Metabolic Diseases Category (1918 diseases)


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

# Family MCID Name MIFTS
1 BDY004 Body Mass Index Quantitative Trait Locus 11 68
2 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 48
3 c INH020 Inherited Metabolic Disorder 48
4 CRB025 Carbohydrate Metabolic Disorder 50
5 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 59
6 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 13
7 NTR005 Nutritional Deficiency Disease 43
8 LPD008 Lipid Metabolism Disorder 58
9 LPT006 Leptin Receptor Deficiency 38
10 MMS001 Momo Syndrome 30
11 P DRG021 Drug Metabolism, Poor, Cyp2c19-Related 27
12 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 25
13 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 10
14 AMN002 Amino Acid Metabolic Disorder 47
15 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
16 LPT014 Leptin Deficiency or Dysfunction 37
17 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 34
18 HYD021 Hydrocephalus Obesity Hypogonadism 15
19 CHN016 Cohen Syndrome 47
20 P THP004 Thiopurines, Poor Metabolism of, 1 34
21 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 31
22 CNG376 Congenital Leptin Deficiency 20
23 BDY020 Body Mass Index Quantitative Trait Locus 19 25
24 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
25 MRB003 Morbid Obesity 60
26 URC002 Urea Cycle Disorder 50
27 PHS001 Phosphorus Metabolism Disease 41
28 BDY019 Body Mass Index Quantitative Trait Locus 18 27
29 BDY005 Body Mass Index Quantitative Trait Locus 9 27
30 BDY015 Body Mass Index Quantitative Trait Locus 12 25
31 BDY017 Body Mass Index Quantitative Trait Locus 14 25
32 BDY010 Body Mass Index Quantitative Trait Locus 4 25
33 BDY006 Body Mass Index Quantitative Trait Locus 8 23
34 BDY012 Body Mass Index Quantitative Trait Locus 7 23
35 INB001 Inborn Amino Acid Metabolism Disorder 16
36 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
37 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 28
38 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 25
39 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 25
40 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 22
41 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 22
42 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 22
43 P PRP029 Porphyria 62
44 c ACT078 Acute Porphyria 47
45 SRF006 Surfactant Dysfunction 36
46 MNR003 Mineral Metabolism Disease 34
47 MTL002 Metal Metabolism Disorder 30
48 PRP098 Proprotein Convertase 1/3 Deficiency 29
49 PYR035 Pyrimidine Metabolic Disorder 23
50 MRB006 Morbid Obesity and Spermatogenic Failure 20
51 THY064 Thyroid Hormone Metabolism, Abnormal 19
52 IRN002 Iron Metabolism Disease 55
53 GLC008 Glucose Metabolism Disease 52
54 CHP002 Chops Syndrome 31
55 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 26
56 MTB004 Metabolic Acidosis 48
57 OBS037 Obesity-Hypoventilation Syndrome 46
58 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 45
59 ORG002 Organic Acidemia 38
60 RHH001 Rohhad 27
61 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22
62 MTC005 Mitochondrial Metabolism Disease 44
63 MTH021 Methylmalonic Acidemia with Homocystinuria 34
64 MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29
65 STR018 Steroid Inherited Metabolic Disorder 27
66 PRN024 Purine-Pyrimidine Metabolic Disorder 25
67 HST007 Histidine Metabolism Disease 23
68 RTN173 Retinal Dystrophy and Obesity 20
69 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 20
70 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 19
71 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
72 KWS001 Kwashiorkor 42
73 CLP006 Clopidogrel Resistance 42
74 MRS001 Marasmus 39
75 BDY011 Body Mass Index Quantitative Trait Locus 10 24
76 DSR002 Disorders of Intracellular Cobalamin Metabolism 19
77 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
78 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
79 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 10
80 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
81 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 3
82 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
83 LYS002 Lysosomal Storage Disease 56
84 BLR008 Bilirubin Metabolic Disorder 43
85 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 25
86 OBS015 Obesity, Hyperphagia, and Developmental Delay 24
87 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 18
88 P ACQ009 Acquired Metabolic Disease 32
89 PLS010 Plasma Protein Metabolism Disease 26
90 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21
91 VTM003 Vitamin Metabolic Disorder 20
92 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 19
93 DVL020 Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features 14
94 c THP005 Thiopurines, Poor Metabolism of, 2 12
95 P MGL001 Megaloblastic Anemia 51
96 ACT149 Acetaminophen Metabolism 38
97 c DRG020 Drug Metabolism, Poor, Cyp2d6-Related 23
98 ANT078 Antipyrine Metabolism 22
99 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
100 ERY030 Erythrocyte Lactate Transporter Defect 18
101 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
102 ZNC006 Zinc, Elevated Plasma 17
103 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
104 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
105 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 14
106 NTR002 Nutritional Optic Neuropathy 14
107 OBS060 Obesity Due to Sim1 Deficiency 12
108 SHR107 Short Stature-Obesity Syndrome 12
109 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
110 XLN208 X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome 9
111 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
112 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 8
113 CHR069 Chronic Metabolic Polyneuropathy 4
114 HYL006 Hyaluronan Metabolism, Defect in 3
115 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
116 P AMY004 Amyloidosis 68
117 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
118 c HRD010 Hereditary Spastic Paraplegia 67
119 c GLY008 Glycogen Storage Disease Ii 64
120 P DBT009 Diabetes Mellitus 64
121 HYP066 Hyperglycemia 63
122 P ENC018 Encephalopathy 62
123 P CTS001 Cutis Laxa 62
124 P HML002 Hemolytic Anemia 62
125 HYP056 Hypoglycemia 62
126 P GLY013 Glycogen Storage Disease 61
127 GST033 Gestational Diabetes 60
128 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
129 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 59
130 c ANM038 Anemia, Autoimmune Hemolytic 59
131 P OCL002 Oculocutaneous Albinism 58
132 c SPN294 Spinocerebellar Ataxia 1 58
133 c LPM012 Lipomatosis, Multiple 58
134 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57
135 c GLY060 Glycogen Storage Disease Ia 57
136 c ALM001 Al Amyloidosis 57
137 GLC003 Glucose Intolerance 56
138 HYP060 Hyperinsulinism 56
139 P SPN301 Spinocerebellar Ataxia 2 56
140 IRN001 Iron Deficiency Anemia 55
141 c GLY003 Glycogen Storage Disease Iii 55
142 P HYP050 Hyperinsulinemic Hypoglycemia 54
143 P MTC133 Mitochondrial Myopathy 54
144 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
145 c GLY004 Glycogen Storage Disease V 54
146 P INF016 Infantile Epileptic Encephalopathy 54
147 c SPN291 Spinocerebellar Ataxia 7 53
148 c AMY009 Amyloidosis Aa 53
149 MCR004 Macroglobulinemia 53
150 P PRM002 Primary Hyperoxaluria 53
151 HYP005 Hypokalemia 53
152 XNT003 Xanthomatosis 53
153 OVR063 Overnutrition 53
154 DBT084 Diabetes Mellitus, Ketosis-Prone 52
155 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
156 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
157 c MCP043 Mucopolysaccharidosis, Type Iiia 52
158 c GLY007 Glycogen Storage Disease Iv 51
159 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
160 LPD009 Lipid Storage Disease 51
161 CLC006 Calcinosis 51
162 PRT038 Protein-Energy Malnutrition 51
163 c GLY005 Glycogen Storage Disease Vi 51
164 P NGH001 Night Blindness 51
165 P LCT001 Lactic Acidosis 50
166 P LPM005 Lipomatosis 50
167 P MCP040 Mucopolysaccharidosis-Plus Syndrome 50
168 c SPN309 Spinocerebellar Ataxia 6 49
169 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 48
170 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 48
171 c SPN293 Spinocerebellar Ataxia 12 48
172 P TYR004 Tyrosinemia 48
173 c HRD039 Hereditary Amyloidosis 48
174 HYP025 Hyperphosphatemia 48
175 c GLY011 Glycogen Storage Disease Vii 48
176 P NNT009 Neonatal Diabetes Mellitus 48
177 P LCT002 Lactose Intolerance 47
178 P HYP058 Hypervitaminosis a 47
179 c SPN314 Spinocerebellar Ataxia 10 47
180 VTM002 Vitamin B12 Deficiency 47
181 P OCL001 Ocular Albinism 46
182 TRN022 Transcobalamin Ii Deficiency 46
183 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 46
184 c SPN312 Spinocerebellar Ataxia 14 46
185 c SPN296 Spinocerebellar Ataxia 17 46
186 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
187 HYP017 Hypophosphatemia 46
188 c CNG027 Congenital Hemolytic Anemia 46
189 HYP347 Hypotonia-Cystinuria Syndrome 46
190 WRN003 Wernicke Encephalopathy 45
191 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
192 PRD004 Prediabetes Syndrome 45
193 c SPN100 Spinocerebellar Ataxia 27 45
194 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
195 LPP002 Lipoprotein Glomerulopathy 44
196 c MCP044 Mucopolysaccharidosis, Type Iiib 44
197 PRX001 Peroxisomal Disease 44
198 c SPN311 Spinocerebellar Ataxia 13 44
199 c MCP047 Mucopolysaccharidosis, Type Iva 44
200 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 44
201 P MNN018 Mannosidosis 43
202 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43
203 P MTC004 Mitochondrial Encephalomyopathy 43
204 c SPN305 Spinocerebellar Ataxia 11 43
205 c CHR095 Chronic Progressive External Ophthalmoplegia 43
206 c XNT010 Xanthinuria, Type I 43
207 CLS049 Classic Phenylketonuria 42
208 PRP056 Porphyria, Acute Hepatic 42
209 c GM1004 Gm1-Gangliosidosis, Type I 42
210 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
211 c SPN265 Spinocerebellar Ataxia 36 42
212 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
213 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
214 ERL001 Early Myoclonic Encephalopathy 42
215 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
216 c HYP057 Hypervitaminosis D 41
217 c HYP794 Hyperoxaluria, Primary, Type I 41
218 RBF001 Riboflavin Deficiency 41
219 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
220 ART002 Arts Syndrome 41
221 c SPN330 Spondylocostal Dysostosis 5 40
222 c SPN290 Spinocerebellar Ataxia 15 40
223 VTM001 Vitamin K Deficiency Hemorrhagic Disease 40
224 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
225 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
226 c SPN103 Spinocerebellar Ataxia 31 40
227 c SPN106 Spinocerebellar Ataxia 5 40
228 c GLY098 Glycogen Storage Disease, Type Ixd 40
229 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
230 c HMC021 Hemochromatosis, Type 2a 40
231 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
232 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
233 P XNT004 Xanthinuria 39
234 CRB148 Cerebral Creatine Deficiency Syndrome 3 39
235 MHR001 Mohr-Tranebjaerg Syndrome 39
236 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39
237 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 39
238 END028 Endemic Goiter 39
239 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
240 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
241 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
242 c ALB024 Albinism, Ocular, Type I 38
243 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 38
244 c SPN304 Spinocerebellar Ataxia 8 38
245 c MYC068 Myoclonic Epilepsy of Infancy 38
246 c GM2005 Gm2-Gangliosidosis, Ab Variant 38
247 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
248 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 38
249 c MYG007 Myoglobinuria, Recurrent 38
250 P GNG010 Gangliosidosis Gm2 37
251 P 3MT007 3-Methylglutaconic Aciduria 37
252 c HYP602 Hyperoxaluria, Primary, Type Ii 37
253 P MYG005 Myoglobinuria 37
254 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
255 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
256 BTN004 Biotin Deficiency 37
257 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
258 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 37
259 CHL050 Cholesterol Ester Storage Disease 37
