Metabolic Diseases Category (2150 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 78
2 c BDY007 Body Mass Index Quantitative Trait Locus 1 47
3 c BDY013 Body Mass Index Quantitative Trait Locus 5 12
4 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
5 c BDY008 Body Mass Index Quantitative Trait Locus 2 11
6 c BDY014 Body Mass Index Quantitative Trait Locus 6 11
7 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
8 c BDY018 Body Mass Index Quantitative Trait Locus 15 10
9 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 45
10 c INH020 Inherited Metabolic Disorder 53
11 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62
12 CRB025 Carbohydrate Metabolic Disorder 42
13 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 14
14 NTR005 Nutritional Deficiency Disease 58
15 LPD008 Lipid Metabolism Disorder 64
16 LPT006 Leptin Receptor Deficiency 43
17 MMS001 Momo Syndrome 30
18 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
19 P DRG021 Drug Metabolism, Poor, Cyp2c19-Related 27
20 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 13
21 AMN002 Amino Acid Metabolic Disorder 42
22 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 26
23 LPT014 Leptin Deficiency or Dysfunction 40
24 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
25 HYD021 Hydrocephalus Obesity Hypogonadism 17
26 CHN016 Cohen Syndrome 54
27 P THP004 Thiopurines, Poor Metabolism of, 1 41
28 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 33
29 CNG376 Congenital Leptin Deficiency 29
30 c BDY020 Body Mass Index Quantitative Trait Locus 19 41
31 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
32 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 5
33 MRB003 Morbid Obesity 61
34 URC002 Urea Cycle Disorder 49
35 c BDY019 Body Mass Index Quantitative Trait Locus 18 42
36 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
37 PHS001 Phosphorus Metabolism Disease 37
38 c BDY005 Body Mass Index Quantitative Trait Locus 9 33
39 c BDY015 Body Mass Index Quantitative Trait Locus 12 32
40 c BDY010 Body Mass Index Quantitative Trait Locus 4 31
41 c BDY006 Body Mass Index Quantitative Trait Locus 8 31
42 c BDY012 Body Mass Index Quantitative Trait Locus 7 31
43 INB001 Inborn Amino Acid Metabolism Disorder 8
44 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 31
45 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 31
46 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 28
47 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 22
48 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 22
49 MNR003 Mineral Metabolism Disease 39
50 SRF006 Surfactant Dysfunction 37
51 MTL002 Metal Metabolism Disorder 31
52 PRP098 Proprotein Convertase 1/3 Deficiency 29
53 PYR035 Pyrimidine Metabolic Disorder 26
54 THY064 Thyroid Hormone Metabolism, Abnormal 23
55 MRB006 Morbid Obesity and Spermatogenic Failure 20
56 IRN002 Iron Metabolism Disease 60
57 GLC008 Glucose Metabolism Disease 48
58 CHP002 Chops Syndrome 33
59 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
60 OBS037 Obesity-Hypoventilation Syndrome 51
61 MTB004 Metabolic Acidosis 49
62 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 46
63 ORG002 Organic Acidemia 39
64 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 29
65 RHH001 Rohhad 24
66 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 23
67 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
68 MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 52
69 MTC005 Mitochondrial Metabolism Disease 45
70 MTH021 Methylmalonic Acidemia with Homocystinuria 40
71 STR018 Steroid Inherited Metabolic Disorder 30
72 PRN024 Purine-Pyrimidine Metabolic Disorder 24
73 HST007 Histidine Metabolism Disease 23
74 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 21
75 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 20
76 RTN173 Retinal Dystrophy and Obesity 19
77 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
78 CLP006 Clopidogrel Resistance 45
79 KWS001 Kwashiorkor 45
80 MRS001 Marasmus 40
81 c BDY011 Body Mass Index Quantitative Trait Locus 10 40
82 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
83 DSR002 Disorders of Intracellular Cobalamin Metabolism 17
84 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
85 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 10
86 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
87 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 3
88 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 67
89 BLR008 Bilirubin Metabolic Disorder 55
90 LYS002 Lysosomal Storage Disease 55
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 60
95 P ACQ009 Acquired Metabolic Disease 34
96 PLS010 Plasma Protein Metabolism Disease 28
97 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 24
98 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21
99 VTM003 Vitamin Metabolic Disorder 19
100 c THP005 Thiopurines, Poor Metabolism of, 2 14
101 P DRG022 Drug Metabolism, Altered, Cyp2c8-Related 6
102 c DRG023 Drug Metabolism, Altered, Ces1-Related 6
103 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 55
104 P MGL001 Megaloblastic Anemia 54
105 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
106 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 43
107 ACT149 Acetaminophen Metabolism 41
108 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
109 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 37
110 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 35
111 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
112 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 33
113 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 32
114 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
115 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32
116 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 30
117 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 30
118 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
119 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
120 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 30
121 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
122 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29
123 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
124 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 28
125 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 28
126 ANT078 Antipyrine Metabolism 26
127 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 25
128 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 25
129 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
130 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 24
131 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
132 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 22
133 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
134 c DRG020 Drug Metabolism, Poor, Cyp2d6-Related 20
135 ERY030 Erythrocyte Lactate Transporter Defect 18
136 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
137 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17
138 SHR107 Short Stature-Obesity Syndrome 17
139 ZNC006 Zinc, Elevated Plasma 17
140 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
141 NTR002 Nutritional Optic Neuropathy 15
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 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
146 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 8
147 CHR069 Chronic Metabolic Polyneuropathy 4
148 HYL006 Hyaluronan Metabolism, Defect in 3
149 CYS001 Cystic Fibrosis 83
150 P PRK057 Parkinson Disease, Late-Onset 76
151 c HMC039 Hemochromatosis, Type 1 74
152 PHN003 Phenylketonuria 73
153 ADR007 Adrenoleukodystrophy 72
154 FBR012 Fabry Disease 72
155 P DBT085 Diabetes Mellitus, Insulin-Dependent 72
156 P DMN001 Diamond-Blackfan Anemia 71
157 P TYS001 Tay-Sachs Disease 70
158 SMT004 Smith-Lemli-Opitz Syndrome 69
159 P AMY004 Amyloidosis 68
160 P KRB001 Krabbe Disease 68
161 LWC002 Lowe Oculocerebrorenal Syndrome 67
162 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
163 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 66
164 c GLY008 Glycogen Storage Disease Ii 66
165 TNG002 Tangier Disease 64
166 c MCP050 Mucopolysaccharidosis, Type Ii 64
167 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
168 HYP066 Hyperglycemia 64
169 P GCH001 Gaucher's Disease 64
170 c LBR014 Leber Congenital Amaurosis 4 63
171 RFS006 Refsum Disease, Classic 62
172 LSC001 Lesch-Nyhan Syndrome 62
173 CRB011 Cerebrotendinous Xanthomatosis 62
174 c NMN016 Niemann-Pick Disease, Type B 62
175 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 62
176 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62
177 c MCP049 Mucopolysaccharidosis, Type Vii 62
178 P PRP029 Porphyria 61
179 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
180 c GCH015 Gaucher Disease, Type I 61
181 P NMN002 Niemann-Pick Disease 61
182 LYS012 Lysosomal Acid Lipase Deficiency 61
183 ARG002 Argininosuccinic Aciduria 61
184 ALP103 Alpha-1-Antitrypsin Deficiency 61
185 P GLY013 Glycogen Storage Disease 60
186 c PRT132 Protoporphyria, Erythropoietic, 1 60
187 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
188 c MNN047 Mannosidosis, Alpha B, Lysosomal 59
189 c PRX045 Peroxisome Biogenesis Disorder 1b 59
190 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58
191 GLC003 Glucose Intolerance 58
192 MTC007 Mitochondrial Complex I Deficiency 57
193 PRP032 Porphyria Variegata 57
194 P INF016 Infantile Epileptic Encephalopathy 57
195 c ANM036 Anemia, Sideroblastic, 1 56
196 ASP002 Aspartylglucosaminuria 55
197 CPR004 Coproporphyria, Hereditary 55
198 HRL003 Hurler Syndrome 55
199 HYP060 Hyperinsulinism 55
200 P ZLL001 Zellweger Syndrome 55
201 HYP005 Hypokalemia 55
202 P HYP050 Hyperinsulinemic Hypoglycemia 55
203 CHN055 Chanarin-Dorfman Syndrome 55
204 MTC097 Mitochondrial Complex Iv Deficiency 54
205 MLT135 Multiple Sulfatase Deficiency 54
206 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
207 ART002 Arts Syndrome 54
208 c GCH016 Gaucher Disease, Type Ii 54
209 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 54
210 P PRM002 Primary Hyperoxaluria 53
211 ERL001 Early Myoclonic Encephalopathy 53
212 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
213 c CNT075 Central Precocious Puberty 53
214 TRS021 Triosephosphate Isomerase Deficiency 52
215 P PRC019 Precocious Puberty 52
216 GLC012 Galactosialidosis 52
217 PRT038 Protein-Energy Malnutrition 52
218 PRP082 Porphyria, Congenital Erythropoietic 52
219 P LCT001 Lactic Acidosis 52
220 XNT003 Xanthomatosis 51
221 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
222 BRT005 Barth Syndrome 51
223 GLC009 Glucosephosphate Dehydrogenase Deficiency 51
224 NNT017 Neonatal Adrenoleukodystrophy 50
225 ORT008 Orotic Aciduria 50
226 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
227 c PRX059 Peroxisome Biogenesis Disorder 1a 49
228 c GCH017 Gaucher Disease, Type Iii 49
229 P NGH001 Night Blindness 49
230 P TYR004 Tyrosinemia 49
231 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
232 FRB001 Farber Lipogranulomatosis 49
233 HYP025 Hyperphosphatemia 49
234 CLC006 Calcinosis 48
235 PRD004 Prediabetes Syndrome 48
236 DNN001 Danon Disease 48
237 c ALB019 Albinism, Oculocutaneous, Type Iv 48
238 OVR063 Overnutrition 48
239 VTM002 Vitamin B12 Deficiency 48
240 TRN022 Transcobalamin Ii Deficiency 48
241 c CRP023 Carpenter Syndrome 1 48
242 P HYP058 Hypervitaminosis a 48
243 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 47
244 P NNT009 Neonatal Diabetes Mellitus 47
245 LPP002 Lipoprotein Glomerulopathy 47
246 HYP347 Hypotonia-Cystinuria Syndrome 47
247 HRT031 Hartnup Disorder 47
248 c ACT078 Acute Porphyria 47
249 P NLX004 Neu-Laxova Syndrome 1 46
250 MNC019 Monocarboxylate Transporter 1 Deficiency 46
251 c HMC021 Hemochromatosis, Type 2a 46
252 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 46
253 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
254 P LPM005 Lipomatosis 46
255 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
256 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 46
257 VTM001 Vitamin K Deficiency Hemorrhagic Disease 46
258 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
259 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 45
260 RBF001 Riboflavin Deficiency 45
261 MHR001 Mohr-Tranebjaerg Syndrome 45
262 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
263 DBT090 Diabetes and Deafness, Maternally Inherited 45
264 PRX001 Peroxisomal Disease 45
265 c GLY023 Glycogen Storage Disease Type 0 45
266 P MNN018 Mannosidosis 45
267 P MYG005 Myoglobinuria 45
268 P TRM004 Trimethylaminuria 44
269 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
270 PRS127 Pearson Marrow-Pancreas Syndrome 44
271 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
272 PHS021 Phosphoglycerate Dehydrogenase Deficiency 44
273 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
274 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
275 c TYR011 Tyrosinemia, Type Iii 43
276 c ALB015 Albinism, Oculocutaneous, Type V 42
277 P MTC004 Mitochondrial Encephalomyopathy 42
278 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 42
279 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
280 P JVN024 Juvenile Hereditary Hemochromatosis 42
281 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 42
282 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
283 P XNT004 Xanthinuria 42
284 c 3MT014 3-Methylglutaconic Aciduria, Type V 42
285 c GLY098 Glycogen Storage Disease, Type Ixd 42
286 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
287 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
288 c CTR130 Cataract 9, Multiple Types 41
289 P CNG003 Congenital Dyserythropoietic Anemia 41
290 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
