retardation, Autosomal Recessive 36 20
1692 c MNT227 Mental Retardation, Autosomal Recessive 46 20
1693 c MNT244 Mental Retardation, Autosomal Recessive 49 20
1694 c MNT177 Mental Retardation, Autosomal Recessive 27 20
1695 c MNT282 Mental Retardation, Autosomal Recessive 55 20
1696 c MNT239 Mental Retardation, Autosomal Dominant 35 20
1697 c PRR026 Perrault Syndrome 5 20
1698 c MNT179 Mental Retardation, Autosomal Dominant 21 20
1699 c MNT155 Mental Retardation, Autosomal Recessive 2 20
1700 c MNT236 Mental Retardation, Autosomal Dominant 39 19
1701 c MNT275 Mental Retardation, Autosomal Recessive 60 19
1702 c MNT245 Mental Retardation, Autosomal Dominant 36 19
1703 c MNT220 Mental Retardation, Autosomal Recessive 45 19
1704 c MNT154 Mental Retardation, Autosomal Recessive 14 19
1705 c HYP445 Hypomagnesemia 6, Renal 19
1706 c MNT162 Mental Retardation, Autosomal Recessive 24 19
1707 c MNT240 Mental Retardation, Autosomal Dominant 33 19
1708 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 19
1709 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 19
1710 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1711 c MNT225 Mental Retardation, Autosomal Recessive 47 19
1712 c MNT215 Mental Retardation, Autosomal Recessive 43 19
1713 c INF138 Infantile Liver Failure Syndrome 2 18
1714 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1715 c PRR021 Perrault Syndrome 4 18
1716 c MNT325 Mental Retardation, Autosomal Recessive 61 18
1717 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1718 c EXS021 Exostoses, Multiple, Type Iii 18
1719 c MNT165 Mental Retardation, Autosomal Recessive 28 18
1720 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1721 ATP003 Atp6v0a2-Related Cutis Laxa 18
1722 CPP001 Copper Deficiency, Familial Benign 18
1723 c MNT263 Mental Retardation, Autosomal Recessive 51 18
1724 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1725 c MNT182 Mental Retardation, Autosomal Recessive 19 18
1726 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1727 c MNT272 Mental Retardation, Autosomal Dominant 41 18
1728 c HYP519 Hyperekplexia 3 17
1729 c MNT281 Mental Retardation, Autosomal Recessive 59 17
1730 c MNT279 Mental Retardation, Autosomal Dominant 47 17
1731 c MNT170 Mental Retardation, Autosomal Recessive 23 17
1732 c MNT286 Mental Retardation, Autosomal Dominant 45 17
1733 c MNT151 Mental Retardation, Autosomal Recessive 18 17
1734 c MNT243 Mental Retardation, Autosomal Recessive 50 17
1735 c HYP510 Hyperekplexia 2 17
1736 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 17
1737 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1738 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 17
1739 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1740 c MNT328 Mental Retardation, Autosomal Dominant 52 16
1741 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1742 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
1743 c MNT324 Mental Retardation, Autosomal Dominant 49 16
1744 c MNT278 Mental Retardation, Autosomal Dominant 46 16
1745 c PRR022 Perrault Syndrome 2 16
1746 c MNT184 Mental Retardation, Autosomal Dominant 11 16
1747 c MNT186 Mental Retardation, Autosomal Dominant 10 16
1748 c MNT323 Mental Retardation, Autosomal Dominant 48 15
1749 c PRR033 Perrault Syndrome 6 15
1750 c MNT329 Mental Retardation, Autosomal Dominant 53 15
1751 c MNT327 Mental Retardation, Autosomal Dominant 51 15
1752 c MNT330 Mental Retardation, Autosomal Dominant 54 15
1753 c MNT326 Mental Retardation, Autosomal Dominant 50 14
1754 c SPR097 Sporadic Hyperekplexia 13
1755 c MNT332 Mental Retardation, Autosomal Dominant 56 12
1756 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
1757 c SCN047 Secondary Pulmonary Hemosiderosis 10
1758 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1759 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1760 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
1761 CYS001 Cystic Fibrosis 85
1762 ADR007 Adrenoleukodystrophy 72
1763 SMT004 Smith-Lemli-Opitz Syndrome 70
1764 P PRP003 Porphyria Cutanea Tarda 67
1765 TNG002 Tangier Disease 65
1766 ABT001 Abetalipoproteinemia 64
1767 LSC001 Lesch-Nyhan Syndrome 62
1768 LYS012 Lysosomal Acid Lipase Deficiency 60
1769 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
1770 KRN002 Kearns-Sayre Syndrome 59
1771 WLK001 Walker-Warburg Syndrome 59
1772 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
1773 LBR002 Leber Hereditary Optic Neuropathy 57
1774 PSD014 Pseudopseudohypoparathyroidism 56
1775 GLB001 Gilbert Syndrome 55
1776 c LPD015 Lipodystrophy, Familial Partial, Type 2 55
1777 ALB001 Albright's Hereditary Osteodystrophy 55
1778 P FML012 Familial Partial Lipodystrophy 53
1779 P SJG002 Sjogren-Larsson Syndrome 52
1780 MSC077 Muscle Eye Brain Disease 51
1781 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 51
1782 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
1783 RNL024 Renal Glucosuria 50
1784 MTC056 Mitochondrial Dna Depletion Syndrome 4a 49
1785 PRS127 Pearson Marrow-Pancreas Syndrome 45
1786 c OPT053 Optic Atrophy 1 45
1787 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 42
1788 MTC054 Mitochondrial Dna Depletion Syndrome 7 41
1789 c HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 40
1790 PRM237 Primary Hypomagnesemia 40
1791 c LPD019 Lipodystrophy, Partial, Acquired 38
1792 DBR002 De Barsy Syndrome 38
1793 HYP550 Hypomagnesemia 1, Intestinal 38
1794 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
1795 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1796 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 36
1797 c LPD021 Lipodystrophy, Familial Partial, Type 3 36
1798 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
1799 BLC007 Bile Acid Synthesis Defect, Congenital, 1 34
1800 BJR001 Bjornstad Syndrome 32
1801 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
1802 c LPD040 Lipodystrophy, Familial Partial, Type 1 28
1803 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 27
1804 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
1805 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1806 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 24
1807 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1808 c OPT064 Optic Atrophy 11 24
1809 P PRM016 Primary Optic Atrophy 23
1810 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23
1811 P HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 23
1812 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 23
1813 c OPT023 Optic Atrophy 2 23
1814 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
1815 c OPT060 Optic Atrophy 8 21
1816 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
1817 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
1818 BLD065 Blue Diaper Syndrome 20
1819 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 19
1820 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 19
1821 c OPT065 Optic Atrophy 9 18
1822 c OPT025 Optic Atrophy 6 18
1823 c OPT024 Optic Atrophy 5 16
1824 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
1825 c OPT059 Optic Atrophy 4 12
1826 c SJG003 Sjogren-Larsson-Like Syndrome 7
1827 AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57
1828 FNC009 Fanconi-Bickel Syndrome 53
1829 AMY082 Amyloidosis, Familial Visceral 47
1830 P HRD021 Hereditary Sensory Neuropathy 47
1831 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
1832 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
1833 c SNS009 Sensory Neuropathy Type 1 27
1834 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
1835 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
1836 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 19
1837 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45
1838 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
1839 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 38
1840 P XLN110 X-Linked Charcot-Marie-Tooth Disease 34
1841 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
1842 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
1843 KRT002 Keratomalacia 55
1844 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21



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