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Metabolic Diseases Category (2489 diseases)


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

# Family MCID Name MIFTS
1 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 44
2 HYP835 Hypothalamic Obesity 39
3 LPT006 Leptin Receptor Deficiency 47
4 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 18
5 MMS001 Momo Syndrome 27
6 DRG021 Drug Metabolism, Poor, Cyp2c19-Related 31
7 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 28
8 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 14
9 CHN016 Cohen Syndrome 57
10 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 28
11 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
12 HYD021 Hydrocephalus Obesity Hypogonadism 16
13 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 35
14 c BDY020 Body Mass Index Quantitative Trait Locus 19 51
15 CNG376 Congenital Leptin Deficiency 25
16 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 12
17 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 7
18 c BDY005 Body Mass Index Quantitative Trait Locus 9 49
19 c BDY015 Body Mass Index Quantitative Trait Locus 12 48
20 c BDY010 Body Mass Index Quantitative Trait Locus 4 48
21 c BDY019 Body Mass Index Quantitative Trait Locus 18 48
22 c BDY017 Body Mass Index Quantitative Trait Locus 14 46
23 c BDY006 Body Mass Index Quantitative Trait Locus 8 45
24 c BDY012 Body Mass Index Quantitative Trait Locus 7 45
25 THY064 Thyroid Hormone Metabolism, Abnormal 29
26 P INB001 Inborn Amino Acid Metabolism Disorder 11
27 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 35
28 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 32
29 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 31
30 MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 24
31 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
32 MRB006 Morbid Obesity and Spermatogenic Failure 19
33 SRF006 Surfactant Dysfunction 36
34 PRP098 Proprotein Convertase 1/3 Deficiency 32
35 OBS037 Obesity-Hypoventilation Syndrome 46
36 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 25
37 CMR002 Coumarin Resistance 56
38 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44
39 OBS015 Obesity, Hyperphagia, and Developmental Delay 35
40 RHH001 Rohhad 27
41 DVL023 Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism 23
42 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 22
43 AYZ001 Ayazi Syndrome 10
44 CLP006 Clopidogrel Resistance 41
45 THP001 Thiopurine S Methyltranferase Deficiency 21
46 RTN173 Retinal Dystrophy and Obesity 21
47 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 17
48 OBS050 Obesity Due to Congenital Leptin Deficiency 14
49 P PRD006 Prader-Willi Syndrome 60
50 c BDY011 Body Mass Index Quantitative Trait Locus 10 47
51 IRN004 Iron-Refractory Iron Deficiency Anemia 45
52 DSR002 Disorders of Intracellular Cobalamin Metabolism 32
53 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 20
54 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
55 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
56 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
57 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
58 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 10
59 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 8
60 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
61 c PRD024 Prader-Willi Syndrome Due to Translocation 6
62 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
63 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
64 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
65 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
66 GNT051 Genetic Non-Syndromic Obesity 3
67 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 2
68 P LDD007 Liddle Syndrome 1 58
69 c LDD008 Liddle Syndrome 2 20
70 c LDD009 Liddle Syndrome 3 18
71 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 17
72 CHL110 Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency 12
73 P BRD002 Bardet-Biedl Syndrome 66
74 c BRD010 Bardet-Biedl Syndrome 1 61
75 c BDY021 Body Mass Index Quantitative Trait Locus 20 50
76 c PRM015 Primary Cerebellar Degeneration 39
77 c BRD035 Bardet-Biedl Syndrome 15 39
78 P CRB059 Cerebellar Degeneration 38
79 CRT020 Cortisone Reductase Deficiency 35
80 GNT167 Genetic Obesity 35
81 MTB016 Metabolic Myopathy 34
82 HYP364 Hyperostosis Frontalis Interna 29
83 c SBC039 Subacute Cerebellar Degeneration 22
84 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21
85 c THP005 Thiopurines, Poor Metabolism of, 2 17
86 DPL003 Diploid-Triploid Mosaicism 15
87 DRG023 Drug Metabolism, Altered, Ces1-Related 12
88 DRG022 Drug Metabolism, Altered, Cyp2c8-Related 12
89 P HML002 Hemolytic Anemia 64
90 c ANM038 Anemia, Autoimmune Hemolytic 61
91 c BRD014 Bardet-Biedl Syndrome 2 56
92 P MGL001 Megaloblastic Anemia 54
93 c BRD016 Bardet-Biedl Syndrome 4 48
94 c CNG027 Congenital Hemolytic Anemia 48
95 c BRD013 Bardet-Biedl Syndrome 12 46
96 P SXD002 Sex Development Disorder 45
97 ACT149 Acetaminophen Metabolism 35
98 SYN116 Syndromic Obesity 30
99 SHR107 Short Stature-Obesity Syndrome 25
100 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 24
101 ANT078 Antipyrine Metabolism 24
102 c SYN140 Syndrome with 46,xy Disorder of Sex Development 23
103 AMN012 Aminoacidopathies 22
104 ERY030 Erythrocyte Lactate Transporter Defect 21
105 DRG020 Drug Metabolism, Poor, Cyp2d6-Related 21
106 c RRH032 Rare Hemolytic Anemia 19
107 c 46X060 46,xx Disorder of Sex Development 18
108 TGL001 Tiglic Acidemia 14
109 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 13
110 c DSR027 Disorders of Vitamin D Metabolism 13
111 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 12
112 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 11
113 OBS060 Obesity Due to Sim1 Deficiency 9
114 c RRC006 Rare Acquired Hemolytic Anemia 9
115 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 9
116 RRM017 Rare Metabolic Liver Disease 8
117 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 7
118 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
119 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 6
120 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
121 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 6
122 HYL006 Hyaluronan Metabolism, Defect in 5
123 c HML056 Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes 5
124 c HML057 Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies 5
125 MTB010 Metabolic Diseases with Epilepsy 5
126 P CNS016 Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder 5
127 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
128 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 4
129 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
130 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
131 MTB014 Metabolic Disease with Skin Involvement 4
132 CHR069 Chronic Metabolic Polyneuropathy 4
133 MTB015 Metabolic Disease with Cataract 4
134 OBS129 Obsolete: Laminopathy Type Decaudain-Vigouroux 4
135 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 4
136 c CNS020 Constitutional Anemia Due to Iron Metabolism Disorder 4
137 OBS083 Obesity Due to Congenital Leptin Resistance 3
138 OVR124 Overgrowth/obesity Syndrome 3
139 OBS626 Obsolete: Miscellaneous Metabolic Disease Associated with Bone Anomaly 3
140 c CNS017 Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder 3
141 P RRC005 Rare Constitutional Anemia 3
142 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 3
143 OBS566 Obsolete: X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome 3
144 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
145 NNR036 Non-Rare Metabolic Disease 3
146 DVL025 Developmental Anomaly of Metabolic Origin 3
147 OBS235 Obsolete: Acquired Metabolic Neuropathy 3
148 AMN018 Amino Acid or Protein Metabolism Disease with Epilepsy 3
149 ENR004 Energy Metabolism Disorder with Epilepsy 3
150 STR105 Sterol Metabolism Disorder with Epilepsy 3
151 OTH015 Other Metabolic Disease with Epilepsy 3
152 ATS458 Autosomal Recessive Metabolic Cerebellar Ataxia 3
153 OBS780 Obsolete: Ichthyosis Associated with a Cornified Cell Envelope and Epidermal Lipid Metabolism Anomaly 3
154 GNT071 Genetic Overgrowth/obesity Syndrome 2
155 OBS567 Obsolete: X-Linked Intellectual Disability-Obesity-Short Stature Syndrome 2
156 OBS052 Obesity, Hyperphagia, and Severe Developmental Delay Due Totrkb Gene Deficiency 2
157 OBS733 Obsolete: Metabolic Disease with Pigmentary Retinitis 2
158 OBS734 Obsolete: Metabolic Disease with Macular Cherry-Red Spot 2
159 OBS735 Obsolete: Metabolic Disease with Corneal Opacity 2
160 OBS736 Obsolete: Metabolic Disease with Cataract 2
161 OBS749 Obsolete: Metabolic Disease Associated with Ocular Features 2
162 OBS779 Obsolete: Ichthyosis Associated with a Protein Catabolism Anomaly 2
163 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
164 P DMN001 Diamond-Blackfan Anemia 69
165 SCH036 Scheie Syndrome 68
166 c GLY008 Glycogen Storage Disease Ii 68
167 P MTR004 Maturity-Onset Diabetes of the Young 66
168 P NPH012 Nephrotic Syndrome 65
169 P ENC018 Encephalopathy 64
170 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63
171 HYP066 Hyperglycemia 63
172 P EPL198 Epilepsy, Myoclonic Juvenile 62
173 RFS006 Refsum Disease, Classic 62
174 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62
175 SDD001 Sudden Infant Death Syndrome 61
176 CRB011 Cerebrotendinous Xanthomatosis 61
177 c PRX045 Peroxisome Biogenesis Disorder 1b 61
178 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 61
179 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 60
180 c LPM012 Lipomatosis, Multiple 60
181 c MCP049 Mucopolysaccharidosis, Type Vii 60
182 ERL001 Early Myoclonic Encephalopathy 60
183 ARG002 Argininosuccinic Aciduria 59
184 c GCH016 Gaucher Disease, Type Ii 59
185 c PRT132 Protoporphyria, Erythropoietic, 1 59
186 c GM1007 Gm1 Gangliosidosis 59
187 c GM1004 Gm1-Gangliosidosis, Type I 58
188 MVL001 Mevalonic Aciduria 58
189 c PRX059 Peroxisome Biogenesis Disorder 1a 57
190 c NPH055 Nephrotic Syndrome, Type 1 56
191 CRN239 Carnitine Deficiency, Systemic Primary 56
192 PRT038 Protein-Energy Malnutrition 56
193 VRG001 Variegate Porphyria 55
194 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 55
195 MTC027 Mitochondrial Trifunctional Protein Deficiency 55
196 GLC003 Glucose Intolerance 55
197 HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 55
198 c GCH017 Gaucher Disease, Type Iii 54
199 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
200 P MTC133 Mitochondrial Myopathy 53
201 FRB001 Farber Lipogranulomatosis 52
202 BRT005 Barth Syndrome 52
203 P HMC002 Homocystinuria 52
204 P LCT001 Lactic Acidosis 52
205 c CRP023 Carpenter Syndrome 1 51
206 PRN011 Pernicious Anemia 51
207 c DMN023 Diamond-Blackfan Anemia 1 51
208 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 51
209 c 3MT015 3-Methylglutaconic Aciduria, Type I 50
210 c CNT075 Central Precocious Puberty 50
211 P LPM005 Lipomatosis 49
212 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
213 FML026 Familial Lipoprotein Lipase Deficiency 49
214 PRD004 Prediabetes Syndrome 49
215 P TRM004 Trimethylaminuria 49
216 c HMC035 Hemochromatosis, Type 4 49
217 P PRC019 Precocious Puberty 48
218 P NGH001 Night Blindness 48
219 CLC006 Calcinosis 48
220 VTM002 Vitamin B12 Deficiency 48
221 XNT003 Xanthomatosis 48
222 CNZ001 Coenzyme Q10 Deficiency Disease 48
223 SPH010 Sphingolipidosis 47
224 HYP025 Hyperphosphatemia 47
225 c GM1005 Gm1-Gangliosidosis, Type Ii 47
226 EPL131 Epilepsy, Pyridoxine-Dependent 47
227 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 45
228 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
229 c HMC009 Hemochromatosis Type 2 45
230 P GNG009 Gangliosidosis 45
231 P HYP058 Hypervitaminosis a 45
232 P ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 45
233 c NPH049 Nephrotic Syndrome, Type 2 45
234 c SPN308 Spinocerebellar Ataxia 28 44
235 P HYP347 Hypotonia-Cystinuria Syndrome 44
236 c 3MT014 3-Methylglutaconic Aciduria, Type V 44
237 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 44
238 PRS127 Pearson Marrow-Pancreas Syndrome 44
239 c GM2006 Gm2 Gangliosidosis 43
240 SLT014 Salt and Pepper Developmental Regression Syndrome 43
241 c NPH054 Nephrotic Syndrome, Type 3 42
242 c GLY098 Glycogen Storage Disease, Type Ixd 42
243 ARB001 Ariboflavinosis 41
244 c HYP057 Hypervitaminosis D 41
245 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
246 c FML015 Familial Nephrotic Syndrome 40
247 c BRD048 Bardet-Biedl Syndrome 18 40
248 GBT001 Gaba-Transaminase Deficiency 39
249 c NPH070 Nephrotic Syndrome, Type 6 39
250 c MYC083 Myoclonic Epilepsy, Familial Infantile 39
251 c GM1006 Gm1-Gangliosidosis, Type Iii 39
252 CHL045 Choline Deficiency Disease 39
253 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 38
254 c GLY044 Glycogen Storage Disease Ixc 38
255 c GLY016 Glycogen Storage Disease Ib 38
256 BTN004 Biotin Deficiency 38
257 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 38
258 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 38
259 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
260 END028 Endemic Goiter 37
261 c BNG079 Benign Adult Familial Myoclonic Epilepsy 36
262 PPC001 Pepck 1 Deficiency 36
263 KLL014 Kelley-Seegmiller Syndrome 35
264 PHS022 Phosphoserine Phosphatase Deficiency 35
265 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 35
266 CHL050 Cholesterol Ester Storage Disease 35
267 c MYC068 Myoclonic Epilepsy of Infancy 34
268 c HYP716 Hypermanganesemia with Dystonia 1 34
269 SZR028 Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 34
270 c DMN021 Diamond-Blackfan Anemia 6 34
271 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 34
272 FLC001 Folic Acid Deficiency Anemia 34
273 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
274 c BRD045 Bardet-Biedl Syndrome 19 33
275 MTH077 Methylmalonic Aciduria, Cbla Type 33
276 MNC004 Monoclonal Paraproteinemia 33
277 CLS049 Classic Phenylketonuria 33
278 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 33
279 PRX005 Peroxisomal Biogenesis Disorder 32
280 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 32
281 c NPH072 Nephrotic Syndrome, Type 7 32
282 c NPH047 Nephrotic Syndrome, Type 4 32
283 c MTC116 Mitochondrial Myopathy, Infantile, Transient 32
284 c BRD021 Bardet-Biedl Syndrome 9 32
285 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
286 PYR016 Pyridoxine Deficiency 31
287 c PRX060 Peroxisome Biogenesis Disorder 5a 31
288 c PRC047 Precocious Puberty, Central, 1 31
289 MCL022 Mucolipidoses 31
290 MYP097 Myopathy with Lactic Acidosis, Hereditary 31
291 c PRP091 Porphyria Cutanea Tarda, Type I 31
292 c PRX051 Peroxisome Biogenesis Disorder 6a 31
293 c PRX057 Peroxisome Biogenesis Disorder 4a 30
294 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
295 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 30
296 c PRX065 Peroxisome Biogenesis Disorder 3a 30
297 c PRX054 Peroxisome Biogenesis Disorder 12a 30
298 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
299 c EPL188 Epilepsy, Progressive Myoclonic, 10 30
300 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 30
301 CRT011 Carotenemia 30
302 c CRP022 Carpenter Syndrome 2 29
303 c PRX063 Peroxisome Biogenesis Disorder 2a 29
304 c TYP027 Type 1 Diabetes Mellitus 10 29
305 c TYP032 Type 1 Diabetes Mellitus 6 29
306 c GLY017 Glycogen Storage Disease Ic 29
307 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 29
308 c PRX056 Peroxisome Biogenesis Disorder 11b 29
309 c PRX050 Peroxisome Biogenesis Disorder 9b 29
310 c PRX055 Peroxisome Biogenesis Disorder 11a 29
311 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 29
312 CPP004 Copper Deficiency Myelopathy 28
313 c EPL155 Epilepsy, Progressive Myoclonic, 8 28
314 c NPH096 Nephrotic Syndrome, Type 12 28
315 c PRX043 Peroxisome Biogenesis Disorder 6b 28
316 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 28
317 ACD011 Acid Phosphatase Deficiency 28
318 c TYP035 Type 1 Diabetes Mellitus 11 28
319 c DMN017 Diamond-Blackfan Anemia 10 28
320 c PRX048 Peroxisome Biogenesis Disorder 10a 28
321 c EPL134 Epilepsy, Progressive Myoclonic 7 27
