Metabolic Diseases Category (2220 diseases)


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

# Family MCID Name MIFTS
1 P BDY004 Body Mass Index Quantitative Trait Locus 11 74
2 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
3 c BDY013 Body Mass Index Quantitative Trait Locus 5 11
4 c BDY009 Body Mass Index Quantitative Trait Locus 3 10
5 c BDY014 Body Mass Index Quantitative Trait Locus 6 10
6 c BDY008 Body Mass Index Quantitative Trait Locus 2 10
7 c BDY018 Body Mass Index Quantitative Trait Locus 15 9
8 c BDY016 Body Mass Index Quantitative Trait Locus 13 9
9 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 48
10 c INH020 Inherited Metabolic Disorder 54
11 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 58
12 CRB025 Carbohydrate Metabolic Disorder 48
13 HYP835 Hypothalamic Obesity 44
14 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 15
15 NTR005 Nutritional Deficiency Disease 60
16 LPT006 Leptin Receptor Deficiency 40
17 LPD008 Lipid Metabolism Disorder 65
18 MMS001 Momo Syndrome 30
19 P DRG021 Drug Metabolism, Poor, Cyp2c19-Related 28
20 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
21 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 13
22 AMN002 Amino Acid Metabolic Disorder 49
23 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
24 CHN016 Cohen Syndrome 54
25 LPT014 Leptin Deficiency or Dysfunction 40
26 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 36
27 HYD021 Hydrocephalus Obesity Hypogonadism 17
28 P THP004 Thiopurines, Poor Metabolism of, 1 35
29 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 30
30 CNG376 Congenital Leptin Deficiency 26
31 c BDY020 Body Mass Index Quantitative Trait Locus 19 43
32 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
33 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 8
34 MRB003 Morbid Obesity 62
35 URC002 Urea Cycle Disorder 50
36 c BDY019 Body Mass Index Quantitative Trait Locus 18 43
37 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
38 PHS001 Phosphorus Metabolism Disease 40
39 c BDY005 Body Mass Index Quantitative Trait Locus 9 29
40 c BDY015 Body Mass Index Quantitative Trait Locus 12 28
41 c BDY010 Body Mass Index Quantitative Trait Locus 4 27
42 c BDY012 Body Mass Index Quantitative Trait Locus 7 27
43 c BDY006 Body Mass Index Quantitative Trait Locus 8 27
44 INB001 Inborn Amino Acid Metabolism Disorder 16
45 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 44
46 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 28
47 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 28
48 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 25
49 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 22
50 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 22
51 MTL002 Metal Metabolism Disorder 40
52 MNR003 Mineral Metabolism Disease 38
53 SRF006 Surfactant Dysfunction 37
54 PRP098 Proprotein Convertase 1/3 Deficiency 31
55 THY064 Thyroid Hormone Metabolism, Abnormal 23
56 PYR035 Pyrimidine Metabolic Disorder 21
57 MRB006 Morbid Obesity and Spermatogenic Failure 19
58 IRN002 Iron Metabolism Disease 60
59 GLC008 Glucose Metabolism Disease 54
60 CHP002 Chops Syndrome 32
61 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
62 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62
63 MTB004 Metabolic Acidosis 51
64 OBS037 Obesity-Hypoventilation Syndrome 50
65 ORG002 Organic Acidemia 38
66 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 28
67 RHH001 Rohhad 27
68 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 23
69 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
70 MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 53
71 MTC005 Mitochondrial Metabolism Disease 46
72 MRS001 Marasmus 43
73 MTH021 Methylmalonic Acidemia with Homocystinuria 39
74 STR018 Steroid Inherited Metabolic Disorder 35
75 PRN024 Purine-Pyrimidine Metabolic Disorder 23
76 HST007 Histidine Metabolism Disease 23
77 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 21
78 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 19
79 RTN173 Retinal Dystrophy and Obesity 19
80 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
81 CLP006 Clopidogrel Resistance 45
82 c BDY011 Body Mass Index Quantitative Trait Locus 10 41
83 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
84 DSR002 Disorders of Intracellular Cobalamin Metabolism 17
85 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
86 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 10
87 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
88 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 3
89 LYS002 Lysosomal Storage Disease 56
90 BLR008 Bilirubin Metabolic Disorder 53
91 OBS015 Obesity, Hyperphagia, and Developmental Delay 26
92 DVL020 Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features 21
93 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 18
94 DBT084 Diabetes Mellitus, Ketosis-Prone 62
95 P ACQ009 Acquired Metabolic Disease 32
96 PLS010 Plasma Protein Metabolism Disease 25
97 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 21
98 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21
99 VTM003 Vitamin Metabolic Disorder 20
100 c THP005 Thiopurines, Poor Metabolism of, 2 13
101 c DRG023 Drug Metabolism, Altered, Ces1-Related 6
102 P DRG022 Drug Metabolism, Altered, Cyp2c8-Related 6
103 OVR063 Overnutrition 53
104 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 53
105 P MGL001 Megaloblastic Anemia 52
106 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 45
107 ACT149 Acetaminophen Metabolism 41
108 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 41
109 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 38
110 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
111 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
112 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
113 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
114 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 31
115 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
116 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 31
117 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
118 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
119 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 29
120 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 29
121 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
122 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 29
123 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 28
124 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 27
125 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
126 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 26
127 ANT078 Antipyrine Metabolism 25
128 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 24
129 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 24
130 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
131 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 23
132 c DRG020 Drug Metabolism, Poor, Cyp2d6-Related 22
133 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
134 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
135 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 21
136 MTC079 Mitochondrial Pyruvate Carrier Deficiency 19
137 ERY030 Erythrocyte Lactate Transporter Defect 18
138 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
139 SHR107 Short Stature-Obesity Syndrome 17
140 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17
141 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
142 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 14
143 OBS060 Obesity Due to Sim1 Deficiency 12
144 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
145 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 9
146 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
147 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 8
148 CHR069 Chronic Metabolic Polyneuropathy 4
149 HYL006 Hyaluronan Metabolism, Defect in 3
150 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 92
151 CYS001 Cystic Fibrosis 83
152 P PRK057 Parkinson Disease, Late-Onset 77
153 PHN003 Phenylketonuria 75
154 c HMC039 Hemochromatosis, Type 1 74
155 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
156 ADR007 Adrenoleukodystrophy 72
157 FBR012 Fabry Disease 72
158 P DMN001 Diamond-Blackfan Anemia 71
159 P TYS001 Tay-Sachs Disease 70
160 P AMY004 Amyloidosis 69
161 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
162 c HRD010 Hereditary Spastic Paraplegia 69
163 SMT004 Smith-Lemli-Opitz Syndrome 69
164 c NMN015 Niemann-Pick Disease, Type C1 68
165 LWC002 Lowe Oculocerebrorenal Syndrome 67
166 c GLY008 Glycogen Storage Disease Ii 67
167 c MCP050 Mucopolysaccharidosis, Type Ii 67
168 P GCH001 Gaucher's Disease 66
169 P KRB001 Krabbe Disease 66
170 c LPM012 Lipomatosis, Multiple 66
171 c MCL062 Mucolipidosis Ii Alpha/beta 65
172 P ENC018 Encephalopathy 65
173 CRB011 Cerebrotendinous Xanthomatosis 65
174 P HML002 Hemolytic Anemia 65
175 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
176 c MCP049 Mucopolysaccharidosis, Type Vii 65
177 c GCH015 Gaucher Disease, Type I 65
178 HYP066 Hyperglycemia 65
179 P BRD002 Bardet-Biedl Syndrome 65
180 TNG002 Tangier Disease 64
181 c MCP001 Mucopolysaccharidosis Iii 63
182 LSC001 Lesch-Nyhan Syndrome 63
183 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 63
184 RFS006 Refsum Disease, Classic 63
185 c GLY060 Glycogen Storage Disease Ia 62
186 P CTS001 Cutis Laxa 62
187 c MCP052 Mucopolysaccharidosis, Type Vi 62
188 c GLY003 Glycogen Storage Disease Iii 62
189 ALP103 Alpha-1-Antitrypsin Deficiency 62
190 P NRN021 Neuronal Ceroid Lipofuscinosis 62
191 P GLY013 Glycogen Storage Disease 62
192 c ANM038 Anemia, Autoimmune Hemolytic 61
193 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
194 LYS012 Lysosomal Acid Lipase Deficiency 60
195 P PRP029 Porphyria 60
196 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
197 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
198 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
199 ARG002 Argininosuccinic Aciduria 60
200 c MCP004 Mucopolysaccharidosis Iv 60
201 c ALM001 Al Amyloidosis 60
202 c PRT132 Protoporphyria, Erythropoietic, 1 59
203 c PRX045 Peroxisome Biogenesis Disorder 1b 59
204 GLC003 Glucose Intolerance 59
205 c NMN016 Niemann-Pick Disease, Type B 59
206 c CRP023 Carpenter Syndrome 1 59
207 P NPH012 Nephrotic Syndrome 59
208 c GCH016 Gaucher Disease, Type Ii 59
209 c GM1007 Gm1 Gangliosidosis 58
210 P OCL002 Oculocutaneous Albinism 58
211 c MNN047 Mannosidosis, Alpha B, Lysosomal 58
212 PRP082 Porphyria, Congenital Erythropoietic 58
213 PRP032 Porphyria Variegata 57
214 HYP060 Hyperinsulinism 57
215 c GLY005 Glycogen Storage Disease Vi 57
216 CPR004 Coproporphyria, Hereditary 57
217 c GM1004 Gm1-Gangliosidosis, Type I 57
218 P ZLL001 Zellweger Syndrome 57
219 HYP005 Hypokalemia 56
220 CHN055 Chanarin-Dorfman Syndrome 56
221 c AMY009 Amyloidosis Aa 56
222 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 56
223 ASP002 Aspartylglucosaminuria 56
224 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 56
225 ART002 Arts Syndrome 56
226 MTC097 Mitochondrial Complex Iv Deficiency 55
227 HRL003 Hurler Syndrome 55
228 P HYP050 Hyperinsulinemic Hypoglycemia 55
229 c ANM036 Anemia, Sideroblastic, 1 55
230 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 55
231 c GLY004 Glycogen Storage Disease V 55
232 c GCH017 Gaucher Disease, Type Iii 55
233 XNT003 Xanthomatosis 54
234 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
235 P PRM002 Primary Hyperoxaluria 54
236 MLT135 Multiple Sulfatase Deficiency 54
237 c DMN023 Diamond-Blackfan Anemia 1 53
238 PRT038 Protein-Energy Malnutrition 53
239 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
240 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
241 ERL001 Early Myoclonic Encephalopathy 53
242 c NMN014 Niemann-Pick Disease, Type C2 53
243 P LCT001 Lactic Acidosis 53
244 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
245 c MCP043 Mucopolysaccharidosis, Type Iiia 53
246 P LPM005 Lipomatosis 53
247 CLC006 Calcinosis 53
248 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 53
249 c GLY007 Glycogen Storage Disease Iv 52
250 PRN011 Pernicious Anemia 52
251 GLC012 Galactosialidosis 52
252 P PRC019 Precocious Puberty 52
253 c CNT075 Central Precocious Puberty 52
254 BRT005 Barth Syndrome 52
255 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
256 c CNG027 Congenital Hemolytic Anemia 52
257 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 52
258 P MTC133 Mitochondrial Myopathy 52
259 NNT017 Neonatal Adrenoleukodystrophy 52
260 c GLY011 Glycogen Storage Disease Vii 52
261 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
262 PRD004 Prediabetes Syndrome 51
263 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 51
264 c PRX059 Peroxisome Biogenesis Disorder 1a 51
265 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
266 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
267 P NMN002 Niemann-Pick Disease 50
268 P NGH001 Night Blindness 50
269 P NLX004 Neu-Laxova Syndrome 1 50
270 DNN001 Danon Disease 50
271 ORT008 Orotic Aciduria 49
272 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
273 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
274 c GM2006 Gm2 Gangliosidosis 49
275 P TYR004 Tyrosinemia 49
276 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
277 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
278 c ACT078 Acute Porphyria 49
279 P ERL057 Early Infantile Epileptic Encephalopathy 49
280 FRB001 Farber Lipogranulomatosis 49
281 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
282 HYP025 Hyperphosphatemia 49
283 c HRD039 Hereditary Amyloidosis 48
284 VTM002 Vitamin B12 Deficiency 48
285 HYP347 Hypotonia-Cystinuria Syndrome 48
286 P HYP058 Hypervitaminosis a 48
287 c HMC010 Hemochromatosis, Type 3 48
288 P NNT009 Neonatal Diabetes Mellitus 48
289 TRN022 Transcobalamin Ii Deficiency 48
290 c ALB019 Albinism, Oculocutaneous, Type Iv 47
291 HRT031 Hartnup Disorder 47
292 c NPH055 Nephrotic Syndrome, Type 1 47
293 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
294 c TYR013 Tyrosinemia, Type Ii 47
295 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