260 BTR002 Beta-Ureidopropionase Deficiency 37
261 c SPN097 Spinocerebellar Ataxia 23 37
262 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
263 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
264 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
265 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 37
266 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
267 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 37
268 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
269 GLY032 Glycosylphosphatidylinositol Deficiency 36
270 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
271 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
272 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
273 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
274 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
275 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
276 HYP003 Hypermethioninemia 36
277 c SPN299 Spinocerebellar Ataxia 20 36
278 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36
279 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
280 c MCP051 Mucopolysaccharidosis, Type Ix 36
281 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36
282 c SPN094 Spinocerebellar Ataxia 18 36
283 c GLY016 Glycogen Storage Disease Ib 35
284 c HRD015 Hereditary Night Blindness 35
285 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
286 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 35
287 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 35
288 LGH012 Leigh Syndrome with Leukodystrophy 35
289 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 35
290 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
291 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
292 NNK001 Nonaka Myopathy 35
293 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
294 c GM1005 Gm1-Gangliosidosis, Type Ii 35
295 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
296 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
297 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 34
298 c GLY023 Glycogen Storage Disease Type 0 34
299 P HYP111 Hyperprolinemia 34
300 c XNT011 Xanthinuria, Type Ii 34
301 CHR387 Chromosome Xp21 Deletion Syndrome 34
302 c MCP045 Mucopolysaccharidosis, Type Iiic 34
303 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 34
304 c MCL016 Mucolipidosis Iii Gamma 34
305 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
306 MNC019 Monocarboxylate Transporter 1 Deficiency 34
307 INF159 Infantile Sialic Acid Storage Disease 34
308 c CNG379 Congenital Disorder of Glycosylation, Type It 34
309 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 33
310 ARB001 Ariboflavinosis 33
311 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 33
312 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33
313 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
314 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33
315 P SPS008 Spastic Ataxia 33
316 c PRP091 Porphyria Cutanea Tarda, Type I 33
317 CTN011 Cutaneous Porphyria 33
318 CHL045 Choline Deficiency Disease 33
319 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
320 PLY010 Polyclonal Hypergammaglobulinemia 33
321 GBT001 Gaba-Transaminase Deficiency 33
322 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
323 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
324 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 33
325 KLL014 Kelley-Seegmiller Syndrome 33
326 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
327 GLY094 Glycine Encephalopathy with Normal Serum Glycine 33
328 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
329 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 32
330 INC022 Inclusion-Cell Disease 32
331 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
332 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 32
333 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
334 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
335 c SPN266 Spinocerebellar Ataxia 35 32
336 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 32
337 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
338 c SPN101 Spinocerebellar Ataxia 29 32
339 MTC060 Mitochondrial Dna Depletion Syndrome 9 32
340 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
341 c SPN105 Spinocerebellar Ataxia 4 31
342 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
343 c SPN095 Spinocerebellar Ataxia 19 31
344 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 31
345 PHS021 Phosphoglycerate Dehydrogenase Deficiency 31
346 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 31
347 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
348 c GLY044 Glycogen Storage Disease Ixc 31
349 SWY001 Swayback 31
350 c MCP046 Mucopolysaccharidosis, Type Iiid 31
351 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
352 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
353 c SPN099 Spinocerebellar Ataxia 26 31
354 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
355 c SPS031 Spastic Paraplegia 23 31
356 c MCP048 Mucopolysaccharidosis, Type Ivb 30
357 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 30
358 ASP024 Asparagine Synthetase Deficiency 30
359 PHS022 Phosphoserine Phosphatase Deficiency 30
360 c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 30
361 c HYP603 Hyperoxaluria, Primary, Type Iii 30
362 P SPS012 Spastic Paraplegia 3a 30
363 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
364 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
365 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
366 c SPN096 Spinocerebellar Ataxia 21 30
367 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
368 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
369 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
370 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
371 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
372 c HRD142 Hereditary Xanthinuria 30
373 MLD011 Mild Hyperphenylalaninemia 30
374 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
375 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
376 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 30
377 c BNG079 Benign Adult Familial Myoclonic Epilepsy 30
378 c MYC083 Myoclonic Epilepsy, Familial Infantile 30
379 c CNG188 Congenital Disorder of Glycosylation, Type if 30
380 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
381 CMB020 Combined Saposin Deficiency 30
382 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 30
383 c SPN104 Spinocerebellar Ataxia 34 29
384 c GLY057 Glycogen Storage Disease X 29
385 c ALB019 Albinism, Oculocutaneous, Type Iv 29
386 FLC001 Folic Acid Deficiency Anemia 29
387 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
388 c GM1006 Gm1-Gangliosidosis, Type Iii 29
389 c ACQ027 Acquired Cutis Laxa 29
390 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
391 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
392 PHS014 Phosphoglycerate Kinase 1 Deficiency 29
393 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
394 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 29
395 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 29
396 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
397 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
398 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
399 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
400 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
401 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
402 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
403 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
404 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
405 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
406 P EPL198 Epilepsy, Myoclonic Juvenile 28
407 c ALB015 Albinism, Oculocutaneous, Type V 28
408 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
409 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
410 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
411 MTC059 Mitochondrial Dna Depletion Syndrome 5 28
412 c INF122 Infantile Krabbe Disease 28
413 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
414 c GLY017 Glycogen Storage Disease Ic 28
415 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 28
416 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
417 ACD011 Acid Phosphatase Deficiency 28
418 MNC004 Monoclonal Paraproteinemia 28
419 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
420 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
421 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 27
422 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 27
423 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
424 c SPN383 Spinocerebellar Ataxia 42 27
425 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
426 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
427 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
428 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 27
429 GLT028 Glutaric Aciduria Iii 27
430 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 27
431 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
432 c SPN098 Spinocerebellar Ataxia 25 27
433 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 27
434 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
435 MYP097 Myopathy with Lactic Acidosis, Hereditary 27
436 c HYP248 Hyperprolinemia, Type I 27
437 RBS005 Ribose 5-Phosphate Isomerase Deficiency 27
438 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
439 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
440 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
441 c SPN247 Spinocerebellar Ataxia Type 19/22 27
442 c SPN283 Spinocerebellar Ataxia 37 27
443 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
444 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
445 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
446 SRN001 Serine Deficiency 27
447 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 27
448 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
449 c SPN284 Spinocerebellar Ataxia 38 27
450 c GLY043 Glycogen Storage Disease Xii 27
451 c HRD186 Hereditary Spastic Paraplegia 51 27
452 LKT001 Leukotriene C4 Synthase Deficiency 27
453 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 26
454 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
455 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
456 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
457 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
458 c TYP035 Type 1 Diabetes Mellitus 11 26
459 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
460 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
461 c SPS021 Spastic Paraplegia 10 26
462 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
463 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
464 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
465 c SPS092 Spastic Paraplegia 11 26
466 MTC088 Mitochondrial Dna Depletion Syndrome 13 26
467 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
468 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
469 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
470 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 26
471 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 26
472 CRT011 Carotenemia 26
473 c GLY097 Glycogen Storage Disease Ixb 26
474 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 26
475 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 26
476 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 26
477 c SPN372 Spinocerebellar Ataxia 43 26
478 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
479 c TYP037 Type 1 Diabetes Mellitus 13 26
480 c GLY009 Glycogen Storage Disease Xv 26
481 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
482 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
483 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
484 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 26
485 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
486 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
487 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
488 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
489 c ALB017 Albinism, Oculocutaneous, Type Vi 25
490 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