322 c PRX046 Peroxisome Biogenesis Disorder 7a 27
323 c EPL210 Epilepsy, Progressive Myoclonic, 6 27
324 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 27
325 c PRX053 Peroxisome Biogenesis Disorder 14b 27
326 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 27
327 c TYP037 Type 1 Diabetes Mellitus 13 27
328 c TYP033 Type 1 Diabetes Mellitus 7 27
329 c GLY023 Glycogen Storage Disease Type 0 27
330 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 27
331 c EPL154 Epilepsy, Progressive Myoclonic, 9 27
332 HMC001 Homocarnosinosis 27
333 c NPH076 Nephrotic Syndrome, Type 10 27
334 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
335 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
336 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
337 c PRX047 Peroxisome Biogenesis Disorder 5b 26
338 c PRX058 Peroxisome Biogenesis Disorder 4b 26
339 c GLY001 Glycogen Storage Disease Ix 26
340 c EPL207 Epilepsy, Progressive Myoclonic, 1b 26
341 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 26
342 c TYP031 Type 1 Diabetes Mellitus 5 26
343 c NPH102 Nephrotic Syndrome, Type 14 26
344 c DMN006 Diamond-Blackfan Anemia 3 26
345 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 26
346 c DMN022 Diamond-Blackfan Anemia 9 25
347 c PRX052 Peroxisome Biogenesis Disorder 13a 25
348 c PRX091 Peroxisome Biogenesis Disorder 8a 25
349 c DMN018 Diamond-Blackfan Anemia 5 25
350 c MTC074 Metachromatic Leukodystrophy, Adult Form 25
351 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 25
352 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 25
353 CMB016 Combined Oxidative Phosphorylation Deficiency 5 25
354 c DMN019 Diamond-Blackfan Anemia 4 25
355 c PRX066 Peroxisome Biogenesis Disorder 3b 25
356 c DMN024 Diamond-Blackfan Anemia 7 25
357 c HYP713 Hypermanganesemia with Dystonia 2 25
358 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
359 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 25
360 c NPH074 Nephrotic Syndrome, Type 9 25
361 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 24
362 c NPH073 Nephrotic Syndrome, Type 8 24
363 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 24
364 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 24
365 MTH040 Methylmalonyl-Coa Epimerase Deficiency 24
366 c PRX062 Peroxisome Biogenesis Disorder 8b 24
367 c DMN020 Diamond-Blackfan Anemia 8 24
368 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 24
369 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 24
370 c DMN005 Diamond-Blackfan Anemia 2 24
371 LCT017 Lactate Dehydrogenase B Deficiency 24
372 c NPH103 Nephrotic Syndrome, Type 15 24
373 c NPH095 Nephrotic Syndrome, Type 11 24
374 c NPH105 Nephrotic Syndrome, Type 17 24
375 c BRD051 Bardet-Biedl Syndrome 20 23
376 CMB048 Combined Oxidative Phosphorylation Deficiency 15 23
377 c TYP036 Type 1 Diabetes Mellitus 12 23
378 MYP149 Myopathy, Mitochondrial, and Ataxia 23
379 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 23
380 P PRX064 Peroxisome Biogenesis Disorder 2b 23
381 c GLY006 Glycogen Storage Disease Viii 23
382 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 23
383 c PRX068 Peroxisome Biogenesis Disorder 7b 23
384 P HYP821 Hypermanganesemia with Dystonia 23
385 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 23
386 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 23
387 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 23
388 c PRC046 Precocious Puberty, Central, 2 23
389 MTC025 Mitochondrial Myopathy with Diabetes 23
390 ATP003 Atp6v0a2-Related Cutis Laxa 23
391 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 23
392 c TYP034 Type 1 Diabetes Mellitus 8 22
393 GLY054 Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency 22
394 CMB065 Combined Oxidative Phosphorylation Deficiency 26 22
395 c DMN029 Diamond-Blackfan Anemia 11 22
396 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 22
397 MTC140 Mitochondrial Dna Maintenance Defects 22
398 c TYP038 Type 1 Diabetes Mellitus 15 22
399 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 22
400 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
401 c DMN028 Diamond-Blackfan Anemia 12 21
402 c NPH106 Nephrotic Syndrome, Type 18 21
403 c TYP030 Type 1 Diabetes Mellitus 4 21
404 c TYP039 Type 1 Diabetes Mellitus 17 21
405 CMB076 Combined Oxidative Phosphorylation Deficiency 31 21
406 c TYP040 Type 1 Diabetes Mellitus 18 21
407 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 21
408 c GLY093 Glycogen Storage Disease Ixa 21
409 c NPH104 Nephrotic Syndrome, Type 16 20
410 WTB001 Wet Beriberi 20
411 MRC009 Mercaptolactate-Cysteine Disulfiduria 20
412 c NPH107 Nephrotic Syndrome, Type 19 20
413 c PRX089 Peroxisome Biogenesis Disorder 10b 20
414 LYS028 Lysosomal Glycogen Storage Disease 20
415 c DMN030 Diamond-Blackfan Anemia 13 20
416 c EPL217 Epilepsy, Juvenile Myoclonic 10 20
417 CRB155 Carbonic Anhydrase Va Deficiency 19
418 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 19
419 B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 19
420 CMB085 Combined Oxidative Phosphorylation Deficiency 35 19
421 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 19
422 c DMN047 Diamond-Blackfan Anemia 18 19
423 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 19
424 c NPH093 Nephrotic Syndrome, Type 13 19
425 c PRM209 Primary Trimethylaminuria 19
426 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 19
427 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 19
428 PRM123 Paramyloidosis 18
429 c DMN039 Diamond-Blackfan Anemia 17 18
430 PHS019 Phosphohydroxylysinuria 18
431 c DRY002 Dry Beriberi 18
432 c TYP029 Type 1 Diabetes Mellitus 3 18
433 c DMN040 Diamond-Blackfan Anemia 16 18
434 c DMN045 Diamond-Blackfan Anemia-Like 18
435 c PRT135 Protoporphyria, Erythropoietic, 2 18
436 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
437 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 17
438 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 17
439 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 17
440 c DMN049 Diamond-Blackfan Anemia 20 17
441 VLN001 Valinemia 17
442 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 16
443 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 16
444 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 16
445 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16
446 c MYC085 Myoclonic Epilepsy, Juvenile 3 16
447 TRC120 Tricarboxylic Acid Cycle, Defect of 16
448 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 16
449 c MYC086 Myoclonic Epilepsy, Juvenile 4 16
450 DSR057 Disorder of Glycolysis 15
451 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 15
452 LKT001 Leukotriene C4 Synthase Deficiency 15
453 c DMN048 Diamond-Blackfan Anemia 19 15
454 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 15
455 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 15
456 c NPH108 Nephrotic Syndrome, Type 20 15
457 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 15
458 GNT042 Genetic Recurrent Myoglobinuria 15
459 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
460 LYS024 Lysosomal and Lipase Deficiency 14
461 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 14
462 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 14
463 c EPL186 Epilepsy, Juvenile Myoclonic 9 14
464 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
465 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 14
466 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 14
467 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
468 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 13
469 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
470 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 13
471 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 12
472 c CNG590 Congenital and Infantile Nephrotic Syndrome 12
473 c ACQ002 Acquired Night Blindness 12
474 FLN005 Folinic Acid-Responsive Seizures 12
475 LPC004 Lipoic Acid Biosynthesis Defects 11
476 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
477 OLG024 Oligosaccharidosis 11
478 MTH046 Methylmalonic Acidemia Without Homocystinuria 11
479 c EPL009 Epilepsy Progressive Myoclonic Type 3 11
480 c ADL083 Adult-Onset Citrullinemia Type I 10
481 c SCN039 Secondary Central Precocious Puberty 10
482 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 9
483 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
484 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 8
485 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 8
486 THM026 Thiamine Deficiency Disease 8
487 c LCT020 Lactic Acidosis, Chronic Adult Form 8
488 c GM2001 Gm2 Gangliosidosis, 0 Variant 8
489 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 8
490 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
491 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 7
492 c CNG348 Congenital Sialidosis Type 2 7
493 c RRP025 Rare Precocious Puberty 7
494 DSR015 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis 6
495 P PRX076 Peroxisomal Beta-Oxidation Disorder 6
496 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 6
497 P DSR041 Disorder of Multiple Glycosylation 6
498 DBT003 Diabetic Peripheral Angiopathy 6
499 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 6
500 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
501 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
502 GLC108 Gluconeogenesis Disorder 6
503 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 5
504 DSR036 Disorder of Mineral Absorption and Transport 5
505 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 5
506 CRB012 Cerebral Folate Receptor Alpha Deficiency 5
507 c LCT010 Lactic Acidosis Congenital Infantile 5
508 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
509 STR107 Sterol Biosynthesis Disorder 5
510 CLS056 Classic Organic Aciduria 5
511 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 5
512 DFC008 Defect in Conserved Oligomeric Golgi Complex 4
513 MTC184 Mitochondrial Oxidative Phosphorylation Disorder Due to a Duplication of Mitochondrial Dna 4
514 c MTC192 Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna 4
515 P SYC001 Say Carpenter Syndrome 4
516 NDH003 Nad Hx Epimerase Deficiency 3
517 ADN058 Adenylosuccinase Lyase Deficiency 3
518 MTC187 Mitochondrial Oxidative Phosphorylation Disorder with No Known Mechanism 3
519 P DSR042 Disorder of Protein O-Glycosylation 3
520 DSR044 Disorder of Lysosomal-Related Organelles 3
521 DSR047 Disorder of Fucoglycosan Synthesis 3
522 DSR066 Disorder of Ketolysis 3
523 DSR054 Disorder of Lipid Absorption and Transport 3
524 MTC185 Mitochondrial Substrate Carrier Disorder 2
525 MTC186 Mitochondrial Protein Import Disorder 2
526 DSR039 Disorder of Vitamin and Non-Protein Cofactor Absorption and Transport 2
527 DSR061 Disorder of Keton Body Transport 2
528 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 2
529 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 2
530 CHP002 Chops Syndrome 41
531 P TRC086 Trichohepatoenteric Syndrome 1 57
532 c TRC078 Trichohepatoenteric Syndrome 2 23
533 EFV001 Efavirenz, Poor Metabolism of 17
534 WST001 West Syndrome 61
535 P FTT008 Fatty Liver Disease, Nonalcoholic 1 58
536 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 56
537 P PSD015 Pseudohypoparathyroidism 54
538 P CRB045 Cerebellar Hypoplasia 53
539 ULN003 Ulnar-Mammary Syndrome 52
540 c PSD066 Pseudohypoparathyroidism, Type Ib 51
541 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 48
542 GLC106 Glucocorticoid Resistance, Generalized 48
543 c PSD092 Pseudohypoaldosteronism, Type Iie 45
544 P PSD003 Pseudohypoaldosteronism 45
545 ADP001 Adiposis Dolorosa 42
546 c PSD117 Pseudohypoparathyroidism, Type Ic 38
547 INT088 Intrinsic Factor Deficiency 34
548 c PSD090 Pseudohypoaldosteronism, Type Iia 32
549 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 32
550 c PSD104 Pseudohypoparathyroidism, Type Ii 31
551 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 29
552 P HYP658 Hypoplastic Amelogenesis Imperfecta 25
553 c PSD068 Pseudohypoaldosteronism, Type Iic 25
554 c TRN053 Transient Pseudohypoaldosteronism 25
555 c PSD094 Pseudohypoaldosteronism, Type Iib 23
556 c CRB209 Cerebellar Malformation 22
557 c BMN004 Biemond Syndrome Ii 20
558 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 19
559 MPL011 Maple Syrup Urine Disease, Mild Variant 18
560 P BMN001 Biemond Syndrome 14
561 c FTT007 Fatty Liver Disease, Nonalcoholic 2 12
562 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 12
563 OTH019 Other Metabolic Disease with Skin Involvement 4
564 RRH020 Rare Hereditary Metabolic Disease with Peripheral Neuropathy 3
565 MTB011 Metabolic Neurotransmission Anomaly with Epilepsy 3
566 MTB017 Metabolic Disease with Dementia 3
567 MTB018 Metabolic Disease with Intestinal Involvement 3
568 c BMN003 Biemond Syndrome Type 1 3
569 RRG012 Rare Genetic Parathyroid Disease and Phosphocalcic Metabolism Disorder 3
570 c HMC039 Hemochromatosis, Type 1 73
571 P HYP802 Hypocalcemia, Autosomal Dominant 1 69
572 HYP056 Hypoglycemia 68
573 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
574 c MCL062 Mucolipidosis Ii Alpha/beta 67
575 c MCP001 Mucopolysaccharidosis Iii 64
576 P HRM001 Hermansky-Pudlak Syndrome 64
577 LWC002 Lowe Oculocerebrorenal Syndrome 63
578 P GCH001 Gaucher's Disease 63
579 PRP001 Propionic Acidemia 63
580 c MCP050 Mucopolysaccharidosis, Type Ii 63
581 PPL049 Papillon-Lefevre Syndrome 63
582 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
583 P HYP750 Hypertriglyceridemia, Familial 62
584 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 62
585 CTR172 Citrullinemia, Classic 62
586 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
587 c MCP047 Mucopolysaccharidosis, Type Iva 61
588 ETN001 Eating Disorder 61
589 c MCP052 Mucopolysaccharidosis, Type Vi 61
590 NTR005 Nutritional Deficiency Disease 61
591 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 61
592 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61
593 P NMN002 Niemann-Pick Disease 60
594 P ERL057 Early Infantile Epileptic Encephalopathy 60
595 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
596 P PRP029 Porphyria 58
597 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 58
598 c MCL046 Mucolipidosis Iii Alpha/beta 58
599 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 57
600 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56
601 DYS192 Dystonia, Dopa-Responsive 56
602 P ZLL001 Zellweger Syndrome 56
603 P BRT004 Bartter Disease 56
604 c FML035 Familial Hyperlipidemia 56
605 MTC097 Mitochondrial Complex Iv Deficiency 55
606 CYS010 Cystinosis 55
607 HYP060 Hyperinsulinism 55
608 HYP005 Hypokalemia 55
609 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 55
610 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 54
611 c HRM005 Hermansky-Pudlak Syndrome 1 54
612 P HYP050 Hyperinsulinemic Hypoglycemia 54
613 c MCP043 Mucopolysaccharidosis, Type Iiia 54
614 LYS003 Lysinuric Protein Intolerance 54
615 P HYP838 Hyperlipidemia, Familial Combined, 3 54
616 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
617 HMS001 Hemosiderosis 54
618 c ALB020 Albinism, Oculocutaneous, Type Iii 53
619 ISV001 Isovaleric Acidemia 52
620 HYP014 Hyperuricemia 52
621 LYS002 Lysosomal Storage Disease 52
622 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
623 GST037 Gastroparesis 52
624 GLC012 Galactosialidosis 52
625 DNN001 Danon Disease 52
626 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 52
627 CRB150 Cerebral Creatine Deficiency Syndrome 2 52
628 ORT008 Orotic Aciduria 51
629 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 51
630 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 51
631 c HRM008 Hermansky-Pudlak Syndrome 5 51
632 c HMC021 Hemochromatosis, Type 2a 51
633 c XNT010 Xanthinuria, Type I 51
634 PYC001 Pycnodysostosis 51
635 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 50
636 c HRM006 Hermansky-Pudlak Syndrome 3 50
637 MCR004 Macroglobulinemia 50
638 CYS019 Cystathioninuria 50
639 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 49
640 c SPN330 Spondylocostal Dysostosis 5 49
641 c ACT078 Acute Porphyria 49
642 c L2H001 L-2-Hydroxyglutaric Aciduria 49