296 c CHR095 Chronic Progressive External Ophthalmoplegia 47
297 c BRD044 Bardet-Biedl Syndrome 17 47
298 P GNG009 Gangliosidosis 47
299 LPP002 Lipoprotein Glomerulopathy 47
300 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 47
301 c HMC009 Hemochromatosis Type 2 46
302 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
303 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
304 PRX001 Peroxisomal Disease 46
305 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
306 c HMC035 Hemochromatosis, Type 4 46
307 MNC019 Monocarboxylate Transporter 1 Deficiency 46
308 P MCL001 Mucolipidosis 46
309 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
310 c ALB015 Albinism, Oculocutaneous, Type V 46
311 P MNN018 Mannosidosis 45
312 c GM1005 Gm1-Gangliosidosis, Type Ii 45
313 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 45
314 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 45
315 c BRD032 Bardet-Biedl Syndrome 14 45
316 RBF001 Riboflavin Deficiency 45
317 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
318 P TRM004 Trimethylaminuria 45
319 c MCP047 Mucopolysaccharidosis, Type Iva 45
320 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 45
321 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
322 PRS127 Pearson Marrow-Pancreas Syndrome 44
323 c MCP044 Mucopolysaccharidosis, Type Iiib 44
324 MHR001 Mohr-Tranebjaerg Syndrome 44
325 P MTC004 Mitochondrial Encephalomyopathy 44
326 P JVN024 Juvenile Hereditary Hemochromatosis 44
327 c TYR011 Tyrosinemia, Type Iii 44
328 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 43
329 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 43
330 c HYP794 Hyperoxaluria, Primary, Type I 43
331 c 3MT014 3-Methylglutaconic Aciduria, Type V 43
332 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
333 P SDR003 Sideroblastic Anemia 43
334 PHS021 Phosphoglycerate Dehydrogenase Deficiency 43
335 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 43
336 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 43
337 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
338 c HYP057 Hypervitaminosis D 43
339 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
340 NNK001 Nonaka Myopathy 42
341 c BRD033 Bardet-Biedl Syndrome 13 42
342 c FML015 Familial Nephrotic Syndrome 42
343 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
344 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 42
345 c BRD048 Bardet-Biedl Syndrome 18 42
346 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
347 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
348 DBT090 Diabetes and Deafness, Maternally Inherited 41
349 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 41
350 c ALB016 Albinism, Oculocutaneous, Type Vii 41
351 c MCL016 Mucolipidosis Iii Gamma 41
352 c HMC021 Hemochromatosis, Type 2a 41
353 P MYG005 Myoglobinuria 41
354 P XNT004 Xanthinuria 41
355 ARB001 Ariboflavinosis 40
356 c ERL056 Early-Onset Parkinson's Disease 40
357 c SPN330 Spondylocostal Dysostosis 5 40
358 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
359 c GLY098 Glycogen Storage Disease, Type Ixd 40
360 c XNT010 Xanthinuria, Type I 40
361 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
362 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
363 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
364 BTN004 Biotin Deficiency 40
365 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
366 CHL045 Choline Deficiency Disease 40
367 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
368 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
369 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
370 HRL004 Hurler-Scheie Syndrome 39
371 END028 Endemic Goiter 39
372 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
373 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 39
374 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 39
375 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
376 c BRD035 Bardet-Biedl Syndrome 15 39
377 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 39
378 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
379 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 39
380 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
381 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
382 c GLY023 Glycogen Storage Disease Type 0 39
383 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
384 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
385 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38
386 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 38
387 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
388 NTR007 Neutral Lipid Storage Disease with Myopathy 38
389 c MYC068 Myoclonic Epilepsy of Infancy 38
390 c NPH049 Nephrotic Syndrome, Type 2 38
391 c HYP602 Hyperoxaluria, Primary, Type Ii 38
392 c MYG007 Myoglobinuria, Recurrent 38
393 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
394 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
395 TRS021 Triosephosphate Isomerase Deficiency 38
396 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
397 CLS049 Classic Phenylketonuria 38
398 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 38
399 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
400 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
401 c GLY044 Glycogen Storage Disease Ixc 38
402 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
403 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
404 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
405 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
406 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 37
407 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
408 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
409 P SPS008 Spastic Ataxia 37
410 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
411 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
412 c MTC010 Mitochondrial Dna Depletion Syndrome 37
413 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
414 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
415 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
416 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
417 CTN011 Cutaneous Porphyria 37
418 CHL050 Cholesterol Ester Storage Disease 37
419 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
420 c GLY016 Glycogen Storage Disease Ib 36
421 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
422 c NPH070 Nephrotic Syndrome, Type 6 36
423 SLT014 Salt and Pepper Developmental Regression Syndrome 36
424 HYP550 Hypomagnesemia 1, Intestinal 36
425 CHR387 Chromosome Xp21 Deletion Syndrome 36
426 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
427 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
428 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
429 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
430 GLY032 Glycosylphosphatidylinositol Deficiency 36
431 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
432 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
433 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
434 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
435 c BRD045 Bardet-Biedl Syndrome 19 36
436 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 36
437 LGH012 Leigh Syndrome with Leukodystrophy 36
438 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
439 SNG007 Sengers Syndrome 35
440 c MCP051 Mucopolysaccharidosis, Type Ix 35
441 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
442 c NPH054 Nephrotic Syndrome, Type 3 35
443 c PRK025 Parkinson Disease 10 35
444 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
445 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
446 PCD001 Pica Disease 35
447 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
448 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
449 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
450 c XNT011 Xanthinuria, Type Ii 34
451 FLT009 Folate Malabsorption, Hereditary 34
452 c HRD173 Hereditary Late-Onset Parkinson Disease 34
453 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
454 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 34
455 INF159 Infantile Sialic Acid Storage Disease 34
456 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
457 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
458 c BRD047 Bardet-Biedl Syndrome 16 34
459 c MCP045 Mucopolysaccharidosis, Type Iiic 34
460 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
461 c HRD142 Hereditary Xanthinuria 34
462 c MCP048 Mucopolysaccharidosis, Type Ivb 33
463 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
464 c ORT011 Orthostatic Hypotension 1 33
465 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
466 KLL014 Kelley-Seegmiller Syndrome 33
467 c ZLL011 Zellweger Spectrum Disorder 33
468 P 3MT007 3-Methylglutaconic Aciduria 33
469 c PRP091 Porphyria Cutanea Tarda, Type I 33
470 GBT001 Gaba-Transaminase Deficiency 33
471 c DMN021 Diamond-Blackfan Anemia 6 33
472 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
473 c CNG379 Congenital Disorder of Glycosylation, Type It 33
474 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 33
475 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
476 HSD004 Hsd10 Mitochondrial Disease 33
477 c GM1006 Gm1-Gangliosidosis, Type Iii 33
478 c PRX055 Peroxisome Biogenesis Disorder 11a 33
479 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 32
480 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 32
481 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
482 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 32
483 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 32
484 c PRK085 Parkinson Disease 1, Autosomal Dominant 32
485 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
486 c HYP603 Hyperoxaluria, Primary, Type Iii 32
487 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
488 c BNG079 Benign Adult Familial Myoclonic Epilepsy 32
489 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 32
490 INC022 Inclusion-Cell Disease 32
491 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
492 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
493 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 32
494 c ORT012 Orthostatic Hypotension 2 32
495 PHS022 Phosphoserine Phosphatase Deficiency 32
496 c HMC034 Hemochromatosis, Type 5 32
497 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
498 PLY010 Polyclonal Hypergammaglobulinemia 31
499 CMB020 Combined Saposin Deficiency 31
500 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 31
501 SRC015 Sarcosinemia 31
502 c SPS031 Spastic Paraplegia 23 31
503 c MYC083 Myoclonic Epilepsy, Familial Infantile 31
504 c MCP046 Mucopolysaccharidosis, Type Iiid 31
505 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
506 P SPS012 Spastic Paraplegia 3a 31
507 CRT011 Carotenemia 31
508 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
509 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
510 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
511 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
512 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
513 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 31
514 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
515 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
516 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
517 FLC001 Folic Acid Deficiency Anemia 30
518 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
519 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
520 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
521 RBS005 Ribose 5-Phosphate Isomerase Deficiency 30
522 c CNG188 Congenital Disorder of Glycosylation, Type if 30
523 c ACQ027 Acquired Cutis Laxa 30
524 P EPL198 Epilepsy, Myoclonic Juvenile 30
525 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
526 PHS014 Phosphoglycerate Kinase 1 Deficiency 30
527 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
528 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 30
529 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
530 c PRX060 Peroxisome Biogenesis Disorder 5a 30
531 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
532 GLT005 Glutamate Formiminotransferase Deficiency 29
533 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
534 c PRX063 Peroxisome Biogenesis Disorder 2a 29
535 c NPH072 Nephrotic Syndrome, Type 7 29
536 MCL022 Mucolipidoses 29
537 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 29
538 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
539 c SPS039 Spastic Paraplegia 5a 29
540 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
541 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
542 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
543 GLT028 Glutaric Aciduria Iii 29
544 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
545 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 29
546 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
547 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
548 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
549 c GLY097 Glycogen Storage Disease Ixb 29
550 c GCH013 Gaucher Disease, Type Iiic 29
551 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
552 c PRX056 Peroxisome Biogenesis Disorder 11b 29
553 c GLY017 Glycogen Storage Disease Ic 29
554 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
555 c GLY009 Glycogen Storage Disease Xv 29
556 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
557 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 28
558 c SPS092 Spastic Paraplegia 11 28
559 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
560 c TYP035 Type 1 Diabetes Mellitus 11 28
561 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
562 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
563 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
564 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
565 c GLY043 Glycogen Storage Disease Xii 28
566 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
567 c PRK093 Parkinson Disease 8, Autosomal Dominant 28
568 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
569 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
570 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