491 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 25
492 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
493 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 25
494 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
495 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
496 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
497 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
498 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
499 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
500 DMT001 Dimethylglycine Dehydrogenase Deficiency 25
501 c SPS039 Spastic Paraplegia 5a 25
502 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 25
503 c TYP033 Type 1 Diabetes Mellitus 7 25
504 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
505 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25
506 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
507 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
508 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25
509 c TYP032 Type 1 Diabetes Mellitus 6 24
510 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 24
511 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 24
512 MTC062 Mitochondrial Dna Depletion Syndrome 2 24
513 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
514 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 24
515 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
516 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
517 c EPL210 Epilepsy, Progressive Myoclonic, 6 24
518 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
519 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
520 c EPL155 Epilepsy, Progressive Myoclonic, 8 24
521 CMB046 Combined Oxidative Phosphorylation Deficiency 11 24
522 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24
523 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 24
524 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
525 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
526 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
527 LCT013 Lactase Deficiency, Congenital 24
528 c SPN286 Spinocerebellar Ataxia 40 24
529 CMB045 Combined Oxidative Phosphorylation Deficiency 19 24
530 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
531 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
532 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23
533 c EPL134 Epilepsy, Progressive Myoclonic 7 23
534 c TYP028 Type 1 Diabetes Mellitus 2 23
535 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
536 c SPS036 Spastic Paraplegia 3 23
537 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
538 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
539 c LCT011 Lactose Intolerance, Adult Type 23
540 c SPS025 Spastic Paraplegia 15 23
541 c TYP031 Type 1 Diabetes Mellitus 5 23
542 SDH011 Sedoheptulokinase Deficiency 23
543 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 23
544 c EPL207 Epilepsy, Progressive Myoclonic, 1b 23
545 MTC078 Mitochondrial Dna Depletion Syndrome 11 23
546 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 23
547 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 23
548 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
549 c EPL188 Epilepsy, Progressive Myoclonic, 10 23
550 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
551 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
552 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
553 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 23
554 c ALB016 Albinism, Oculocutaneous, Type Vii 23
555 c SPN323 Spinocerebellar Ataxia 41 23
556 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
557 c HMC019 Hemochromatosis, Type 2b 23
558 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
559 c FML324 Familial Porphyria Cutanea Tarda 22
560 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
561 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 22
562 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
563 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 22
564 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
565 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
566 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
567 c GLY059 Glycogen Storage Disease Xiii 22
568 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
569 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22
570 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
571 CMB064 Combined Oxidative Phosphorylation Deficiency 24 22
572 ISL116 Isolated Complex Iii Deficiency 22
573 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
574 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
575 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22
576 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
577 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
578 c TYP038 Type 1 Diabetes Mellitus 15 22
579 CMB015 Combined Oxidative Phosphorylation Deficiency 4 22
580 CMB013 Combined Oxidative Phosphorylation Deficiency 2 22
581 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
582 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 22
583 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
584 STT003 Steatitis 22
585 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
586 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
587 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
588 MTH040 Methylmalonyl-Coa Epimerase Deficiency 21
589 CMB065 Combined Oxidative Phosphorylation Deficiency 26 21
590 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 21
591 c SPN259 Spinocerebellar Ataxia 32 21
592 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
593 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 21
594 CMB044 Combined Oxidative Phosphorylation Deficiency 14 21
595 c SPS091 Spastic Paraplegia 4 21
596 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
597 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 21
598 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
599 CMB016 Combined Oxidative Phosphorylation Deficiency 5 21
600 CMB043 Combined Oxidative Phosphorylation Deficiency 9 21
601 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
602 HMC036 Homocystinuria Without Methylmalonic Aciduria 21
603 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
604 MRC009 Mercaptolactate-Cysteine Disulfiduria 21
605 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 21
606 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
607 c SPN420 Spinocerebellar Ataxia 46 21
608 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 21
609 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
610 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 21
611 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21
612 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 21
613 c TYP036 Type 1 Diabetes Mellitus 12 21
614 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
615 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 21
616 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
617 LPY002 Lipoyltransferase 1 Deficiency 21
618 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 21
619 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
620 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 20
621 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
622 c GLY006 Glycogen Storage Disease Viii 20
623 c SPN419 Spinocerebellar Ataxia 45 20
624 CMB049 Combined Oxidative Phosphorylation Deficiency 17 20
625 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
626 c TYP027 Type 1 Diabetes Mellitus 10 20
627 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
628 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
629 c SPS191 Spastic Ataxia 7, Autosomal Dominant 20
630 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
631 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
632 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
633 CRB137 Cerebral Creatine Deficiency Syndrome 20
634 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
635 c SPN418 Spinocerebellar Ataxia 44 20
636 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
637 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
638 c SPS013 Spastic Paraplegia 8 20
639 c SPN102 Spinocerebellar Ataxia 30 20
640 c SPS020 Spastic Paraplegia 1 20
641 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
642 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
643 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 20
644 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
645 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
646 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
647 CMB048 Combined Oxidative Phosphorylation Deficiency 15 19
648 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 19
649 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 19
650 c PRM150 Primary Localized Amyloidosis 19
651 NLX003 Neu-Laxova Syndrome 2 19
652 c TYP039 Type 1 Diabetes Mellitus 17 19
653 PLY114 Polyglucosan Body Myopathy 2 19
654 ISL082 Isolated Atp Synthase Deficiency 19
655 CMB051 Combined Oxidative Phosphorylation Deficiency 21 19
656 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 19
657 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
658 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
659 c HRD188 Hereditary Spastic Paraplegia 72 19
660 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
661 CMB041 Combined Oxidative Phosphorylation Deficiency 13 19
662 CMB071 Combined Oxidative Phosphorylation Deficiency 27 19
663 CMB077 Combined Oxidative Phosphorylation Deficiency 30 19
664 HYP690 Hyper-Beta-Alaninemia 19
665 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 19
666 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
667 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
668 CMB052 Combined Oxidative Phosphorylation Deficiency 20 19
669 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
670 MYP149 Myopathy, Mitochondrial, and Ataxia 19
671 c INF126 Infantile Glycine Encephalopathy 19
672 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
673 c SPN107 Spinocerebellar Ataxia 9 19
674 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
675 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 19
676 c SPS042 Spastic Paraplegia 9 19
677 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
678 c SPS037 Spastic Paraplegia 31 19
679 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 18
680 NNT038 Neonatal Glycine Encephalopathy 18
681 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
682 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 18
683 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 18
684 P JVN024 Juvenile Hereditary Hemochromatosis 18
685 MTC079 Mitochondrial Pyruvate Carrier Deficiency 18
686 c SPS034 Spastic Paraplegia 26 18
687 c SPS027 Spastic Paraplegia 17 18
688 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 18
689 c TYP040 Type 1 Diabetes Mellitus 18 18
690 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 18
691 c SPS028 Spastic Paraplegia 18 17
692 c SPS041 Spastic Paraplegia 6 17
693 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
694 PRM123 Paramyloidosis 17
695 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
696 c GLY093 Glycogen Storage Disease Ixa 17
697 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 17
698 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
699 c MYC086 Myoclonic Epilepsy, Juvenile 4 17
700 c SPS023 Spastic Paraplegia 13 17
701 c SPN421 Spinocerebellar Ataxia 47 17
702 c EPL186 Epilepsy, Juvenile Myoclonic 9 17
703 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 17
704 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
705 c SPN336 Spinocerebellar Ataxia Type 16 17
706 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
707 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 16
708 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
709 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16
710 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 16
711 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
712 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
713 c SPS080 Spastic Paraplegia 51 16
714 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16