643 P OCL001 Ocular Albinism 48
644 MTB004 Metabolic Acidosis 48
645 HYP781 Hypoascorbemia 48
646 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
647 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 48
648 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 48
649 ALB002 Albinism 48
650 HYP017 Hypophosphatemia 48
651 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
652 OVR063 Overnutrition 47
653 P PRD021 Periodic Paralysis 47
654 MNC019 Monocarboxylate Transporter 1 Deficiency 47
655 P CNG003 Congenital Dyserythropoietic Anemia 47
656 VTM033 Vitamin K Deficiency Bleeding 47
657 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 47
658 c MCP044 Mucopolysaccharidosis, Type Iiib 47
659 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 47
660 GLC008 Glucose Metabolism Disease 47
661 NNT017 Neonatal Adrenoleukodystrophy 46
662 GLC022 Glucose/galactose Malabsorption 46
663 P KLF001 Kleefstra Syndrome 46
664 SBL008 Sea-Blue Histiocyte Disease 46
665 c BRT042 Bartter Syndrome, Type 3 46
666 c HMC010 Hemochromatosis, Type 3 46
667 PRX001 Peroxisomal Disease 45
668 P NLX004 Neu-Laxova Syndrome 1 45
669 GLY031 Glycoproteinosis 45
670 c BRD044 Bardet-Biedl Syndrome 17 45
671 c BRD018 Bardet-Biedl Syndrome 6 45
672 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 45
673 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 45
674 c BRD033 Bardet-Biedl Syndrome 13 44
675 c MCL016 Mucolipidosis Iii Gamma 44
676 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
677 c HRM009 Hermansky-Pudlak Syndrome 6 43
678 c ZLL011 Zellweger Spectrum Disorder 43
679 HYP550 Hypomagnesemia 1, Intestinal 43
680 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 43
681 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 43
682 c BRD011 Bardet-Biedl Syndrome 10 43
683 P HYP210 Hypomagnesemia 2, Renal 43
684 c FML036 Familial Periodic Paralysis 42
685 c BRD017 Bardet-Biedl Syndrome 5 42
686 HSD004 Hsd10 Mitochondrial Disease 42
687 AMN002 Amino Acid Metabolic Disorder 42
688 GLY015 Glycine N-Methyltransferase Deficiency 41
689 TRN021 Transaldolase Deficiency 41
690 c HYP290 Hypobetalipoproteinemia, Familial, 2 41
691 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 41
692 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
693 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
694 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 41
695 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
696 c TYR011 Tyrosinemia, Type Iii 41
697 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
698 P RRH023 Rare Hereditary Hemochromatosis 41
699 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
700 c CNG002 Congenital Bile Acid Synthesis Defect 40
701 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 40
702 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 40
703 PHS001 Phosphorus Metabolism Disease 40
704 FML091 Familial Tumoral Calcinosis 40
705 MCP033 Mucopolysaccharidoses 39
706 P XNT004 Xanthinuria 39
707 MRS001 Marasmus 39
708 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
709 SNG007 Sengers Syndrome 39
710 P HYP111 Hyperprolinemia 39
711 MNR003 Mineral Metabolism Disease 39
712 ATX010 Ataxia Neuropathy Spectrum 39
713 c MCP045 Mucopolysaccharidosis, Type Iiic 39
714 c HYP555 Hypertriglyceridemia, Transient Infantile 38
715 c MCP051 Mucopolysaccharidosis, Type Ix 38
716 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
717 c KLF004 Kleefstra Syndrome 1 38
718 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
719 c HYP603 Hyperoxaluria, Primary, Type Iii 38
720 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 38
721 c HRM007 Hermansky-Pudlak Syndrome 4 38
722 ACY011 Acyl-Coa Dehydrogenase Deficiency 38
723 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 38
724 c BRD047 Bardet-Biedl Syndrome 16 37
725 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 37
726 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 37
727 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
728 SRC015 Sarcosinemia 37
729 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
730 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
731 c MCP048 Mucopolysaccharidosis, Type Ivb 37
732 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 37
733 HMM002 Haim-Munk Syndrome 36
734 c XNT011 Xanthinuria, Type Ii 36
735 WRN004 Wrinkly Skin Syndrome 36
736 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
737 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 36
738 CTN011 Cutaneous Porphyria 36
739 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 36
740 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 35
741 PLY010 Polyclonal Hypergammaglobulinemia 35
742 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
743 PHS023 Phosphoserine Aminotransferase Deficiency 34
744 c HMC034 Hemochromatosis, Type 5 34
745 HMC038 Hemochromatosis, Neonatal 34
746 RBS005 Ribose 5-Phosphate Isomerase Deficiency 34
747 c MCP046 Mucopolysaccharidosis, Type Iiid 34
748 c 3MT007 3-Methylglutaconic Aciduria 33
749 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
750 PCD001 Pica Disease 33
751 PLY158 Polyglucosan Body Neuropathy, Adult Form 33
752 P ACQ009 Acquired Metabolic Disease 33
753 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 33
754 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
755 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33
756 c HRD142 Hereditary Xanthinuria 33
757 GLY099 Glycogen Storage Disease Ixa1 32
758 PYR009 Pyridoxine Deficiency Anemia 32
759 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 32
760 LCT013 Lactase Deficiency, Congenital 32
761 c JVN024 Juvenile Hereditary Hemochromatosis 32
762 INC022 Inclusion-Cell Disease 32
763 c RRD013 Rare Diabetes Mellitus Type 2 32
764 c HYP248 Hyperprolinemia, Type I 31
765 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 31
766 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 31
767 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 31
768 P FRS004 Free Sialic Acid Storage Disorders 31
769 c HYP597 Hyperprolinemia, Type Ii 31
770 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
771 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 31
772 CYS045 Cystinosis, Adult Nonnephropathic 31
773 c SPN284 Spinocerebellar Ataxia 38 31
774 c GLY057 Glycogen Storage Disease X 31
775 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 30
776 DSR074 Disorder of Purine Metabolism 30
777 CRB137 Cerebral Creatine Deficiency Syndrome 30
778 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
779 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 30
780 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
781 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
782 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 30
783 5XP001 5-Oxoprolinase Deficiency 30
784 c NLX003 Neu-Laxova Syndrome 2 30
785 MTC037 Mitochondrial Phosphate Carrier Deficiency 29
786 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 29
787 STR018 Steroid Inherited Metabolic Disorder 29
788 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 29
789 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 28
790 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
791 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
792 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 28
793 P ACT241 Acute Bilirubin Encephalopathy 28
794 LYS029 Lysosomal Disease 28
795 c HYP839 Hyperlipidemia, Familial Combined, 1 28
796 CMB044 Combined Oxidative Phosphorylation Deficiency 14 28
797 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 28
798 CMB015 Combined Oxidative Phosphorylation Deficiency 4 27
799 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
800 DMT001 Dimethylglycine Dehydrogenase Deficiency 27
801 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 27
802 c TYP028 Type 1 Diabetes Mellitus 2 27
803 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
804 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 27
805 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 27
806 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 27
807 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 27
808 c BRD050 Bardet-Biedl Syndrome 21 27
809 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
810 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 26
811 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 26
812 c BRT024 Bartter Syndrome Type 4 26
813 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 26
814 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
815 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 26
816 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 26
817 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 26
818 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
819 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
820 CMB019 Combined Oxidative Phosphorylation Deficiency 8 25
821 CRN042 Carnosinemia 25
822 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 25
823 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 25
824 c GLY059 Glycogen Storage Disease Xiii 25
825 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 25
826 CMB041 Combined Oxidative Phosphorylation Deficiency 13 25
827 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 25
828 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
829 3HY001 3-Hydroxyisobutyric Aciduria 25
830 CRT065 Cortisone Reductase Deficiency 1 25
831 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
832 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
833 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 25
834 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25
835 CMB045 Combined Oxidative Phosphorylation Deficiency 19 25
836 SCC002 Saccharopinuria 24
837 CRT066 Cortisone Reductase Deficiency 2 24
838 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
839 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 24
840 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 24
841 c HMC019 Hemochromatosis, Type 2b 24
842 CMB071 Combined Oxidative Phosphorylation Deficiency 27 24
843 SDH011 Sedoheptulokinase Deficiency 24
844 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 24
845 CMB043 Combined Oxidative Phosphorylation Deficiency 9 24
846 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
847 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 24
848 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 24
849 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 24
850 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
851 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
852 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 24
853 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
854 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 24
855 c HRM020 Hermansky-Pudlak Syndrome 10 23
856 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 23
857 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
858 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 23
859 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
860 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 23
861 SRN001 Serine Deficiency 23
862 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
863 HST007 Histidine Metabolism Disease 23
864 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 23
865 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
866 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
867 CMB082 Combined Oxidative Phosphorylation Deficiency 33 23
868 c HYP163 Hyperlipidemia Type 3 23
869 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 23
870 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
871 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
872 PRX034 Peroxisome Disorders 23
873 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
874 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
875 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
876 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
877 LPY002 Lipoyltransferase 1 Deficiency 22
878 CMB042 Combined Oxidative Phosphorylation Deficiency 16 22
879 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 22
880 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 22
881 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 22
882 HYP690 Hyper-Beta-Alaninemia 22
883 ISL116 Isolated Complex Iii Deficiency 22
884 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 22
885 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
886 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 22
887 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
888 GLY094 Glycine Encephalopathy with Normal Serum Glycine 22
889 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 22
890 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
891 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
892 MTC115 Mitochondrial Myopathy, Lethal, Infantile 21
893 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
894 CMB013 Combined Oxidative Phosphorylation Deficiency 2 21
895 CMB072 Combined Oxidative Phosphorylation Deficiency 28 21
896 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 21
897 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 21
898 c KLF005 Kleefstra Syndrome 2 21
899 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 21
900 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 21
901 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 21
902 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 21
903 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 21
904 CNG512 Congenital Disorder of Glycosylation, Type Iaa 21
905 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
906 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
907 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 21
908 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 21
909 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 20
910 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 20
911 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 20
912 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 20
913 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 20
914 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 20
915 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 20
916 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 20
917 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
918 BTM003 Beta-Aminoisobutyric Aciduria 20
919 CMB077 Combined Oxidative Phosphorylation Deficiency 30 19
920 c INF047 Infantile Free Sialic Acid Storage Disease 19
921 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 19
922 HMC036 Homocystinuria Without Methylmalonic Aciduria 19
923 P DSR081 Disorder of Bile Acid Synthesis 19
924 ISL082 Isolated Atp Synthase Deficiency 19
925 HYD031 Hydroxyprolinemia 19
926 TRN067 Transcobalamin I Deficiency 19
927 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 18
928 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 18
929 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 18
930 BRK013 Birk-Landau-Perez Syndrome 18
931 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
932 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 17
933 c TYS005 Tay-Sachs Disease, B1 Variant 16
934 CRD193 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 16
935 NRM021 Neurometabolic Disorder Due to Serine Deficiency 16
936 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
937 DBS003 Dibasic Amino Aciduria I 15
938 c SPN122 Spondylocostal Dysostosis 2 15
939 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 15
940 c HYP842 Hyperlipidemia, Familial Combined, 2 15
941 PRM138 Pure Mitochondrial Myopathy 14
942 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 13
943 GNR029 Generalized Galactose Epimerase Deficiency 13
944 c KLF002 Kleefstra Syndrome Due to a Point Mutation 12
945 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
946 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 12
947 c SPN123 Spondylocostal Dysostosis 3 12
948 c PSD023 Pseudo-Gaucher Disease 12
949 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 11