291 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 41
292 c PNT049 Pontocerebellar Hypoplasia, Type 2d 41
293 c ALB016 Albinism, Oculocutaneous, Type Vii 40
294 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 40
295 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
296 BTN004 Biotin Deficiency 40
297 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
298 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
299 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
300 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
301 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 40
302 END028 Endemic Goiter 40
303 c HYP057 Hypervitaminosis D 40
304 c ERL056 Early-Onset Parkinson's Disease 40
305 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
306 NNK001 Nonaka Myopathy 40
307 P GNG010 Gangliosidosis Gm2 40
308 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
309 c MYC068 Myoclonic Epilepsy of Infancy 39
310 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
311 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
312 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
313 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
314 HYP550 Hypomagnesemia 1, Intestinal 39
315 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 39
316 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 39
317 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
318 c CTR118 Cataract 14, Multiple Types 39
319 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
320 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
321 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 39
322 HRL004 Hurler-Scheie Syndrome 38
323 ARB001 Ariboflavinosis 38
324 c CTR115 Cataract 16, Multiple Types 38
325 c MCL016 Mucolipidosis Iii Gamma 38
326 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
327 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 38
328 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
329 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
330 c MCP051 Mucopolysaccharidosis, Type Ix 38
331 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
332 CLS049 Classic Phenylketonuria 38
333 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 37
334 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
335 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
336 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
337 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
338 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 37
339 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 37
340 GLY032 Glycosylphosphatidylinositol Deficiency 37
341 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 37
342 c CTR170 Cataract 30, Multiple Types 37
343 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
344 CHL045 Choline Deficiency Disease 37
345 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
346 SLT014 Salt and Pepper Developmental Regression Syndrome 37
347 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
348 c CTR098 Cataract 1, Multiple Types 37
349 CHR387 Chromosome Xp21 Deletion Syndrome 37
350 NTR007 Neutral Lipid Storage Disease with Myopathy 36
351 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
352 c CNG188 Congenital Disorder of Glycosylation, Type if 36
353 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 36
354 P SPS008 Spastic Ataxia 36
355 SNG007 Sengers Syndrome 36
356 c PRK025 Parkinson Disease 10 36
357 INF159 Infantile Sialic Acid Storage Disease 36
358 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
359 FLT009 Folate Malabsorption, Hereditary 36
360 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 35
361 c LBR007 Leber Congenital Amaurosis 12 35
362 CHL050 Cholesterol Ester Storage Disease 35
363 c CTR122 Cataract 5, Multiple Types 35
364 c CNG379 Congenital Disorder of Glycosylation, Type It 35
365 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 35
366 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
367 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 35
368 LGH012 Leigh Syndrome with Leukodystrophy 35
369 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
370 c MTC060 Mitochondrial Dna Depletion Syndrome 9 35
371 c HRD173 Hereditary Late-Onset Parkinson Disease 35
372 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
373 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 34
374 c CTR174 Cataract 40 34
375 P 3MT007 3-Methylglutaconic Aciduria 34
376 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 34
377 c HRD142 Hereditary Xanthinuria 34
378 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 34
379 c LBR011 Leber Congenital Amaurosis 16 34
380 c CTR103 Cataract 4, Multiple Types 34
381 c CTR141 Cataract 21, Multiple Types 34
382 INC022 Inclusion-Cell Disease 34
383 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 34
384 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
385 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
386 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 33
387 KLL014 Kelley-Seegmiller Syndrome 33
388 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
389 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 33
390 c PRP091 Porphyria Cutanea Tarda, Type I 33
391 GBT001 Gaba-Transaminase Deficiency 33
392 CTN011 Cutaneous Porphyria 33
393 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 33
394 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
395 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 33
396 HSD004 Hsd10 Mitochondrial Disease 33
397 PLY010 Polyclonal Hypergammaglobulinemia 33
398 PHS022 Phosphoserine Phosphatase Deficiency 33
399 c PRX055 Peroxisome Biogenesis Disorder 11a 33
400 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
401 c CTR125 Cataract 7 33
402 c ZLL011 Zellweger Spectrum Disorder 33
403 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 33
404 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 32
405 CMB020 Combined Saposin Deficiency 32
406 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
407 c CTR145 Cataract 44 32
408 c DMN021 Diamond-Blackfan Anemia 6 32
409 SRC015 Sarcosinemia 32
410 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
411 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
412 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
413 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
414 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
415 FLC001 Folic Acid Deficiency Anemia 31
416 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
417 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 31
418 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
419 c MTC059 Mitochondrial Dna Depletion Syndrome 5 31
420 c ACQ027 Acquired Cutis Laxa 31
421 c CTR158 Cataract 37 31
422 MNC004 Monoclonal Paraproteinemia 31
423 RBS005 Ribose 5-Phosphate Isomerase Deficiency 31
424 c LBR013 Leber Congenital Amaurosis 3 30
425 c GLY057 Glycogen Storage Disease X 30
426 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
427 PCD001 Pica Disease 30
428 GLT005 Glutamate Formiminotransferase Deficiency 30
429 P SPS012 Spastic Paraplegia 3a 30
430 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
431 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
432 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
433 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
434 c MTC088 Mitochondrial Dna Depletion Syndrome 13 30
435 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
436 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 30
437 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 30
438 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
439 c PRX056 Peroxisome Biogenesis Disorder 11b 29
440 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
441 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
442 MYP097 Myopathy with Lactic Acidosis, Hereditary 29
443 c HRD186 Hereditary Spastic Paraplegia 51 29
444 c PRX063 Peroxisome Biogenesis Disorder 2a 29
445 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
446 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
447 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
448 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 29
449 c TYP035 Type 1 Diabetes Mellitus 11 29
450 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 29
451 c GLY017 Glycogen Storage Disease Ic 29
452 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
453 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
454 c NPH102 Nephrotic Syndrome, Type 14 29
455 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 29
456 c CTR175 Cataract 24 29
457 c PRX060 Peroxisome Biogenesis Disorder 5a 29
458 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 29
459 c TYP037 Type 1 Diabetes Mellitus 13 29
460 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
461 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
462 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
463 c TYP032 Type 1 Diabetes Mellitus 6 28
464 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
465 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
466 c PRX053 Peroxisome Biogenesis Disorder 14b 28
467 c CTR121 Cataract 25 28
468 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
469 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
470 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 28
471 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
472 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
473 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 28
474 MLD011 Mild Hyperphenylalaninemia 28
475 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
476 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 28
477 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 28
478 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 28
479 PHS014 Phosphoglycerate Kinase 1 Deficiency 28
480 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 28
481 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 28
482 c PRX054 Peroxisome Biogenesis Disorder 12a 27
483 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
484 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
485 c LBR009 Leber Congenital Amaurosis 14 27
486 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
487 CRT011 Carotenemia 27
488 c PNT039 Pontocerebellar Hypoplasia, Type 7 27
489 c TYP033 Type 1 Diabetes Mellitus 7 27
490 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
491 ACD011 Acid Phosphatase Deficiency 27
492 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 27
493 c CTR124 Cataract 10, Multiple Types 27
494 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
495 LKT001 Leukotriene C4 Synthase Deficiency 27
496 P EPL198 Epilepsy, Myoclonic Juvenile 27
497 c PRX050 Peroxisome Biogenesis Disorder 9b 27
498 c CRP022 Carpenter Syndrome 2 27
499 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 27
500 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
501 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
502 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 27
503 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
504 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
505 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 27
506 c INF122 Infantile Krabbe Disease 27
507 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
508 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
509 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
510 c PRR026 Perrault Syndrome 5 26
511 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
512 MCL022 Mucolipidoses 26
513 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 26
514 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 26
515 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
516 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
517 c ALB017 Albinism, Oculocutaneous, Type Vi 26
518 c TYP028 Type 1 Diabetes Mellitus 2 26
519 c EPL210 Epilepsy, Progressive Myoclonic, 6 26
520 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 26
521 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
522 c CTR166 Cataract 33, Multiple Types 26
523 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 26
524 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
525 GLT028 Glutaric Aciduria Iii 26
526 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
527 c DMN017 Diamond-Blackfan Anemia 10 25
528 c SPN418 Spinocerebellar Ataxia 44 25
529 c PRX043 Peroxisome Biogenesis Disorder 6b 25
530 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 25
531 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
532 c TYP036 Type 1 Diabetes Mellitus 12 25
533 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
534 c GLY001 Glycogen Storage Disease Ix 25
535 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
536 c DMN022 Diamond-Blackfan Anemia 9 25
537 c PRK093 Parkinson Disease 8, Autosomal Dominant 25
538 c PRC047 Precocious Puberty, Central, 1 25
539 c PRX048 Peroxisome Biogenesis Disorder 10a 25
540 c PRX046 Peroxisome Biogenesis Disorder 7a 25
541 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 25
542 c PRX091 Peroxisome Biogenesis Disorder 8a 25
543 c SPN259 Spinocerebellar Ataxia 32 25
544 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 25
545 c TYP031 Type 1 Diabetes Mellitus 5 25
546 c PRX057 Peroxisome Biogenesis Disorder 4a 25
547 c SPN421 Spinocerebellar Ataxia 47 25
548 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 25
549 c HRM020 Hermansky-Pudlak Syndrome 10 25
550 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 25
551 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 25
552 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
553 c EPL155 Epilepsy, Progressive Myoclonic, 8 25
554 LYS024 Lysosomal and Lipase Deficiency 25