715 c TYP029 Type 1 Diabetes Mellitus 3 16
716 PYR009 Pyridoxine Deficiency Anemia 16
717 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 16
718 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
719 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
720 HYD055 Hydroxylysinuria 15
721 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 15
722 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
723 c SPS032 Spastic Paraplegia 24 15
724 c SPS033 Spastic Paraplegia 25 15
725 c SPS035 Spastic Paraplegia 29 15
726 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
727 GNT042 Genetic Recurrent Myoglobinuria 15
728 c AHM002 Ah Amyloidosis 15
729 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
730 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
731 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
732 c SPS022 Spastic Paraplegia 12 15
733 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
734 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
735 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 14
736 c SPS026 Spastic Paraplegia 16 14
737 c SPS161 Spastic Paraplegia 32 14
738 c TYP030 Type 1 Diabetes Mellitus 4 14
739 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 14
740 c SPN121 Spondylocostal Dysostosis 1 14
741 c MYG006 Myoglobinuria, Autosomal Dominant 14
742 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
743 c SPS038 Spastic Paraplegia 39 14
744 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
745 c PRG133 Progressive Myoclonic Epilepsy Type 5 14
746 MTC115 Mitochondrial Myopathy, Lethal, Infantile 14
747 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
748 c EFM001 Efemp2-Related Cutis Laxa 14
749 c SPS029 Spastic Paraplegia 19 14
750 c TYS005 Tay-Sachs Disease, B1 Variant 14
751 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 14
752 GNR029 Generalized Galactose Epimerase Deficiency 14
753 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
754 c LTB003 Ltbp4-Related Cutis Laxa 14
755 c EPL217 Epilepsy, Juvenile Myoclonic 10 14
756 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 14
757 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 13
758 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 13
759 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 13
760 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 13
761 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 13
762 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 13
763 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 13
764 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 13
765 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
766 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
767 c TYP034 Type 1 Diabetes Mellitus 8 13
768 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 13
769 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
770 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 13
771 HYP822 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 13
772 RNN006 Reunion Island Larsen Syndrome 12
773 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
774 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 12
775 c SPS024 Spastic Paraplegia 14 12
776 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 12
777 c GLY001 Glycogen Storage Disease Ix 12
778 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
779 c TFR001 Tfr2-Related Hereditary Hemochromatosis 12
780 c ACQ002 Acquired Night Blindness 11
781 c SPS040 Spastic Paraplegia 5b 11
782 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
783 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
784 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
785 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
786 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
787 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
788 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
789 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
790 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
791 FLN005 Folinic Acid-Responsive Seizures 10
792 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
793 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 10
794 c SPN122 Spondylocostal Dysostosis 2 10
795 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 10
796 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
797 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
798 c SPN123 Spondylocostal Dysostosis 3 10
799 c SPN124 Spondylocostal Dysostosis 4 10
800 DBT003 Diabetic Peripheral Angiopathy 9
801 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 9
802 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9
803 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 9
804 c SPS214 Spastic Ataxia 4 9
805 c SPS171 Spastic Ataxia 5 9
806 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
807 c ADL071 Adult Krabbe Disease 9
808 c LCT020 Lactic Acidosis, Chronic Adult Form 9
809 c INF166 Infantile Epileptic Encephalopathy 55 9
810 c INF169 Infantile Epileptic Encephalopathy 59 9
811 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
812 c ACT189 Acute Neonatal Citrullinemia Type I 9
813 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
814 MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 8
815 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 8
816 c SPS162 Spastic Ataxia 1 8
817 c SPS163 Spastic Ataxia 3 8
818 c FBL003 Fbln5-Related Cutis Laxa 8
819 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
820 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 8
821 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 8
822 P TTL001 Total Internal Ophthalmoplegia 8
823 c INF165 Infantile Epileptic Encephalopathy 56 8
824 c INF167 Infantile Epileptic Encephalopathy 57 8
825 c INF168 Infantile Epileptic Encephalopathy 58 8
826 c ADL083 Adult-Onset Citrullinemia Type I 8
827 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
828 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
829 P JVN036 Juvenile Sialidosis Type 2 7
830 c CNG348 Congenital Sialidosis Type 2 7
831 c SPS170 Spastic Ataxia 2 7
832 c SPS229 Spastic Ataxia 8 7
833 TRN049 Transient Tyrosinemia of the Newborn 7
834 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
835 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
836 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
837 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
838 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
839 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 7
840 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
841 c ALP055 Alpha-Mannosidosis, Infantile Form 7
842 c ALP056 Alpha-Mannosidosis, Adult Form 7
843 c SPS172 Spastic Ataxia 7 7
844 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 6
845 PRM138 Pure Mitochondrial Myopathy 6
846 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
847 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
848 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
849 c MTH080 Methylmalonic Acidemia Cb1b Type 6
850 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
851 P ATS321 Autosomal Dominant Complex Spastic Paraplegia Type 9b 6
852 XYL001 Xylt1-Cdg 5
853 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
854 P MTH065 Methylmalonic Acidemia Cb1a Type 5
855 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 5
856 c ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 5
857 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
858 c LCT010 Lactic Acidosis Congenital Infantile 5
859 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 4
860 CRB012 Cerebral Folate Receptor Alpha Deficiency 4
861 MTR052 Maternally-Inherited Mitochondrial Dystonia 3
862 c MYG002 Myoglobinuria Dominant Form 3
863 MTC086 Mitochondrial Dna Depletion Syndrome 12 3
864 LYS024 Lysosomal and Lipase Deficiency 3
865 ADN058 Adenylosuccinase Lyase Deficiency 2
866 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51
867 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 59
868 c 3MT015 3-Methylglutaconic Aciduria, Type I 44
869 c 3MT014 3-Methylglutaconic Aciduria, Type V 41
870 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29
871 AYZ001 Ayazi Syndrome 9
872 RCK004 Rickets 62
873 P GLT035 Glutaric Acidemia I 45
874 CMR002 Coumarin Resistance 44
875 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 41
876 GRC001 Gracile Syndrome 31
877 MCR257 Microcephaly, Amish Type 27
878 OBS050 Obesity Due to Congenital Leptin Deficiency 23
879 c GLT029 Glutaric Acidemia Type Iii 16
880 IRN004 Iron-Refractory Iron Deficiency Anemia 42
881 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54
882 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
883 ADN024 Adenine Phosphoribosyltransferase Deficiency 49
884 TTR005 Tetrahydrobiopterin Deficiency 44
885 3HY001 3-Hydroxyisobutyric Aciduria 25
886 P CRB059 Cerebellar Degeneration 39
887 HYP364 Hyperostosis Frontalis Interna 28
888 c SBC039 Subacute Cerebellar Degeneration 22
889 c PRM015 Primary Cerebellar Degeneration 19
890 DPL003 Diploid-Triploid Mosaicism 15
891 THP001 Thiopurine S Methyltranferase Deficiency 15
892 EFV001 Efavirenz, Poor Metabolism of 13
893 MN1002 Man1b1-Cdg 11
894 INT088 Intrinsic Factor Deficiency 35
895 IRN008 Iron Overload in Africa 32
896 CNG016 Congenital Intrinsic Factor Deficiency 28
897 AMN012 Aminoacidopathies 24
898 CHR506 Choroideremia, Deafness, and Mental Retardation 24
899 CLR029 Clark-Baraitser Syndrome 23
900 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 20
901 c BMN004 Biemond Syndrome Ii 19
902 P BMN001 Biemond Syndrome 14
903 CMR005 Camera-Marugo-Cohen Syndrome 12
904 TGL001 Tiglic Acidemia 11
905 WNS001 Weinstein Kliman Scully Syndrome 5
906 c BMN003 Biemond Syndrome Type 1 3
907 P PRK057 Parkinson Disease, Late-Onset 76
908 P MTC003 Metachromatic Leukodystrophy 71
909 P TYS001 Tay-Sachs Disease 71
910 FBR012 Fabry Disease 71
911 P DMN001 Diamond-Blackfan Anemia 69
912 P KRB001 Krabbe Disease 69
913 SCH036 Scheie Syndrome 68
914 P MCL013 Mucolipidosis Iv 67
915 CHD001 Chediak-Higashi Syndrome 65
916 P DBT085 Diabetes Mellitus, Insulin-Dependent 65
917 GLC006 Galactosemia 65
918 P CHR071 Charcot-Marie-Tooth Disease 65
919 SND001 Sandhoff Disease 64
920 CRB011 Cerebrotendinous Xanthomatosis 63
921 c MCP050 Mucopolysaccharidosis, Type Ii 63
922 c MCL062 Mucolipidosis Ii Alpha/beta 63
923 c MCP049 Mucopolysaccharidosis, Type Vii 63
924 CYS013 Cystinuria 63
925 P CNG411 Congenital Disorder of Glycosylation, Type in 62
926 PRP001 Propionic Acidemia 62
927 c MCP024 Mucopolysaccharidosis Type Vi 62
928 P GCH001 Gaucher's Disease 62
929 PTR032 Peters-Plus Syndrome 62
930 P NRN021 Neuronal Ceroid Lipofuscinosis 61
931 MTH078 Methylmalonic Aciduria, Cblb Type 61
932 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
933 PRP083 Porphyria, Acute Intermittent 61
934 FTT001 Fatty Liver Disease 60
935 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
936 P INT001 Intrahepatic Cholestasis 60
937 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
938 P FCS002 Fucosidosis 60
939 c MCP001 Mucopolysaccharidosis Iii 60
940 P CTR002 Cataract 60
941 c MCP004 Mucopolysaccharidosis Iv 59
942 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58
943 P HYP724 Hyperlipoproteinemia, Type Iii 58
944 c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 58
945 PRT118 Protoporphyria, Erythropoietic 58
946 HLC001 Holocarboxylase Synthetase Deficiency 58
947 c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 58
948 c GNG001 Gangliosidosis Gm1 57
949 DBF001 D-Bifunctional Protein Deficiency 57
950 ARG002 Argininosuccinic Aciduria 57
951 MTC007 Mitochondrial Complex I Deficiency 57
952 PYR041 Pyruvate Kinase Deficiency of Red Cells 57
953 c PRX045 Peroxisome Biogenesis Disorder 1b 56
954 c FRC011 Fructose Intolerance, Hereditary 56
955 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 56
956 c MNN047 Mannosidosis, Alpha B, Lysosomal 56
957 c PSD108 Pseudohypoparathyroidism, Type Ia 56
958 P ZLL001 Zellweger Syndrome 56
959 P HYP614 Hyperlipidemia, Familial Combined 56
960 BTN003 Biotinidase Deficiency 56
961 HRL003 Hurler Syndrome 56
962 ALK013 Alkaptonuria 56
963 ASP002 Aspartylglucosaminuria 56
964 P HYP014 Hyperuricemia 55