950 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 10
951 c SPN121 Spondylocostal Dysostosis 1 10
952 c LTN017 Late-Infantile/juvenile Krabbe Disease 10
953 c RRD012 Rare Diabetes Mellitus Type 1 9
954 c SPN124 Spondylocostal Dysostosis 4 9
955 MTC191 Mitochondrial Dna-Related Mitochondrial Myopathy 9
956 c ACT189 Acute Neonatal Citrullinemia Type I 8
957 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 8
958 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 8
959 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 8
960 CRB213 Cerebral Organic Aciduria 8
961 TRN049 Transient Tyrosinemia of the Newborn 7
962 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
963 GLB028 Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome 7
964 c RRD067 Rare Diabetes Mellitus 7
965 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
966 c ALP055 Alpha-Mannosidosis, Infantile Form 7
967 P ALP056 Alpha-Mannosidosis, Adult Form 7
968 P RRH006 Rare Hyperlipidemia 7
969 DSR032 Disorder of Manganese Transport 7
970 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 6
971 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 6
972 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 6
973 DSR077 Disorder of the Gamma-Glutamyl Cycle 6
974 MTC180 Mitochondrial Dna-Related Dystonia 5
975 INF171 Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
976 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
977 DFC009 Defect in V-Atpase 5
978 c DSR045 Disorder of Protein N-Glycosylation 4
979 GLY110 Glycogen Storage Disease Due to Glycogen Synthase Deficiency 4
980 c MTC189 Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna 4
981 c MTC190 Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies 4
982 c MTB012 Metabolic Disease Due to Other Fatty Acid Oxidation Disorder 4
983 EXR009 Exercise Intolerance with Lactic Acidosis 4
984 DSR038 Disorder of Catecholamine Synthesis 4
985 DSR040 Disorder of Glycosphingolipid and Glycosylphosphatidylinositol Anchor Glycosylation 4
986 DSR053 Disorder of Fatty Acid Oxidation and Ketogenesis 4
987 c DSR009 Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation 3
988 DSR016 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement 3
989 DSR070 Disorder of Fatty Acid Oxidation and Ketone Body Metabolism 3
990 DSR083 Disorder of Amino Acid Absorption and Transport 3
991 ISL137 Isolated Oxidative Phosphorylation Complex Disorder 3
992 DSR028 Disorder of Magnesium Transport 3
993 DSR043 Disorder of O-Xylosylglycan Synthesis 3
994 DSR046 Disorder of O-Mannosylglycan Synthesis 3
995 DSR048 Disorder of O-N-Acetylgalactosaminylglycan Synthesis 3
996 DSR049 Disorder of O-Xylosyl/n-Acetylgalactosaminylglycan Synthesis 3
997 AMN004 Aminoacylase Deficiency 3
998 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 3
999 DSR059 Disorder of Carnitine Cycle and Carnitine Transport 3
1000 DSR065 Disorder of Lysosomal Amino Acid Transport 3
1001 GLC109 Glucose Transport Disorder 3
1002 DSR017 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement 3
1003 UNS003 Unspecified Mitochondrial Disorder 2
1004 MTC188 Mitochondrial Membrane Transport Disorder 2
1005 DSR051 Disorder of Carbohydrate Absorption and Transport 2
1006 DSR063 Disorder of Plasmalogens Biosynthesis 2
1007 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1008 MHM001 Mehmo Syndrome 37
1009 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38
1010 BRJ001 Borjeson-Forssman-Lehmann Syndrome 53
1011 STR067 Stroke, Ischemic 82
1012 NTR002 Nutritional Optic Neuropathy 16
1013 CNN003 Conn's Syndrome 78
1014 DRR016 Diarrhea 2, with Microvillus Atrophy 54
1015 c BRD015 Bardet-Biedl Syndrome 3 45
1016 P MNT319 Mental Retardation, Autosomal Dominant 20 42
1017 c MNT143 Mental Retardation, Autosomal Dominant 13 38
1018 c MNT185 Mental Retardation, Autosomal Dominant 7 34
1019 c MNT212 Mental Retardation, Autosomal Dominant 26 30
1020 c MNT226 Mental Retardation, Autosomal Dominant 31 30
1021 c MNT157 Mental Retardation, Autosomal Dominant 18 27
1022 c MNT158 Mental Retardation, Autosomal Dominant 22 27
1023 c MNT241 Mental Retardation, Autosomal Dominant 32 27
1024 c MNT239 Mental Retardation, Autosomal Dominant 35 26
1025 c MNT210 Mental Retardation, Autosomal Recessive 42 26
1026 c MNT270 Mental Retardation, Autosomal Recessive 53 26
1027 c MNT328 Mental Retardation, Autosomal Dominant 52 26
1028 c MNT273 Mental Retardation, Autosomal Dominant 44 25
1029 c MNT262 Mental Retardation, Autosomal Dominant 42 25
1030 c MNT214 Mental Retardation, Autosomal Dominant 24 25
1031 c MNT145 Mental Retardation, Autosomal Recessive 5 25
1032 c MNT211 Mental Retardation, Autosomal Dominant 23 25
1033 c MNT246 Mental Retardation, Autosomal Dominant 38 25
1034 c MNT213 Mental Retardation, Autosomal Recessive 40 25
1035 c MNT272 Mental Retardation, Autosomal Dominant 41 25
1036 c MNT216 Mental Retardation, Autosomal Recessive 41 25
1037 c MNT166 Mental Retardation, Autosomal Recessive 39 24
1038 c MNT183 Mental Retardation, Autosomal Recessive 36 24
1039 c MNT150 Mental Retardation, Autosomal Recessive 15 24
1040 c MNT179 Mental Retardation, Autosomal Dominant 21 24
1041 c MNT280 Mental Retardation, Autosomal Dominant 43 24
1042 c MNT287 Mental Retardation, Autosomal Recessive 57 24
1043 c MNT222 Mental Retardation, Autosomal Dominant 29 24
1044 c MNT236 Mental Retardation, Autosomal Dominant 39 23
1045 c MNT334 Mental Retardation, Autosomal Dominant 57 23
1046 c MNT155 Mental Retardation, Autosomal Recessive 2 23
1047 c MNT184 Mental Retardation, Autosomal Dominant 11 23
1048 c MNT332 Mental Retardation, Autosomal Dominant 56 23
1049 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1050 c MNT329 Mental Retardation, Autosomal Dominant 53 23
1051 c MNT324 Mental Retardation, Autosomal Dominant 49 23
1052 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1053 c MNT321 Mental Retardation, Autosomal Recessive 37 23
1054 c MNT282 Mental Retardation, Autosomal Recessive 55 23
1055 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1056 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1057 c MNT245 Mental Retardation, Autosomal Dominant 36 22
1058 c MNT323 Mental Retardation, Autosomal Dominant 48 22
1059 c MNT238 Mental Retardation, Autosomal Dominant 34 22
1060 c MNT330 Mental Retardation, Autosomal Dominant 54 22
1061 c MNT219 Mental Retardation, Autosomal Dominant 30 22
1062 c MNT244 Mental Retardation, Autosomal Recessive 49 22
1063 c MNT325 Mental Retardation, Autosomal Recessive 61 22
1064 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1065 c MNT338 Mental Retardation, Autosomal Recessive 65 21
1066 c MNT337 Mental Retardation, Autosomal Dominant 58 21
1067 c MNT286 Mental Retardation, Autosomal Dominant 45 21
1068 c MNT327 Mental Retardation, Autosomal Dominant 51 21
1069 c MNT177 Mental Retardation, Autosomal Recessive 27 21
1070 c MNT186 Mental Retardation, Autosomal Dominant 10 21
1071 CLR029 Clark-Baraitser Syndrome 21
1072 c MNT221 Mental Retardation, Autosomal Recessive 44 20
1073 c MNT339 Mental Retardation, Autosomal Recessive 66 20
1074 c MNT278 Mental Retardation, Autosomal Dominant 46 20
1075 c MNT285 Mental Retardation, Autosomal Recessive 58 20
1076 c MNT151 Mental Retardation, Autosomal Recessive 18 20
1077 c MNT234 Mental Retardation, Autosomal Recessive 48 20
1078 c MNT240 Mental Retardation, Autosomal Dominant 33 19
1079 c MNT154 Mental Retardation, Autosomal Recessive 14 19
1080 c MNT336 Mental Retardation, Autosomal Recessive 64 19
1081 c MNT275 Mental Retardation, Autosomal Recessive 60 19
1082 c MNT225 Mental Retardation, Autosomal Recessive 47 18
1083 c MNT220 Mental Retardation, Autosomal Recessive 45 18
1084 c MNT263 Mental Retardation, Autosomal Recessive 51 18
1085 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1086 c MNT181 Mental Retardation, Autosomal Recessive 35 17
1087 c MNT215 Mental Retardation, Autosomal Recessive 43 17
1088 c MNT277 Mental Retardation, Autosomal Recessive 54 17
1089 c MNT335 Mental Retardation, Autosomal Recessive 63 17
1090 c MNT264 Mental Retardation, Autosomal Recessive 52 16
1091 c MNT281 Mental Retardation, Autosomal Recessive 59 16
1092 c MNT172 Mental Retardation, Autosomal Recessive 25 16
1093 c MNT284 Mental Retardation, Autosomal Recessive 56 16
1094 c MNT161 Mental Retardation, Autosomal Recessive 29 15
1095 c MNT180 Mental Retardation, Autosomal Recessive 33 15
1096 c MNT163 Mental Retardation, Autosomal Recessive 30 15
1097 c MNT162 Mental Retardation, Autosomal Recessive 24 15
1098 c MNT182 Mental Retardation, Autosomal Recessive 19 14
1099 c MNT165 Mental Retardation, Autosomal Recessive 28 14
1100 c MNT170 Mental Retardation, Autosomal Recessive 23 14
1101 c MNT167 Mental Retardation, Autosomal Recessive 16 14
1102 c MNT160 Mental Retardation, Autosomal Recessive 31 13
1103 CMR005 Camera-Marugo-Cohen Syndrome 12
1104 c ATS394 Autosomal Dominant Mental Retardation 55 5
1105 P BDY004 Body Mass Index Quantitative Trait Locus 11 78
1106 P AMY004 Amyloidosis 71
1107 RCK004 Rickets 70
1108 c HRD010 Hereditary Spastic Paraplegia 67
1109 P DBT009 Diabetes Mellitus 66
1110 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 62
1111 ISC004 Ischemia 62
1112 DBT083 Diabetes Mellitus, Permanent Neonatal 61
1113 CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 61
1114 c NMN016 Niemann-Pick Disease, Type B 61
1115 GLY010 Glycine Encephalopathy 61
1116 P CTS001 Cutis Laxa 60
1117 P MLG056 Malignant Hyperthermia 60
1118 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59
1119 IRN001 Iron Deficiency Anemia 59
1120 STS003 Sitosterolemia 58
1121 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 58
1122 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58
1123 P OCL002 Oculocutaneous Albinism 58
1124 GST033 Gestational Diabetes 58
1125 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
1126 IRN002 Iron Metabolism Disease 58
1127 P MTC069 Mitochondrial Disorders 57
1128 CPR004 Coproporphyria, Hereditary 57
1129 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 57
1130 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
1131 APP015 Apparent Mineralocorticoid Excess 56
1132 LNN001 Lennox-Gastaut Syndrome 56
1133 CNV004 Canavan Disease 56
1134 P HYP818 Hypobetalipoproteinemia, Familial, 1 56
1135 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 55
1136 HMC014 Homocysteinemia 54
1137 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54
1138 KFR001 Kufor-Rakeb Syndrome 54
1139 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 53
1140 CYS036 Cystinosis, Nephropathic 53
1141 NNL006 Non-Alcoholic Steatohepatitis 53
1142 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53
1143 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 52
1144 ADN024 Adenine Phosphoribosyltransferase Deficiency 52
1145 HYP088 Hyper-Igd Syndrome 51
1146 c INH020 Inherited Metabolic Disorder 51
1147 P LCT002 Lactose Intolerance 51
1148 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
1149 HYP081 Hypolipoproteinemia 51
1150 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 51
1151 URC002 Urea Cycle Disorder 51
1152 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 51
1153 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
1154 c ALM001 Al Amyloidosis 50
1155 SGW002 Segawa Syndrome, Autosomal Recessive 50
1156 P SHR001 Short Bowel Syndrome 50
1157 c AMY009 Amyloidosis Aa 50
1158 MTC005 Mitochondrial Metabolism Disease 50
1159 c HYP739 Hyperlipoproteinemia, Type Iv 50
1160 c HYP768 Hyperlipoproteinemia, Type I 50
1161 P HYP121 Hypoalphalipoproteinemia 49
1162 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 49
1163 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
1164 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 48
1165 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 48
1166 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 48
1167 MHR001 Mohr-Tranebjaerg Syndrome 48
1168 WRN002 Wernicke-Korsakoff Syndrome 48
1169 P KRN004 Kernicterus 47
1170 P PLL002 Pellagra 47
1171 c MTC061 Mitochondrial Dna Depletion Syndrome 1 47
1172 P SLL003 Salla Disease 47
1173 TTR005 Tetrahydrobiopterin Deficiency 47
1174 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
1175 P MCL001 Mucolipidosis 46
1176 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1177 FRC001 Fructose-1,6-Bisphosphatase Deficiency 46
1178 c HRD039 Hereditary Amyloidosis 46
1179 WRN003 Wernicke Encephalopathy 46
1180 c CHR095 Chronic Progressive External Ophthalmoplegia 46
1181 KWS001 Kwashiorkor 46
1182 RBF001 Riboflavin Deficiency 46
1183 NNK001 Nonaka Myopathy 45
1184 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 45
1185 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 45
1186 CRB025 Carbohydrate Metabolic Disorder 45
1187 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 45
1188 DWR001 Dwarfism 45
1189 IMN001 Iminoglycinuria 45
1190 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 45
1191 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 45
1192 c BRD020 Bardet-Biedl Syndrome 8 45
1193 c CTS045 Cutis Laxa, Autosomal Dominant 1 44
1194 PRL019 Prolidase Deficiency 44
1195 P PRM001 Primary Cutaneous Amyloidosis 44
1196 TRS021 Triosephosphate Isomerase Deficiency 44
1197 c BDY007 Body Mass Index Quantitative Trait Locus 1 43
1198 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 43
1199 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
1200 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 43
1201 c BRD012 Bardet-Biedl Syndrome 11 43
1202 c MLG147 Malignant Hyperthermia 1 43
1203 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 43
1204 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 43
1205 HRL004 Hurler-Scheie Syndrome 43
1206 DCR008 Dicarboxylic Aminoaciduria 43
1207 ORG002 Organic Acidemia 43
1208 P MYG005 Myoglobinuria 43
1209 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
1210 MLY001 Molybdenum Cofactor Deficiency 42
1211 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
1212 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
1213 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
1214 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42
1215 c BRD032 Bardet-Biedl Syndrome 14 42
1216 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 42
1217 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 42
1218 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
1219 c CNG413 Congenital Short Bowel Syndrome 41
1220 NTR007 Neutral Lipid Storage Disease with Myopathy 41
1221 FMR004 Fumarase Deficiency 41
1222 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
1223 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 41
1224 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 41
1225 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1226 SCR037 Sucrase-Isomaltase Deficiency, Congenital 41
1227 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
1228 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 41
1229 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 40
1230 CRD170 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 40
1231 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
1232 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 40
1233 DSM002 Desmosterolosis 40
1234 c TRN032 Transient Neonatal Diabetes Mellitus 40
1235 c LPD040 Lipodystrophy, Familial Partial, Type 1 40
1236 c HYP602 Hyperoxaluria, Primary, Type Ii 39
1237 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
1238 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
1239 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 39
1240 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 39
1241 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 39
1242 CRT055 Creatine Deficiency Syndromes 39
1243 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 38
1244 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 38
1245 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 38
1246 GRC001 Gracile Syndrome 38
1247 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 38
1248 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 38
1249 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