555 c SPS142 Spastic Ataxia 2, Autosomal Recessive 24
556 c PRX065 Peroxisome Biogenesis Disorder 3a 24
557 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
558 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
559 c TYP027 Type 1 Diabetes Mellitus 10 24
560 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
561 c PRX051 Peroxisome Biogenesis Disorder 6a 24
562 c SPN323 Spinocerebellar Ataxia 41 24
563 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 24
564 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
565 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
566 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
567 LCT013 Lactase Deficiency, Congenital 24
568 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
569 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
570 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 24
571 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 24
572 SDH011 Sedoheptulokinase Deficiency 24
573 c EPL134 Epilepsy, Progressive Myoclonic 7 24
574 c PRX052 Peroxisome Biogenesis Disorder 13a 24
575 c PRX058 Peroxisome Biogenesis Disorder 4b 24
576 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
577 c DMN019 Diamond-Blackfan Anemia 4 24
578 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 24
579 c TYP038 Type 1 Diabetes Mellitus 15 24
580 CMB064 Combined Oxidative Phosphorylation Deficiency 24 24
581 c PRK052 Parkinson Disease 17 24
582 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24
583 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 24
584 c PRX062 Peroxisome Biogenesis Disorder 8b 24
585 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 23
586 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
587 c HMC019 Hemochromatosis, Type 2b 23
588 SWY001 Swayback 23
589 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 23
590 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 23
591 c DMN024 Diamond-Blackfan Anemia 7 23
592 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
593 MRC009 Mercaptolactate-Cysteine Disulfiduria 23
594 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23
595 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 23
596 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
597 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 23
598 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
599 c DMN018 Diamond-Blackfan Anemia 5 23
600 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 23
601 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 23
602 c CTR180 Cataract 22, Multiple Types 23
603 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 23
604 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
605 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 23
606 c LBR010 Leber Congenital Amaurosis 15 23
607 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
608 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 23
609 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
610 c ATS210 Autosomal Recessive Sideroblastic Anemia 23
611 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
612 CMB045 Combined Oxidative Phosphorylation Deficiency 19 23
613 c CTR131 Cataract 17, Multiple Types 23
614 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
615 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
616 c PRX047 Peroxisome Biogenesis Disorder 5b 23
617 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
618 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 23
619 c PRK070 Parkinson Disease 21 23
620 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
621 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
622 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
623 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 22
624 c JVN058 Juvenile-Onset Parkinson's Disease 22
625 HYP690 Hyper-Beta-Alaninemia 22
626 c SPN419 Spinocerebellar Ataxia 45 22
627 LPY002 Lipoyltransferase 1 Deficiency 22
628 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
629 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
630 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 22
631 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
632 c PNT042 Pontocerebellar Hypoplasia, Type 2f 22
633 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
634 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 22
635 c NLX003 Neu-Laxova Syndrome 2 22
636 c DMN029 Diamond-Blackfan Anemia 11 22
637 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 22
638 c HYP713 Hypermanganesemia with Dystonia 2 22
639 c CTR165 Cataract 19, Multiple Types 22
640 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 22
641 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
642 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 22
643 c CTR184 Cataract 39, Multiple Types 22
644 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
645 MYP149 Myopathy, Mitochondrial, and Ataxia 22
646 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
647 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
648 CMB015 Combined Oxidative Phosphorylation Deficiency 4 22
649 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 22
650 c PRX066 Peroxisome Biogenesis Disorder 3b 22
651 c LBR029 Leber Congenital Amaurosis 17 22
652 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 22
653 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 22
654 CMB013 Combined Oxidative Phosphorylation Deficiency 2 22
655 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
656 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 22
657 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 22
658 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 22
659 CMB049 Combined Oxidative Phosphorylation Deficiency 17 22
660 c CTR116 Cataract 15, Multiple Types 22
661 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
662 CMB065 Combined Oxidative Phosphorylation Deficiency 26 22
663 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
664 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 21
665 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 21
666 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
667 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
668 SRN001 Serine Deficiency 21
669 c CTR182 Cataract 23, Multiple Types 21
670 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
671 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 21
672 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
673 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
674 c TYP039 Type 1 Diabetes Mellitus 17 21
675 c DMN020 Diamond-Blackfan Anemia 8 21
676 c PRR021 Perrault Syndrome 4 21
677 c PRX089 Peroxisome Biogenesis Disorder 10b 21
678 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
679 CMB044 Combined Oxidative Phosphorylation Deficiency 14 21
680 c CTR105 Cataract 12, Multiple Types 21
681 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 21
682 CMB043 Combined Oxidative Phosphorylation Deficiency 9 21
683 CMB016 Combined Oxidative Phosphorylation Deficiency 5 21
684 ISL116 Isolated Complex Iii Deficiency 21
685 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21
686 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
687 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21
688 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
689 c CTR163 Cataract 46, Juvenile-Onset 21
690 c CTR159 Cataract 35 21
691 P PRX064 Peroxisome Biogenesis Disorder 2b 21
692 c HYP510 Hyperekplexia 2 21
693 c HYP564 Hypocalcemia, Autosomal Dominant 2 20
694 c ANM034 Anemia, Sideroblastic, 4 20
695 MTH040 Methylmalonyl-Coa Epimerase Deficiency 20
696 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 20
697 c DMN028 Diamond-Blackfan Anemia 12 20
698 c CTR183 Cataract 38 20
699 c CTR097 Cataract 34, Multiple Types 20
700 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 20
701 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
702 c HYP819 Hyperlipoproteinemia, Type Id 20
703 c DMN039 Diamond-Blackfan Anemia 17 20
704 c PRX068 Peroxisome Biogenesis Disorder 7b 20
705 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 20
706 c CTR111 Cataract 36 20
707 CMB077 Combined Oxidative Phosphorylation Deficiency 30 20
708 c CTR136 Cataract 41 20
709 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 20
710 c CTR178 Cataract 27 20
711 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 20
712 c TYP040 Type 1 Diabetes Mellitus 18 20
713 c PRM150 Primary Localized Amyloidosis 20
714 ISL082 Isolated Atp Synthase Deficiency 20
715 c D2H003 D-2-Hydroxyglutaric Aciduria 2 20
716 CMB048 Combined Oxidative Phosphorylation Deficiency 15 20
717 CMB082 Combined Oxidative Phosphorylation Deficiency 33 20
718 PLY114 Polyglucosan Body Myopathy 2 20
719 c HYP825 Hyperekplexia 4 20
720 CRT066 Cortisone Reductase Deficiency 2 20
721 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 20
722 c PRC046 Precocious Puberty, Central, 2 20
723 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 20
724 c TYP034 Type 1 Diabetes Mellitus 8 20
725 GLY094 Glycine Encephalopathy with Normal Serum Glycine 19
726 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
727 CMB071 Combined Oxidative Phosphorylation Deficiency 27 19
728 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
729 CRT065 Cortisone Reductase Deficiency 1 19
730 c PRK098 Parkinson Disease 5, Autosomal Dominant 19
731 CMB051 Combined Oxidative Phosphorylation Deficiency 21 19
732 c DMN030 Diamond-Blackfan Anemia 13 19
733 c TYP030 Type 1 Diabetes Mellitus 4 19
734 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 19
735 c DMN040 Diamond-Blackfan Anemia 16 19
736 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
737 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
738 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
739 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 19
740 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
741 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 19
742 CMB052 Combined Oxidative Phosphorylation Deficiency 20 19
743 c CTR139 Cataract 42 19
744 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
745 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 19
746 CMB079 Combined Oxidative Phosphorylation Deficiency 29 19
747 c SPN121 Spondylocostal Dysostosis 1 19
748 c CTR110 Cataract 26, Multiple Types 19
749 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 19
750 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 19
751 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
752 c EPL217 Epilepsy, Juvenile Myoclonic 10 18
753 MTC079 Mitochondrial Pyruvate Carrier Deficiency 18
754 PRM123 Paramyloidosis 18
755 c HYP519 Hyperekplexia 3 18
756 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 18
757 c PRR022 Perrault Syndrome 2 18
758 c HRD188 Hereditary Spastic Paraplegia 72 18
759 c AHM002 Ah Amyloidosis 18
760 c MYC086 Myoclonic Epilepsy, Juvenile 4 18
761 c CTR106 Cataract 20, Multiple Types 18
762 PYR009 Pyridoxine Deficiency Anemia 18
763 c PRK022 Parkinson Disease 12 18
764 c PRK083 Parkinson Disease 22, Autosomal Dominant 18
765 c CTR144 Cataract 43 18
766 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
767 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
768 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 18
769 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
770 c ESS007 Essential Pentosuria 18
771 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 18
772 c CTR157 Cataract 28 18
773 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 18
774 c CTR185 Cataract 30 18
775 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 18
776 c CTR160 Cataract 45 18
777 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
778 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
779 c PRR033 Perrault Syndrome 6 18
780 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 18
781 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
782 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 17
783 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 17
784 c LRR001 Lrrk2-Related Parkinson Disease 17
785 c GLY093 Glycogen Storage Disease Ixa 17
786 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
787 c XLN229 X-Linked Chondrodysplasia Punctata 2 17
788 c MYG006 Myoglobinuria, Autosomal Dominant 17
789 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 17
790 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
791 c TYP029 Type 1 Diabetes Mellitus 3 17
792 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 17
793 STT003 Steatitis 17
794 c CTR128 Cataract 33 17
795 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 17
796 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 17
797 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
798 MTC115 Mitochondrial Myopathy, Lethal, Infantile 17
799 CMB085 Combined Oxidative Phosphorylation Deficiency 35 17
800 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
801 CRB137 Cerebral Creatine Deficiency Syndrome 17
802 ATY025 Atypical Glycine Encephalopathy 16
803 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 16
804 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 16
805 c EFM001 Efemp2-Related Cutis Laxa 16
806 c PRK058 Parkinson Disease 16 16
807 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
808 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16
809 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 16
810 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 16
811 GNT042 Genetic Recurrent Myoglobinuria 16
812 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 16
813 c DMN045 Diamond-Blackfan Anemia-Like 16
814 c DWL004 Dowling-Degos Disease 4 16
815 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 15
816 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