571 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
572 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
573 c GLY057 Glycogen Storage Disease X 28
574 PYR009 Pyridoxine Deficiency Anemia 28
575 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
576 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
577 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
578 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
579 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
580 c PRX048 Peroxisome Biogenesis Disorder 10a 28
581 c PRX054 Peroxisome Biogenesis Disorder 12a 28
582 c PRX053 Peroxisome Biogenesis Disorder 14b 28
583 MYP097 Myopathy with Lactic Acidosis, Hereditary 28
584 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
585 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
586 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
587 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
588 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 27
589 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
590 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
591 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
592 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 27
593 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
594 c INF122 Infantile Krabbe Disease 27
595 c TYP037 Type 1 Diabetes Mellitus 13 27
596 ACD011 Acid Phosphatase Deficiency 27
597 LKT001 Leukotriene C4 Synthase Deficiency 27
598 MNC004 Monoclonal Paraproteinemia 27
599 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 27
600 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
601 c PRX051 Peroxisome Biogenesis Disorder 6a 27
602 c EPL155 Epilepsy, Progressive Myoclonic, 8 27
603 c CRP022 Carpenter Syndrome 2 27
604 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
605 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 27
606 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
607 CMB017 Combined Oxidative Phosphorylation Deficiency 6 26
608 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
609 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 26
610 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
611 c GLY006 Glycogen Storage Disease Viii 26
612 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
613 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 26
614 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
615 c SPS036 Spastic Paraplegia 3 26
616 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
617 c TYP033 Type 1 Diabetes Mellitus 7 26
618 c SPS091 Spastic Paraplegia 4 26
619 c PRK022 Parkinson Disease 12 26
620 c SPS021 Spastic Paraplegia 10 26
621 c DMN017 Diamond-Blackfan Anemia 10 26
622 MLD011 Mild Hyperphenylalaninemia 26
623 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 26
624 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
625 c ALB017 Albinism, Oculocutaneous, Type Vi 26
626 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
627 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
628 c HRD186 Hereditary Spastic Paraplegia 51 26
629 c BRD050 Bardet-Biedl Syndrome 21 26
630 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
631 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
632 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
633 P PRM227 Primary Orthostatic Hypotension 26
634 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
635 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
636 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
637 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 25
638 c PRX050 Peroxisome Biogenesis Disorder 9b 25
639 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
640 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
641 c NPH047 Nephrotic Syndrome, Type 4 25
642 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
643 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 25
644 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
645 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 25
646 c PRK065 Parkinson Disease 20, Early-Onset 25
647 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 25
648 c NPH102 Nephrotic Syndrome, Type 14 25
649 c ATS210 Autosomal Recessive Sideroblastic Anemia 25
650 c PRX046 Peroxisome Biogenesis Disorder 7a 25
651 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
652 c PRX091 Peroxisome Biogenesis Disorder 8a 25
653 c DMN022 Diamond-Blackfan Anemia 9 25
654 c TYP031 Type 1 Diabetes Mellitus 5 25
655 c PRX057 Peroxisome Biogenesis Disorder 4a 25
656 c SPS025 Spastic Paraplegia 15 25
657 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
658 c PRX065 Peroxisome Biogenesis Disorder 3a 25
659 LCT013 Lactase Deficiency, Congenital 25
660 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
661 c TYP032 Type 1 Diabetes Mellitus 6 25
662 c PRX043 Peroxisome Biogenesis Disorder 6b 25
663 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
664 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 25
665 c FML324 Familial Porphyria Cutanea Tarda 24
666 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 24
667 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
668 CMB015 Combined Oxidative Phosphorylation Deficiency 4 24
669 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24
670 c DMN040 Diamond-Blackfan Anemia 16 24
671 c TYP028 Type 1 Diabetes Mellitus 2 24
672 c TYP027 Type 1 Diabetes Mellitus 10 24
673 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 24
674 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 24
675 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
676 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
677 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
678 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
679 c PRX052 Peroxisome Biogenesis Disorder 13a 24
680 c SPS027 Spastic Paraplegia 17 24
681 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 24
682 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
683 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
684 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
685 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24
686 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
687 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
688 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 24
689 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 24
690 c EPL134 Epilepsy, Progressive Myoclonic 7 24
691 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
692 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
693 MRC009 Mercaptolactate-Cysteine Disulfiduria 23
694 c DMN019 Diamond-Blackfan Anemia 4 23
695 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
696 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 23
697 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 23
698 c PRK052 Parkinson Disease 17 23
699 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 23
700 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
701 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 23
702 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
703 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
704 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
705 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
706 c DMN024 Diamond-Blackfan Anemia 7 23
707 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23
708 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 23
709 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
710 MYP149 Myopathy, Mitochondrial, and Ataxia 23
711 c DMN018 Diamond-Blackfan Anemia 5 23
712 c PRX058 Peroxisome Biogenesis Disorder 4b 23
713 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 23
714 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 23
715 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
716 c PRX047 Peroxisome Biogenesis Disorder 5b 23
717 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
718 c NPH073 Nephrotic Syndrome, Type 8 23
719 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 23
720 c PRX062 Peroxisome Biogenesis Disorder 8b 23
721 SDH011 Sedoheptulokinase Deficiency 23
722 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
723 c BRD051 Bardet-Biedl Syndrome 20 23
724 c PRK091 Parkinson Disease 4, Autosomal Dominant 23
725 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
726 c HMC019 Hemochromatosis, Type 2b 23
727 c TYP036 Type 1 Diabetes Mellitus 12 23
728 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
729 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
730 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
731 CPP004 Copper Deficiency Myelopathy 23
732 c TYP038 Type 1 Diabetes Mellitus 15 23
733 CMB045 Combined Oxidative Phosphorylation Deficiency 19 23
734 CMB064 Combined Oxidative Phosphorylation Deficiency 24 23
735 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 23
736 c PRC047 Precocious Puberty, Central, 1 23
737 c GLY001 Glycogen Storage Disease Ix 23
738 c SPS013 Spastic Paraplegia 8 23
739 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 23
740 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
741 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 22
742 c GLY059 Glycogen Storage Disease Xiii 22
743 c PRK070 Parkinson Disease 21 22
744 c SPS020 Spastic Paraplegia 1 22
745 c JVN058 Juvenile-Onset Parkinson's Disease 22
746 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 22
747 HYP690 Hyper-Beta-Alaninemia 22
748 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
749 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 22
750 c PRK008 Parkinson Disease Type 9 22
751 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 22
752 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
753 c NPH074 Nephrotic Syndrome, Type 9 22
754 LPY002 Lipoyltransferase 1 Deficiency 22
755 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
756 c NPH103 Nephrotic Syndrome, Type 15 22
757 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 22
758 c DMN029 Diamond-Blackfan Anemia 11 22
759 c HYP713 Hypermanganesemia with Dystonia 2 22
760 CMB044 Combined Oxidative Phosphorylation Deficiency 14 22
761 c NLX003 Neu-Laxova Syndrome 2 22
762 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 22
763 c NPH095 Nephrotic Syndrome, Type 11 22
764 c DMN006 Diamond-Blackfan Anemia 3 22
765 c DMN005 Diamond-Blackfan Anemia 2 22
766 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
767 c SPS191 Spastic Ataxia 7, Autosomal Dominant 22
768 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
769 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
770 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 22
771 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
772 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 22
773 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
774 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 22
775 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
776 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 22
777 SRN001 Serine Deficiency 22
778 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
779 CMB013 Combined Oxidative Phosphorylation Deficiency 2 22
780 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
781 c ANM034 Anemia, Sideroblastic, 4 22
782 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
783 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 21
784 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 21
785 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
786 CMB065 Combined Oxidative Phosphorylation Deficiency 26 21
787 CMB049 Combined Oxidative Phosphorylation Deficiency 17 21
788 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
789 c PRX066 Peroxisome Biogenesis Disorder 3b 21
790 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
791 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
792 P HYP821 Hypermanganesemia with Dystonia 21
793 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
794 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
795 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 21
796 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
797 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 21
798 c DMN020 Diamond-Blackfan Anemia 8 21
799 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
800 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
801 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 21
802 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 21
803 CMB043 Combined Oxidative Phosphorylation Deficiency 9 21
804 CMB016 Combined Oxidative Phosphorylation Deficiency 5 21
805 ISL116 Isolated Complex Iii Deficiency 21
806 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
807 c SPS037 Spastic Paraplegia 31 21
808 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 21
809 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
810 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
811 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 21
812 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
813 MTH040 Methylmalonyl-Coa Epimerase Deficiency 21
814 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
815 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 20
816 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 20
817 c NPH096 Nephrotic Syndrome, Type 12 20
818 c DMN028 Diamond-Blackfan Anemia 12 20
819 MTC115 Mitochondrial Myopathy, Lethal, Infantile 20
820 P PRX064 Peroxisome Biogenesis Disorder 2b 20
821 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 20
822 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
823 c SPS041 Spastic Paraplegia 6 20
824 c PRC046 Precocious Puberty, Central, 2 20
825 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
826 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
827 CMB077 Combined Oxidative Phosphorylation Deficiency 30 20
828 c PRX089 Peroxisome Biogenesis Disorder 10b 20
829 CMB082 Combined Oxidative Phosphorylation Deficiency 33 20
830 ISL082 Isolated Atp Synthase Deficiency 20
831 CMB048 Combined Oxidative Phosphorylation Deficiency 15 20
832 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
833 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