1250 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 38
1251 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
1252 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 37
1253 CMB012 Combined Oxidative Phosphorylation Deficiency 1 37
1254 CMB020 Combined Saposin Deficiency 37
1255 c MYG007 Myoglobinuria, Recurrent 37
1256 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 37
1257 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 37
1258 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1259 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 37
1260 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 37
1261 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
1262 KSH001 Keshan Disease 37
1263 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
1264 P SCH017 Schindler Disease 36
1265 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
1266 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 36
1267 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 36
1268 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
1269 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 36
1270 KNZ001 Kanzaki Disease 36
1271 GLY032 Glycosylphosphatidylinositol Deficiency 36
1272 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
1273 c SCH069 Schindler Disease, Type I 36
1274 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 36
1275 BJR001 Bjornstad Syndrome 35
1276 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1277 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
1278 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 35
1279 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
1280 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
1281 P BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 35
1282 c SPS021 Spastic Paraplegia 10 35
1283 CMB008 Combined Oxidative Phosphorylation Deficiency 34
1284 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 34
1285 c BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 34
1286 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 34
1287 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
1288 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 34
1289 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
1290 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
1291 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 34
1292 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 34
1293 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
1294 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 34
1295 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1296 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 33
1297 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 33
1298 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
1299 SCH030 Schneckenbecken Dysplasia 33
1300 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 33
1301 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 33
1302 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 32
1303 CMB011 Combined Malonic and Methylmalonic Aciduria 32
1304 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32
1305 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 32
1306 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 32
1307 24D001 2,4-Dienoyl-Coa Reductase Deficiency 32
1308 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 32
1309 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 32
1310 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
1311 GLY061 Glycogen Storage Disease 0, Muscle 32
1312 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 32
1313 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
1314 P BRW001 Brown-Vialetto-Van Laere Syndrome 31
1315 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
1316 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 31
1317 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 31
1318 c SPS025 Spastic Paraplegia 15 31
1319 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 31
1320 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 31
1321 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
1322 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
1323 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 31
1324 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 31
1325 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 31
1326 c SPS036 Spastic Paraplegia 3 31
1327 PHS014 Phosphoglycerate Kinase 1 Deficiency 31
1328 GLT011 Glutamine Deficiency, Congenital 31
1329 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 31
1330 c GLY043 Glycogen Storage Disease Xii 30
1331 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30
1332 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 30
1333 c SPS013 Spastic Paraplegia 8 30
1334 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1335 MTL002 Metal Metabolism Disorder 30
1336 c CNG188 Congenital Disorder of Glycosylation, Type if 30
1337 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 30
1338 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 30
1339 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 30
1340 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
1341 LGH012 Leigh Syndrome with Leukodystrophy 29
1342 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
1343 c SPS091 Spastic Paraplegia 4 29
1344 MLD010 Mild Phenylketonuria 29
1345 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 29
1346 c HYP843 Hypoalphalipoproteinemia, Primary, 2 29
1347 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1348 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 29
1349 DSR031 Disorder of Copper Metabolism 29
1350 c MLG151 Malignant Hyperthermia 5 28
1351 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 28
1352 VRR003 Verruciform Xanthoma of Skin 28
1353 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 28
1354 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 28
1355 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 28
1356 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
1357 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 28
1358 CMB064 Combined Oxidative Phosphorylation Deficiency 24 28
1359 GRW003 Growth Hormone Insensitivity with Immunodeficiency 28
1360 c SPS039 Spastic Paraplegia 5a 28
1361 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 28
1362 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1363 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27
1364 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
1365 MLD011 Mild Hyperphenylalaninemia 27
1366 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
1367 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 27
1368 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 27
1369 CMB046 Combined Oxidative Phosphorylation Deficiency 11 27
1370 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 27
1371 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 27
1372 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
1373 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
1374 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
1375 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 26
1376 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
1377 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 26
1378 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 26
1379 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
1380 HYD030 Hydroxykynureninuria 26
1381 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
1382 P SPS012 Spastic Paraplegia 3a 26
1383 CMB025 Combined Oxidative Phosphorylation Deficiency 10 26
1384 c SPS041 Spastic Paraplegia 6 26
1385 HYP187 Hypertryptophanemia 26
1386 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 26
1387 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 26
1388 c LCT011 Lactose Intolerance, Adult Type 26
1389 c SPS092 Spastic Paraplegia 11 26
1390 c ACQ027 Acquired Cutis Laxa 26
1391 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
1392 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 26
1393 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 25
1394 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 25
1395 CMB049 Combined Oxidative Phosphorylation Deficiency 17 25
1396 c SPS136 Spastic Ataxia 3, Autosomal Recessive 25
1397 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 25
1398 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
1399 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 25
1400 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 25
1401 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 25
1402 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
1403 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
1404 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 24
1405 c MLG148 Malignant Hyperthermia 2 24
1406 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 24
1407 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
1408 PYR035 Pyrimidine Metabolic Disorder 24
1409 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
1410 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 24
1411 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1412 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
1413 c SPS027 Spastic Paraplegia 17 24
1414 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
1415 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
1416 PRN024 Purine-Pyrimidine Metabolic Disorder 23
1417 c INT262 Intermediate Maple Syrup Urine Disease 23
1418 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 23
1419 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 23
1420 PLS010 Plasma Protein Metabolism Disease 23
1421 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
1422 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 23
1423 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 23
1424 CMB052 Combined Oxidative Phosphorylation Deficiency 20 23
1425 P CMP101 Complex Hereditary Spastic Paraplegia 23
1426 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 23
1427 c SPS020 Spastic Paraplegia 1 22
1428 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 22
1429 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 22
1430 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
1431 c SPS042 Spastic Paraplegia 9 22
1432 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
1433 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1434 CRD192 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 21
1435 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 21
1436 c MLG149 Malignant Hyperthermia 3 21
1437 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 21
1438 P VTM003 Vitamin Metabolic Disorder 21
1439 CRD158 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 21
1440 c MLG150 Malignant Hyperthermia 4 21
1441 c SPS023 Spastic Paraplegia 13 21
1442 TRH001 Trehalase Deficiency 21
1443 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
1444 c HRD186 Hereditary Spastic Paraplegia 51 20
1445 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 20
1446 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 20
1447 c HYP302 Hypomagnesemia 4, Renal 20
1448 LGH017 Leigh Syndrome with Nephrotic Syndrome 20
1449 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 20
1450 c SPS037 Spastic Paraplegia 31 20
1451 c MLG152 Malignant Hyperthermia 6 19
1452 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1453 CMB079 Combined Oxidative Phosphorylation Deficiency 29 19
1454 c PRM150 Primary Localized Amyloidosis 19
1455 c SPS038 Spastic Paraplegia 39 19
1456 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 19
1457 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 19
1458 c HRD188 Hereditary Spastic Paraplegia 72 19
1459 c SPS022 Spastic Paraplegia 12 19
1460 c SPS028 Spastic Paraplegia 18 18
1461 c AHM002 Ah Amyloidosis 18
1462 MTC033 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form 18
1463 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 18
1464 GBM001 Gaba Aminotransferase Deficiency 18
1465 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 18
1466 c SPS034 Spastic Paraplegia 26 18
1467 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 18
1468 CPP001 Copper Deficiency, Familial Benign 18
1469 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
1470 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1471 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17
1472 c PLL014 Pellagra-Like Syndrome 16
1473 OTH021 Other Metabolic Disease 16
1474 DSR078 Disorder of Branched-Chain Amino Acid Metabolism 16
1475 HYD055 Hydroxylysinuria 15
1476 DSR055 Disorder of Galactose Metabolism 15
1477 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 15
1478 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 15
1479 c MYG006 Myoglobinuria, Autosomal Dominant 15
1480 ATY025 Atypical Glycine Encephalopathy 15
1481 c SPS032 Spastic Paraplegia 24 15
1482 c HRD210 Hereditary Spastic Paraplegia 23 14
1483 DSR026 Disorder of Tyrosine Metabolism 14
1484 c SPS029 Spastic Paraplegia 19 14
1485 DSR072 Disorder of Energy Metabolism 13
1486 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 13
1487 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
1488 c SPS035 Spastic Paraplegia 29 13
1489 c INT094 Intermediate Severe Salla Disease 13
1490 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 13
1491 c SPS161 Spastic Paraplegia 32 13
1492 c SPS033 Spastic Paraplegia 25 13
1493 c SPS080 Spastic Paraplegia 51 12
1494 c SPS024 Spastic Paraplegia 14 12
1495 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
1496 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 12
1497 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 12
1498 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 12
1499 c SPS165 Spastic Paraplegia 47 12
1500 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
1501 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
1502 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
1503 c SPS230 Spastic Paraplegia Type 49 11
1504 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
1505 c ATS154 Autosomal Recessive Complex Spastic Paraplegia 11
1506 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 11
1507 c SPS026 Spastic Paraplegia 16 11
1508 c BDY016 Body Mass Index Quantitative Trait Locus 13 11
1509 c ADL071 Adult Krabbe Disease 11
1510 DSR056 Disorder of Fructose Metabolism 10
1511 c BDY008 Body Mass Index Quantitative Trait Locus 2 10
1512 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
1513 c SCN046 Secondary Short Bowel Syndrome 10
1514 DSR023 Disorder of Tryptophan Metabolism 9
1515 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 9
1516 c BDY013 Body Mass Index Quantitative Trait Locus 5 9
1517 c BDY018 Body Mass Index Quantitative Trait Locus 15 9
1518 c ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 9
1519 c ATS471 Autosomal Dominant Complex Spastic Paraplegia 9
1520 c BDY014 Body Mass Index Quantitative Trait Locus 6 9
1521 DSR020 Disorder of Ornithine Metabolism 9
1522 DSR025 Disorder of Phenylalanine Metabolism 9
1523 DSR052 Disorder of Glyoxylate Metabolism 8
1524 c KRN003 Kernicterus Due to Isoimmunization 8
1525 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
1526 P TTL001 Total Internal Ophthalmoplegia 8
1527 c SPS040 Spastic Paraplegia 5b 7
1528 DSR021 Disorder of Lysine and Hydroxylysine Metabolism 7
1529 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
1530 DSR058 Disorder of Sialic Acid Metabolism 6
1531 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 6
1532 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 6
1533 STR106 Sterol Metabolism Disorder 6
1534 DSR019 Disorder of Proline Metabolism 6
1535 PYR043 Pyruvate Metabolism Disorder 6
1536 c PRM318 Primary Short Bowel Syndrome 5
1537 FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
1538 c RRD027 Rare Disease with Malignant Hyperthermia 4
1539 DSR071 Disorder of Glycerol Metabolism 4
1540 DSR075 Disorder of Pyridoxine Metabolism 4
1541 DSR079 Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism 4
1542 DSR022 Disorder of Glutamine Metabolism 4