817 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
818 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
819 c PRT135 Protoporphyria, Erythropoietic, 2 15
820 P MTC014 Mitochondrial Dna Deletion Syndromes 15
821 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
822 RNN006 Reunion Island Larsen Syndrome 15
823 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
824 c TFR001 Tfr2-Related Hereditary Hemochromatosis 15
825 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 15
826 HYD055 Hydroxylysinuria 15
827 c SPS230 Spastic Paraplegia Type 49 15
828 c TYS005 Tay-Sachs Disease, B1 Variant 15
829 c PRG133 Progressive Myoclonic Epilepsy Type 5 14
830 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 14
831 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
832 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 14
833 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 14
834 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
835 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
836 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
837 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 14
838 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 14
839 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 14
840 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
841 GNR029 Generalized Galactose Epimerase Deficiency 14
842 c INF047 Infantile Free Sialic Acid Storage Disease 14
843 c INF166 Infantile Epileptic Encephalopathy 55 14
844 c PSD023 Pseudo-Gaucher Disease 14
845 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 14
846 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 14
847 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
848 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 14
849 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 14
850 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 14
851 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
852 c SPR097 Sporadic Hyperekplexia 13
853 c DWL005 Dowling-Degos Disease 3 13
854 PHS019 Phosphohydroxylysinuria 13
855 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 13
856 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 13
857 HYP822 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 13
858 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
859 c PRM209 Primary Trimethylaminuria 12
860 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 12
861 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
862 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
863 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
864 c SPN122 Spondylocostal Dysostosis 2 11
865 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
866 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
867 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 11
868 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 11
869 c ACQ002 Acquired Night Blindness 11
870 c ATS414 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd 11
871 c FBL003 Fbln5-Related Cutis Laxa 11
872 c INF169 Infantile Epileptic Encephalopathy 59 11
873 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 11
874 c SPN124 Spondylocostal Dysostosis 4 11
875 c SPN123 Spondylocostal Dysostosis 3 11
876 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
877 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
878 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
879 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
880 FLN005 Folinic Acid-Responsive Seizures 10
881 c SPS214 Spastic Ataxia 4 10
882 c SPS171 Spastic Ataxia 5 10
883 c VPS003 Vps35-Related Parkinson Disease 10
884 c INF168 Infantile Epileptic Encephalopathy 58 10
885 c INF165 Infantile Epileptic Encephalopathy 56 10
886 c INF167 Infantile Epileptic Encephalopathy 57 10
887 c SCN047 Secondary Pulmonary Hemosiderosis 10
888 c ACT189 Acute Neonatal Citrullinemia Type I 10
889 c SCN039 Secondary Central Precocious Puberty 10
890 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
891 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
892 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
893 c LCT020 Lactic Acidosis, Chronic Adult Form 10
894 c KRN003 Kernicterus Due to Isoimmunization 9
895 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
896 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 9
897 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
898 c SPS163 Spastic Ataxia 3 9
899 c SPS162 Spastic Ataxia 1 9
900 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
901 c ADL071 Adult Krabbe Disease 9
902 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
903 c ADL083 Adult-Onset Citrullinemia Type I 9
904 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 9
905 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 9
906 c CHR572 Charcot-Marie-Tooth Disease Type 7 9
907 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
908 c SPS229 Spastic Ataxia 8 8
909 c SPS170 Spastic Ataxia 2 8
910 MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 8
911 c ALP056 Alpha-Mannosidosis, Adult Form 8
912 P TTL001 Total Internal Ophthalmoplegia 8
913 c ALP055 Alpha-Mannosidosis, Infantile Form 8
914 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
915 c SPS172 Spastic Ataxia 7 8
916 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
917 P JVN036 Juvenile Sialidosis Type 2 7
918 c CNG348 Congenital Sialidosis Type 2 7
919 TRN049 Transient Tyrosinemia of the Newborn 7
920 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
921 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
922 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
923 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
924 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 7
925 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
926 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 7
927 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 7
928 PRM138 Pure Mitochondrial Myopathy 6
929 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
930 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
931 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
932 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 6
933 P SYC001 Say Carpenter Syndrome 6
934 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 6
935 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
936 XYL001 Xylt1-Cdg 5
937 c LCT010 Lactic Acidosis Congenital Infantile 5
938 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
939 ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 5
940 CRB012 Cerebral Folate Receptor Alpha Deficiency 4
941 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 4
942 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4
943 DBT003 Diabetic Peripheral Angiopathy 3
944 MTR052 Maternally-Inherited Mitochondrial Dystonia 3
945 ADN058 Adenylosuccinase Lyase Deficiency 2
946 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
947 AYZ001 Ayazi Syndrome 9
948 RCK004 Rickets 65
949 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 63
950 CMR002 Coumarin Resistance 51
951 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 46
952 GRC001 Gracile Syndrome 34
953 MCR257 Microcephaly, Amish Type 28
954 OBS050 Obesity Due to Congenital Leptin Deficiency 18
955 CHL110 Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency 10
956 P PRD006 Prader-Willi Syndrome 63
957 FRC001 Fructose-1,6-Bisphosphatase Deficiency 47
958 IRN004 Iron-Refractory Iron Deficiency Anemia 42
959 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
960 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
961 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
962 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
963 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
964 c PRD024 Prader-Willi Syndrome Due to Translocation 6
965 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 6
966 GLC006 Galactosemia 66
967 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 54
968 ADN024 Adenine Phosphoribosyltransferase Deficiency 50
969 TTR005 Tetrahydrobiopterin Deficiency 41
970 3HY001 3-Hydroxyisobutyric Aciduria 25
971 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
972 FTT001 Fatty Liver Disease 66
973 BTN003 Biotinidase Deficiency 57
974 ALS001 Alstrom Syndrome 55
975 APP015 Apparent Mineralocorticoid Excess 55
976 HLC001 Holocarboxylase Synthetase Deficiency 53
977 LYS003 Lysinuric Protein Intolerance 53
978 ISV001 Isovaleric Acidemia 52
979 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
980 ALP077 Alpha-Methylacetoacetic Aciduria 47
981 P CRB059 Cerebellar Degeneration 40
982 c PRM015 Primary Cerebellar Degeneration 31
983 HYP364 Hyperostosis Frontalis Interna 30
984 DGL002 D-Glyceric Aciduria 29
985 P PNT006 Pentosuria 24
986 c SBC039 Subacute Cerebellar Degeneration 23
987 THP001 Thiopurine S Methyltranferase Deficiency 21
988 DPL003 Diploid-Triploid Mosaicism 15
989 EFV001 Efavirenz, Poor Metabolism of 13
990 MN1002 Man1b1-Cdg 11
991 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 70
992 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 63
993 c FTT008 Fatty Liver Disease, Nonalcoholic 1 60
994 P LDD007 Liddle Syndrome 1 56
995 P NNL004 Nonalcoholic Fatty Liver Disease 55
996 CRB045 Cerebellar Hypoplasia 52
997 GLY014 Glycerol Kinase Deficiency 51
998 MTH078 Methylmalonic Aciduria, Cblb Type 47
999 SLR001 Sialuria 44
1000 IRN008 Iron Overload in Africa 43
1001 MLT018 Multiple Carboxylase Deficiency 41
1002 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
1003 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
1004 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32
1005 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
1006 HWK001 Hawkinsinuria 30
1007 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 28
1008 FRC005 Fructosuria, Essential 28
1009 CNG016 Congenital Intrinsic Factor Deficiency 27
1010 CHR506 Choroideremia, Deafness, and Mental Retardation 24
1011 CLR029 Clark-Baraitser Syndrome 23
1012 SCC002 Saccharopinuria 23
1013 c LDD008 Liddle Syndrome 2 23
1014 c BMN004 Biemond Syndrome Ii 19
1015 AMN012 Aminoacidopathies 18
1016 c FTT007 Fatty Liver Disease, Nonalcoholic 2 13
1017 P BMN001 Biemond Syndrome 13
1018 CMR005 Camera-Marugo-Cohen Syndrome 12
1019 TGL001 Tiglic Acidemia 11
1020 MPL011 Maple Syrup Urine Disease, Mild Variant 11
1021 c LDD009 Liddle Syndrome 3 9
1022 WNS001 Weinstein Kliman Scully Syndrome 5
1023 c BMN003 Biemond Syndrome Type 1 3
1024 P LVR013 Liver Disease 75
1025 P ALC004 Alcohol Abuse 69
1026 P DBT009 Diabetes Mellitus 67
1027 P CNG411 Congenital Disorder of Glycosylation, Type in 66
1028 c MCL062 Mucolipidosis Ii Alpha/beta 66
1029 ISC004 Ischemia 66
1030 ETN001 Eating Disorder 64
1031 PRP083 Porphyria, Acute Intermittent 64
1032 P HML002 Hemolytic Anemia 63
1033 HYP056 Hypoglycemia 63
1034 SDD001 Sudden Infant Death Syndrome 62
1035 P HYP724 Hyperlipoproteinemia, Type Iii 62
1036 GST033 Gestational Diabetes 62
1037 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 62
1038 P MCL013 Mucolipidosis Iv 61
1039 PTR032 Peters-Plus Syndrome 60
1040 P MTR004 Maturity-Onset Diabetes of the Young 60
1041 P NPH012 Nephrotic Syndrome 59
1042 P CTR002 Cataract 58
1043 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 58
1044 WST001 West Syndrome 57
1045 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 57
1046 P HYP014 Hyperuricemia 56
1047 c DWL002 Dowling-Degos Disease 1 56
1048 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 55
1049 IRN001 Iron Deficiency Anemia 55
1050 CTR172 Citrullinemia, Classic 55
1051 HMZ003 Homozygous Familial Hypercholesterolemia 55
1052 VTM028 Vitamin E, Familial Isolated Deficiency of 55
1053 P MTC133 Mitochondrial Myopathy 54
1054 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 54
1055 SGW002 Segawa Syndrome, Autosomal Recessive 54
1056 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
1057 P HYP614 Hyperlipidemia, Familial Combined 54
1058 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1059 MCR004 Macroglobulinemia 53
1060 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
1061 P SHR001 Short Bowel Syndrome 53
1062 VTM027 Vitamin D-Dependent Rickets, Type 2a 53
1063 HYP732 Hyperalphalipoproteinemia 1 53
1064 c ACT134 Acute Liver Failure 53
1065 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 52
1066 BTY001 Butyrylcholinesterase Deficiency 52
1067 HMS001 Hemosiderosis 52
1068 c NPH055 Nephrotic Syndrome, Type 1 51
1069 P FML035 Familial Hyperlipidemia 51
1070 c HMC009 Hemochromatosis Type 2 51
1071 P PSD015 Pseudohypoparathyroidism 50
1072 FSH001 Fish-Eye Disease 50
1073 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 50
1074 P HYP818 Hypobetalipoproteinemia, Familial, 1 50
1075 c CRG004 Crigler-Najjar Syndrome, Type Ii 50
1076 HYP088 Hyper-Igd Syndrome 50
1077 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1078 LPD009 Lipid Storage Disease 49
1079 MTC020 Mitochondrial Complex Ii Deficiency 49
1080 HYP017 Hypophosphatemia 48
1081 P LCT002 Lactose Intolerance 48
1082 WRN003 Wernicke Encephalopathy 48
1083 c HMC035 Hemochromatosis, Type 4 47
1084 GLC106 Glucocorticoid Resistance, Generalized 47
1085 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
1086 c CNG027 Congenital Hemolytic Anemia 47
1087 c LBR012 Leber Congenital Amaurosis 2 46
1088 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
1089 c LBR004 Leber Congenital Amaurosis 1 46
1090 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 45
1091 DWR001 Dwarfism 45
1092 GLC004 Galactokinase Deficiency 45
1093 c ALB020 Albinism, Oculocutaneous, Type Iii 45
1094 c HYP768 Hyperlipoproteinemia, Type I 44
1095 c HMC010 Hemochromatosis, Type 3 44
1096 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 44
1097 c HYP396 Hypercholesterolemia, Autosomal Recessive 43