965 DBN001 Dubin-Johnson Syndrome 55
966 PRP082 Porphyria, Congenital Erythropoietic 55
967 CTR172 Citrullinemia, Classic 55
968 PRP032 Porphyria Variegata 55
969 LPD016 Lipoid Proteinosis of Urbach and Wiethe 55
970 c ANM036 Anemia, Sideroblastic, 1 55
971 MVL001 Mevalonic Aciduria 54
972 P HYP818 Hypobetalipoproteinemia, Familial, 1 54
973 APP015 Apparent Mineralocorticoid Excess 54
974 P LMB006 Limb-Girdle Muscular Dystrophy 54
975 HMZ003 Homozygous Familial Hypercholesterolemia 54
976 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
977 MLT135 Multiple Sulfatase Deficiency 53
978 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 53
979 GLC012 Galactosialidosis 53
980 P GLY010 Glycine Encephalopathy 53
981 c PSD066 Pseudohypoparathyroidism, Type Ib 53
982 LYS003 Lysinuric Protein Intolerance 52
983 CLC001 Calciphylaxis 52
984 c CRG004 Crigler-Najjar Syndrome, Type Ii 52
985 WRN002 Wernicke-Korsakoff Syndrome 52
986 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 52
987 VTM028 Vitamin E, Familial Isolated Deficiency of 52
988 c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 51
989 TRS021 Triosephosphate Isomerase Deficiency 51
990 ARG007 Argininemia 51
991 HMS001 Hemosiderosis 51
992 P NNL004 Nonalcoholic Fatty Liver Disease 51
993 c HYP739 Hyperlipoproteinemia, Type Iv 50
994 HYP732 Hyperalphalipoproteinemia 1 50
995 PYC001 Pycnodysostosis 50
996 P PSD015 Pseudohypoparathyroidism 50
997 P HMC002 Homocystinuria 50
998 PRN011 Pernicious Anemia 50
999 c MCL046 Mucolipidosis Iii Alpha/beta 49
1000 ORT008 Orotic Aciduria 49
1001 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1002 HYP088 Hyper-Igd Syndrome 49
1003 NLX004 Neu-Laxova Syndrome 1 49
1004 ISV001 Isovaleric Acidemia 49
1005 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1006 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
1007 OCC006 Occipital Horn Syndrome 49
1008 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
1009 P KRN004 Kernicterus 48
1010 HYP081 Hypolipoproteinemia 48
1011 GLC009 Glucosephosphate Dehydrogenase Deficiency 48
1012 HMC014 Homocysteinemia 48
1013 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1014 c DWL002 Dowling-Degos Disease 1 48
1015 GLY014 Glycerol Kinase Deficiency 48
1016 HPT025 Hepatic Lipase Deficiency 47
1017 HRT031 Hartnup Disorder 47
1018 P MNN019 Mannosidosis, Beta a, Lysosomal 47
1019 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
1020 MTC020 Mitochondrial Complex Ii Deficiency 47
1021 SPH010 Sphingolipidosis 47
1022 P D2H002 D-2-Hydroxyglutaric Aciduria 1 47
1023 P FML035 Familial Hyperlipidemia 47
1024 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47
1025 SGW002 Segawa Syndrome, Autosomal Recessive 47
1026 c DMN023 Diamond-Blackfan Anemia 1 46
1027 BTY001 Butyrylcholinesterase Deficiency 46
1028 c HRM005 Hermansky-Pudlak Syndrome 1 46
1029 c TYR013 Tyrosinemia, Type Ii 46
1030 c HRM006 Hermansky-Pudlak Syndrome 3 46
1031 FRB001 Farber Lipogranulomatosis 46
1032 GLT007 Glutathione Synthetase Deficiency 46
1033 NRM019 Neuraminidase Deficiency 46
1034 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 46
1035 ALB002 Albinism 46
1036 c ALB021 Albinism, Oculocutaneous, Type Ii 45
1037 CRB150 Cerebral Creatine Deficiency Syndrome 2 45
1038 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 45
1039 ENC055 Encephalopathy, Ethylmalonic 45
1040 FSH001 Fish-Eye Disease 45
1041 GLC011 Galactose Epimerase Deficiency 45
1042 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 45
1043 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 44
1044 BRN045 Brunner Syndrome 44
1045 MLT018 Multiple Carboxylase Deficiency 44
1046 c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44
1047 P SLL003 Salla Disease 44
1048 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
1049 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 44
1050 SLR001 Sialuria 43
1051 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 43
1052 P SDR003 Sideroblastic Anemia 43
1053 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 43
1054 FRC001 Fructose-1,6-Bisphosphatase Deficiency 43
1055 c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 43
1056 P PLL002 Pellagra 43
1057 c HMC009 Hemochromatosis Type 2 42
1058 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 42
1059 c L2H001 L-2-Hydroxyglutaric Aciduria 42
1060 c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 42
1061 c TYR011 Tyrosinemia, Type Iii 42
1062 P TRM004 Trimethylaminuria 42
1063 HYP781 Hypoascorbemia 42
1064 PRL019 Prolidase Deficiency 42
1065 c HMC010 Hemochromatosis, Type 3 42
1066 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 41
1067 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 41
1068 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 41
1069 c HRM008 Hermansky-Pudlak Syndrome 5 41
1070 P PNT019 Pontocerebellar Hypoplasia 41
1071 P CNG003 Congenital Dyserythropoietic Anemia 41
1072 GLC004 Galactokinase Deficiency 41
1073 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 41
1074 ALP077 Alpha-Methylacetoacetic Aciduria 41
1075 SBL008 Sea-Blue Histiocyte Disease 41
1076 BRB001 Beriberi 41
1077 GLC022 Glucose/galactose Malabsorption 41
1078 c CTR130 Cataract 9, Multiple Types 41
1079 c ALB009 Albinism, Oculocutaneous, Type Ia 41
1080 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 41
1081 HYP236 Hyperbilirubinemia, Rotor Type 40
1082 c PRX059 Peroxisome Biogenesis Disorder 1a 40
1083 c PNT034 Pontocerebellar Hypoplasia, Type 2e 40
1084 IMN001 Iminoglycinuria 40
1085 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40
1086 c ERL056 Early-Onset Parkinson's Disease 40
1087 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
1088 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1089 c HMC035 Hemochromatosis, Type 4 40
1090 MTH074 Methionine Adenosyltransferase I/iii Deficiency 40
1091 HRL004 Hurler-Scheie Syndrome 40
1092 c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 40
1093 c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 40
1094 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1095 P DWL001 Dowling-Degos Disease 40
1096 c SPN308 Spinocerebellar Ataxia 28 39
1097 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 39
1098 DHY011 Dihydropyrimidinase Deficiency 39
1099 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 39
1100 c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39
1101 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 39
1102 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 39
1103 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 39
1104 TRN021 Transaldolase Deficiency 39
1105 c FTT008 Fatty Liver Disease, Nonalcoholic 1 39
1106 MLY001 Molybdenum Cofactor Deficiency 39
1107 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 39
1108 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 38
1109 SLF014 Sulfite Oxidase Deficiency, Isolated 38
1110 c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 38
1111 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 38
1112 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 38
1113 c NMN014 Niemann-Pick Disease, Type C2 38
1114 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 38
1115 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 38
1116 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 38
1117 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1118 PYR037 Pyruvate Carboxylase Deficiency 38
1119 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
1120 c CTR115 Cataract 16, Multiple Types 38
1121 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 37
1122 c PNT018 Pontocerebellar Hypoplasia, Type 1b 37
1123 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 37
1124 c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 37
1125 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 37
1126 ADN022 Adenylosuccinase Deficiency 37
1127 HMC038 Hemochromatosis, Neonatal 37
1128 c CTR118 Cataract 14, Multiple Types 37
1129 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
1130 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1131 EPL131 Epilepsy, Pyridoxine-Dependent 37
1132 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 37
1133 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 36
1134 c PSD117 Pseudohypoparathyroidism, Type Ic 36
1135 PYR016 Pyridoxine Deficiency 36
1136 c HYP768 Hyperlipoproteinemia, Type I 36
1137 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 36
1138 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 36
1139 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 36
1140 GLY015 Glycine N-Methyltransferase Deficiency 36
1141 c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36
1142 NCT003 N-Acetylglutamate Synthase Deficiency 36
1143 c CTR129 Cataract 31, Multiple Types 36
1144 c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 36
1145 c CTR170 Cataract 30, Multiple Types 36
1146 DSM002 Desmosterolosis 36
1147 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 35
1148 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1149 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 35
1150 CNZ001 Coenzyme Q10 Deficiency Disease 35
1151 FLT009 Folate Malabsorption, Hereditary 35
1152 P CTR177 Citrullinemia, Type Ii, Adult-Onset 35
1153 KNZ001 Kanzaki Disease 35
1154 c MSC161 Muscular Dystrophy, Limb-Girdle, Type 1c 35
1155 INF129 Infantile Cerebellar-Retinal Degeneration 35
1156 c CTR098 Cataract 1, Multiple Types 35
1157 c PRK025 Parkinson Disease 10 35
1158 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 35
1159 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
1160 FMR004 Fumarase Deficiency 34
1161 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 34
1162 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 34
1163 GLY031 Glycoproteinosis 34
1164 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
1165 LTH002 Lathosterolosis 34
1166 ACT209 Acatalasemia 34
1167 P SCH017 Schindler Disease 33
1168 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
1169 PPC001 Pepck 1 Deficiency 33
1170 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33
1171 c PNT045 Pontocerebellar Hypoplasia, Type 1a 33
1172 c HRM009 Hermansky-Pudlak Syndrome 6 33
1173 c CTR141 Cataract 21, Multiple Types 33
1174 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1175 c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 33
1176 c HYP396 Hypercholesterolemia, Autosomal Recessive 33
1177 FRS004 Free Sialic Acid Storage Disorders 33
1178 SCR037 Sucrase-Isomaltase Deficiency, Congenital 33
1179 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 33
1180 KSH001 Keshan Disease 33
1181 P 2HY001 2-Hydroxyglutaric Aciduria 32
1182 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
1183 c HRM011 Hermansky-Pudlak Syndrome 8 32
1184 c CTR122 Cataract 5, Multiple Types 32
1185 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
1186 HMC001 Homocarnosinosis 32
1187 MTC008 Mitochondrial Complex Iii Deficiency 32
1188 c ZLL011 Zellweger Spectrum Disorder 32
1189 c HRM012 Hermansky-Pudlak Syndrome 9 32
1190 c PRX055 Peroxisome Biogenesis Disorder 11a 32
1191 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1192 SCH030 Schneckenbecken Dysplasia 32
1193 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 32
1194 MLN011 Malonyl-Coa Decarboxylase Deficiency 32
1195 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
1196 c ALB010 Albinism, Oculocutaneous, Type Ib 31
1197 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 31
1198 SRC015 Sarcosinemia 31
1199 c CTR125 Cataract 7 31
1200 c HMC034 Hemochromatosis, Type 5 31
1201 CMB012 Combined Oxidative Phosphorylation Deficiency 1 31
1202 c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 31
1203 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 31
1204 c CTR145 Cataract 44 31
1205 c HYP804 Hyperlipidemia, Combined, 1 31
1206 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 31
1207 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31
1208 c CTR103 Cataract 4, Multiple Types 31
1209 c PNT044 Pontocerebellar Hypoplasia, Type 2a 31
1210 c CTR158 Cataract 37 31
1211 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1212 c PRK085 Parkinson Disease 1, Autosomal Dominant 31
1213 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