1543 DSR029 Disorder of Zinc Metabolism and Transport 4
1544 c DSR050 Disorder of Beta and Omega Amino Acid Metabolism 4
1545 FML356 Familial Primary Hypomagnesemia with Normocalcuria 4
1546 DSR030 Disorder of Iron Metabolism and Transport 3
1547 DSR060 Disorder of Thiamine Metabolism and Transport 3
1548 DSR069 Disorder of Pentose Phosphate Metabolism 3
1549 DSR084 Disorder of Urea Cycle Metabolism and Ammonia Detoxification 3
1550 NDH002 Nad Hx Dehydratase Deficiency 3
1551 DSR082 Disorder of Neurotransmitter Metabolism and Transport 3
1552 DSR014 Disorder of Melanin Metabolism 3
1553 DSR018 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement 3
1554 DSR024 Disorder of Folate Metabolism and Transport 3
1555 DSR033 Disorder of Metabolite Absorption and Transport 3
1556 DSR035 Disorder of Bilirubin Metabolism and Excretion 3
1557 DSR037 Disorder of Other Vitamins and Cofactors Metabolism and Transport 3
1558 DSR062 Disorders of Pentose/polyol Metabolism 3
1559 DSR064 Disorder of Biogenic Amine Metabolism and Transport 3
1560 DSR067 Disorder of Ornithine or Proline Metabolism 3
1561 DSR068 Disorder of Peptide Metabolism 3
1562 DSR073 Disorder of Phenylalanin or Tyrosine Metabolism 3
1563 DSR076 Disorder of Serine or Glycine Metabolism 3
1564 DSR080 Disorder of Cobalamin Metabolism and Transport 3
1565 DSR085 Disorder of Amino Acid and Other Organic Acid Metabolism 3
1566 NNT055 Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency 3
1567 SPS235 Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency 3
1568 P INT070 Intestinal Obstruction 60
1569 c INT072 Intestinal Pseudo-Obstruction 55
1570 P PRK057 Parkinson Disease, Late-Onset 77
1571 c HYP836 Hypercholesterolemia, Familial, 1 74
1572 LPT014 Leptin Deficiency or Dysfunction 72
1573 P LVR013 Liver Disease 71
1574 P MTC003 Metachromatic Leukodystrophy 69
1575 P DBT085 Diabetes Mellitus, Insulin-Dependent 68
1576 SMT004 Smith-Lemli-Opitz Syndrome 67
1577 c FML021 Familial Hypercholesterolemia 67
1578 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 65
1579 SND001 Sandhoff Disease 65
1580 TNG002 Tangier Disease 64
1581 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64
1582 ART002 Arts Syndrome 63
1583 P NRN021 Neuronal Ceroid Lipofuscinosis 63
1584 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 63
1585 c GLY060 Glycogen Storage Disease Ia 63
1586 FTT001 Fatty Liver Disease 63
1587 HYP020 Hyperprolactinemia 62
1588 c GLY003 Glycogen Storage Disease Iii 62
1589 P CTR002 Cataract 62
1590 P HYP097 Hyperekplexia 61
1591 DBT084 Diabetes Mellitus, Ketosis-Prone 60
1592 c GLY004 Glycogen Storage Disease V 60
1593 c MCL013 Mucolipidosis Iv 60
1594 c DWL002 Dowling-Degos Disease 1 59
1595 P GLY013 Glycogen Storage Disease 59
1596 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 59
1597 P FCS002 Fucosidosis 58
1598 GLC004 Galactokinase Deficiency 57
1599 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 57
1600 c ANM036 Anemia, Sideroblastic, 1 56
1601 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 56
1602 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 56
1603 ASP002 Aspartylglucosaminuria 55
1604 CRN295 Carnitine Palmitoyltransferase I Deficiency 55
1605 AMY082 Amyloidosis, Familial Visceral 55
1606 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
1607 ARG007 Argininemia 55
1608 c GLY011 Glycogen Storage Disease Vii 55
1609 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 55
1610 P LMB006 Limb-Girdle Muscular Dystrophy 55
1611 c GLY007 Glycogen Storage Disease Iv 54
1612 DBF001 D-Bifunctional Protein Deficiency 54
1613 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1614 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54
1615 c NMN014 Niemann-Pick Disease, Type C2 53
1616 c CNG012 Congenital Generalized Lipodystrophy 53
1617 MTC020 Mitochondrial Complex Ii Deficiency 53
1618 c ACT134 Acute Liver Failure 53
1619 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1620 c GLY005 Glycogen Storage Disease Vi 52
1621 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 52
1622 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 52
1623 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 51
1624 OCC006 Occipital Horn Syndrome 51
1625 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 51
1626 ALP077 Alpha-Methylacetoacetic Aciduria 51
1627 P FML068 Familial Hypocalciuric Hypercalcemia 50
1628 P NNT009 Neonatal Diabetes Mellitus 50
1629 HLC001 Holocarboxylase Synthetase Deficiency 50
1630 TRN022 Transcobalamin Ii Deficiency 50
1631 P MTH008 Methylmalonic Acidemia 50
1632 c INF145 Infantile Liver Failure Syndrome 1 50
1633 CLC001 Calciphylaxis 49
1634 LPD009 Lipid Storage Disease 49
1635 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
1636 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 48
1637 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 48
1638 HMZ003 Homozygous Familial Hypercholesterolemia 48
1639 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
1640 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
1641 c HYP837 Hypercholesterolemia, Familial, 2 48
1642 c ALB019 Albinism, Oculocutaneous, Type Iv 47
1643 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1644 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
1645 P GLT035 Glutaric Acidemia I 47
1646 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 47
1647 CNG436 Congenital Disorder of Deglycosylation 47
1648 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
1649 P MTC010 Mitochondrial Dna Depletion Syndrome 47
1650 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 47
1651 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 47
1652 P SDR003 Sideroblastic Anemia 47
1653 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 46
1654 c HYP840 Hypercholesterolemia, Familial, 4 46
1655 P ACQ022 Acquired Generalized Lipodystrophy 46
1656 HYP236 Hyperbilirubinemia, Rotor Type 46
1657 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 45
1658 c TYR013 Tyrosinemia, Type Ii 45
1659 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 45
1660 c CTR098 Cataract 1, Multiple Types 45
1661 FSH001 Fish-Eye Disease 45
1662 c HYP272 Hypercholesterolemia, Familial, 3 44
1663 c MTC054 Mitochondrial Dna Depletion Syndrome 7 44
1664 PYR037 Pyruvate Carboxylase Deficiency 44
1665 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 44
1666 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 43
1667 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 43
1668 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 43
1669 P PLM085 Pulmonary Hemosiderosis 43
1670 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
1671 P DWL001 Dowling-Degos Disease 42
1672 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 42
1673 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
1674 HYP003 Hypermethioninemia 42
1675 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
1676 GLT018 Glut1 Deficiency Syndrome 1 42
1677 MND023 Mend Syndrome 42
1678 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 41
1679 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
1680 c HRD173 Hereditary Late-Onset Parkinson Disease 41
1681 c ALB016 Albinism, Oculocutaneous, Type Vii 41
1682 MLT018 Multiple Carboxylase Deficiency 40
1683 SLF014 Sulfite Oxidase Deficiency, Isolated 40
1684 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1685 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 40
1686 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
1687 c HYP699 Hyperekplexia 1 40
1688 P ANT061 Antenatal Bartter Syndrome 40
1689 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 40
1690 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
1691 c HYP534 Hypomagnesemia 3, Renal 40
1692 c STR085 Striatonigral Degeneration, Infantile 39
1693 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39
1694 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
1695 APL017 Apolipoprotein C-Ii Deficiency 39
1696 MTC008 Mitochondrial Complex Iii Deficiency 39
1697 c PRK093 Parkinson Disease 8, Autosomal Dominant 39
1698 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
1699 P STR001 Striatonigral Degeneration 38
1700 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 38
1701 c CTR096 Cataract 6, Multiple Types 38
1702 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 38
1703 c ALB024 Albinism, Ocular, Type I 38
1704 c CTR130 Cataract 9, Multiple Types 38
1705 c CTR103 Cataract 4, Multiple Types 38
1706 INF129 Infantile Cerebellar-Retinal Degeneration 38
1707 c ERL056 Early-Onset Parkinson's Disease 38
1708 c CTR132 Cataract 3, Multiple Types 38
1709 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
1710 FLT009 Folate Malabsorption, Hereditary 38
1711 ACT209 Acatalasemia 37
1712 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 37
1713 MLN011 Malonyl-Coa Decarboxylase Deficiency 37
1714 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 37
1715 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 37
1716 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 37
1717 c PRK085 Parkinson Disease 1, Autosomal Dominant 37
1718 LGH003 Leigh Syndrome, French Canadian Type 36
1719 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
1720 c MTC060 Mitochondrial Dna Depletion Syndrome 9 36
1721 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 36
1722 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 36
1723 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 36
1724 c CHR682 Chronic Bilirubin Encephalopathy 36
1725 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1726 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 36
1727 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 36
1728 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 35
1729 c CTR141 Cataract 21, Multiple Types 35
1730 c CTR118 Cataract 14, Multiple Types 35
1731 c CTR170 Cataract 30, Multiple Types 35
1732 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
1733 P PRK101 Parkinsonism-Dystonia, Infantile, 1 35
1734 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 35
1735 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 35
1736 c CTR174 Cataract 40 35
1737 c CTR122 Cataract 5, Multiple Types 35
1738 c CTR115 Cataract 16, Multiple Types 35
1739 GLT005 Glutamate Formiminotransferase Deficiency 35
1740 c MTC059 Mitochondrial Dna Depletion Syndrome 5 35
1741 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 35
1742 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 35
1743 c PRK065 Parkinson Disease 20, Early-Onset 35
1744 c PRK071 Parkinson Disease 14, Autosomal Recessive 34
1745 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 34
1746 c CTR145 Cataract 44 34
1747 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
1748 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 34
1749 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 34
1750 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
1751 GLY058 Glycogen Storage Disease 0, Liver 34
1752 c PRK025 Parkinson Disease 10 34
1753 c MTC062 Mitochondrial Dna Depletion Syndrome 2 34
1754 PLV001 Pelvic Lipomatosis 33
1755 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 33
1756 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 33
1757 c GLY097 Glycogen Storage Disease Ixb 33
1758 c LVR030 Liver Failure, Infantile, Transient 33
1759 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 33
1760 LPS020 Lipase Deficiency, Combined 33
1761 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
1762 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
1763 HWK001 Hawkinsinuria 33
1764 P ALB023 Albinism, Ocular, with Sensorineural Deafness 33
1765 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
1766 CMB026 Combined Oxidative Phosphorylation Deficiency 12 33
1767 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 32
1768 CHR387 Chromosome Xp21 Deletion Syndrome 32
1769 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 32
1770 DGL002 D-Glyceric Aciduria 32
1771 c CTR129 Cataract 31, Multiple Types 31
1772 CKS001 Ck Syndrome 31
1773 c CTR102 Cataract 2, Multiple Types 31
1774 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 31
1775 CNG016 Congenital Intrinsic Factor Deficiency 31
1776 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 31
1777 FRC005 Fructosuria, Essential 30
1778 c PSD093 Pseudohypoaldosteronism, Type Iid 30
1779 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 30
1780 CRD231 Cardiomyopathy, Infantile Histiocytoid 30
1781 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 29
1782 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 29
1783 MTC026 Mitochondrial Myopathy with Lactic Acidosis 29
1784 PNT006 Pentosuria 29
1785 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 29
1786 c GLY009 Glycogen Storage Disease Xv 29
1787 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 29
1788 c ALB017 Albinism, Oculocutaneous, Type Vi 29
1789 c CTR181 Cataract 18 29
1790 c CTR095 Cataract 8, Multiple Types 29
1791 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
1792 c CTR175 Cataract 24 28
1793 c CTR166 Cataract 33, Multiple Types 28
1794 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
1795 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1796 c CTR113 Cataract 11, Multiple Types 28
1797 PYR025 Pyruvate Dehydrogenase E2 Deficiency 28
1798 c PRK052 Parkinson Disease 17 28
1799 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 27
1800 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 27
1801 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 27
1802 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 27
1803 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
1804 c CTR158 Cataract 37 27
1805 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 27
1806 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
1807 c ATS210 Autosomal Recessive Sideroblastic Anemia 27
1808 c SPS212 Spastic Ataxia 5, Autosomal Recessive 27
1809 c PRK091 Parkinson Disease 4, Autosomal Dominant 27
1810 c MTC014 Mitochondrial Dna Deletion Syndromes 27
1811 c CTR180 Cataract 22, Multiple Types 26
1812 P HRD207 Hereditary Transthyretin Amyloidosis 26
1813 GLT028 Glutaric Aciduria Iii 26
1814 c INF122 Infantile Krabbe Disease 25
1815 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 25
1816 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 25
1817 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 25
1818 c CTR116 Cataract 15, Multiple Types 25
1819 c INF138 Infantile Liver Failure Syndrome 2 25
1820 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
1821 CMB014 Combined Oxidative Phosphorylation Deficiency 3 25
1822 c PRK102 Parkinsonism-Dystonia, Infantile, 2 25
1823 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 25
1824 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
1825 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 25
1826 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
1827 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
1828 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 24
1829 c CTR131 Cataract 17, Multiple Types 24
1830 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 24
1831 CMB054 Combined Oxidative Phosphorylation Deficiency 23 24
1832 c CTR182 Cataract 23, Multiple Types 24
1833 c HYP510 Hyperekplexia 2 24
1834 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 24
1835 c CTR111 Cataract 36 24
1836 c CTR124 Cataract 10, Multiple Types 24
1837 c CTR165 Cataract 19, Multiple Types 24
1838 LGH013 Leigh Syndrome with Cardiomyopathy 24
1839 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 24
1840 c CTR105 Cataract 12, Multiple Types 24
1841 c PRK070 Parkinson Disease 21 24
1842 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1843 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 23
1844 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 23
1845 c CTR136 Cataract 41 23
1846 c CTR110 Cataract 26, Multiple Types 23
1847 PLY114 Polyglucosan Body Myopathy 2 23
1848 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
1849 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
1850 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 23
1851 c DWL003 Dowling-Degos Disease 2 23