1098 SPH010 Sphingolipidosis 43
1099 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
1100 HYP081 Hypolipoproteinemia 43
1101 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 43
1102 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
1103 c L2H001 L-2-Hydroxyglutaric Aciduria 42
1104 P HRD001 Hereditary Multiple Exostoses 42
1105 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 42
1106 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 42
1107 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1108 P PLL002 Pellagra 42
1109 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
1110 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
1111 c LPD019 Lipodystrophy, Partial, Acquired 42
1112 GLY031 Glycoproteinosis 42
1113 c MCP047 Mucopolysaccharidosis, Type Iva 42
1114 c SPN330 Spondylocostal Dysostosis 5 41
1115 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
1116 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
1117 CNZ001 Coenzyme Q10 Deficiency Disease 41
1118 EPL131 Epilepsy, Pyridoxine-Dependent 41
1119 DHY011 Dihydropyrimidinase Deficiency 41
1120 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 41
1121 HYP236 Hyperbilirubinemia, Rotor Type 41
1122 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 41
1123 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
1124 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
1125 c SPN308 Spinocerebellar Ataxia 28 41
1126 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 40
1127 c HYP290 Hypobetalipoproteinemia, Familial, 2 40
1128 c LBR019 Leber Congenital Amaurosis 9 40
1129 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
1130 c NPH049 Nephrotic Syndrome, Type 2 40
1131 MTH074 Methionine Adenosyltransferase I/iii Deficiency 40
1132 c CTR129 Cataract 31, Multiple Types 40
1133 SLF014 Sulfite Oxidase Deficiency, Isolated 39
1134 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
1135 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 39
1136 HYP003 Hypermethioninemia 39
1137 c HRM011 Hermansky-Pudlak Syndrome 8 39
1138 PYR016 Pyridoxine Deficiency 39
1139 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 39
1140 ASP024 Asparagine Synthetase Deficiency 39
1141 TRN021 Transaldolase Deficiency 39
1142 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
1143 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 39
1144 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1145 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 39
1146 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 38
1147 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 38
1148 MCP033 Mucopolysaccharidoses 38
1149 c HRM012 Hermansky-Pudlak Syndrome 9 38
1150 BTR002 Beta-Ureidopropionase Deficiency 38
1151 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
1152 c GLY044 Glycogen Storage Disease Ixc 38
1153 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1154 CRT020 Cortisone Reductase Deficiency 37
1155 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
1156 c CNG413 Congenital Short Bowel Syndrome 37
1157 KSH001 Keshan Disease 37
1158 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37
1159 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 37
1160 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 37
1161 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1162 P ANT061 Antenatal Bartter Syndrome 37
1163 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
1164 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 36
1165 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
1166 c GLY016 Glycogen Storage Disease Ib 36
1167 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1168 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 36
1169 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 36
1170 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 36
1171 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 35
1172 P SCH017 Schindler Disease 35
1173 DSM002 Desmosterolosis 35
1174 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1175 NCT003 N-Acetylglutamate Synthase Deficiency 35
1176 c HMC034 Hemochromatosis, Type 5 35
1177 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 35
1178 KNZ001 Kanzaki Disease 35
1179 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 35
1180 c ALB024 Albinism, Ocular, Type I 35
1181 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35
1182 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
1183 c NPH054 Nephrotic Syndrome, Type 3 34
1184 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
1185 c HRM010 Hermansky-Pudlak Syndrome 7 34
1186 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 34
1187 PNC048 Pancreatic Lipase Deficiency 34
1188 PPC001 Pepck 1 Deficiency 34
1189 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1190 c BNG079 Benign Adult Familial Myoclonic Epilepsy 33
1191 c PRK071 Parkinson Disease 14, Autosomal Recessive 33
1192 P PRK101 Parkinsonism-Dystonia, Infantile, 1 33
1193 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 33
1194 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
1195 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
1196 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
1197 HMC001 Homocarnosinosis 33
1198 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 32
1199 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 32
1200 MTC008 Mitochondrial Complex Iii Deficiency 32
1201 c HYP804 Hyperlipidemia, Combined, 1 32
1202 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
1203 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
1204 c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 32
1205 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
1206 P CNG002 Congenital Bile Acid Synthesis Defect 32
1207 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
1208 c MTC063 Mitochondrial Dna Depletion Syndrome 3 32
1209 PLY158 Polyglucosan Body Neuropathy, Adult Form 32
1210 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1211 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1212 c MYC083 Myoclonic Epilepsy, Familial Infantile 31
1213 CMB012 Combined Oxidative Phosphorylation Deficiency 1 31
1214 c LBR005 Leber Congenital Amaurosis 10 31
1215 P FRS004 Free Sialic Acid Storage Disorders 31
1216 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 31
1217 c LBR018 Leber Congenital Amaurosis 8 31
1218 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
1219 PHS023 Phosphoserine Aminotransferase Deficiency 31
1220 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 31
1221 c CTR102 Cataract 2, Multiple Types 31
1222 c SPN284 Spinocerebellar Ataxia 38 31
1223 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 31
1224 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 31
1225 24D001 2,4-Dienoyl-Coa Reductase Deficiency 31
1226 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 31
1227 c PNT032 Pontocerebellar Hypoplasia, Type 9 31
1228 c HYP716 Hypermanganesemia with Dystonia 1 30
1229 c CTR096 Cataract 6, Multiple Types 30
1230 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 30
1231 c LBR016 Leber Congenital Amaurosis 6 30
1232 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 30
1233 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 30
1234 GLY099 Glycogen Storage Disease Ixa1 30
1235 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
1236 c FML324 Familial Porphyria Cutanea Tarda 30
1237 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 30
1238 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 30
1239 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
1240 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 29
1241 MTH077 Methylmalonic Aciduria, Cbla Type 29
1242 c CTR095 Cataract 8, Multiple Types 29
1243 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 29
1244 c GLY043 Glycogen Storage Disease Xii 29
1245 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
1246 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 29
1247 MND023 Mend Syndrome 29
1248 c GLY097 Glycogen Storage Disease Ixb 29
1249 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
1250 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
1251 c GCH013 Gaucher Disease, Type Iiic 28
1252 c CTR132 Cataract 3, Multiple Types 28
1253 LCT017 Lactate Dehydrogenase B Deficiency 28
1254 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 28
1255 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
1256 c GLY009 Glycogen Storage Disease Xv 28
1257 c NPH047 Nephrotic Syndrome, Type 4 28
1258 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
1259 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 28
1260 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
1261 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1262 c LBR015 Leber Congenital Amaurosis 5 28
1263 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 27
1264 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 27
1265 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
1266 MLD010 Mild Phenylketonuria 27
1267 c HYP248 Hyperprolinemia, Type I 27
1268 GLY061 Glycogen Storage Disease 0, Muscle 27
1269 c HYP603 Hyperoxaluria, Primary, Type Iii 27
1270 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 27
1271 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 27
1272 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
1273 c PNT030 Pontocerebellar Hypoplasia, Type 8 26
1274 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 26
1275 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
1276 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 26
1277 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 26
1278 c LPD036 Lipodystrophy, Familial Partial, Type 6 26
1279 c ATS132 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 26
1280 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
1281 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1282 c PRK065 Parkinson Disease 20, Early-Onset 26
1283 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 25
1284 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 25
1285 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 25
1286 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
1287 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
1288 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 25
1289 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 25
1290 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 25
1291 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
1292 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
1293 c LBR008 Leber Congenital Amaurosis 13 25
1294 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 25
1295 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 25
1296 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 25
1297 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1298 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 25
1299 c CTR169 Cataract 29 25
1300 c MTC126 Mitochondrial Dna Depletion Syndrome 14 25
1301 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 24
1302 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
1303 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
1304 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 24
1305 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
1306 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 24
1307 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
1308 c PRK091 Parkinson Disease 4, Autosomal Dominant 24
1309 CMB014 Combined Oxidative Phosphorylation Deficiency 3 24
1310 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 24
1311 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
1312 c CTR181 Cataract 18 24
1313 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
1314 c DMN006 Diamond-Blackfan Anemia 3 24
1315 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
1316 c ALC016 Alcohol Sensitivity, Acute 23
1317 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 23
1318 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 23
1319 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
1320 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 23
1321 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
1322 CMB008 Combined Oxidative Phosphorylation Deficiency 23
1323 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
1324 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
1325 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
1326 c HYP597 Hyperprolinemia, Type Ii 23
1327 c CTR119 Cataract 32, Multiple Types 23
1328 c DMN005 Diamond-Blackfan Anemia 2 23
1329 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 23
1330 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 23
1331 c INT262 Intermediate Maple Syrup Urine Disease 23
1332 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1333 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 23
1334 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 23
1335 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
1336 VRR003 Verruciform Xanthoma of Skin 22
1337 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
1338 c PRR024 Perrault Syndrome 3 22
1339 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 22
1340 TRH001 Trehalase Deficiency 22
1341 c CTR162 Cataract 47 22
1342 c ATS133 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 22
1343 c NPH073 Nephrotic Syndrome, Type 8 22
1344 P HYP821 Hypermanganesemia with Dystonia 22
1345 c LCT011 Lactose Intolerance, Adult Type 22
1346 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1347 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 22
1348 c ATS315 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 22
1349 CMB019 Combined Oxidative Phosphorylation Deficiency 8 22
1350 URC006 Urocanase Deficiency 22
1351 HYP279 Hypercholanemia, Familial 22