834 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 19
835 PLY114 Polyglucosan Body Myopathy 2 19
836 c TYP039 Type 1 Diabetes Mellitus 17 19
837 CRT066 Cortisone Reductase Deficiency 2 19
838 c PRX068 Peroxisome Biogenesis Disorder 7b 19
839 c PRM150 Primary Localized Amyloidosis 19
840 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 19
841 c TYP034 Type 1 Diabetes Mellitus 8 19
842 c SPS023 Spastic Paraplegia 13 19
843 CMB071 Combined Oxidative Phosphorylation Deficiency 27 19
844 GLY094 Glycine Encephalopathy with Normal Serum Glycine 19
845 CMB051 Combined Oxidative Phosphorylation Deficiency 21 19
846 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 19
847 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
848 CRT065 Cortisone Reductase Deficiency 1 19
849 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
850 CMB079 Combined Oxidative Phosphorylation Deficiency 29 19
851 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 19
852 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 19
853 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 19
854 c DMN039 Diamond-Blackfan Anemia 17 19
855 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
856 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
857 c PRK083 Parkinson Disease 22, Autosomal Dominant 19
858 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
859 c NPH076 Nephrotic Syndrome, Type 10 19
860 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 19
861 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
862 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
863 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 19
864 CMB052 Combined Oxidative Phosphorylation Deficiency 20 19
865 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 19
866 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
867 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
868 c SPS028 Spastic Paraplegia 18 19
869 c SPS042 Spastic Paraplegia 9 18
870 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
871 c NPH104 Nephrotic Syndrome, Type 16 18
872 c EPL217 Epilepsy, Juvenile Myoclonic 10 18
873 c TYP040 Type 1 Diabetes Mellitus 18 18
874 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 18
875 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
876 c DMN030 Diamond-Blackfan Anemia 13 18
877 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
878 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
879 CRB137 Cerebral Creatine Deficiency Syndrome 18
880 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 18
881 c MYC086 Myoclonic Epilepsy, Juvenile 4 18
882 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 18
883 c SPS034 Spastic Paraplegia 26 18
884 c LRR001 Lrrk2-Related Parkinson Disease 18
885 c NPH093 Nephrotic Syndrome, Type 13 18
886 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 18
887 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 18
888 c SPS032 Spastic Paraplegia 24 18
889 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
890 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 18
891 PRM123 Paramyloidosis 17
892 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
893 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 17
894 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
895 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
896 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
897 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 17
898 c SPS029 Spastic Paraplegia 19 17
899 P ACT241 Acute Bilirubin Encephalopathy 17
900 c SPN121 Spondylocostal Dysostosis 1 17
901 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 17
902 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
903 c SPS033 Spastic Paraplegia 25 17
904 c SPS035 Spastic Paraplegia 29 17
905 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
906 c NPH105 Nephrotic Syndrome, Type 17 17
907 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 17
908 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 17
909 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 17
910 c NPH107 Nephrotic Syndrome, Type 19 17
911 c PRK058 Parkinson Disease 16 17
912 c AHM002 Ah Amyloidosis 17
913 CMB085 Combined Oxidative Phosphorylation Deficiency 35 17
914 c NPH106 Nephrotic Syndrome, Type 18 16
915 ATY025 Atypical Glycine Encephalopathy 16
916 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 16
917 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 16
918 c SPS161 Spastic Paraplegia 32 16
919 c SPS080 Spastic Paraplegia 51 16
920 c GLY093 Glycogen Storage Disease Ixa 16
921 c SPS026 Spastic Paraplegia 16 16
922 c TYP029 Type 1 Diabetes Mellitus 3 16
923 c MYG006 Myoglobinuria, Autosomal Dominant 16
924 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
925 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16
926 c HRD188 Hereditary Spastic Paraplegia 72 16
927 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
928 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
929 c SPS022 Spastic Paraplegia 12 16
930 c LTB003 Ltbp4-Related Cutis Laxa 16
931 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 16
932 c TYP030 Type 1 Diabetes Mellitus 4 16
933 c TYS005 Tay-Sachs Disease, B1 Variant 16
934 c DMN045 Diamond-Blackfan Anemia-Like 16
935 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 16
936 LYS024 Lysosomal and Lipase Deficiency 15
937 PRM138 Pure Mitochondrial Myopathy 15
938 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 15
939 c SPS024 Spastic Paraplegia 14 15
940 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
941 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
942 c SPS038 Spastic Paraplegia 39 15
943 GNT042 Genetic Recurrent Myoglobinuria 15
944 c PRT135 Protoporphyria, Erythropoietic, 2 15
945 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
946 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
947 HYD055 Hydroxylysinuria 15
948 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
949 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 14
950 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 14
951 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 14
952 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 14
953 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 14
954 c EFM001 Efemp2-Related Cutis Laxa 14
955 c DMN047 Diamond-Blackfan Anemia 18 14
956 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
957 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
958 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 14
959 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
960 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 14
961 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 14
962 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
963 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 14
964 P JVN036 Juvenile Sialidosis Type 2 14
965 GNR029 Generalized Galactose Epimerase Deficiency 14
966 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 14
967 c PSD023 Pseudo-Gaucher Disease 14
968 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 14
969 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 13
970 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
971 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
972 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 13
973 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 13
974 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
975 P MTC014 Mitochondrial Dna Deletion Syndromes 13
976 c TFR001 Tfr2-Related Hereditary Hemochromatosis 13
977 PHS019 Phosphohydroxylysinuria 13
978 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 13
979 c SPS040 Spastic Paraplegia 5b 12
980 c PRM209 Primary Trimethylaminuria 12
981 c DMN049 Diamond-Blackfan Anemia 20 12
982 c SPS230 Spastic Paraplegia Type 49 12
983 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
984 c ACQ002 Acquired Night Blindness 12
985 c SPS165 Spastic Paraplegia 47 11
986 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
987 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
988 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 10
989 c SPN122 Spondylocostal Dysostosis 2 10
990 FLN005 Folinic Acid-Responsive Seizures 10
991 c SPS214 Spastic Ataxia 4 10
992 c SPS171 Spastic Ataxia 5 10
993 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 10
994 c VPS003 Vps35-Related Parkinson Disease 10
995 c SPN124 Spondylocostal Dysostosis 4 10
996 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 10
997 c SPN123 Spondylocostal Dysostosis 3 10
998 c SCN039 Secondary Central Precocious Puberty 10
999 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 10
1000 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1001 c INT094 Intermediate Severe Salla Disease 10
1002 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1003 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
1004 c LCT020 Lactic Acidosis, Chronic Adult Form 9
1005 c DMN048 Diamond-Blackfan Anemia 19 9
1006 c SPS163 Spastic Ataxia 3 9
1007 c SPS162 Spastic Ataxia 1 9
1008 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1009 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
1010 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
1011 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
1012 c ACT189 Acute Neonatal Citrullinemia Type I 9
1013 c ADL071 Adult Krabbe Disease 9
1014 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
1015 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 9
1016 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 9
1017 c FBL003 Fbln5-Related Cutis Laxa 8
1018 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1019 c SPS170 Spastic Ataxia 2 8
1020 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
1021 c ADL083 Adult-Onset Citrullinemia Type I 8
1022 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
1023 P TTL001 Total Internal Ophthalmoplegia 8
1024 c ALP056 Alpha-Mannosidosis, Adult Form 8
1025 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1026 c SPS229 Spastic Ataxia 8 8
1027 c SPS172 Spastic Ataxia 7 8
1028 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
1029 c CNG348 Congenital Sialidosis Type 2 7
1030 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
1031 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
1032 TRN049 Transient Tyrosinemia of the Newborn 7
1033 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
1034 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
1035 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
1036 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 7
1037 RNN007 Reunion Island Larsen-Like Syndrome 7
1038 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
1039 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 7
1040 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 6
1041 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 6
1042 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
1043 DBT003 Diabetic Peripheral Angiopathy 6
1044 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1045 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
1046 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 6
1047 c LCT010 Lactic Acidosis Congenital Infantile 5
1048 MTC180 Mitochondrial Dna-Related Dystonia 5
1049 XYL001 Xylt1-Cdg 5
1050 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
1051 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
1052 P SYC001 Say Carpenter Syndrome 5
1053 ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 5
1054 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 4
1055 CRB012 Cerebral Folate Receptor Alpha Deficiency 4
1056 c MYG002 Myoglobinuria Dominant Form 4
1057 ADN058 Adenylosuccinase Lyase Deficiency 3
1058 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
1059 AYZ001 Ayazi Syndrome 9
1060 RCK004 Rickets 66
1061 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65
1062 CMR002 Coumarin Resistance 48
1063 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 45
1064 GRC001 Gracile Syndrome 33
1065 MCR257 Microcephaly, Amish Type 27
1066 OBS050 Obesity Due to Congenital Leptin Deficiency 23
1067 CHL110 Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency 11
1068 P PRD006 Prader-Willi Syndrome 62
1069 KWS001 Kwashiorkor 46
1070 FRC001 Fructose-1,6-Bisphosphatase Deficiency 45
1071 IRN004 Iron-Refractory Iron Deficiency Anemia 42
1072 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
1073 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
1074 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
1075 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
1076 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1077 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1078 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1079 GLC006 Galactosemia 65
1080 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
1081 ADN024 Adenine Phosphoribosyltransferase Deficiency 50
1082 TTR005 Tetrahydrobiopterin Deficiency 33
1083 3HY001 3-Hydroxyisobutyric Aciduria 25
1084 c BRD010 Bardet-Biedl Syndrome 1 58
1085 ALS001 Alstrom Syndrome 55
1086 BTN003 Biotinidase Deficiency 55
1087 APP015 Apparent Mineralocorticoid Excess 54
1088 HLC001 Holocarboxylase Synthetase Deficiency 53
1089 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 53
1090 ISV001 Isovaleric Acidemia 48
1091 ALP077 Alpha-Methylacetoacetic Aciduria 44
1092 P CRB059 Cerebellar Degeneration 40
1093 HYP364 Hyperostosis Frontalis Interna 30
1094 DGL002 D-Glyceric Aciduria 29
1095 c PRM015 Primary Cerebellar Degeneration 27
1096 P PNT006 Pentosuria 24
1097 c SBC039 Subacute Cerebellar Degeneration 22
1098 c ESS007 Essential Pentosuria 18
1099 THP001 Thiopurine S Methyltranferase Deficiency 17
1100 DPL003 Diploid-Triploid Mosaicism 16
1101 NTR002 Nutritional Optic Neuropathy 15
1102 EFV001 Efavirenz, Poor Metabolism of 13
1103 MN1002 Man1b1-Cdg 11
1104 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
1105 c FTT008 Fatty Liver Disease, Nonalcoholic 1 61
1106 c BRD014 Bardet-Biedl Syndrome 2 61
1107 P NNL004 Nonalcoholic Fatty Liver Disease 56
1108 P LDD007 Liddle Syndrome 1 55
1109 CRB045 Cerebellar Hypoplasia 50
1110 c BRD013 Bardet-Biedl Syndrome 12 49