1214 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
1215 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
1216 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
1217 c CHR135 Charcot-Marie-Tooth Disease Type 2a 30
1218 PHS023 Phosphoserine Aminotransferase Deficiency 30
1219 c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 30
1220 P ALB023 Albinism, Ocular, with Sensorineural Deafness 30
1221 c PNT043 Pontocerebellar Hypoplasia, Type 4 30
1222 CYS019 Cystathioninuria 30
1223 P MSC002 Muscular Dystrophy-Dystroglycanopathy 30
1224 24D001 2,4-Dienoyl-Coa Reductase Deficiency 30
1225 c CTR095 Cataract 8, Multiple Types 29
1226 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 29
1227 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 29
1228 c HRM020 Hermansky-Pudlak Syndrome 10 29
1229 PLY158 Polyglucosan Body Neuropathy, Adult Form 29
1230 c ALB020 Albinism, Oculocutaneous, Type Iii 29
1231 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 29
1232 MTC063 Mitochondrial Dna Depletion Syndrome 3 29
1233 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 29
1234 c CTR096 Cataract 6, Multiple Types 29
1235 c PNT032 Pontocerebellar Hypoplasia, Type 9 29
1236 c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 29
1237 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
1238 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1239 P XLN161 X-Linked Chondrodysplasia Punctata 29
1240 c CTR102 Cataract 2, Multiple Types 28
1241 c GCH013 Gaucher Disease, Type Iiic 28
1242 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 28
1243 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1244 c CTR175 Cataract 24 28
1245 c HRM010 Hermansky-Pudlak Syndrome 7 28
1246 LGH003 Leigh Syndrome, French Canadian Type 28
1247 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1248 c CTR132 Cataract 3, Multiple Types 28
1249 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 28
1250 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
1251 c PRX060 Peroxisome Biogenesis Disorder 5a 28
1252 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 28
1253 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
1254 c CTR121 Cataract 25 28
1255 GLT005 Glutamate Formiminotransferase Deficiency 28
1256 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 28
1257 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
1258 c HYP716 Hypermanganesemia with Dystonia 1 28
1259 c HRM007 Hermansky-Pudlak Syndrome 4 27
1260 c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 27
1261 c CTR174 Cataract 40 27
1262 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
1263 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1264 c PRX056 Peroxisome Biogenesis Disorder 11b 27
1265 HWK001 Hawkinsinuria 27
1266 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
1267 c CTR124 Cataract 10, Multiple Types 27
1268 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
1269 c SPS212 Spastic Ataxia 5, Autosomal Recessive 27
1270 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
1271 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
1272 c PRK093 Parkinson Disease 8, Autosomal Dominant 27
1273 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 26
1274 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 26
1275 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
1276 GLY061 Glycogen Storage Disease 0, Muscle 26
1277 MTH077 Methylmalonic Aciduria, Cbla Type 26
1278 DGL002 D-Glyceric Aciduria 26
1279 c PRX054 Peroxisome Biogenesis Disorder 12a 26
1280 c DMN017 Diamond-Blackfan Anemia 10 26
1281 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
1282 c LMB047 Limb-Girdle Muscular Dystrophy, Type 1g 26
1283 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26
1284 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
1285 CNG002 Congenital Bile Acid Synthesis Defect 26
1286 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
1287 PNC048 Pancreatic Lipase Deficiency 26
1288 MTC055 Mitochondrial Dna Depletion Syndrome 4b 26
1289 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
1290 CMB011 Combined Malonic and Methylmalonic Aciduria 26
1291 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1292 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
1293 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 25
1294 MTC021 Mitochondrial Complex V Deficiency 25
1295 5XP001 5-Oxoprolinase Deficiency 25
1296 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 25
1297 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
1298 LCT017 Lactate Dehydrogenase B Deficiency 25
1299 c CTR113 Cataract 11, Multiple Types 25
1300 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 25
1301 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
1302 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1303 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 25
1304 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
1305 c PRK065 Parkinson Disease 20, Early-Onset 25
1306 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
1307 c DMN022 Diamond-Blackfan Anemia 9 25
1308 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 25
1309 c HRD173 Hereditary Late-Onset Parkinson Disease 25
1310 c DMN021 Diamond-Blackfan Anemia 6 25
1311 MND023 Mend Syndrome 25
1312 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25
1313 c CTR169 Cataract 29 25
1314 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 24
1315 c PNT048 Pontocerebellar Hypoplasia, Type 2c 24
1316 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
1317 c PRX065 Peroxisome Biogenesis Disorder 3a 24
1318 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24
1319 c PRX091 Peroxisome Biogenesis Disorder 8a 24
1320 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
1321 HYD030 Hydroxykynureninuria 24
1322 FRC005 Fructosuria, Essential 24
1323 c PRX057 Peroxisome Biogenesis Disorder 4a 24
1324 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
1325 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 24
1326 CMB014 Combined Oxidative Phosphorylation Deficiency 3 24
1327 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
1328 MLD010 Mild Phenylketonuria 24
1329 c PRX048 Peroxisome Biogenesis Disorder 10a 24
1330 c PRX046 Peroxisome Biogenesis Disorder 7a 24
1331 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
1332 P PNT006 Pentosuria 23
1333 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1334 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
1335 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
1336 BLC011 Bile Acid Synthesis Defect, Congenital, 3 23
1337 c PRX052 Peroxisome Biogenesis Disorder 13a 23
1338 c PNT050 Pontocerebellar Hypoplasia, Type 11 23
1339 c DMN019 Diamond-Blackfan Anemia 4 23
1340 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
1341 c DMN024 Diamond-Blackfan Anemia 7 23
1342 SCC002 Saccharopinuria 23
1343 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
1344 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
1345 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
1346 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
1347 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 23
1348 GLT014 Glutathionuria 23
1349 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
1350 c PRX043 Peroxisome Biogenesis Disorder 6b 22
1351 c PRX051 Peroxisome Biogenesis Disorder 6a 22
1352 c CTR166 Cataract 33, Multiple Types 22
1353 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 22
1354 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
1355 c CTR131 Cataract 17, Multiple Types 22
1356 c PRK052 Parkinson Disease 17 22
1357 c PRK070 Parkinson Disease 21 22
1358 CMB008 Combined Oxidative Phosphorylation Deficiency 22
1359 c CTR181 Cataract 18 22
1360 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
1361 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
1362 c HYP597 Hyperprolinemia, Type Ii 22
1363 c PRX050 Peroxisome Biogenesis Disorder 9b 22
1364 c DMN018 Diamond-Blackfan Anemia 5 22
1365 c PRX058 Peroxisome Biogenesis Disorder 4b 22
1366 c DMN040 Diamond-Blackfan Anemia 16 22
1367 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
1368 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1369 c PRK091 Parkinson Disease 4, Autosomal Dominant 22
1370 c INT262 Intermediate Maple Syrup Urine Disease 22
1371 c CTR180 Cataract 22, Multiple Types 22
1372 c CTR184 Cataract 39, Multiple Types 22
1373 c DMN029 Diamond-Blackfan Anemia 11 22
1374 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 22
1375 c PRX047 Peroxisome Biogenesis Disorder 5b 22
1376 c DMN006 Diamond-Blackfan Anemia 3 22
1377 c CTR162 Cataract 47 21
1378 c JVN058 Juvenile-Onset Parkinson's Disease 21
1379 HYP279 Hypercholanemia, Familial 21
1380 c CTR119 Cataract 32, Multiple Types 21
1381 c PRK099 Parkinson Disease 18, Autosomal Dominant 21
1382 c PRX062 Peroxisome Biogenesis Disorder 8b 21
1383 VRR003 Verruciform Xanthoma of Skin 21
1384 URC006 Urocanase Deficiency 21
1385 CMB025 Combined Oxidative Phosphorylation Deficiency 10 21
1386 CMB019 Combined Oxidative Phosphorylation Deficiency 8 21
1387 c ATS133 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 21
1388 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1389 c DMN020 Diamond-Blackfan Anemia 8 21
1390 c HYP713 Hypermanganesemia with Dystonia 2 21
1391 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 21
1392 c CTR105 Cataract 12, Multiple Types 21
1393 c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 21
1394 MTC037 Mitochondrial Phosphate Carrier Deficiency 21
1395 CMB047 Combined Oxidative Phosphorylation Deficiency 18 20
1396 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 20
1397 c PRK008 Parkinson Disease Type 9 20
1398 c CTR165 Cataract 19, Multiple Types 20
1399 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
1400 c CTR159 Cataract 35 20
1401 c CTR182 Cataract 23, Multiple Types 20
1402 c CTR116 Cataract 15, Multiple Types 20
1403 c HYP290 Hypobetalipoproteinemia, Familial, 2 20
1404 FTL003 Fatal Infantile Encephalocardiomyopathy 20
1405 MTC025 Mitochondrial Myopathy with Diabetes 20
1406 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20
1407 BSP004 Bisphosphoglycerate Mutase Deficiency 20
1408 c DMN028 Diamond-Blackfan Anemia 12 20
1409 c PRX066 Peroxisome Biogenesis Disorder 3b 20
1410 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
1411 c ATS210 Autosomal Recessive Sideroblastic Anemia 20
1412 c CTR183 Cataract 38 20
1413 CMB084 Combined Oxidative Phosphorylation Deficiency 34 20
1414 CRN042 Carnosinemia 20
1415 c CTR136 Cataract 41 20
1416 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
1417 c ANM034 Anemia, Sideroblastic, 4 20
1418 c CTR097 Cataract 34, Multiple Types 20
1419 CMB072 Combined Oxidative Phosphorylation Deficiency 28 20
1420 c CTR111 Cataract 36 20
1421 FTL054 Fatal Infantile Cytochrome C Oxidase Deficiency 20
1422 c CTR163 Cataract 46, Juvenile-Onset 19
1423 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
1424 TRN067 Transcobalamin I Deficiency 19
1425 c SDR005 Sideroblastic Anemia Acquired 19
1426 c HYP819 Hyperlipoproteinemia, Type Id 19
1427 P PRX064 Peroxisome Biogenesis Disorder 2b 19
1428 c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 19
1429 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 19
1430 c PLL014 Pellagra-Like Syndrome 19
1431 BLC018 Bile Acid Synthesis Defect, Congenital, 6 18
1432 c CTR139 Cataract 42 18
1433 P HYP821 Hypermanganesemia with Dystonia 18
1434 c PRX068 Peroxisome Biogenesis Disorder 7b 18
1435 c CTR178 Cataract 27 18
1436 c HYP302 Hypomagnesemia 4, Renal 18
1437 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1438 BLC016 Bile Acid Synthesis Defect, Congenital, 5 18
1439 c CTR157 Cataract 28 18
1440 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 18
1441 c CTR110 Cataract 26, Multiple Types 18
1442 c CTR106 Cataract 20, Multiple Types 18
1443 c HYP163 Hyperlipidemia Type 3 18
1444 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
1445 c DMN030 Diamond-Blackfan Anemia 13 18
1446 c PRX089 Peroxisome Biogenesis Disorder 10b 18
1447 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 18
1448 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 18
1449 c CTR144 Cataract 43 18
1450 c DMN039 Diamond-Blackfan Anemia 17 18