1352 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 22
1353 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 22
1354 c PRK102 Parkinsonism-Dystonia, Infantile, 2 22
1355 MTC037 Mitochondrial Phosphate Carrier Deficiency 22
1356 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 21
1357 c NPH074 Nephrotic Syndrome, Type 9 21
1358 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
1359 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 21
1360 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1361 CMB025 Combined Oxidative Phosphorylation Deficiency 10 21
1362 CRN042 Carnosinemia 21
1363 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
1364 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 21
1365 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
1366 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21
1367 CMB041 Combined Oxidative Phosphorylation Deficiency 13 21
1368 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 21
1369 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 21
1370 c SDR005 Sideroblastic Anemia Acquired 21
1371 TRN067 Transcobalamin I Deficiency 20
1372 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
1373 BSP004 Bisphosphoglycerate Mutase Deficiency 20
1374 FTL003 Fatal Infantile Encephalocardiomyopathy 20
1375 c NPH103 Nephrotic Syndrome, Type 15 20
1376 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
1377 CMB072 Combined Oxidative Phosphorylation Deficiency 28 20
1378 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 20
1379 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 20
1380 MTC025 Mitochondrial Myopathy with Diabetes 20
1381 c NPH096 Nephrotic Syndrome, Type 12 20
1382 c NPH095 Nephrotic Syndrome, Type 11 20
1383 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
1384 BRK013 Birk-Landau-Perez Syndrome 19
1385 FTL054 Fatal Infantile Cytochrome C Oxidase Deficiency 19
1386 c LBR017 Leber Congenital Amaurosis 7 19
1387 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1388 c NPH104 Nephrotic Syndrome, Type 16 18
1389 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1390 c LBR006 Leber Congenital Amaurosis 11 18
1391 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 18
1392 c HYP302 Hypomagnesemia 4, Renal 18
1393 HYD031 Hydroxyprolinemia 18
1394 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 18
1395 c NPH076 Nephrotic Syndrome, Type 10 18
1396 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 18
1397 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 18
1398 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 18
1399 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
1400 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 18
1401 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1402 c EXS021 Exostoses, Multiple, Type Iii 17
1403 INT043 Intestinal Disaccharidase Deficiency 17
1404 c DWL003 Dowling-Degos Disease 2 17
1405 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1406 c NPH093 Nephrotic Syndrome, Type 13 17
1407 c CTR025 Cataract, Total Congenital 17
1408 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 16
1409 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
1410 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
1411 VLN001 Valinemia 16
1412 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 16
1413 c HRD048 Hereditary Hyperuricemia 15
1414 BTM003 Beta-Aminoisobutyric Aciduria 15
1415 c GLT029 Glutaric Acidemia Type Iii 15
1416 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
1417 DBS003 Dibasic Amino Aciduria I 15
1418 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1419 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1420 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
1421 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1422 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
1423 c CHR571 Charcot-Marie-Tooth Disease Type 5 13
1424 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 13
1425 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1426 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1427 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 12
1428 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 12
1429 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
1430 c HYP333 Hyperlipidemia, Combined, 2 11
1431 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 11
1432 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 11
1433 c INT094 Intermediate Severe Salla Disease 10
1434 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1435 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1436 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
1437 c CTR008 Cataract Congenital Autosomal Dominant 8
1438 c SJG003 Sjogren-Larsson-Like Syndrome 7
1439 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1440 FTL050 Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency 7
1441 c SCN046 Secondary Short Bowel Syndrome 6
1442 INF171 Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1443 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
1444 c MYG002 Myoglobinuria Dominant Form 5
1445 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
1446 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
1447 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1448 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 56
1449 MHM001 Mehmo Syndrome 31
1450 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
1451 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
1452 P GLT035 Glutaric Acidemia I 44
1453 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26
1454 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54
1455 CRN295 Carnitine Palmitoyltransferase I Deficiency 53
1456 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
1457 P TRC086 Trichohepatoenteric Syndrome 1 51
1458 P MNN019 Mannosidosis, Beta a, Lysosomal 51
1459 HST006 Histidinemia 45
1460 MTC026 Mitochondrial Myopathy with Lactic Acidosis 29
1461 c TRC078 Trichohepatoenteric Syndrome 2 22
1462 P PLY011 Polycystic Ovary Syndrome 64
1463 FRC011 Fructose Intolerance, Hereditary 60
1464 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
1465 GLY010 Glycine Encephalopathy 56
1466 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 56
1467 CHY002 Chylomicron Retention Disease 55
1468 CRN239 Carnitine Deficiency, Systemic Primary 52
1469 c XNT010 Xanthinuria, Type I 52
1470 ULN003 Ulnar-Mammary Syndrome 50
1471 ENC055 Encephalopathy, Ethylmalonic 48
1472 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 48
1473 c MGL018 Megaloblastic Anemia 1 47
1474 ADP001 Adiposis Dolorosa 45
1475 c PLY105 Polycystic Ovary Syndrome 1 45
1476 GLC011 Galactose Epimerase Deficiency 45
1477 ADN022 Adenylosuccinase Deficiency 38
1478 P HYP769 Hyperlysinemia, Type I 37
1479 FMR004 Fumarase Deficiency 35
1480 c XNT011 Xanthinuria, Type Ii 35
1481 INT088 Intrinsic Factor Deficiency 31
1482 LGH003 Leigh Syndrome, French Canadian Type 29
1483 P HYP658 Hypoplastic Amelogenesis Imperfecta 27
1484 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 24
1485 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 23
1486 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 21
1487 STR067 Stroke, Ischemic 85
1488 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
1489 SCH036 Scheie Syndrome 69
1490 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
1491 SND001 Sandhoff Disease 66
1492 c NMN015 Niemann-Pick Disease, Type C1 65
1493 CYS013 Cystinuria 65
1494 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64
1495 P HYP086 Hypothyroidism 63
1496 PRP001 Propionic Acidemia 63
1497 c MCP001 Mucopolysaccharidosis Iii 63
1498 P GLL020 Gallbladder Disease 63
1499 c CNG006 Congenital Hypothyroidism 63
1500 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
1501 c MCP052 Mucopolysaccharidosis, Type Vi 62
1502 DBT083 Diabetes Mellitus, Permanent Neonatal 62
1503 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 62
1504 P NRN021 Neuronal Ceroid Lipofuscinosis 62
1505 P MLG056 Malignant Hyperthermia 62
1506 P HYP370 Hypokalemic Periodic Paralysis, Type 1 61
1507 c GNG001 Gangliosidosis Gm1 61
1508 c GLY060 Glycogen Storage Disease Ia 61
1509 HYP190 Hypoalphalipoproteinemia, Primary 60
1510 LNN001 Lennox-Gastaut Syndrome 60
1511 NRM019 Neuraminidase Deficiency 60
1512 GST037 Gastroparesis 59
1513 PYR041 Pyruvate Kinase Deficiency of Red Cells 59
1514 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 59
1515 DBN001 Dubin-Johnson Syndrome 58
1516 P FCS002 Fucosidosis 58
1517 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 58
1518 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 57
1519 c MCP004 Mucopolysaccharidosis Iv 57
1520 c INF145 Infantile Liver Failure Syndrome 1 57
1521 c AMY009 Amyloidosis Aa 56
1522 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 56
1523 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
1524 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 56
1525 DBF001 D-Bifunctional Protein Deficiency 56
1526 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 56
1527 PPL049 Papillon-Lefevre Syndrome 55
1528 P LMB006 Limb-Girdle Muscular Dystrophy 55
1529 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 55
1530 c GLY004 Glycogen Storage Disease V 55
1531 CYS010 Cystinosis 55
1532 CNV004 Canavan Disease 55
1533 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 55
1534 HYP052 Hyperkalemic Periodic Paralysis 54
1535 RNL051 Renal Cysts and Diabetes Syndrome 54
1536 HMC014 Homocysteinemia 54
1537 CLC001 Calciphylaxis 53
1538 PRN011 Pernicious Anemia 53
1539 FML026 Familial Lipoprotein Lipase Deficiency 53
1540 c PTT057 Pituitary Adenoma 4, Acth-Secreting 53
1541 P FML012 Familial Partial Lipodystrophy 52
1542 HPT025 Hepatic Lipase Deficiency 52
1543 P ACT010 Acth-Secreting Pituitary Adenoma 52
1544 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1545 CYS036 Cystinosis, Nephropathic 52
1546 OCC006 Occipital Horn Syndrome 52
1547 NPH003 Nephrocalcinosis 51
1548 GYR004 Gyrate Atrophy of Choroid and Retina 51
1549 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 51
1550 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
1551 c GLY011 Glycogen Storage Disease Vii 51
1552 c GLL024 Gallbladder Disease 1 51
1553 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 51
1554 PYC001 Pycnodysostosis 50
1555 MTC027 Mitochondrial Trifunctional Protein Deficiency 50
1556 c DMN023 Diamond-Blackfan Anemia 1 50
1557 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 50
1558 P KRN004 Kernicterus 50
1559 c GLY005 Glycogen Storage Disease Vi 49
1560 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1561 c HYP740 Hyperlipoproteinemia, Type V 49
1562 c ERL057 Early Infantile Epileptic Encephalopathy 49
1563 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
1564 c HYP739 Hyperlipoproteinemia, Type Iv 49
1565 P D2H002 D-2-Hydroxyglutaric Aciduria 1 49
1566 P OCL001 Ocular Albinism 49
1567 HYP781 Hypoascorbemia 48
1568 PRP056 Porphyria, Acute Hepatic 48
1569 c CRB193 Cerebral Amyloid Angiopathy, App-Related 48
1570 P SLL003 Salla Disease 48
1571 c CHR095 Chronic Progressive External Ophthalmoplegia 47
1572 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1573 c MCL046 Mucolipidosis Iii Alpha/beta 47
1574 ALB002 Albinism 47
1575 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 47
1576 c HRM017 Hermansky-Pudlak Syndrome 2 46
1577 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
1578 P PLM085 Pulmonary Hemosiderosis 46
1579 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
1580 c EXS019 Exostoses, Multiple, Type I 46
1581 P DWL001 Dowling-Degos Disease 46
1582 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 46
1583 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
1584 CRB150 Cerebral Creatine Deficiency Syndrome 2 46
1585 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
1586 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 46
1587 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 46
1588 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 45
1589 P RNL045 Renal Tubular Acidosis, Distal 45
1590 c MCP044 Mucopolysaccharidosis, Type Iiib 45
1591 IMN001 Iminoglycinuria 45
1592 BRB001 Beriberi 45
1593 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 45
1594 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 45
1595 GLC022 Glucose/galactose Malabsorption 44
1596 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 44
1597 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44
1598 c LPD040 Lipodystrophy, Familial Partial, Type 1 44
1599 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 44
1600 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
1601 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1602 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43
1603 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 43
1604 GLY015 Glycine N-Methyltransferase Deficiency 43
1605 P PNT019 Pontocerebellar Hypoplasia 43
1606 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 43
1607 CYS019 Cystathioninuria 43
1608 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 43
1609 P MNT319 Mental Retardation, Autosomal Dominant 20 43
1610 FML036 Familial Periodic Paralysis 42
1611 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 42
1612 GLT018 Glut1 Deficiency Syndrome 1 42
1613 P CNG436 Congenital Disorder of Deglycosylation 42
1614 c GM1004 Gm1-Gangliosidosis, Type I 42
1615 c HYP794 Hyperoxaluria, Primary, Type I 42
1616 c FML015 Familial Nephrotic Syndrome 41
1617 c MNT143 Mental Retardation, Autosomal Dominant 13 41
1618 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
1619 c PRK090 Parkinson Disease 3, Autosomal Dominant 40
1620 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 40