1111 GLY014 Glycerol Kinase Deficiency 47
1112 c BRD016 Bardet-Biedl Syndrome 4 46
1113 SLR001 Sialuria 44
1114 MLT018 Multiple Carboxylase Deficiency 44
1115 IRN008 Iron Overload in Africa 42
1116 c BRD015 Bardet-Biedl Syndrome 3 41
1117 MTH078 Methylmalonic Aciduria, Cblb Type 40
1118 ASP024 Asparagine Synthetase Deficiency 35
1119 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
1120 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
1121 CNG016 Congenital Intrinsic Factor Deficiency 33
1122 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32
1123 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
1124 HWK001 Hawkinsinuria 29
1125 FRC005 Fructosuria, Essential 27
1126 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 26
1127 AMN012 Aminoacidopathies 25
1128 CLR029 Clark-Baraitser Syndrome 23
1129 SCC002 Saccharopinuria 23
1130 c BMN004 Biemond Syndrome Ii 19
1131 P BMN001 Biemond Syndrome 14
1132 c FTT007 Fatty Liver Disease, Nonalcoholic 2 13
1133 c LDD009 Liddle Syndrome 3 13
1134 c LDD008 Liddle Syndrome 2 13
1135 CMR005 Camera-Marugo-Cohen Syndrome 12
1136 TGL001 Tiglic Acidemia 11
1137 MPL011 Maple Syrup Urine Disease, Mild Variant 11
1138 WNS001 Weinstein Kliman Scully Syndrome 4
1139 c BMN003 Biemond Syndrome Type 1 3
1140 ISC004 Ischemia 67
1141 P DBT009 Diabetes Mellitus 67
1142 FTT001 Fatty Liver Disease 66
1143 ETN001 Eating Disorder 65
1144 P CHR071 Charcot-Marie-Tooth Disease 65
1145 c CNG411 Congenital Disorder of Glycosylation, Type in 65
1146 HYP056 Hypoglycemia 64
1147 PRP083 Porphyria, Acute Intermittent 63
1148 GST033 Gestational Diabetes 63
1149 SDD001 Sudden Infant Death Syndrome 63
1150 P MTR004 Maturity-Onset Diabetes of the Young 61
1151 P HYP724 Hyperlipoproteinemia, Type Iii 61
1152 WST001 West Syndrome 60
1153 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
1154 c SPN294 Spinocerebellar Ataxia 1 60
1155 P SPN301 Spinocerebellar Ataxia 2 60
1156 c MCL013 Mucolipidosis Iv 59
1157 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 59
1158 P CTR002 Cataract 58
1159 c PSD108 Pseudohypoparathyroidism, Type Ia 57
1160 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 57
1161 c MCL046 Mucolipidosis Iii Alpha/beta 56
1162 P HYP614 Hyperlipidemia, Familial Combined 56
1163 P HYP014 Hyperuricemia 56
1164 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1165 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 55
1166 CTR172 Citrullinemia, Classic 55
1167 P LMB006 Limb-Girdle Muscular Dystrophy 54
1168 IRN001 Iron Deficiency Anemia 54
1169 MCR004 Macroglobulinemia 54
1170 c SPN291 Spinocerebellar Ataxia 7 53
1171 c CRG004 Crigler-Najjar Syndrome, Type Ii 53
1172 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
1173 LPD009 Lipid Storage Disease 53
1174 HMS001 Hemosiderosis 52
1175 VTM028 Vitamin E, Familial Isolated Deficiency of 52
1176 BTY001 Butyrylcholinesterase Deficiency 52
1177 P SHR001 Short Bowel Syndrome 52
1178 c BRD012 Bardet-Biedl Syndrome 11 52
1179 c HRM005 Hermansky-Pudlak Syndrome 1 51
1180 HYP732 Hyperalphalipoproteinemia 1 51
1181 P HYP818 Hypobetalipoproteinemia, Familial, 1 51
1182 c HRM008 Hermansky-Pudlak Syndrome 5 51
1183 GLC004 Galactokinase Deficiency 51
1184 FSH001 Fish-Eye Disease 51
1185 c HYP740 Hyperlipoproteinemia, Type V 51
1186 P PSD015 Pseudohypoparathyroidism 51
1187 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 51
1188 SPH010 Sphingolipidosis 50
1189 P FML035 Familial Hyperlipidemia 50
1190 c HRM006 Hermansky-Pudlak Syndrome 3 50
1191 MTC020 Mitochondrial Complex Ii Deficiency 50
1192 c SPN314 Spinocerebellar Ataxia 10 50
1193 c SPN309 Spinocerebellar Ataxia 6 50
1194 HYP088 Hyper-Igd Syndrome 49
1195 c SPN293 Spinocerebellar Ataxia 12 49
1196 HMZ003 Homozygous Familial Hypercholesterolemia 49
1197 WRN003 Wernicke Encephalopathy 49
1198 HYP081 Hypolipoproteinemia 49
1199 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1200 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1201 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 48
1202 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
1203 P OCL001 Ocular Albinism 48
1204 HYP017 Hypophosphatemia 48
1205 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 48
1206 DWR001 Dwarfism 48
1207 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
1208 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1209 c SPN296 Spinocerebellar Ataxia 17 47
1210 c HYP739 Hyperlipoproteinemia, Type Iv 47
1211 VTM033 Vitamin K Deficiency Bleeding 47
1212 PRP056 Porphyria, Acute Hepatic 47
1213 P LCT002 Lactose Intolerance 47
1214 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 47
1215 SGW002 Segawa Syndrome, Autosomal Recessive 47
1216 c SPN312 Spinocerebellar Ataxia 14 46
1217 P PSD003 Pseudohypoaldosteronism 46
1218 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 46
1219 GLC106 Glucocorticoid Resistance, Generalized 46
1220 P PLL002 Pellagra 46
1221 c SPN311 Spinocerebellar Ataxia 13 45
1222 c SPN100 Spinocerebellar Ataxia 27 45
1223 c BRD011 Bardet-Biedl Syndrome 10 45
1224 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 44
1225 c TRN032 Transient Neonatal Diabetes Mellitus 44
1226 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 44
1227 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44
1228 c SPN103 Spinocerebellar Ataxia 31 43
1229 c BRD020 Bardet-Biedl Syndrome 8 43
1230 P PNT019 Pontocerebellar Hypoplasia 43
1231 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 43
1232 c HRM009 Hermansky-Pudlak Syndrome 6 43
1233 GLY031 Glycoproteinosis 43
1234 c SPN097 Spinocerebellar Ataxia 23 43
1235 c SPN265 Spinocerebellar Ataxia 36 43
1236 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1237 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 43
1238 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 42
1239 P CNG003 Congenital Dyserythropoietic Anemia 42
1240 c SPN305 Spinocerebellar Ataxia 11 42
1241 c BRT050 Bartter Syndrome, Type 2, Antenatal 42
1242 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 42
1243 P HYP776 Hyperparathyroidism, Neonatal Severe 42
1244 c HYP768 Hyperlipoproteinemia, Type I 42
1245 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
1246 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 42
1247 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1248 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 41
1249 c L2H001 L-2-Hydroxyglutaric Aciduria 41
1250 c SPN283 Spinocerebellar Ataxia 37 41
1251 c CTR130 Cataract 9, Multiple Types 41
1252 PRX005 Peroxisomal Biogenesis Disorder 41
1253 c SPN290 Spinocerebellar Ataxia 15 41
1254 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
1255 c PSD117 Pseudohypoparathyroidism, Type Ic 41
1256 CNZ001 Coenzyme Q10 Deficiency Disease 41
1257 HYP236 Hyperbilirubinemia, Rotor Type 41
1258 c SPN308 Spinocerebellar Ataxia 28 41
1259 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 40
1260 CRB148 Cerebral Creatine Deficiency Syndrome 3 40
1261 c SPN106 Spinocerebellar Ataxia 5 40
1262 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1263 MCP033 Mucopolysaccharidoses 40
1264 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
1265 MTH074 Methionine Adenosyltransferase I/iii Deficiency 40
1266 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 40
1267 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
1268 DHY011 Dihydropyrimidinase Deficiency 40
1269 c BRD018 Bardet-Biedl Syndrome 6 40
1270 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 40
1271 c CTR098 Cataract 1, Multiple Types 40
1272 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
1273 c HYP396 Hypercholesterolemia, Autosomal Recessive 40
1274 c SPN304 Spinocerebellar Ataxia 8 39
1275 PYR016 Pyridoxine Deficiency 39
1276 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 39
1277 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 39
1278 HYP003 Hypermethioninemia 39
1279 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
1280 c HYP290 Hypobetalipoproteinemia, Familial, 2 39
1281 c ALB024 Albinism, Ocular, Type I 39
1282 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 39
1283 c CNG413 Congenital Short Bowel Syndrome 39
1284 SLF014 Sulfite Oxidase Deficiency, Isolated 39
1285 c BRD017 Bardet-Biedl Syndrome 5 39
1286 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
1287 c HRM011 Hermansky-Pudlak Syndrome 8 39
1288 c PNT010 Pontocerebellar Hypoplasia Type 1 39
1289 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 39
1290 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39
1291 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1292 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 38
1293 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 38
1294 BTR002 Beta-Ureidopropionase Deficiency 38
1295 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38
1296 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
1297 EPL131 Epilepsy, Pyridoxine-Dependent 38
1298 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
1299 c CTR115 Cataract 16, Multiple Types 38
1300 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 38
1301 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
1302 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 38
1303 P 2HY001 2-Hydroxyglutaric Aciduria 38
1304 TRN021 Transaldolase Deficiency 38
1305 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
1306 c SPN247 Spinocerebellar Ataxia Type 19/22 37
1307 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1308 c HRM012 Hermansky-Pudlak Syndrome 9 37
1309 c CTR170 Cataract 30, Multiple Types 37
1310 c SPN299 Spinocerebellar Ataxia 20 36
1311 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 36
1312 c SPN094 Spinocerebellar Ataxia 18 36
1313 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 36
1314 c HRM007 Hermansky-Pudlak Syndrome 4 36
1315 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 36
1316 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 36
1317 P ANT061 Antenatal Bartter Syndrome 35
1318 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
1319 NCT003 N-Acetylglutamate Synthase Deficiency 35
1320 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 35
1321 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 35
1322 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 35
1323 P SCH017 Schindler Disease 35
1324 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 35
1325 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 35
1326 P HYP111 Hyperprolinemia 35
1327 KSH001 Keshan Disease 35
1328 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
1329 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1330 KNZ001 Kanzaki Disease 34
1331 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
1332 DSM002 Desmosterolosis 34
1333 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
1334 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
1335 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
1336 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 34
1337 c SPN266 Spinocerebellar Ataxia 35 34
1338 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
1339 c SPN101 Spinocerebellar Ataxia 29 34
1340 c HRM010 Hermansky-Pudlak Syndrome 7 34
1341 c CTR141 Cataract 21, Multiple Types 33
1342 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 33
1343 PPC001 Pepck 1 Deficiency 33
1344 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 33
1345 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
1346 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
1347 c CTR118 Cataract 14, Multiple Types 33
1348 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
1349 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1350 c CTR122 Cataract 5, Multiple Types 33
1351 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 33
1352 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
1353 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 33
1354 c PSD090 Pseudohypoaldosteronism, Type Iia 33
1355 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 32
1356 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 32
1357 c SPN105 Spinocerebellar Ataxia 4 32
1358 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
1359 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
1360 c SPN095 Spinocerebellar Ataxia 19 32
1361 c CTR103 Cataract 4, Multiple Types 32
1362 c SPN383 Spinocerebellar Ataxia 42 32
1363 c CTR145 Cataract 44 32
1364 MTC008 Mitochondrial Complex Iii Deficiency 32
1365 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
1366 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1367 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
1368 c SPN284 Spinocerebellar Ataxia 38 32
1369 P PRK101 Parkinsonism-Dystonia, Infantile, 1 32
1370 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 32
1371 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
1372 c SPN096 Spinocerebellar Ataxia 21 32
1373 c CHR135 Charcot-Marie-Tooth Disease Type 2a 32
1374 c SPN099 Spinocerebellar Ataxia 26 31
1375 c CTR095 Cataract 8, Multiple Types 31
1376 P ALB023 Albinism, Ocular, with Sensorineural Deafness 31
1377 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
1378 c MTC063 Mitochondrial Dna Depletion Syndrome 3 31
1379 c CTR158 Cataract 37 31
1380 c HYP804 Hyperlipidemia, Combined, 1 31
1381 CMB012 Combined Oxidative Phosphorylation Deficiency 1 31
1382 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 31
1383 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 31
1384 P CNG002 Congenital Bile Acid Synthesis Defect 31
1385 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1386 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 31
1387 P FRS004 Free Sialic Acid Storage Disorders 31
1388 PHS023 Phosphoserine Aminotransferase Deficiency 31
1389 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1390 PRX034 Peroxisome Disorders 30
1391 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1392 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
1393 c BRD019 Bardet-Biedl Syndrome 7 30
1394 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 30
1395 24D001 2,4-Dienoyl-Coa Reductase Deficiency 30
1396 c HYP716 Hypermanganesemia with Dystonia 1 30
1397 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
1398 c SPN104 Spinocerebellar Ataxia 34 30