1451 c CTR185 Cataract 30 17
1452 c CTR160 Cataract 45 17
1453 c PRK022 Parkinson Disease 12 17
1454 BRK013 Birk-Landau-Perez Syndrome 17
1455 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1456 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1457 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1458 c DWL003 Dowling-Degos Disease 2 17
1459 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 17
1460 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
1461 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
1462 c PRK083 Parkinson Disease 22, Autosomal Dominant 16
1463 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
1464 GBM001 Gaba Aminotransferase Deficiency 16
1465 c DMN005 Diamond-Blackfan Anemia 2 16
1466 c LRR001 Lrrk2-Related Parkinson Disease 16
1467 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 16
1468 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
1469 c DWL004 Dowling-Degos Disease 4 15
1470 c D2H003 D-2-Hydroxyglutaric Aciduria 2 15
1471 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
1472 c ESS007 Essential Pentosuria 15
1473 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
1474 DBS003 Dibasic Amino Aciduria I 15
1475 P ACQ013 Acquired Fructose Intolerance 14
1476 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1477 c CTR128 Cataract 33 14
1478 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1479 c CHR550 Charcot-Marie-Tooth Disease Type 2n 14
1480 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
1481 c PSD023 Pseudo-Gaucher Disease 14
1482 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
1483 c CTR025 Cataract, Total Congenital 13
1484 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
1485 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
1486 c PRK058 Parkinson Disease 16 13
1487 c DWL005 Dowling-Degos Disease 3 13
1488 c FTT007 Fatty Liver Disease, Nonalcoholic 2 12
1489 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1490 c DMN045 Diamond-Blackfan Anemia-Like 12
1491 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1492 c HYP333 Hyperlipidemia, Combined, 2 11
1493 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
1494 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
1495 c PRM209 Primary Trimethylaminuria 10
1496 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
1497 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
1498 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
1499 c CHR571 Charcot-Marie-Tooth Disease Type 5 10
1500 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1501 INT043 Intestinal Disaccharidase Deficiency 10
1502 c KRN003 Kernicterus Due to Isoimmunization 10
1503 c INT094 Intermediate Severe Salla Disease 9
1504 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
1505 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1506 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1507 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
1508 c FCS008 Fucosidosis Type 1 8
1509 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
1510 c HRD048 Hereditary Hyperuricemia 8
1511 c VPS003 Vps35-Related Parkinson Disease 8
1512 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1513 FTL050 Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency 7
1514 c CTR008 Cataract Congenital Autosomal Dominant 7
1515 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 7
1516 c ATS269 Autosomal Dominant Sideroblastic Anemia 6
1517 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
1518 INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1519 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 2
1520 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 2
1521 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
1522 MHM001 Mehmo Syndrome 28
1523 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 33
1524 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1525 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26
1526 MTC026 Mitochondrial Myopathy with Lactic Acidosis 26
1527 c MGL018 Megaloblastic Anemia 1 42
1528 P HYP658 Hypoplastic Amelogenesis Imperfecta 26
1529 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 14
1530 P HYP607 Hypercholesterolemia, Familial 79
1531 P LVR013 Liver Disease 75
1532 ACR006 Aceruloplasminemia 73
1533 PHN003 Phenylketonuria 73
1534 WLS001 Wilson Disease 71
1535 c HMC039 Hemochromatosis, Type 1 70
1536 LPD012 Lipoid Congenital Adrenal Hyperplasia 69
1537 c NMN015 Niemann-Pick Disease, Type C1 68
1538 LGH007 Leigh Syndrome 67
1539 P MPL001 Maple Syrup Urine Disease 65
1540 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
1541 MNK001 Menkes Disease 63
1542 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 63
1543 HYP020 Hyperprolactinemia 63
1544 RFS006 Refsum Disease, Classic 62
1545 P HYP802 Hypocalcemia, Autosomal Dominant 1 62
1546 P HRM001 Hermansky-Pudlak Syndrome 62
1547 LWC002 Lowe Oculocerebrorenal Syndrome 61
1548 P CRG003 Crigler-Najjar Syndrome, Type I 61
1549 ALP103 Alpha-1-Antitrypsin Deficiency 61
1550 DBT083 Diabetes Mellitus, Permanent Neonatal 60
1551 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
1552 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 60
1553 P NMN002 Niemann-Pick Disease 60
1554 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
1555 P HYP370 Hypokalemic Periodic Paralysis, Type 1 59
1556 c NMN013 Niemann-Pick Disease, Type a 59
1557 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 59
1558 HYP190 Hypoalphalipoproteinemia, Primary 58
1559 c GCH015 Gaucher Disease, Type I 57
1560 P HYP097 Hyperekplexia 56
1561 CNV004 Canavan Disease 56
1562 CPR004 Coproporphyria, Hereditary 56
1563 HYP052 Hyperkalemic Periodic Paralysis 55
1564 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 55
1565 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55
1566 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55
1567 c TYR012 Tyrosinemia, Type I 54
1568 CYS010 Cystinosis 54
1569 MTC097 Mitochondrial Complex Iv Deficiency 54
1570 MTC027 Mitochondrial Trifunctional Protein Deficiency 54
1571 CRN239 Carnitine Deficiency, Systemic Primary 53
1572 CHY002 Chylomicron Retention Disease 52
1573 NNT017 Neonatal Adrenoleukodystrophy 52
1574 PRN001 Purine Nucleoside Phosphorylase Deficiency 52
1575 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
1576 c OPT053 Optic Atrophy 1 52
1577 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
1578 c ACT134 Acute Liver Failure 52
1579 BRT005 Barth Syndrome 51
1580 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 51
1581 ATR002 Atransferrinemia 51
1582 CHN055 Chanarin-Dorfman Syndrome 51
1583 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 50
1584 PPL049 Papillon-Lefevre Syndrome 50
1585 GYR004 Gyrate Atrophy of Choroid and Retina 50
1586 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
1587 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
1588 NPH003 Nephrocalcinosis 48
1589 P FML068 Familial Hypocalciuric Hypercalcemia 48
1590 P PLM085 Pulmonary Hemosiderosis 48
1591 CYS036 Cystinosis, Nephropathic 48
1592 DNN001 Danon Disease 48
1593 P PRM001 Primary Cutaneous Amyloidosis 48
1594 c HYP740 Hyperlipoproteinemia, Type V 48
1595 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
1596 c GCH017 Gaucher Disease, Type Iii 47
1597 c EXS019 Exostoses, Multiple, Type I 47
1598 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 46
1599 FML026 Familial Lipoprotein Lipase Deficiency 46
1600 CRN295 Carnitine Palmitoyltransferase I Deficiency 46
1601 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 46
1602 HST006 Histidinemia 45
1603 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 45
1604 P HRD001 Hereditary Multiple Exostoses 45
1605 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
1606 c GCH016 Gaucher Disease, Type Ii 44
1607 MTC061 Mitochondrial Dna Depletion Syndrome 1 44
1608 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 43
1609 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 43
1610 c HRM017 Hermansky-Pudlak Syndrome 2 43
1611 P AMY084 Amyloidosis, Finnish Type 43
1612 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
1613 c NMN016 Niemann-Pick Disease, Type B 42
1614 P CNG436 Congenital Disorder of Deglycosylation 41
1615 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 41
1616 FML036 Familial Periodic Paralysis 41
1617 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 41
1618 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
1619 DBT090 Diabetes and Deafness, Maternally Inherited 40
1620 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 40
1621 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 40
1622 TRH001 Trehalase Deficiency 39
1623 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39
1624 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 39
1625 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 38
1626 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1627 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1628 GLT018 Glut1 Deficiency Syndrome 1 37
1629 c CRB193 Cerebral Amyloid Angiopathy, App-Related 37
1630 DCR008 Dicarboxylic Aminoaciduria 37
1631 c HYP534 Hypomagnesemia 3, Renal 37
1632 APL017 Apolipoprotein C-Ii Deficiency 36
1633 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 36
1634 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36
1635 NTR007 Neutral Lipid Storage Disease with Myopathy 36
1636 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 36
1637 P HYP769 Hyperlysinemia, Type I 36
1638 P HYP210 Hypomagnesemia 2, Renal 36
1639 AMN007 Aminoacylase 1 Deficiency 35
1640 c INF145 Infantile Liver Failure Syndrome 1 35
1641 WRN004 Wrinkly Skin Syndrome 35
1642 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 34
1643 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
1644 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1645 P PRR025 Perrault Syndrome 33
1646 SNG007 Sengers Syndrome 33
1647 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 33
1648 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 32
1649 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 32
1650 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
1651 c SCH069 Schindler Disease, Type I 32
1652 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1653 HMM002 Haim-Munk Syndrome 31
1654 GCH018 Gaucher Disease, Perinatal Lethal 31
1655 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
1656 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31
1657 GLY058 Glycogen Storage Disease 0, Liver 30
1658 c HYP606 Hypokalemic Periodic Paralysis, Type 2 30
1659 HSD004 Hsd10 Mitochondrial Disease 30
1660 BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
1661 c EXS020 Exostoses, Multiple, Type Ii 29
1662 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 29
1663 CMB026 Combined Oxidative Phosphorylation Deficiency 12 28
1664 c MNT185 Mental Retardation, Autosomal Dominant 7 28
1665 P MNT319 Mental Retardation, Autosomal Dominant 20 28
1666 BLC009 Bile Acid Synthesis Defect, Congenital, 4 28
1667 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1668 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 28
1669 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
1670 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 28
1671 IMM080 Immunodeficiency 23 28
1672 c LVR030 Liver Failure, Infantile, Transient 27
1673 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 27
1674 c MNT212 Mental Retardation, Autosomal Dominant 26 27
1675 DFN350 Deafness, Aminoglycoside-Induced 26
1676 CKS001 Ck Syndrome 26
1677 c HYP699 Hyperekplexia 1 26
1678 c MNT145 Mental Retardation, Autosomal Recessive 5 26
1679 c MNT143 Mental Retardation, Autosomal Dominant 13 26
1680 P HRD084 Hereditary Cerebral Amyloid Angiopathy 26
1681 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
1682 c MNT210 Mental Retardation, Autosomal Recessive 42 25
1683 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 25
1684 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25
1685 c PRR026 Perrault Syndrome 5 25
1686 c MNT157 Mental Retardation, Autosomal Dominant 18 25
1687 MTC065 Mitochondrial Dna Depletion Syndrome 8a 25
1688 c MNT280 Mental Retardation, Autosomal Dominant 43 25
1689 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 25