1852 c CTR183 Cataract 38 23
1853 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 23
1854 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 23
1855 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 23
1856 c CTR125 Cataract 7 23
1857 MTC079 Mitochondrial Pyruvate Carrier Deficiency 23
1858 c PRK083 Parkinson Disease 22, Autosomal Dominant 23
1859 c ANM034 Anemia, Sideroblastic, 4 23
1860 c CTR162 Cataract 47 22
1861 c HYP519 Hyperekplexia 3 22
1862 c CTR169 Cataract 29 22
1863 c CTR184 Cataract 39, Multiple Types 22
1864 c HYP819 Hyperlipoproteinemia, Type Id 22
1865 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1866 c HYP825 Hyperekplexia 4 22
1867 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1868 c CTR187 Cataract 48 22
1869 IMM194 Immunodeficiency 59 and Hypoglycemia 22
1870 CMB051 Combined Oxidative Phosphorylation Deficiency 21 22
1871 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 21
1872 c CTR163 Cataract 46, Juvenile-Onset 21
1873 c JVN058 Juvenile-Onset Parkinson's Disease 21
1874 c PRK022 Parkinson Disease 12 21
1875 c PRK008 Parkinson Disease Type 9 21
1876 c DWL004 Dowling-Degos Disease 4 21
1877 c CTR119 Cataract 32, Multiple Types 20
1878 c CTR144 Cataract 43 20
1879 c CTR159 Cataract 35 20
1880 c CTR097 Cataract 34, Multiple Types 20
1881 c CTR185 Cataract 30 20
1882 c CTR106 Cataract 20, Multiple Types 20
1883 c HYP445 Hypomagnesemia 6, Renal 20
1884 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 20
1885 c CTR139 Cataract 42 20
1886 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 19
1887 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 19
1888 c CTR160 Cataract 45 19
1889 c CTR121 Cataract 25 19
1890 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 18
1891 INT043 Intestinal Disaccharidase Deficiency 18
1892 c CTR178 Cataract 27 18
1893 c CTR157 Cataract 28 18
1894 c PRK058 Parkinson Disease 16 17
1895 c CTR128 Cataract 33 17
1896 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 17
1897 c CHR471 Chronic Hepatic Porphyria 16
1898 c MTC182 Mitochondrial Dna Depletion Syndrome 16 16
1899 c GLT029 Glutaric Acidemia Type Iii 14
1900 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 14
1901 MN1002 Man1b1-Cdg 13
1902 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 13
1903 c DWL005 Dowling-Degos Disease 3 13
1904 c SPR097 Sporadic Hyperekplexia 13
1905 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 12
1906 c CTR025 Cataract, Total Congenital 11
1907 c SCN047 Secondary Pulmonary Hemosiderosis 10
1908 c FCS008 Fucosidosis Type 1 8
1909 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1910 RRD066 Rare Dyslipidemia 8
1911 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
1912 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 7
1913 MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 7
1914 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 7
1915 RNN007 Reunion Island Larsen-Like Syndrome 7
1916 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
1917 XYL001 Xylt1-Cdg 5
1918 C12001 C12orf65-Related Combined Oxidative Phosphorylation Defect 5
1919 P RRH027 Rare Hypercholesterolemia 5
1920 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
1921 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
1922 BLC019 Bile Acid Synthesis Defect with Cholestasis and Malabsorption 4
1923 c CTR008 Cataract Congenital Autosomal Dominant 4
1924 RRH007 Rare Hypolipidemia 4
1925 RRS005 Rare Syndromic Dyslipidemia 3
1926 DSR034 Disorder of Pterin Metabolism 3
1927 ACR006 Aceruloplasminemia 74
1928 PHN003 Phenylketonuria 73
1929 P HYP086 Hypothyroidism 70
1930 P CRN037 Craniosynostosis 69
1931 LGH007 Leigh Syndrome 69
1932 P KRB001 Krabbe Disease 68
1933 P TYS001 Tay-Sachs Disease 68
1934 P PRP003 Porphyria Cutanea Tarda 66
1935 CYS013 Cystinuria 66
1936 c CNG006 Congenital Hypothyroidism 65
1937 P CHR071 Charcot-Marie-Tooth Disease 65
1938 LPD008 Lipid Metabolism Disorder 64
1939 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 63
1940 GT001 Gout 63
1941 CHY002 Chylomicron Retention Disease 63
1942 LYS012 Lysosomal Acid Lipase Deficiency 63
1943 ALP103 Alpha-1-Antitrypsin Deficiency 63
1944 P MCP040 Mucopolysaccharidosis-Plus Syndrome 62
1945 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 62
1946 LBR030 Leber Optic Atrophy 61
1947 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 61
1948 LSC001 Lesch-Nyhan Syndrome 61
1949 P PRM002 Primary Hyperoxaluria 60
1950 PTR032 Peters-Plus Syndrome 60
1951 P GLL020 Gallbladder Disease 60
1952 MYC079 Myoclonic Epilepsy of Lafora 60
1953 P ERY058 Erythrocytosis, Familial, 1 60
1954 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 60
1955 c PRG047 Progressive Familial Intrahepatic Cholestasis 59
1956 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 58
1957 CHN055 Chanarin-Dorfman Syndrome 58
1958 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 58
1959 BLR008 Bilirubin Metabolic Disorder 58
1960 HYP732 Hyperalphalipoproteinemia 1 55
1961 P ACT010 Acth-Secreting Pituitary Adenoma 55
1962 P SPN301 Spinocerebellar Ataxia 2 55
1963 c SPN294 Spinocerebellar Ataxia 1 55
1964 P MNN019 Mannosidosis, Beta a, Lysosomal 54
1965 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 54
1966 c ERY048 Erythrocytosis, Familial, 2 53
1967 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
1968 c GLL024 Gallbladder Disease 1 53
1969 c HYP841 Hypoalphalipoproteinemia, Primary, 1 53
1970 c ALB010 Albinism, Oculocutaneous, Type Ib 53
1971 c HYP740 Hyperlipoproteinemia, Type V 53
1972 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
1973 CRB151 Cerebral Creatine Deficiency Syndrome 1 51
1974 c OPT053 Optic Atrophy 1 51
1975 c SPN312 Spinocerebellar Ataxia 14 51
1976 c PTT057 Pituitary Adenoma 4, Acth-Secreting 50
1977 c SPN309 Spinocerebellar Ataxia 6 50
1978 c SPN291 Spinocerebellar Ataxia 7 49
1979 P FML355 Familial Intrahepatic Cholestasis 49
1980 ENC055 Encephalopathy, Ethylmalonic 49
1981 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 49
1982 MSC077 Muscle Eye Brain Disease 48
1983 c SPN314 Spinocerebellar Ataxia 10 48
1984 P NRD007 Neurodegeneration with Brain Iron Accumulation 48
1985 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 48
1986 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48
1987 c HYP794 Hyperoxaluria, Primary, Type I 48
1988 P OLV001 Olivopontocerebellar Atrophy 48
1989 PHS021 Phosphoglycerate Dehydrogenase Deficiency 47
1990 c SPN296 Spinocerebellar Ataxia 17 47
1991 HRT031 Hartnup Disorder 47
1992 c PNT034 Pontocerebellar Hypoplasia, Type 2e 47
1993 MTH078 Methylmalonic Aciduria, Cblb Type 47
1994 HPT025 Hepatic Lipase Deficiency 47
1995 GLT007 Glutathione Synthetase Deficiency 47
1996 MTH021 Methylmalonic Acidemia with Homocystinuria 46
1997 c SPN311 Spinocerebellar Ataxia 13 45
1998 P DST107 Distal Renal Tubular Acidosis 45
1999 c CRN278 Craniosynostosis 1 45
2000 c SPN100 Spinocerebellar Ataxia 27 44
2001 c SPN097 Spinocerebellar Ataxia 23 44
2002 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 44
2003 LPP002 Lipoprotein Glomerulopathy 44
2004 c PNT049 Pontocerebellar Hypoplasia, Type 2d 44
2005 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 44
2006 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 43
2007 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 43
2008 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 42
2009 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 42
2010 c ORT011 Orthostatic Hypotension 1 42
2011 c SPN305 Spinocerebellar Ataxia 11 42
2012 c PNT037 Pontocerebellar Hypoplasia, Type 3 42
2013 MTH074 Methionine Adenosyltransferase I/iii Deficiency 42
2014 c PNT010 Pontocerebellar Hypoplasia Type 1 42
2015 c SPN103 Spinocerebellar Ataxia 31 42
2016 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 41
2017 c SPN106 Spinocerebellar Ataxia 5 41
2018 c SPN290 Spinocerebellar Ataxia 15 41
2019 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
2020 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
2021 P BRB001 Beriberi 41
2022 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 40
2023 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 40
2024 c MTC088 Mitochondrial Dna Depletion Syndrome 13 40
2025 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
2026 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 40
2027 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 40
2028 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 39
2029 c SPN265 Spinocerebellar Ataxia 36 39
2030 P PNT019 Pontocerebellar Hypoplasia 39
2031 c ALB015 Albinism, Oculocutaneous, Type V 39
2032 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 39
2033 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
2034 c SPN304 Spinocerebellar Ataxia 8 39
2035 c SPN283 Spinocerebellar Ataxia 37 38
2036 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 38
2037 LTH002 Lathosterolosis 37
2038 P SPS008 Spastic Ataxia 37
2039 c SPN293 Spinocerebellar Ataxia 12 37
2040 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 37
2041 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 37
2042 c SPN101 Spinocerebellar Ataxia 29 37
2043 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 37
2044 c BRD019 Bardet-Biedl Syndrome 7 37
2045 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 36
2046 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 36
2047 ASP024 Asparagine Synthetase Deficiency 36
2048 c PNT043 Pontocerebellar Hypoplasia, Type 4 35
2049 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 35
2050 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
2051 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 35
2052 c SPN095 Spinocerebellar Ataxia 19 35
2053 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 35
2054 c SPN266 Spinocerebellar Ataxia 35 35
2055 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 35
2056 c SPN096 Spinocerebellar Ataxia 21 34
2057 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
2058 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 34
2059 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 34
2060 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
2061 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
2062 MCR257 Microcephaly, Amish Type 33
2063 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
2064 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 33
2065 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
2066 c CRN277 Craniosynostosis 2 33
2067 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 33
2068 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 33
2069 c CNT101 Central Congenital Hypothyroidism 33
2070 c PNT032 Pontocerebellar Hypoplasia, Type 9 32
2071 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 32
2072 c SPN099 Spinocerebellar Ataxia 26 32
2073 c SPN104 Spinocerebellar Ataxia 34 32
2074 c ERY065 Erythrocytosis, Familial, 7 32
2075 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
2076 c GCH013 Gaucher Disease, Type Iiic 32
2077 c SPN299 Spinocerebellar Ataxia 20 32
2078 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 31
2079 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
2080 c SPN094 Spinocerebellar Ataxia 18 31
2081 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
2082 c FML324 Familial Porphyria Cutanea Tarda 31
2083 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
2084 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 31
2085 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 30
2086 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 30
2087 c SPN383 Spinocerebellar Ataxia 42 30
2088 c PRM316 Primary Congenital Hypothyroidism 30
2089 c PNT039 Pontocerebellar Hypoplasia, Type 7 30
2090 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 30
2091 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
2092 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
2093 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 30
2094 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
2095 c CRN281 Craniosynostosis 7 30
2096 c SPN286 Spinocerebellar Ataxia 40 30
2097 c SPN105 Spinocerebellar Ataxia 4 28
2098 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 28
2099 c PNT033 Pontocerebellar Hypoplasia, Type 10 28
2100 c PNT035 Pontocerebellar Hypoplasia, Type 1c 28
2101 PNC048 Pancreatic Lipase Deficiency 28
2102 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 28
2103 c SPN247 Spinocerebellar Ataxia Type 19/22 28
2104 HYP279 Hypercholanemia, Familial 28
2105 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
2106 c CRN221 Craniosynostosis 4 27
2107 c ORT012 Orthostatic Hypotension 2 27
2108 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 27
2109 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
2110 c SPS142 Spastic Ataxia 2, Autosomal Recessive 26
2111 c PNT047 Pontocerebellar Hypoplasia, Type 2b 26
2112 c SPS208 Spastic Ataxia 4, Autosomal Recessive 26
2113 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 26
2114 c SPS072 Spastic Ataxia 1, Autosomal Dominant 26
2115 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
2116 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 26
2117 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
2118 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
2119 c GLL027 Gallbladder Disease 4 26
2120 P PRM227 Primary Orthostatic Hypotension 26
2121 c SPN098 Spinocerebellar Ataxia 25 26
2122 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 25
2123 c SPN418 Spinocerebellar Ataxia 44 25
2124 c CRN217 Craniosynostosis 3 25
2125 c SPN427 Spinocerebellar Ataxia 48 25
2126 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
2127 c CHR135 Charcot-Marie-Tooth Disease Type 2a 25
2128 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
2129 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 25
2130 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
2131 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 24
2132 c SPN421 Spinocerebellar Ataxia 47 24
2133 c RRH009 Rare Hypothyroidism 24
2134 c TRN047 Transient Congenital Hypothyroidism 24
2135 CMB018 Combined Oxidative Phosphorylation Deficiency 7 24
2136 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
2137 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
2138 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 24
2139 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 23
2140 c CRN256 Craniosynostosis 6 23
2141 c ERY031 Erythrocytosis, Familial, 3 23
2142 c CHR139 Charcot-Marie-Tooth Disease Type 2c 23
2143 c PNT030 Pontocerebellar Hypoplasia, Type 8 23
2144 c SPN372 Spinocerebellar Ataxia 43 23
2145 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
2146 c SPN323 Spinocerebellar Ataxia 41 23
2147 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
2148 c ATS438 Autosomal Recessive Spastic Ataxia 22
2149 c ERY064 Erythrocytosis, Familial, 6 22
2150 c SPN419 Spinocerebellar Ataxia 45 22
2151 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 22
2152 c ERY067 Erythrocytosis, Familial, 8 22
2153 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
2154 c CRN216 Craniosynostosis 5 21
2155 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 21
2156 c SPN420 Spinocerebellar Ataxia 46 21
2157 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
2158 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
2159 c CHR549 Charcot-Marie-Tooth Disease Type 2l 21
2160 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 21
2161 c ERY032 Erythrocytosis, Familial, 4 20
2162 HRL006 Harel-Yoon Syndrome 20
2163 c CHR026 Charcot-Marie-Tooth Disease Type X 20
2164 BLD065 Blue Diaper Syndrome 20
2165 ZNC006 Zinc, Elevated Plasma 20
2166 c SPN102 Spinocerebellar Ataxia 30 20
2167 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
2168 c SPS233 Spastic Ataxia 9, Autosomal Recessive 19
2169 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 19
2170 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 19
2171 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 19
2172 c CHR142 Charcot-Marie-Tooth Disease Type 2f 19
2173 c ERY063 Erythrocytosis, Familial, 5 18
2174 c SPS191 Spastic Ataxia 7, Autosomal Dominant 18