1399 c CTR132 Cataract 3, Multiple Types 30
1400 GLY099 Glycogen Storage Disease Ixa1 30
1401 c CTR125 Cataract 7 30
1402 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
1403 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1404 MTH077 Methylmalonic Aciduria, Cbla Type 30
1405 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 29
1406 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
1407 c CTR096 Cataract 6, Multiple Types 29
1408 c CTR102 Cataract 2, Multiple Types 29
1409 MLD010 Mild Phenylketonuria 29
1410 c HRM020 Hermansky-Pudlak Syndrome 10 29
1411 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 29
1412 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
1413 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 29
1414 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
1415 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 29
1416 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 29
1417 CRT020 Cortisone Reductase Deficiency 29
1418 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1419 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 29
1420 PNC048 Pancreatic Lipase Deficiency 28
1421 c CTR175 Cataract 24 28
1422 LCT017 Lactate Dehydrogenase B Deficiency 28
1423 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1424 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
1425 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
1426 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
1427 MND023 Mend Syndrome 28
1428 c CTR121 Cataract 25 28
1429 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 28
1430 HMC001 Homocarnosinosis 28
1431 c SPN098 Spinocerebellar Ataxia 25 27
1432 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
1433 c HYP248 Hyperprolinemia, Type I 27
1434 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1435 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
1436 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 27
1437 c CTR174 Cataract 40 27
1438 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1439 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
1440 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 27
1441 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 27
1442 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
1443 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
1444 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 27
1445 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 26
1446 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
1447 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
1448 c CTR129 Cataract 31, Multiple Types 26
1449 GLY061 Glycogen Storage Disease 0, Muscle 26
1450 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 26
1451 c SPN372 Spinocerebellar Ataxia 43 26
1452 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
1453 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 26
1454 c BRD021 Bardet-Biedl Syndrome 9 26
1455 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 26
1456 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
1457 c PSD093 Pseudohypoaldosteronism, Type Iid 26
1458 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
1459 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 26
1460 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 26
1461 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
1462 c CTR113 Cataract 11, Multiple Types 26
1463 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1464 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
1465 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 25
1466 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
1467 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
1468 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1469 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
1470 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1471 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 25
1472 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1473 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 25
1474 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
1475 CMB008 Combined Oxidative Phosphorylation Deficiency 25
1476 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
1477 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
1478 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 25
1479 c SPN418 Spinocerebellar Ataxia 44 25
1480 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1481 c CHR026 Charcot-Marie-Tooth Disease Type X 24
1482 c CTR169 Cataract 29 24
1483 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
1484 c SPN286 Spinocerebellar Ataxia 40 24
1485 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 24
1486 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
1487 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1488 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
1489 c SPN421 Spinocerebellar Ataxia 47 24
1490 c LCT011 Lactose Intolerance, Adult Type 24
1491 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
1492 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 24
1493 CMB014 Combined Oxidative Phosphorylation Deficiency 3 24
1494 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 24
1495 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
1496 c HYP597 Hyperprolinemia, Type Ii 23
1497 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1498 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
1499 c SPN323 Spinocerebellar Ataxia 41 23
1500 c CTR166 Cataract 33, Multiple Types 23
1501 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
1502 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
1503 c CTR181 Cataract 18 23
1504 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 23
1505 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 23
1506 c CTR116 Cataract 15, Multiple Types 23
1507 c SPN102 Spinocerebellar Ataxia 30 23
1508 c CTR119 Cataract 32, Multiple Types 23
1509 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
1510 MTC025 Mitochondrial Myopathy with Diabetes 23
1511 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
1512 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
1513 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
1514 c CTR131 Cataract 17, Multiple Types 23
1515 c SPN420 Spinocerebellar Ataxia 46 23
1516 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22
1517 c INT262 Intermediate Maple Syrup Urine Disease 22
1518 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 22
1519 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22
1520 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
1521 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
1522 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1523 TRH001 Trehalase Deficiency 22
1524 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
1525 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
1526 c HYP163 Hyperlipidemia Type 3 22
1527 c CTR180 Cataract 22, Multiple Types 22
1528 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
1529 c CTR162 Cataract 47 22
1530 c CTR124 Cataract 10, Multiple Types 22
1531 c CTR165 Cataract 19, Multiple Types 22
1532 c CTR184 Cataract 39, Multiple Types 22
1533 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1534 HYP279 Hypercholanemia, Familial 22
1535 c CHR682 Chronic Bilirubin Encephalopathy 22
1536 c SPN259 Spinocerebellar Ataxia 32 22
1537 c SPN419 Spinocerebellar Ataxia 45 22
1538 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 22
1539 c SPN427 Spinocerebellar Ataxia 48 22
1540 CMB019 Combined Oxidative Phosphorylation Deficiency 8 21
1541 c PRK102 Parkinsonism-Dystonia, Infantile, 2 21
1542 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1543 CMB025 Combined Oxidative Phosphorylation Deficiency 10 21
1544 c CTR105 Cataract 12, Multiple Types 21
1545 MTC037 Mitochondrial Phosphate Carrier Deficiency 21
1546 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 21
1547 CRN042 Carnosinemia 21
1548 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
1549 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21
1550 CMB041 Combined Oxidative Phosphorylation Deficiency 13 21
1551 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1552 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 21
1553 URC006 Urocanase Deficiency 21
1554 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 21
1555 c CTR159 Cataract 35 20
1556 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 20
1557 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
1558 c CTR182 Cataract 23, Multiple Types 20
1559 c CTR183 Cataract 38 20
1560 c CTR163 Cataract 46, Juvenile-Onset 20
1561 VRR003 Verruciform Xanthoma of Skin 20
1562 c CTR097 Cataract 34, Multiple Types 20
1563 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 20
1564 c CTR111 Cataract 36 20
1565 CMB072 Combined Oxidative Phosphorylation Deficiency 28 20
1566 c CTR136 Cataract 41 20
1567 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
1568 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 20
1569 c SPN107 Spinocerebellar Ataxia 9 20
1570 TRN067 Transcobalamin I Deficiency 19
1571 LGH013 Leigh Syndrome with Cardiomyopathy 19
1572 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 19
1573 BRK013 Birk-Landau-Perez Syndrome 19
1574 c HYP819 Hyperlipoproteinemia, Type Id 19
1575 CRD192 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 19
1576 c PLL014 Pellagra-Like Syndrome 19
1577 c CTR139 Cataract 42 19
1578 c CTR110 Cataract 26, Multiple Types 19
1579 c TRN053 Transient Pseudohypoaldosteronism 19
1580 c PSD068 Pseudohypoaldosteronism, Type Iic 19
1581 CRD158 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 19
1582 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1583 c PSD094 Pseudohypoaldosteronism, Type Iib 18
1584 c HRD048 Hereditary Hyperuricemia 18
1585 c CTR157 Cataract 28 18
1586 c CTR106 Cataract 20, Multiple Types 18
1587 c HYP302 Hypomagnesemia 4, Renal 18
1588 c CTR144 Cataract 43 18
1589 HYD031 Hydroxyprolinemia 18
1590 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
1591 CRB155 Carbonic Anhydrase Va Deficiency 18
1592 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 18
1593 c CTR185 Cataract 30 18
1594 c CTR160 Cataract 45 18
1595 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
1596 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
1597 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 18
1598 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 18
1599 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1600 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 17
1601 c CTR178 Cataract 27 17
1602 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1603 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 17
1604 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1605 BTM003 Beta-Aminoisobutyric Aciduria 17
1606 ZNC006 Zinc, Elevated Plasma 17
1607 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 17
1608 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1609 c HYP831 Hyperparathyroidism, Transient Neonatal 17
1610 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 16
1611 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
1612 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 16
1613 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
1614 CRD193 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 16
1615 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 16
1616 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
1617 VLN001 Valinemia 16
1618 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 15
1619 INT043 Intestinal Disaccharidase Deficiency 15
1620 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
1621 c INF047 Infantile Free Sialic Acid Storage Disease 15
1622 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1623 DBS003 Dibasic Amino Aciduria I 14
1624 c CTR128 Cataract 33 14
1625 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1626 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 14
1627 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
1628 c CTR025 Cataract, Total Congenital 14
1629 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
1630 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1631 LGH017 Leigh Syndrome with Nephrotic Syndrome 14
1632 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
1633 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1634 c CHR571 Charcot-Marie-Tooth Disease Type 5 12
1635 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1636 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
1637 c HYP333 Hyperlipidemia, Combined, 2 11
1638 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 11
1639 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 11
1640 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
1641 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
1642 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
1643 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
1644 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1645 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
1646 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
1647 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 9
1648 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1649 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
1650 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
1651 c CTR008 Cataract Congenital Autosomal Dominant 7
1652 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1653 c SCN046 Secondary Short Bowel Syndrome 6
1654 INF171 Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1655 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
1656 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
1657 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 56
1658 MHM001 Mehmo Syndrome 33
1659 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
1660 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 47
1661 P GLT035 Glutaric Acidemia I 47
1662 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26
1663 c GLT029 Glutaric Acidemia Type Iii 18
1664 CRN295 Carnitine Palmitoyltransferase I Deficiency 54
1665 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54