1690 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1691 c MNT322 Mental Retardation, Autosomal Dominant 27 25
1692 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 25
1693 c PRR020 Perrault Syndrome 1 25
1694 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 25
1695 GLT011 Glutamine Deficiency, Congenital 25
1696 c MNT270 Mental Retardation, Autosomal Recessive 53 25
1697 c MNT241 Mental Retardation, Autosomal Dominant 32 24
1698 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 24
1699 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 24
1700 c MNT166 Mental Retardation, Autosomal Recessive 39 24
1701 c MNT222 Mental Retardation, Autosomal Dominant 29 24
1702 c MNT214 Mental Retardation, Autosomal Dominant 24 24
1703 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1704 c MNT287 Mental Retardation, Autosomal Recessive 57 24
1705 c OPT064 Optic Atrophy 11 24
1706 c MNT246 Mental Retardation, Autosomal Dominant 38 24
1707 c MNT213 Mental Retardation, Autosomal Recessive 40 24
1708 c SPS208 Spastic Ataxia 4, Autosomal Recessive 23
1709 ART103 Arthrogryposis, Mental Retardation, and Seizures 23
1710 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1711 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 23
1712 c MNT150 Mental Retardation, Autosomal Recessive 15 23
1713 c MNT239 Mental Retardation, Autosomal Dominant 35 23
1714 c MNT155 Mental Retardation, Autosomal Recessive 2 23
1715 c MNT219 Mental Retardation, Autosomal Dominant 30 23
1716 c MNT262 Mental Retardation, Autosomal Dominant 42 23
1717 c FML249 Familial Amyloidosis, Finnish Type 23
1718 c MNT226 Mental Retardation, Autosomal Dominant 31 23
1719 c MNT216 Mental Retardation, Autosomal Recessive 41 23
1720 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1721 P PRM016 Primary Optic Atrophy 23
1722 c MNT321 Mental Retardation, Autosomal Recessive 37 23
1723 c MNT238 Mental Retardation, Autosomal Dominant 34 22
1724 c MNT183 Mental Retardation, Autosomal Recessive 36 22
1725 c MNT273 Mental Retardation, Autosomal Dominant 44 22
1726 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1727 CYS045 Cystinosis, Adult Nonnephropathic 22
1728 c MNT282 Mental Retardation, Autosomal Recessive 55 22
1729 c MNT159 Mental Retardation, Autosomal Dominant 19 22
1730 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1731 c MNT211 Mental Retardation, Autosomal Dominant 23 22
1732 c PRR024 Perrault Syndrome 3 22
1733 c MNT245 Mental Retardation, Autosomal Dominant 36 22
1734 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1735 c OPT023 Optic Atrophy 2 22
1736 c MNT236 Mental Retardation, Autosomal Dominant 39 21
1737 c MNT244 Mental Retardation, Autosomal Recessive 49 21
1738 HYP187 Hypertryptophanemia 21
1739 c MNT179 Mental Retardation, Autosomal Dominant 21 21
1740 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1741 c INF138 Infantile Liver Failure Syndrome 2 21
1742 c MNT325 Mental Retardation, Autosomal Recessive 61 21
1743 c MNT177 Mental Retardation, Autosomal Recessive 27 21
1744 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
1745 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1746 c OPT025 Optic Atrophy 6 21
1747 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1748 c PRR021 Perrault Syndrome 4 21
1749 c OPT060 Optic Atrophy 8 21
1750 c ATP003 Atp6v0a2-Related Cutis Laxa 21
1751 c MNT323 Mental Retardation, Autosomal Dominant 48 21
1752 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
1753 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 21
1754 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 20
1755 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 20
1756 c MNT234 Mental Retardation, Autosomal Recessive 48 20
1757 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20
1758 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1759 HRL006 Harel-Yoon Syndrome 20
1760 c MNT154 Mental Retardation, Autosomal Recessive 14 20
1761 c MNT328 Mental Retardation, Autosomal Dominant 52 20
1762 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1763 c MNT215 Mental Retardation, Autosomal Recessive 43 20
1764 c HYP510 Hyperekplexia 2 20
1765 c OPT065 Optic Atrophy 9 20
1766 c MNT225 Mental Retardation, Autosomal Recessive 47 20
1767 c MNT272 Mental Retardation, Autosomal Dominant 41 19
1768 c MNT324 Mental Retardation, Autosomal Dominant 49 19
1769 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 19
1770 c MNT263 Mental Retardation, Autosomal Recessive 51 19
1771 c HYP445 Hypomagnesemia 6, Renal 19
1772 c MNT162 Mental Retardation, Autosomal Recessive 24 19
1773 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1774 c MNT329 Mental Retardation, Autosomal Dominant 53 19
1775 CPP001 Copper Deficiency, Familial Benign 18
1776 c MNT286 Mental Retardation, Autosomal Dominant 45 18
1777 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1778 c MNT327 Mental Retardation, Autosomal Dominant 51 18
1779 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1780 c MNT165 Mental Retardation, Autosomal Recessive 28 18
1781 c PRR022 Perrault Syndrome 2 18
1782 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1783 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1784 c MNT330 Mental Retardation, Autosomal Dominant 54 18
1785 c HYP519 Hyperekplexia 3 18
1786 c MNT326 Mental Retardation, Autosomal Dominant 50 18
1787 c EXS021 Exostoses, Multiple, Type Iii 18
1788 c MNT151 Mental Retardation, Autosomal Recessive 18 18
1789 c MNT186 Mental Retardation, Autosomal Dominant 10 18
1790 c MNT184 Mental Retardation, Autosomal Dominant 11 18
1791 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1792 c MNT279 Mental Retardation, Autosomal Dominant 47 18
1793 c MNT182 Mental Retardation, Autosomal Recessive 19 18
1794 c MNT281 Mental Retardation, Autosomal Recessive 59 18
1795 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1796 c MNT170 Mental Retardation, Autosomal Recessive 23 17
1797 c OPT024 Optic Atrophy 5 17
1798 c MNT278 Mental Retardation, Autosomal Dominant 46 17
1799 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1800 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1801 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1802 c PRR033 Perrault Syndrome 6 16
1803 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
1804 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
1805 c HYP825 Hyperekplexia 4 15
1806 c MNT332 Mental Retardation, Autosomal Dominant 56 14
1807 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 14
1808 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 14
1809 c SPR097 Sporadic Hyperekplexia 13
1810 c OPT059 Optic Atrophy 4 12
1811 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
1812 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 11
1813 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 11
1814 c SCN047 Secondary Pulmonary Hemosiderosis 9
1815 c ATS394 Autosomal Dominant Mental Retardation 55 8
1816 c ATS395 Autosomal Dominant Mental Retardation 61 8
1817 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 7
1818 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
1819 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1820 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
1821 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
1822 CYS001 Cystic Fibrosis 84
1823 ADR007 Adrenoleukodystrophy 71
1824 SMT004 Smith-Lemli-Opitz Syndrome 68
1825 P PRP003 Porphyria Cutanea Tarda 66
1826 TNG002 Tangier Disease 64
1827 ABT001 Abetalipoproteinemia 63
1828 LSC001 Lesch-Nyhan Syndrome 62
1829 LYS012 Lysosomal Acid Lipase Deficiency 60
1830 KRN002 Kearns-Sayre Syndrome 60
1831 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
1832 WLK001 Walker-Warburg Syndrome 59
1833 P NPH012 Nephrotic Syndrome 59
1834 c LPD015 Lipodystrophy, Familial Partial, Type 2 59
1835 LBR002 Leber Hereditary Optic Neuropathy 57
1836 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
1837 GLB001 Gilbert Syndrome 56
1838 PSD014 Pseudopseudohypoparathyroidism 55
1839 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 52
1840 ALB001 Albright's Hereditary Osteodystrophy 52
1841 c FML012 Familial Partial Lipodystrophy 52
1842 P SJG002 Sjogren-Larsson Syndrome 51
1843 CRB151 Cerebral Creatine Deficiency Syndrome 1 50
1844 MSC077 Muscle Eye Brain Disease 50
1845 RNL024 Renal Glucosuria 49
1846 P PRT078 Partial Lipodystrophy 46
1847 c NPH055 Nephrotic Syndrome, Type 1 46
1848 PRS127 Pearson Marrow-Pancreas Syndrome 44
1849 c LPD019 Lipodystrophy, Partial, Acquired 43
1850 MTC054 Mitochondrial Dna Depletion Syndrome 7 41
1851 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 41
1852 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 40
1853 PRM237 Primary Hypomagnesemia 39
1854 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
1855 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37
1856 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1857 HYP550 Hypomagnesemia 1, Intestinal 35
1858 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 35
1859 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
1860 c FML015 Familial Nephrotic Syndrome 34
1861 c NPH049 Nephrotic Syndrome, Type 2 34
1862 BJR001 Bjornstad Syndrome 32
1863 c OPT068 Optic Atrophy 3, Autosomal Dominant 32
1864 BLC007 Bile Acid Synthesis Defect, Congenital, 1 31
1865 c NPH054 Nephrotic Syndrome, Type 3 30
1866 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
1867 c NPH072 Nephrotic Syndrome, Type 7 29
1868 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
1869 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 26
1870 c LPD034 Lipodystrophy, Familial Partial, Type 4 25
1871 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1872 c NPH047 Nephrotic Syndrome, Type 4 25
1873 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
1874 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1875 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 22
1876 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 22
1877 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
1878 c NPH073 Nephrotic Syndrome, Type 8 21
1879 c NPH074 Nephrotic Syndrome, Type 9 21
1880 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
1881 c NPH070 Nephrotic Syndrome, Type 6 20
1882 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 20
1883 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
1884 c NPH096 Nephrotic Syndrome, Type 12 19
1885 c NPH094 Nephrotic Syndrome 14 19
1886 c NPH095 Nephrotic Syndrome, Type 11 19
1887 BLD065 Blue Diaper Syndrome 19
1888 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1889 c NPH076 Nephrotic Syndrome, Type 10 17
1890 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
1891 c NPH092 Nephrotic Syndrome 15 17
1892 c NPH093 Nephrotic Syndrome, Type 13 17
1893 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 15
1894 c NPH101 Nephrotic Syndrome 16 15
1895 c SJG003 Sjogren-Larsson-Like Syndrome 6
1896 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59
1897 FNC009 Fanconi-Bickel Syndrome 53
1898 MTC056 Mitochondrial Dna Depletion Syndrome 4a 51
1899 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
1900 AMY082 Amyloidosis, Familial Visceral 46
1901 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
1902 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 36
1903 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
1904 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
1905 TMT002 Temtamy Preaxial Brachydactyly Syndrome 29
1906 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
1907 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27
1908 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1909 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
1910 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
1911 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 44
1912 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 38
1913 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
1914 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 35
1915 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
1916 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
1917 KRT002 Keratomalacia 54
1918 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21



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