1621 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 40
1622 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 40
1623 c ATS295 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 40
1624 c MLG147 Malignant Hyperthermia 1 40
1625 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 40
1626 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 40
1627 ACT209 Acatalasemia 40
1628 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 39
1629 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39
1630 c ATS296 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 39
1631 c PNT010 Pontocerebellar Hypoplasia Type 1 39
1632 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 39
1633 c MYG007 Myoglobinuria, Recurrent 39
1634 MLY001 Molybdenum Cofactor Deficiency 39
1635 P 2HY001 2-Hydroxyglutaric Aciduria 39
1636 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1637 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38
1638 APL017 Apolipoprotein C-Ii Deficiency 38
1639 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 38
1640 DCR008 Dicarboxylic Aminoaciduria 38
1641 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 38
1642 c GM1005 Gm1-Gangliosidosis, Type Ii 37
1643 HMC038 Hemochromatosis, Neonatal 37
1644 c HYP534 Hypomagnesemia 3, Renal 37
1645 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 37
1646 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 37
1647 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37
1648 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
1649 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 37
1650 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 37
1651 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
1652 c NPH070 Nephrotic Syndrome, Type 6 36
1653 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 36
1654 SCR037 Sucrase-Isomaltase Deficiency, Congenital 36
1655 P PRR025 Perrault Syndrome 36
1656 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 35
1657 LTH002 Lathosterolosis 35
1658 WRN004 Wrinkly Skin Syndrome 35
1659 c MCP045 Mucopolysaccharidosis, Type Iiic 35
1660 c PRK085 Parkinson Disease 1, Autosomal Dominant 35
1661 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 35
1662 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 35
1663 c PNT045 Pontocerebellar Hypoplasia, Type 1a 35
1664 P HYP210 Hypomagnesemia 2, Renal 35
1665 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 34
1666 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 34
1667 P HYP111 Hyperprolinemia 34
1668 c SCH069 Schindler Disease, Type I 34
1669 c PRR020 Perrault Syndrome 1 33
1670 c HYP602 Hyperoxaluria, Primary, Type Ii 33
1671 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 33
1672 HMM002 Haim-Munk Syndrome 33
1673 SCH030 Schneckenbecken Dysplasia 32
1674 c MCP048 Mucopolysaccharidosis, Type Ivb 32
1675 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
1676 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
1677 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 32
1678 c MCP046 Mucopolysaccharidosis, Type Iiid 32
1679 CKS001 Ck Syndrome 32
1680 c HYP699 Hyperekplexia 1 32
1681 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 32
1682 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
1683 c PNT035 Pontocerebellar Hypoplasia, Type 1c 31
1684 c CNT101 Central Congenital Hypothyroidism 31
1685 GLY058 Glycogen Storage Disease 0, Liver 30
1686 c GM1006 Gm1-Gangliosidosis, Type Iii 30
1687 c MNT185 Mental Retardation, Autosomal Dominant 7 30
1688 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
1689 NST002 Nestor-Guillermo Progeria Syndrome 29
1690 IMM080 Immunodeficiency 23 29
1691 c NPH072 Nephrotic Syndrome, Type 7 29
1692 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
1693 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
1694 c MNT212 Mental Retardation, Autosomal Dominant 26 29
1695 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
1696 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
1697 c PNT046 Pontocerebellar Hypoplasia, Type 5 29
1698 CMB026 Combined Oxidative Phosphorylation Deficiency 12 29
1699 c CHR135 Charcot-Marie-Tooth Disease Type 2a 28
1700 c MNT246 Mental Retardation, Autosomal Dominant 38 28
1701 c MNT158 Mental Retardation, Autosomal Dominant 22 28
1702 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 28
1703 c MNT241 Mental Retardation, Autosomal Dominant 32 28
1704 c MNT145 Mental Retardation, Autosomal Recessive 5 28
1705 c MNT210 Mental Retardation, Autosomal Recessive 42 28
1706 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 28
1707 CRD231 Cardiomyopathy, Infantile Histiocytoid 27
1708 c LVR030 Liver Failure, Infantile, Transient 27
1709 DFN350 Deafness, Aminoglycoside-Induced 27
1710 c MNT155 Mental Retardation, Autosomal Recessive 2 27
1711 HYD030 Hydroxykynureninuria 27
1712 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 27
1713 c MNT270 Mental Retardation, Autosomal Recessive 53 27
1714 c MNT322 Mental Retardation, Autosomal Dominant 27 27
1715 c MNT157 Mental Retardation, Autosomal Dominant 18 27
1716 c MNT280 Mental Retardation, Autosomal Dominant 43 27
1717 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1718 c MNT222 Mental Retardation, Autosomal Dominant 29 27
1719 c MNT287 Mental Retardation, Autosomal Recessive 57 26
1720 5XP001 5-Oxoprolinase Deficiency 26
1721 c MNT325 Mental Retardation, Autosomal Recessive 61 26
1722 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 26
1723 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
1724 c MNT166 Mental Retardation, Autosomal Recessive 39 26
1725 c MNT150 Mental Retardation, Autosomal Recessive 15 26
1726 GLT011 Glutamine Deficiency, Congenital 26
1727 c MNT242 Mental Retardation, Autosomal Dominant 40 26
1728 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1729 c MNT214 Mental Retardation, Autosomal Dominant 24 26
1730 c MNT176 Mental Retardation, Autosomal Recessive 38 25
1731 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 25
1732 c MNT219 Mental Retardation, Autosomal Dominant 30 25
1733 c MNT226 Mental Retardation, Autosomal Dominant 31 25
1734 CMB011 Combined Malonic and Methylmalonic Aciduria 25
1735 CYS045 Cystinosis, Adult Nonnephropathic 25
1736 c MNT244 Mental Retardation, Autosomal Recessive 49 25
1737 c EXS020 Exostoses, Multiple, Type Ii 25
1738 c MNT272 Mental Retardation, Autosomal Dominant 41 25
1739 c MNT273 Mental Retardation, Autosomal Dominant 44 25
1740 c CTR113 Cataract 11, Multiple Types 25
1741 c MNT238 Mental Retardation, Autosomal Dominant 34 25
1742 c MNT321 Mental Retardation, Autosomal Recessive 37 25
1743 c MNT239 Mental Retardation, Autosomal Dominant 35 25
1744 c SPS208 Spastic Ataxia 4, Autosomal Recessive 25
1745 c MNT211 Mental Retardation, Autosomal Dominant 23 25
1746 c MNT262 Mental Retardation, Autosomal Dominant 42 25
1747 c MNT179 Mental Retardation, Autosomal Dominant 21 25
1748 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 24
1749 c MNT177 Mental Retardation, Autosomal Recessive 27 24
1750 c MNT245 Mental Retardation, Autosomal Dominant 36 24
1751 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 24
1752 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
1753 c MNT324 Mental Retardation, Autosomal Dominant 49 24
1754 c MNT181 Mental Retardation, Autosomal Recessive 35 24
1755 c MNT183 Mental Retardation, Autosomal Recessive 36 24
1756 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
1757 c MNT323 Mental Retardation, Autosomal Dominant 48 24
1758 c MNT236 Mental Retardation, Autosomal Dominant 39 24
1759 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 24
1760 c MNT159 Mental Retardation, Autosomal Dominant 19 24
1761 c MNT227 Mental Retardation, Autosomal Recessive 46 24
1762 c MNT221 Mental Retardation, Autosomal Recessive 44 24
1763 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
1764 c MNT184 Mental Retardation, Autosomal Dominant 11 24
1765 ART103 Arthrogryposis, Mental Retardation, and Seizures 24
1766 c MNT285 Mental Retardation, Autosomal Recessive 58 24
1767 c GLY059 Glycogen Storage Disease Xiii 23
1768 GBM001 Gaba Aminotransferase Deficiency 23
1769 c MNT240 Mental Retardation, Autosomal Dominant 33 23
1770 c MNT234 Mental Retardation, Autosomal Recessive 48 23
1771 c MNT328 Mental Retardation, Autosomal Dominant 52 23
1772 GLT014 Glutathionuria 23
1773 c MLG148 Malignant Hyperthermia 2 23
1774 P PRM016 Primary Optic Atrophy 23
1775 c MLG149 Malignant Hyperthermia 3 23
1776 c MNT154 Mental Retardation, Autosomal Recessive 14 22
1777 c MNT330 Mental Retardation, Autosomal Dominant 54 22
1778 c MNT327 Mental Retardation, Autosomal Dominant 51 22
1779 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1780 c OPT060 Optic Atrophy 8 22
1781 c MNT215 Mental Retardation, Autosomal Recessive 43 22
1782 c MNT162 Mental Retardation, Autosomal Recessive 24 22
1783 c MNT286 Mental Retardation, Autosomal Dominant 45 22
1784 c MNT329 Mental Retardation, Autosomal Dominant 53 22
1785 c INF138 Infantile Liver Failure Syndrome 2 22
1786 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
1787 c MNT225 Mental Retardation, Autosomal Recessive 47 22
1788 c MNT326 Mental Retardation, Autosomal Dominant 50 22
1789 c HYP163 Hyperlipidemia Type 3 22
1790 c ATP003 Atp6v0a2-Related Cutis Laxa 22
1791 c MNT220 Mental Retardation, Autosomal Recessive 45 22
1792 c MNT337 Mental Retardation, Autosomal Dominant 58 22
1793 c MNT186 Mental Retardation, Autosomal Dominant 10 22
1794 c PRK008 Parkinson Disease Type 9 22
1795 c MNT172 Mental Retardation, Autosomal Recessive 25 22
1796 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 22
1797 c MNT263 Mental Retardation, Autosomal Recessive 51 22
1798 c MNT165 Mental Retardation, Autosomal Recessive 28 22
1799 c MLG150 Malignant Hyperthermia 4 22
1800 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1801 c MNT278 Mental Retardation, Autosomal Dominant 46 21
1802 c MNT151 Mental Retardation, Autosomal Recessive 18 21
1803 HYP187 Hypertryptophanemia 21
1804 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 21
1805 c MNT163 Mental Retardation, Autosomal Recessive 30 21
1806 c MNT182 Mental Retardation, Autosomal Recessive 19 21
1807 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
1808 c MNT167 Mental Retardation, Autosomal Recessive 16 21
1809 c MNT336 Mental Retardation, Autosomal Recessive 64 21
1810 c MNT264 Mental Retardation, Autosomal Recessive 52 21
1811 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
1812 c MNT170 Mental Retardation, Autosomal Recessive 23 21
1813 c MNT180 Mental Retardation, Autosomal Recessive 33 21
1814 c MLG151 Malignant Hyperthermia 5 21
1815 c OPT065 Optic Atrophy 9 20
1816 c MNT277 Mental Retardation, Autosomal Recessive 54 20
1817 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 20
1818 HRL006 Harel-Yoon Syndrome 20
1819 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20
1820 c MNT243 Mental Retardation, Autosomal Recessive 50 20
1821 c MNT281 Mental Retardation, Autosomal Recessive 59 20
1822 c MNT161 Mental Retardation, Autosomal Recessive 29 20
1823 c GLY006 Glycogen Storage Disease Viii 20
1824 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 20
1825 c MNT335 Mental Retardation, Autosomal Recessive 63 20
1826 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
1827 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
1828 c MNT284 Mental Retardation, Autosomal Recessive 56 19
1829 CPP001 Copper Deficiency, Familial Benign 19
1830 c HYP445 Hypomagnesemia 6, Renal 19
1831 c MNT160 Mental Retardation, Autosomal Recessive 31 19
1832 c PLL014 Pellagra-Like Syndrome 19
1833 c MNT338 Mental Retardation, Autosomal Recessive 65 18
1834 c MLG152 Malignant Hyperthermia 6 17
1835 c MNT332 Mental Retardation, Autosomal Dominant 56 17
1836 MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 17
1837 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
1838 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
1839 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
1840 FRL002 Froelich Syndrome 14
1841 c OPT059 Optic Atrophy 4 14
1842 c ATS394 Autosomal Dominant Mental Retardation 55 10
1843 c RNL048 Renal Tubular Acidosis, Distal, Type 3 10
1844 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1845 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1846 c RNL049 Renal Tubular Acidosis, Distal, Type 4 5
1847 CNN003 Conn's Syndrome 73
1848 ACR006 Aceruloplasminemia 70
1849 ALK013 Alkaptonuria 58
1850 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 56
1851 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1852 AMN007 Aminoacylase 1 Deficiency 37
1853 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
1854 BLD065 Blue Diaper Syndrome 19
1855 P HYP607 Hypercholesterolemia, Familial 81
1856 WLS001 Wilson Disease 70
1857 P MTC003 Metachromatic Leukodystrophy 70
1858 LGH007 Leigh Syndrome 69
1859 ABT001 Abetalipoproteinemia 67
1860 P LBR001 Leber Congenital Amaurosis 65
1861 c LPM012 Lipomatosis, Multiple 64
1862 HYP020 Hyperprolactinemia 64
1863 P HRM001 Hermansky-Pudlak Syndrome 64
1864 MNK001 Menkes Disease 64
1865 P CRN037 Craniosynostosis 64
1866 P CHR071 Charcot-Marie-Tooth Disease 62
1867 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
1868 WLK001 Walker-Warburg Syndrome 60
1869 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
1870 LBR002 Leber Hereditary Optic Neuropathy 59
1871 c GLY003 Glycogen Storage Disease Iii 59
1872 GLB001 Gilbert Syndrome 58
1873 P HYP097 Hyperekplexia 58
1874 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
1875 c NMN013 Niemann-Pick Disease, Type a 57
1876 MVL001 Mevalonic Aciduria 57
1877 c ALB021 Albinism, Oculocutaneous, Type Ii 57
1878 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 57
1879 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 56