1666 P TRC086 Trichohepatoenteric Syndrome 1 61
1667 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
1668 P MNN019 Mannosidosis, Beta a, Lysosomal 47
1669 HST006 Histidinemia 45
1670 c TRC078 Trichohepatoenteric Syndrome 2 35
1671 MTC026 Mitochondrial Myopathy with Lactic Acidosis 26
1672 P PLY011 Polycystic Ovary Syndrome 64
1673 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 61
1674 FRC011 Fructose Intolerance, Hereditary 60
1675 GLY010 Glycine Encephalopathy 57
1676 c PSD066 Pseudohypoparathyroidism, Type Ib 54
1677 CRN239 Carnitine Deficiency, Systemic Primary 54
1678 CHY002 Chylomicron Retention Disease 53
1679 LYS003 Lysinuric Protein Intolerance 52
1680 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 52
1681 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 49
1682 ULN003 Ulnar-Mammary Syndrome 49
1683 GLC011 Galactose Epimerase Deficiency 48
1684 ENC055 Encephalopathy, Ethylmalonic 47
1685 ADP001 Adiposis Dolorosa 47
1686 c MGL018 Megaloblastic Anemia 1 46
1687 c PLY105 Polycystic Ovary Syndrome 1 43
1688 ADN022 Adenylosuccinase Deficiency 41
1689 P MNT319 Mental Retardation, Autosomal Dominant 20 39
1690 c MNT143 Mental Retardation, Autosomal Dominant 13 38
1691 P HYP769 Hyperlysinemia, Type I 36
1692 INT088 Intrinsic Factor Deficiency 36
1693 FMR004 Fumarase Deficiency 35
1694 P HYP658 Hypoplastic Amelogenesis Imperfecta 33
1695 LGH003 Leigh Syndrome, French Canadian Type 29
1696 c MNT185 Mental Retardation, Autosomal Dominant 7 29
1697 c MNT246 Mental Retardation, Autosomal Dominant 38 27
1698 c MNT212 Mental Retardation, Autosomal Dominant 26 27
1699 c MNT241 Mental Retardation, Autosomal Dominant 32 26
1700 c MNT219 Mental Retardation, Autosomal Dominant 30 26
1701 c MNT210 Mental Retardation, Autosomal Recessive 42 26
1702 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1703 c MNT145 Mental Retardation, Autosomal Recessive 5 25
1704 c MNT157 Mental Retardation, Autosomal Dominant 18 25
1705 c MNT270 Mental Retardation, Autosomal Recessive 53 25
1706 c MNT280 Mental Retardation, Autosomal Dominant 43 25
1707 c MNT322 Mental Retardation, Autosomal Dominant 27 25
1708 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 25
1709 c MNT214 Mental Retardation, Autosomal Dominant 24 25
1710 c MNT166 Mental Retardation, Autosomal Recessive 39 25
1711 c MNT287 Mental Retardation, Autosomal Recessive 57 25
1712 c MNT155 Mental Retardation, Autosomal Recessive 2 25
1713 c MNT325 Mental Retardation, Autosomal Recessive 61 24
1714 c MNT213 Mental Retardation, Autosomal Recessive 40 24
1715 c MNT222 Mental Retardation, Autosomal Dominant 29 24
1716 c MNT183 Mental Retardation, Autosomal Recessive 36 24
1717 c MNT262 Mental Retardation, Autosomal Dominant 42 24
1718 c MNT328 Mental Retardation, Autosomal Dominant 52 24
1719 c MNT244 Mental Retardation, Autosomal Recessive 49 24
1720 c MNT150 Mental Retardation, Autosomal Recessive 15 23
1721 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1722 c MNT239 Mental Retardation, Autosomal Dominant 35 23
1723 c MNT238 Mental Retardation, Autosomal Dominant 34 23
1724 c MNT216 Mental Retardation, Autosomal Recessive 41 23
1725 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1726 c MNT226 Mental Retardation, Autosomal Dominant 31 23
1727 c MNT272 Mental Retardation, Autosomal Dominant 41 23
1728 c MNT273 Mental Retardation, Autosomal Dominant 44 23
1729 c MNT184 Mental Retardation, Autosomal Dominant 11 23
1730 c MNT321 Mental Retardation, Autosomal Recessive 37 23
1731 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 23
1732 c MNT186 Mental Retardation, Autosomal Dominant 10 23
1733 c MNT282 Mental Retardation, Autosomal Recessive 55 22
1734 c MNT324 Mental Retardation, Autosomal Dominant 49 22
1735 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1736 c MNT211 Mental Retardation, Autosomal Dominant 23 22
1737 c MNT179 Mental Retardation, Autosomal Dominant 21 22
1738 c MNT245 Mental Retardation, Autosomal Dominant 36 22
1739 c MNT177 Mental Retardation, Autosomal Recessive 27 22
1740 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1741 c MNT236 Mental Retardation, Autosomal Dominant 39 22
1742 c MNT323 Mental Retardation, Autosomal Dominant 48 21
1743 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1744 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1745 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1746 c MNT234 Mental Retardation, Autosomal Recessive 48 21
1747 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1748 c MNT286 Mental Retardation, Autosomal Dominant 45 20
1749 c MNT329 Mental Retardation, Autosomal Dominant 53 20
1750 c MNT337 Mental Retardation, Autosomal Dominant 58 20
1751 c MNT279 Mental Retardation, Autosomal Dominant 47 20
1752 c MNT330 Mental Retardation, Autosomal Dominant 54 20
1753 c MNT154 Mental Retardation, Autosomal Recessive 14 20
1754 c MNT327 Mental Retardation, Autosomal Dominant 51 20
1755 c MNT162 Mental Retardation, Autosomal Recessive 24 20
1756 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1757 c MNT215 Mental Retardation, Autosomal Recessive 43 20
1758 c MNT336 Mental Retardation, Autosomal Recessive 64 20
1759 c MNT339 Mental Retardation, Autosomal Recessive 66 20
1760 c MNT225 Mental Retardation, Autosomal Recessive 47 20
1761 c MNT326 Mental Retardation, Autosomal Dominant 50 20
1762 c MNT332 Mental Retardation, Autosomal Dominant 56 20
1763 c MNT172 Mental Retardation, Autosomal Recessive 25 19
1764 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 19
1765 c MNT263 Mental Retardation, Autosomal Recessive 51 19
1766 c MNT165 Mental Retardation, Autosomal Recessive 28 19
1767 c MNT278 Mental Retardation, Autosomal Dominant 46 19
1768 c MNT151 Mental Retardation, Autosomal Recessive 18 19
1769 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1770 c MNT182 Mental Retardation, Autosomal Recessive 19 19
1771 c MNT334 Mental Retardation, Autosomal Dominant 57 19
1772 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1773 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1774 c MNT170 Mental Retardation, Autosomal Recessive 23 18
1775 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1776 c MNT335 Mental Retardation, Autosomal Recessive 63 18
1777 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1778 c MNT281 Mental Retardation, Autosomal Recessive 59 18
1779 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1780 c MNT161 Mental Retardation, Autosomal Recessive 29 18
1781 c MNT338 Mental Retardation, Autosomal Recessive 65 18
1782 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1783 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1784 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
1785 c ATS394 Autosomal Dominant Mental Retardation 55 9
1786 STR067 Stroke, Ischemic 84
1787 P LVR013 Liver Disease 77
1788 LPD012 Lipoid Congenital Adrenal Hyperplasia 72
1789 SCH036 Scheie Syndrome 67
1790 LGH007 Leigh Syndrome 66
1791 P HYP086 Hypothyroidism 66
1792 SND001 Sandhoff Disease 66
1793 CYS013 Cystinuria 65
1794 P GLL020 Gallbladder Disease 64
1795 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
1796 c CNG006 Congenital Hypothyroidism 64
1797 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
1798 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
1799 PRP001 Propionic Acidemia 61
1800 DBT083 Diabetes Mellitus, Permanent Neonatal 61
1801 NRM019 Neuraminidase Deficiency 61
1802 P HYP370 Hypokalemic Periodic Paralysis, Type 1 61
1803 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 61
1804 P MLG056 Malignant Hyperthermia 60
1805 P FCS002 Fucosidosis 60
1806 LNN001 Lennox-Gastaut Syndrome 60
1807 GST037 Gastroparesis 59
1808 PYR041 Pyruvate Kinase Deficiency of Red Cells 59
1809 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58
1810 P ERY058 Erythrocytosis, Familial, 1 58
1811 DBN001 Dubin-Johnson Syndrome 58
1812 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
1813 DBF001 D-Bifunctional Protein Deficiency 56
1814 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
1815 HYP052 Hyperkalemic Periodic Paralysis 55
1816 CNV004 Canavan Disease 55
1817 c PTT057 Pituitary Adenoma 4, Acth-Secreting 55
1818 PPL049 Papillon-Lefevre Syndrome 55
1819 MTC027 Mitochondrial Trifunctional Protein Deficiency 55
1820 CYS010 Cystinosis 55
1821 P BRT004 Bartter Disease 54
1822 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54
1823 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 54
1824 CLC001 Calciphylaxis 53
1825 c ACT134 Acute Liver Failure 53
1826 P SLL003 Salla Disease 53
1827 RNL051 Renal Cysts and Diabetes Syndrome 53
1828 FML026 Familial Lipoprotein Lipase Deficiency 53
1829 HMC014 Homocysteinemia 52
1830 P ACT010 Acth-Secreting Pituitary Adenoma 52
1831 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 52
1832 P FML012 Familial Partial Lipodystrophy 52
1833 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 52
1834 c HRM017 Hermansky-Pudlak Syndrome 2 52
1835 CYS036 Cystinosis, Nephropathic 51
1836 GYR004 Gyrate Atrophy of Choroid and Retina 51
1837 NPH003 Nephrocalcinosis 51
1838 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 51
1839 c ALB020 Albinism, Oculocutaneous, Type Iii 50
1840 c LPD021 Lipodystrophy, Familial Partial, Type 3 50
1841 OCC006 Occipital Horn Syndrome 50
1842 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 50
1843 c DWL002 Dowling-Degos Disease 1 50
1844 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1845 HYP781 Hypoascorbemia 49
1846 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1847 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 49
1848 P NRD007 Neurodegeneration with Brain Iron Accumulation 49
1849 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
1850 c ERY048 Erythrocytosis, Familial, 2 48
1851 PYC001 Pycnodysostosis 48
1852 c INF145 Infantile Liver Failure Syndrome 1 48
1853 ALB002 Albinism 48
1854 c EXS019 Exostoses, Multiple, Type I 48
1855 P D2H002 D-2-Hydroxyglutaric Aciduria 1 48
1856 HPT025 Hepatic Lipase Deficiency 47
1857 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
1858 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 47
1859 P MTH008 Methylmalonic Acidemia 47
1860 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
1861 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 47
1862 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
1863 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
1864 FML036 Familial Periodic Paralysis 46
1865 CRB150 Cerebral Creatine Deficiency Syndrome 2 46
1866 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 46
1867 P KLF001 Kleefstra Syndrome 46
1868 P HRD001 Hereditary Multiple Exostoses 45
1869 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
1870 c GLL024 Gallbladder Disease 1 45
1871 P DWL001 Dowling-Degos Disease 45
1872 DPM001 Dopamine Beta-Hydroxylase Deficiency 45
1873 c LPD019 Lipodystrophy, Partial, Acquired 45
1874 P PLM085 Pulmonary Hemosiderosis 45
1875 P RNL045 Renal Tubular Acidosis, Distal 45
1876 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 44
1877 c BRT042 Bartter Syndrome, Type 3 44
1878 GLC022 Glucose/galactose Malabsorption 44
1879 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 44
1880 IMN001 Iminoglycinuria 44
1881 P CNG436 Congenital Disorder of Deglycosylation 44
1882 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 44
1883 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1884 BRB001 Beriberi 43
1885 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
1886 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
1887 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
1888 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 42
1889 GLY015 Glycine N-Methyltransferase Deficiency 42
1890 CYS019 Cystathioninuria 42
1891 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1892 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 40
1893 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 39
1894 CRD170 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 39
1895 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 39
1896 MLY001 Molybdenum Cofactor Deficiency 39
1897 c MLG147 Malignant Hyperthermia 1 39
1898 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 39
1899 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1900 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1901 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 38
1902 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 38
1903 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 38
1904 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 38
1905 HMC038 Hemochromatosis, Neonatal 38
1906 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38
1907 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 38
1908 APL017 Apolipoprotein C-Ii Deficiency 38
1909 c HYP534 Hypomagnesemia 3, Renal 37
1910 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 37
1911 ACT209 Acatalasemia 37
1912 DCR008 Dicarboxylic Aminoaciduria 37
1913 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
1914 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
1915 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 36
1916 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 36
1917 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1918 SCR037 Sucrase-Isomaltase Deficiency, Congenital 36
1919 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 36
1920 c CNT101 Central Congenital Hypothyroidism 36
1921 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 35
1922 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 35
1923 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 35
1924 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 35
1925 P PRR025 Perrault Syndrome 34
1926 WRN004 Wrinkly Skin Syndrome 34
1927 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1928 P HYP210 Hypomagnesemia 2, Renal 34
1929 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 33
1930 LTH002 Lathosterolosis 33
1931 c KLF004 Kleefstra Syndrome 1 33
1932 c SCH069 Schindler Disease, Type I 33
1933 c PRR020 Perrault Syndrome 1 33
1934 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
1935 HMM002 Haim-Munk Syndrome 32
1936 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 31