2175 c SPN259 Spinocerebellar Ataxia 32 18
2176 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
2177 c CHR550 Charcot-Marie-Tooth Disease Type 2n 17
2178 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
2179 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
2180 c SPN107 Spinocerebellar Ataxia 9 17
2181 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
2182 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
2183 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16
2184 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
2185 c OLV005 Olivopontocerebellar Atrophy V 14
2186 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
2187 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
2188 c GLL026 Gallbladder Disease 3 12
2189 c GLL025 Gallbladder Disease 2 12
2190 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 12
2191 c CHR143 Charcot-Marie-Tooth Disease Type 2g 11
2192 c CHR571 Charcot-Marie-Tooth Disease Type 5 11
2193 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 11
2194 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 11
2195 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 10
2196 c SPS171 Spastic Ataxia 5 10
2197 c SPS214 Spastic Ataxia 4 9
2198 c CHR551 Charcot-Marie-Tooth Disease Type 2o 9
2199 c CHR553 Charcot-Marie-Tooth Disease Type 2q 9
2200 c RNL048 Renal Tubular Acidosis, Distal, Type 3 8
2201 c SPS170 Spastic Ataxia 2 8
2202 c SPS163 Spastic Ataxia 3 8
2203 c ATS437 Autosomal Dominant Spastic Ataxia 8
2204 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
2205 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
2206 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
2207 c SPS162 Spastic Ataxia 1 7
2208 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 7
2209 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
2210 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
2211 c SPS172 Spastic Ataxia 7 5
2212 c SPS229 Spastic Ataxia 8 5
2213 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
2214 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
2215 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
2216 c CRN093 Craniosynostosis Autosomal Dominant 5
2217 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
2218 c RRD014 Rare Adult Hypothyroidism 4
2219 MTB013 Metabolic Disease Involving Other Neurotransmitter Deficiency 3
2220 c AMY091 Amyotrophic Lateral Sclerosis 1 88
2221 CYS001 Cystic Fibrosis 84
2222 INS024 Insulin-Like Growth Factor I 79
2223 ADR007 Adrenoleukodystrophy 72
2224 P MPL001 Maple Syrup Urine Disease 68
2225 c NMN015 Niemann-Pick Disease, Type C1 67
2226 P 3MT016 3-Methylglutaconic Aciduria, Type Iii 64
2227 LRN002 Laron Syndrome 62
2228 NNL005 Non-Alcoholic Fatty Liver Disease 62
2229 P CRG003 Crigler-Najjar Syndrome, Type I 61
2230 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
2231 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
2232 HYP052 Hyperkalemic Periodic Paralysis 59
2233 GLB001 Gilbert Syndrome 58
2234 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
2235 BRN045 Brunner Syndrome 57
2236 VTM028 Vitamin E, Familial Isolated Deficiency of 57
2237 c ALB009 Albinism, Oculocutaneous, Type Ia 56
2238 PSD014 Pseudopseudohypoparathyroidism 56
2239 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56
2240 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
2241 PRP082 Porphyria, Congenital Erythropoietic 55
2242 HRL003 Hurler Syndrome 55
2243 P SJG002 Sjogren-Larsson Syndrome 54
2244 c HRM017 Hermansky-Pudlak Syndrome 2 54
2245 P TYR004 Tyrosinemia 54
2246 RNL051 Renal Cysts and Diabetes Syndrome 54
2247 BTY001 Butyrylcholinesterase Deficiency 52
2248 LPD016 Lipoid Proteinosis of Urbach and Wiethe 51
2249 IRN008 Iron Overload in Africa 51
2250 c EXS019 Exostoses, Multiple, Type I 51
2251 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
2252 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 51
2253 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
2254 HST006 Histidinemia 49
2255 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
2256 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
2257 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 48
2258 P PRP056 Porphyria, Acute Hepatic 46
2259 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 45
2260 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 45
2261 P CTR177 Citrullinemia, Type Ii, Adult-Onset 44
2262 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 44
2263 P HRD001 Hereditary Multiple Exostoses 44
2264 P THP004 Thiopurines, Poor Metabolism of, 1 44
2265 GRN013 Greenberg Dysplasia 44
2266 DBT090 Diabetes and Deafness, Maternally Inherited 43
2267 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 43
2268 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 42
2269 DHY011 Dihydropyrimidinase Deficiency 41
2270 c MTC063 Mitochondrial Dna Depletion Syndrome 3 41
2271 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 40
2272 PRM237 Primary Hypomagnesemia 40
2273 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 40
2274 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 40
2275 INF159 Infantile Sialic Acid Storage Disease 40
2276 c AMY069 Amyotrophic Lateral Sclerosis 21 40
2277 ART103 Arthrogryposis, Mental Retardation, and Seizures 39
2278 c HRM011 Hermansky-Pudlak Syndrome 8 39
2279 c AMY090 Amyotrophic Lateral Sclerosis 8 39
2280 P HYP769 Hyperlysinemia, Type I 38
2281 c EXS020 Exostoses, Multiple, Type Ii 38
2282 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
2283 c MTC058 Mitochondrial Dna Depletion Syndrome 6 38
2284 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38
2285 c AMY085 Amyotrophic Lateral Sclerosis 9 37
2286 c OPT068 Optic Atrophy 3, Autosomal Dominant 37
2287 c AMY088 Amyotrophic Lateral Sclerosis 3 36
2288 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 35
2289 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 35
2290 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 35
2291 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 34
2292 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
2293 c AMY083 Amyotrophic Lateral Sclerosis 11 34
2294 DFN350 Deafness, Aminoglycoside-Induced 33
2295 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 32
2296 P MSC002 Muscular Dystrophy-Dystroglycanopathy 32
2297 c AMY059 Amyotrophic Lateral Sclerosis 19 32
2298 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 32
2299 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 31
2300 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31
2301 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 31
2302 c AMY067 Amyotrophic Lateral Sclerosis 18 31
2303 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 31
2304 c AMY089 Amyotrophic Lateral Sclerosis 7 30
2305 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
2306 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 29
2307 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 29
2308 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
2309 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 28
2310 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
2311 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 28
2312 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 28
2313 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
2314 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 28
2315 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 28
2316 c AMY055 Amyotrophic Lateral Sclerosis 17 28
2317 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
2318 c AMY022 Amyotrophic Lateral Sclerosis Type 5 27
2319 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
2320 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
2321 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 26
2322 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 26
2323 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
2324 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26
2325 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
2326 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
2327 c OPT023 Optic Atrophy 2 25
2328 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
2329 GLT014 Glutathionuria 25
2330 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 25
2331 c AMY062 Amyotrophic Lateral Sclerosis 12 25
2332 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
2333 c OPT065 Optic Atrophy 9 24
2334 P PRM016 Primary Optic Atrophy 23
2335 c OPT024 Optic Atrophy 5 23
2336 c AMY063 Amyotrophic Lateral Sclerosis 20 23
2337 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 23
2338 c XLN229 X-Linked Chondrodysplasia Punctata 2 23
2339 c OPT064 Optic Atrophy 11 23
2340 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
2341 c AMY112 Amyotrophic Lateral Sclerosis 25 22
2342 c AMY110 Amyotrophic Lateral Sclerosis 24 22
2343 c XLN227 X-Linked Chondrodysplasia Punctata 1 22
2344 CMB047 Combined Oxidative Phosphorylation Deficiency 18 22
2345 c AMY074 Amyotrophic Lateral Sclerosis Type 14 22
2346 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 21
2347 c AMY108 Amyotrophic Lateral Sclerosis 23 21
2348 c EXS021 Exostoses, Multiple, Type Iii 20
2349 CMB063 Combined Oxidative Phosphorylation Deficiency 25 20
2350 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 20
2351 c OPT060 Optic Atrophy 8 20
2352 c OPT025 Optic Atrophy 6 18
2353 FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 18
2354 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 18
2355 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 17
2356 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 17
2357 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 16
2358 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 15
2359 c OPT059 Optic Atrophy 4 15
2360 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
2361 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 14
2362 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 12
2363 c AMY109 Amyotrophic Lateral Sclerosis Type 22 10
2364 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
2365 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 9
2366 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 9
2367 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
2368 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
2369 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 9
2370 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 9
2371 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 9
2372 P JVN036 Juvenile Sialidosis Type 2 7
2373 c SJG003 Sjogren-Larsson-Like Syndrome 5
2374 OPT078 Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome 4
2375 P HYP724 Hyperlipoproteinemia, Type Iii 74
2376 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
2377 WLS001 Wilson Disease 69
2378 CHD001 Chediak-Higashi Syndrome 68
2379 c CNG411 Congenital Disorder of Glycosylation, Type in 66
2380 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
2381 c GCH015 Gaucher Disease, Type I 65
2382 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 64
2383 MNK001 Menkes Disease 62
2384 P HYP370 Hypokalemic Periodic Paralysis, Type 1 62
2385 PRP083 Porphyria, Acute Intermittent 62
2386 GTL001 Gitelman Syndrome 62
2387 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 62
2388 c PSD108 Pseudohypoparathyroidism, Type Ia 61
2389 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
2390 RNL024 Renal Glucosuria 59
2391 c ALB021 Albinism, Oculocutaneous, Type Ii 59
2392 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 59
2393 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
2394 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58
2395 DBN001 Dubin-Johnson Syndrome 58
2396 ALK013 Alkaptonuria 57
2397 BTN003 Biotinidase Deficiency 56
2398 P FML012 Familial Partial Lipodystrophy 54
2399 P AMY084 Amyloidosis, Finnish Type 53
2400 ATR002 Atransferrinemia 53
2401 MLT135 Multiple Sulfatase Deficiency 52
2402 GYR004 Gyrate Atrophy of Choroid and Retina 52
2403 P D2H002 D-2-Hydroxyglutaric Aciduria 1 50
2404 PRN001 Purine Nucleoside Phosphorylase Deficiency 50
2405 c LPD021 Lipodystrophy, Familial Partial, Type 3 49
2406 DPM001 Dopamine Beta-Hydroxylase Deficiency 49
2407 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 47
2408 GLY014 Glycerol Kinase Deficiency 47
2409 CRB193 Cerebral Amyloid Angiopathy, App-Related 47
2410 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 46
2411 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 46
2412 c LPD019 Lipodystrophy, Partial, Acquired 44
2413 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 43
2414 ADN022 Adenylosuccinase Deficiency 43
2415 NCT003 N-Acetylglutamate Synthase Deficiency 42
2416 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
2417 BTR002 Beta-Ureidopropionase Deficiency 41
2418 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
2419 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 41
2420 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
2421 c 2HY001 2-Hydroxyglutaric Aciduria 40
2422 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 39
2423 c HRM012 Hermansky-Pudlak Syndrome 9 39
2424 TMT002 Temtamy Preaxial Brachydactyly Syndrome 39
2425 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 39
2426 GCH018 Gaucher Disease, Perinatal Lethal 39
2427 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
2428 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 37
2429 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 37
2430 IMM080 Immunodeficiency 23 36
2431 NST002 Nestor-Guillermo Progeria Syndrome 36
2432 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
2433 c HRM010 Hermansky-Pudlak Syndrome 7 35
2434 c HYP606 Hypokalemic Periodic Paralysis, Type 2 35
2435 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 34
2436 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 32
2437 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 30
2438 ADT008 Auditory Neuropathy and Optic Atrophy 27
2439 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
2440 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 27
2441 URC006 Urocanase Deficiency 25
2442 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
2443 c LPD044 Lipodystrophy, Familial Partial, Type 7 24
2444 c D2H003 D-2-Hydroxyglutaric Aciduria 2 23
2445 c FML249 Familial Amyloidosis, Finnish Type 21
2446 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
2447 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
2448 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
2449 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
2450 FBR012 Fabry Disease 68
2451 KRN002 Kearns-Sayre Syndrome 64
2452 c NMN013 Niemann-Pick Disease, Type a 58
2453 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 54
2454 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 54
2455 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 53
2456 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 52
2457 c MGL018 Megaloblastic Anemia 1 49
2458 SLR001 Sialuria 48
2459 c XLN110 X-Linked Charcot-Marie-Tooth Disease 45
2460 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 41
2461 P CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 40
2462 P PRR025 Perrault Syndrome 37
2463 AMN007 Aminoacylase 1 Deficiency 35
2464 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 34
2465 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 32
2466 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 29
2467 c PRR020 Perrault Syndrome 1 28
2468 c PRR026 Perrault Syndrome 5 27
2469 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 26
2470 c PRR022 Perrault Syndrome 2 25
2471 c PRR024 Perrault Syndrome 3 25
2472 c PRR021 Perrault Syndrome 4 25
2473 c PRR033 Perrault Syndrome 6 19
2474 ABT001 Abetalipoproteinemia 68
2475 NRM019 Neuraminidase Deficiency 61
2476 c TYR012 Tyrosinemia, Type I 61
2477 P RHZ001 Rhizomelic Chondrodysplasia Punctata 53
2478 FRC011 Fructose Intolerance, Hereditary 52
2479 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 39
2480 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 34
2481 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 28
2482