1880 c LPD015 Lipodystrophy, Familial Partial, Type 2 56
1881 BRN045 Brunner Syndrome 55
1882 DRR016 Diarrhea 2, with Microvillus Atrophy 55
1883 ALB001 Albright's Hereditary Osteodystrophy 53
1884 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 53
1885 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 53
1886 c ALB009 Albinism, Oculocutaneous, Type Ia 53
1887 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1888 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
1889 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 53
1890 WRN002 Wernicke-Korsakoff Syndrome 53
1891 RNL024 Renal Glucosuria 53
1892 PRN001 Purine Nucleoside Phosphorylase Deficiency 52
1893 P HMC002 Homocystinuria 52
1894 ARG007 Argininemia 51
1895 P PRM001 Primary Cutaneous Amyloidosis 51
1896 SBL008 Sea-Blue Histiocyte Disease 51
1897 PSD014 Pseudopseudohypoparathyroidism 51
1898 c OPT053 Optic Atrophy 1 51
1899 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 50
1900 c ALB010 Albinism, Oculocutaneous, Type Ib 49
1901 c NMN014 Niemann-Pick Disease, Type C2 49
1902 P FML068 Familial Hypocalciuric Hypercalcemia 48
1903 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48
1904 GLT007 Glutathione Synthetase Deficiency 45
1905 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 45
1906 CRB151 Cerebral Creatine Deficiency Syndrome 1 45
1907 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 45
1908 P AMY084 Amyloidosis, Finnish Type 45
1909 c TYR013 Tyrosinemia, Type Ii 45
1910 MSC077 Muscle Eye Brain Disease 45
1911 GCH018 Gaucher Disease, Perinatal Lethal 45
1912 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 44
1913 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 44
1914 c MTC054 Mitochondrial Dna Depletion Syndrome 7 44
1915 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1916 PRL019 Prolidase Deficiency 43
1917 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 43
1918 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42
1919 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
1920 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
1921 c CRN278 Craniosynostosis 1 41
1922 PYR037 Pyruvate Carboxylase Deficiency 41
1923 PRM237 Primary Hypomagnesemia 40
1924 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 40
1925 P CTR177 Citrullinemia, Type Ii, Adult-Onset 39
1926 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
1927 PLV001 Pelvic Lipomatosis 36
1928 BJR001 Bjornstad Syndrome 36
1929 INF129 Infantile Cerebellar-Retinal Degeneration 35
1930 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
1931 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
1932 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 34
1933 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
1934 c OPT068 Optic Atrophy 3, Autosomal Dominant 33
1935 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 32
1936 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1937 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 31
1938 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
1939 c CRN277 Craniosynostosis 2 29
1940 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 29
1941 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 28
1942 c CRN281 Craniosynostosis 7 27
1943 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 27
1944 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
1945 c MNT282 Mental Retardation, Autosomal Recessive 55 24
1946 c CRN221 Craniosynostosis 4 23
1947 c FML249 Familial Amyloidosis, Finnish Type 22
1948 c CRN256 Craniosynostosis 6 22
1949 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1950 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
1951 c CRN217 Craniosynostosis 3 21
1952 c MNT334 Mental Retardation, Autosomal Dominant 57 21
1953 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 21
1954 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
1955 c CRN216 Craniosynostosis 5 19
1956 c FCS008 Fucosidosis Type 1 10
1957 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
1958 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 9
1959 P HYP802 Hypocalcemia, Autosomal Dominant 1 67
1960 CHD001 Chediak-Higashi Syndrome 68
1961 P PRP003 Porphyria Cutanea Tarda 67
1962 P MPL001 Maple Syrup Urine Disease 66
1963 P SPN046 Spinal Muscular Atrophy 66
1964 c ANM038 Anemia, Autoimmune Hemolytic 61
1965 KRN002 Kearns-Sayre Syndrome 61
1966 P CRG003 Crigler-Najjar Syndrome, Type I 61
1967 LPD016 Lipoid Proteinosis of Urbach and Wiethe 61
1968 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
1969 c ALM001 Al Amyloidosis 60
1970 MYC079 Myoclonic Epilepsy of Lafora 59
1971 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 58
1972 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1973 FNC009 Fanconi-Bickel Syndrome 55
1974 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 55
1975 P SJG002 Sjogren-Larsson Syndrome 53
1976 c GLY007 Glycogen Storage Disease Iv 53
1977 ATR002 Atransferrinemia 52
1978 c SPN393 Spinal Muscular Atrophy, Type I 50
1979 AMY082 Amyloidosis, Familial Visceral 50
1980 c SPN293 Spinocerebellar Ataxia 12 49
1981 c HRD039 Hereditary Amyloidosis 49
1982 c SPN312 Spinocerebellar Ataxia 14 47
1983 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
1984 c SPN100 Spinocerebellar Ataxia 27 45
1985 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
1986 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 44
1987 c SPN103 Spinocerebellar Ataxia 31 44
1988 P SDR003 Sideroblastic Anemia 44
1989 c SPN265 Spinocerebellar Ataxia 36 43
1990 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 42
1991 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 42
1992 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 42
1993 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 39
1994 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 38
1995 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1996 c SPN299 Spinocerebellar Ataxia 20 36
1997 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1998 c SPN247 Spinocerebellar Ataxia Type 19/22 36
1999 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 36
2000 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
2001 c SPN266 Spinocerebellar Ataxia 35 34
2002 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
2003 c PSD104 Pseudohypoparathyroidism, Type Ii 33
2004 c SPN383 Spinocerebellar Ataxia 42 33
2005 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
2006 c SPN095 Spinocerebellar Ataxia 19 32
2007 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 32
2008 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
2009 c SPN099 Spinocerebellar Ataxia 26 31
2010 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
2011 P HRD084 Hereditary Cerebral Amyloid Angiopathy 30
2012 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
2013 c SPN098 Spinocerebellar Ataxia 25 29
2014 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
2015 c SPN286 Spinocerebellar Ataxia 40 28
2016 c SPN372 Spinocerebellar Ataxia 43 27
2017 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 26
2018 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 25
2019 c OPT064 Optic Atrophy 11 24
2020 c SPN102 Spinocerebellar Ataxia 30 24
2021 c SPN420 Spinocerebellar Ataxia 46 23
2022 c OPT023 Optic Atrophy 2 22
2023 c SPN107 Spinocerebellar Ataxia 9 19
2024 c OPT025 Optic Atrophy 6 19
2025 c OPT024 Optic Atrophy 5 19
2026 VSC044 Visceral Myopathy 56
2027 c TYR012 Tyrosinemia, Type I 54
2028 c HRM005 Hermansky-Pudlak Syndrome 1 53
2029 ARM001 Aromatase Deficiency 52
2030 c HRM006 Hermansky-Pudlak Syndrome 3 51
2031 c HRM008 Hermansky-Pudlak Syndrome 5 50
2032 c HRM009 Hermansky-Pudlak Syndrome 6 44
2033 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
2034 c HRM007 Hermansky-Pudlak Syndrome 4 36
2035 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
2036 P ENC018 Encephalopathy 62
2037 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
2038 P NRD007 Neurodegeneration with Brain Iron Accumulation 48
2039 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 45
2040 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
2041 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
2042 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 41
2043 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
2044 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
2045 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 39
2046 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
2047 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 39
2048 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
2049 c SPS021 Spastic Paraplegia 10 32
2050 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 31
2051 c SPS036 Spastic Paraplegia 3 30
2052 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
2053 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 29
2054 c SPS027 Spastic Paraplegia 17 25
2055 c SPS013 Spastic Paraplegia 8 24
2056 c SPS023 Spastic Paraplegia 13 21
2057 c SPS028 Spastic Paraplegia 18 20
2058 c SPS034 Spastic Paraplegia 26 20
2059 c SPS080 Spastic Paraplegia 51 20
2060 c SPS029 Spastic Paraplegia 19 19
2061 c SPS032 Spastic Paraplegia 24 19
2062 c SPS035 Spastic Paraplegia 29 19
2063 c SPS033 Spastic Paraplegia 25 19
2064 c SPS022 Spastic Paraplegia 12 18
2065 c SPS161 Spastic Paraplegia 32 18
2066 c SPS026 Spastic Paraplegia 16 18
2067 c SPS024 Spastic Paraplegia 14 17
2068 c SPS040 Spastic Paraplegia 5b 15
2069 KRT002 Keratomalacia 56
2070 c SPN291 Spinocerebellar Ataxia 7 55
2071 c SPN309 Spinocerebellar Ataxia 6 50
2072 c SPN314 Spinocerebellar Ataxia 10 50
2073 c SPN296 Spinocerebellar Ataxia 17 47
2074 c SPN305 Spinocerebellar Ataxia 11 44
2075 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 42
2076 c SPN106 Spinocerebellar Ataxia 5 41
2077 c SPN290 Spinocerebellar Ataxia 15 41
2078 c SPN283 Spinocerebellar Ataxia 37 40
2079 c SPN304 Spinocerebellar Ataxia 8 38
2080 c PSD117 Pseudohypoparathyroidism, Type Ic 37
2081 c SPN094 Spinocerebellar Ataxia 18 37
2082 c SPN097 Spinocerebellar Ataxia 23 36
2083 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
2084 c SPN105 Spinocerebellar Ataxia 4 33
2085 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
2086 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 31
2087 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
2088 c SPN104 Spinocerebellar Ataxia 34 29
2089 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 27
2090 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 26
2091 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21
2092 P CTS001 Cutis Laxa 58
2093 c MTC010 Mitochondrial Dna Depletion Syndrome 37
2094 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
2095 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
2096 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 27
2097 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
2098 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
2099 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
2100 c LTB003 Ltbp4-Related Cutis Laxa 18
2101 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 18
2102 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 59
2103 P SPN301 Spinocerebellar Ataxia 2 59
2104 c SPN294 Spinocerebellar Ataxia 1 57
2105 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 54
2106 c SPN311 Spinocerebellar Ataxia 13 45
2107 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
2108 c SPN101 Spinocerebellar Ataxia 29 33
2109 c SPN096 Spinocerebellar Ataxia 21 32
2110 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
2111 c SPS039 Spastic Paraplegia 5a 31
2112 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 29
2113 c SPS091 Spastic Paraplegia 4 29
2114 c SPS025 Spastic Paraplegia 15 29
2115 c SPS041 Spastic Paraplegia 6 22
2116 c SPS037 Spastic Paraplegia 31 22
2117 c SPS038 Spastic Paraplegia 39 17
2118 c CTS045 Cutis Laxa, Autosomal Dominant 1 48
2119 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 34
2120 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 42
2121 c SPS031 Spastic Paraplegia 23 32
2122 c SPS092 Spastic Paraplegia 11 30
2123 c ATS155 Autosomal Dominant Spastic Paraplegia Type 9 27
2124 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
2125 c SPS020 Spastic Paraplegia 1 25
2126 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
2127 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
2128 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
2129 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
2130 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
2131 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26
2132 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
2133 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
2134 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
2135 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
2136 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
2137 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
2138 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 18
2139 c HRD010 Hereditary Spastic Paraplegia 69
2140 P OCL002 Oculocutaneous Albinism 58
2141 c SPS042 Spastic Paraplegia 9 21
2142 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 56
2143 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
2144 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
2145 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
2146 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
2147 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
2148 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
2149 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
2150 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32



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