1937 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 31
1938 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 30
1939 CKS001 Ck Syndrome 30
1940 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1941 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
1942 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
1943 GLY058 Glycogen Storage Disease 0, Liver 29
1944 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
1945 c EXS020 Exostoses, Multiple, Type Ii 29
1946 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 29
1947 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
1948 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
1949 NST002 Nestor-Guillermo Progeria Syndrome 29
1950 SCH030 Schneckenbecken Dysplasia 29
1951 IMM080 Immunodeficiency 23 29
1952 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 29
1953 CMB026 Combined Oxidative Phosphorylation Deficiency 12 28
1954 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
1955 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 27
1956 c LVR030 Liver Failure, Infantile, Transient 27
1957 DFN350 Deafness, Aminoglycoside-Induced 27
1958 CMB011 Combined Malonic and Methylmalonic Aciduria 27
1959 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 27
1960 HYD030 Hydroxykynureninuria 26
1961 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 26
1962 c ERY065 Erythrocytosis, Familial, 7 26
1963 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
1964 5XP001 5-Oxoprolinase Deficiency 26
1965 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
1966 c PRR026 Perrault Syndrome 5 26
1967 CRD231 Cardiomyopathy, Infantile Histiocytoid 26
1968 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
1969 GLT011 Glutamine Deficiency, Congenital 26
1970 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1971 c GLL027 Gallbladder Disease 4 25
1972 GBM001 Gaba Aminotransferase Deficiency 25
1973 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1974 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 24
1975 c SPS208 Spastic Ataxia 4, Autosomal Recessive 24
1976 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
1977 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 24
1978 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1979 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 24
1980 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
1981 CYS045 Cystinosis, Adult Nonnephropathic 24
1982 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1983 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 24
1984 ART103 Arthrogryposis, Mental Retardation, and Seizures 24
1985 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
1986 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 23
1987 GLT014 Glutathionuria 23
1988 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1989 c PRR024 Perrault Syndrome 3 22
1990 c MLG148 Malignant Hyperthermia 2 22
1991 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 22
1992 c MLG149 Malignant Hyperthermia 3 22
1993 c ATP003 Atp6v0a2-Related Cutis Laxa 21
1994 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
1995 c ERY067 Erythrocytosis, Familial, 8 21
1996 c INF138 Infantile Liver Failure Syndrome 2 21
1997 HYP187 Hypertryptophanemia 21
1998 c PRR021 Perrault Syndrome 4 21
1999 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
2000 c BRT024 Bartter Syndrome Type 4 21
2001 HRL006 Harel-Yoon Syndrome 21
2002 c XLN229 X-Linked Chondrodysplasia Punctata 2 21
2003 c MLG150 Malignant Hyperthermia 4 21
2004 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 20
2005 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 20
2006 c MLG151 Malignant Hyperthermia 5 20
2007 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
2008 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 20
2009 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 19
2010 CPP001 Copper Deficiency, Familial Benign 19
2011 c HYP445 Hypomagnesemia 6, Renal 19
2012 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
2013 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 19
2014 c D2H003 D-2-Hydroxyglutaric Aciduria 2 19
2015 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
2016 c PRR022 Perrault Syndrome 2 18
2017 c ERY031 Erythrocytosis, Familial, 3 18
2018 c PRR033 Perrault Syndrome 6 18
2019 c KLF005 Kleefstra Syndrome 2 17
2020 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 17
2021 c EXS021 Exostoses, Multiple, Type Iii 17
2022 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 17
2023 c DWL003 Dowling-Degos Disease 2 17
2024 c ERY032 Erythrocytosis, Familial, 4 17
2025 c MLG152 Malignant Hyperthermia 6 16
2026 c ERY063 Erythrocytosis, Familial, 5 16
2027 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
2028 c DWL004 Dowling-Degos Disease 4 15
2029 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
2030 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
2031 c DWL005 Dowling-Degos Disease 3 13
2032 c KLF002 Kleefstra Syndrome Due to a Point Mutation 13
2033 c ERY064 Erythrocytosis, Familial, 6 12
2034 c GLL025 Gallbladder Disease 2 12
2035 c GLL026 Gallbladder Disease 3 12
2036 c SCN047 Secondary Pulmonary Hemosiderosis 9
2037 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 9
2038 c RNL048 Renal Tubular Acidosis, Distal, Type 3 9
2039 c FCS008 Fucosidosis Type 1 9
2040 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
2041 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
2042 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
2043 c RNL049 Renal Tubular Acidosis, Distal, Type 4 4
2044 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
2045 CNN003 Conn's Syndrome 73
2046 ACR006 Aceruloplasminemia 72
2047 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 60
2048 ALK013 Alkaptonuria 58
2049 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 53
2050 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
2051 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
2052 AMN007 Aminoacylase 1 Deficiency 36
2053 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
2054 BLD065 Blue Diaper Syndrome 19
2055 P HYP607 Hypercholesterolemia, Familial 82
2056 WLS001 Wilson Disease 71
2057 P MTC003 Metachromatic Leukodystrophy 71
2058 ABT001 Abetalipoproteinemia 67
2059 P CRN037 Craniosynostosis 66
2060 MNK001 Menkes Disease 65
2061 P LBR001 Leber Congenital Amaurosis 64
2062 HYP020 Hyperprolactinemia 64
2063 P HRM001 Hermansky-Pudlak Syndrome 64
2064 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
2065 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
2066 WLK001 Walker-Warburg Syndrome 60
2067 HYP190 Hypoalphalipoproteinemia, Primary 59
2068 GLB001 Gilbert Syndrome 59
2069 LBR002 Leber Hereditary Optic Neuropathy 58
2070 c NMN013 Niemann-Pick Disease, Type a 58
2071 MVL001 Mevalonic Aciduria 57
2072 P HYP097 Hyperekplexia 57
2073 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
2074 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2075 PSD014 Pseudopseudohypoparathyroidism 56
2076 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55
2077 c LBR014 Leber Congenital Amaurosis 4 55
2078 ALB001 Albright's Hereditary Osteodystrophy 55
2079 c ALB009 Albinism, Oculocutaneous, Type Ia 54
2080 c OPT053 Optic Atrophy 1 54
2081 RNL024 Renal Glucosuria 54
2082 PRN001 Purine Nucleoside Phosphorylase Deficiency 53
2083 WRN002 Wernicke-Korsakoff Syndrome 53
2084 c ALB021 Albinism, Oculocutaneous, Type Ii 53
2085 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
2086 ARG007 Argininemia 52
2087 P AMY084 Amyloidosis, Finnish Type 52
2088 P HMC002 Homocystinuria 51
2089 P FML068 Familial Hypocalciuric Hypercalcemia 50
2090 DRR016 Diarrhea 2, with Microvillus Atrophy 49
2091 SBL008 Sea-Blue Histiocyte Disease 49
2092 CRB151 Cerebral Creatine Deficiency Syndrome 1 49
2093 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48
2094 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 48
2095 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
2096 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 47
2097 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
2098 BRN045 Brunner Syndrome 46
2099 GLT007 Glutathione Synthetase Deficiency 46
2100 c ALB010 Albinism, Oculocutaneous, Type Ib 45
2101 MSC077 Muscle Eye Brain Disease 45
2102 c LBR004 Leber Congenital Amaurosis 1 44
2103 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 44
2104 c CRN278 Craniosynostosis 1 44
2105 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
2106 PRL019 Prolidase Deficiency 44
2107 P PRM001 Primary Cutaneous Amyloidosis 44
2108 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 43
2109 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
2110 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
2111 PYR037 Pyruvate Carboxylase Deficiency 40
2112 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 40
2113 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 40
2114 c LBR019 Leber Congenital Amaurosis 9 40
2115 PRM237 Primary Hypomagnesemia 39
2116 P CTR177 Citrullinemia, Type Ii, Adult-Onset 38
2117 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 38
2118 c LBR012 Leber Congenital Amaurosis 2 37
2119 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
2120 GCH018 Gaucher Disease, Perinatal Lethal 37
2121 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
2122 c LBR007 Leber Congenital Amaurosis 12 35
2123 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
2124 PLV001 Pelvic Lipomatosis 35
2125 c LBR011 Leber Congenital Amaurosis 16 34
2126 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
2127 BJR001 Bjornstad Syndrome 34
2128 INF129 Infantile Cerebellar-Retinal Degeneration 33
2129 c LBR005 Leber Congenital Amaurosis 10 33
2130 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
2131 c LBR018 Leber Congenital Amaurosis 8 31
2132 c LBR016 Leber Congenital Amaurosis 6 31
2133 c LBR013 Leber Congenital Amaurosis 3 30
2134 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 30
2135 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
2136 c HYP699 Hyperekplexia 1 29
2137 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
2138 c CRN277 Craniosynostosis 2 28
2139 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 28
2140 c LBR015 Leber Congenital Amaurosis 5 27
2141 c LBR009 Leber Congenital Amaurosis 14 27
2142 c CRN281 Craniosynostosis 7 26
2143 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 26
2144 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
2145 c CRN217 Craniosynostosis 3 25
2146 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 25
2147 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 25
2148 c LBR008 Leber Congenital Amaurosis 13 24
2149 c OPT064 Optic Atrophy 11 24
2150 c FML249 Familial Amyloidosis, Finnish Type 24
2151 c OPT065 Optic Atrophy 9 24
2152 c OPT024 Optic Atrophy 5 23
2153 c LBR010 Leber Congenital Amaurosis 15 23
2154 c CRN221 Craniosynostosis 4 23
2155 c CRN216 Craniosynostosis 5 23
2156 c OPT023 Optic Atrophy 2 22
2157 c OPT025 Optic Atrophy 6 22
2158 c LBR029 Leber Congenital Amaurosis 17 22
2159 c CRN256 Craniosynostosis 6 21
2160 P PRM016 Primary Optic Atrophy 21
2161 c OPT060 Optic Atrophy 8 20
2162 GRW003 Growth Hormone Insensitivity with Immunodeficiency 20
2163 c HYP510 Hyperekplexia 2 20
2164 c LBR006 Leber Congenital Amaurosis 11 19
2165 c HYP825 Hyperekplexia 4 19
2166 c LBR017 Leber Congenital Amaurosis 7 19
2167 c HYP519 Hyperekplexia 3 18
2168 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
2169 c OPT059 Optic Atrophy 4 16
2170 c SPR097 Sporadic Hyperekplexia 13
2171 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
2172 c CRN093 Craniosynostosis Autosomal Dominant 6
2173 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 3
2174 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 3
2175 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
2176 P PRP003 Porphyria Cutanea Tarda 67
2177 CHD001 Chediak-Higashi Syndrome 67
2178 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
2179 LPD016 Lipoid Proteinosis of Urbach and Wiethe 67
2180 P SPN046 Spinal Muscular Atrophy 65
2181 P MPL001 Maple Syrup Urine Disease 64
2182 KRN002 Kearns-Sayre Syndrome 63
2183 MYC079 Myoclonic Epilepsy of Lafora 60
2184 P CRG003 Crigler-Najjar Syndrome, Type I 60
2185 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
2186 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 57
2187 FNC009 Fanconi-Bickel Syndrome 54
2188 c SPN393 Spinal Muscular Atrophy, Type I 53
2189 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
2190 P SJG002 Sjogren-Larsson Syndrome 52
2191 ATR002 Atransferrinemia 51
2192 AMY082 Amyloidosis, Familial Visceral 47
2193 c SPN394 Spinal Muscular Atrophy, Type Iii 47
2194 c SPN395 Spinal Muscular Atrophy, Type Ii 46
2195 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 42
2196 c JVN006 Juvenile Spinal Muscular Atrophy 40
2197 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
2198 c SPN398 Spinal Muscular Atrophy, Type Iv 36
2199 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
2200 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
2201 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
2202 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
2203 TMT002 Temtamy Preaxial Brachydactyly Syndrome 31
2204 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
2205 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
2206 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
2207 c SJG003 Sjogren-Larsson-Like Syndrome 6
2208 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
2209 VSC044 Visceral Myopathy 52
2210 c TYR012 Tyrosinemia, Type I 56
2211 ARM001 Aromatase Deficiency 52
2212 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
2213 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39
2214 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
2215 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
2216 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
2217 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
2218 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
2219 KRT002 Keratomalacia 51
2220 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21



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