Metabolic Diseases Category (2655 diseases)


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

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# Family MCID Name MIFTS
1 LPT006 Leptin Receptor Deficiency 53
2 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 50
3 MMS001 Momo Syndrome 29
4 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 38
5 P DRG021 Drug Metabolism, Poor, Cyp2c19-Related 32
6 INT449 Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type 49
7 OBS037 Obesity-Hypoventilation Syndrome 47
8 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 40
9 c BDY020 Body Mass Index Quantitative Trait Locus 19 52
10 c BDY017 Body Mass Index Quantitative Trait Locus 14 45
11 c BDY005 Body Mass Index Quantitative Trait Locus 9 47
12 c BDY019 Body Mass Index Quantitative Trait Locus 18 47
13 c BDY010 Body Mass Index Quantitative Trait Locus 4 45
14 c BDY015 Body Mass Index Quantitative Trait Locus 12 45
15 c BDY006 Body Mass Index Quantitative Trait Locus 8 43
16 c BDY012 Body Mass Index Quantitative Trait Locus 7 43
17 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 43
18 PRP098 Proprotein Convertase 1/3 Deficiency 42
19 c ABD015 Abdominal Obesity-Metabolic Syndrome 4 19
20 MRB006 Morbid Obesity and Spermatogenic Failure 22
21 HYD021 Hydrocephalus Obesity Hypogonadism 19
22 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 32
23 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 49
24 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 31
25 P OBS015 Obesity, Hyperphagia, and Developmental Delay 25
26 RHH001 Rohhad 21
27 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16
28 GNT051 Genetic Non-Syndromic Obesity 6
29 c BDY021 Body Mass Index Quantitative Trait Locus 20 53
30 IRN004 Iron-Refractory Iron Deficiency Anemia 45
31 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 24
32 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 23
33 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 18
34 P INB001 Inborn Amino Acid Metabolism Disorder 11
35 c DRG022 Drug Metabolism, Altered, Cyp2c8-Related 10
36 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 4
37 c BDY011 Body Mass Index Quantitative Trait Locus 10 44
38 HYP364 Hyperostosis Frontalis Interna 32
39 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 10
40 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
41 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
42 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
43 P BRD002 Bardet-Biedl Syndrome 67
44 c BRD010 Bardet-Biedl Syndrome 1 65
45 c BRD015 Bardet-Biedl Syndrome 3 49
46 c BRD035 Bardet-Biedl Syndrome 15 35
47 HYP835 Hypothalamic Obesity 25
48 c BMN004 Biemond Syndrome Ii 23
49 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 22
50 P BMN001 Biemond Syndrome 18
51 P LDD007 Liddle Syndrome 1 59
52 P BRT004 Bartter Disease 57
53 c BRD014 Bardet-Biedl Syndrome 2 50
54 c BRT042 Bartter Syndrome, Type 3 48
55 ACT149 Acetaminophen Metabolism 37
56 PRN071 Parenteral Nutrition-Associated Cholestasis 30
57 ERY030 Erythrocyte Lactate Transporter Defect 27
58 MTB016 Metabolic Myopathy 24
59 c LDD008 Liddle Syndrome 2 23
60 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 23
61 c THP005 Thiopurines, Poor Metabolism of, 2 23
62 OBS067 Obesity Due to Melanocortin 4 Receptor Deficiency 22
63 SHR077 Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency 20
64 OBS060 Obesity Due to Sim1 Deficiency 20
65 c LDD009 Liddle Syndrome 3 19
66 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 18
67 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
68 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
69 P DRG023 Drug Metabolism, Altered, Ces1-Related 14
70 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
71 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 11
72 c ANM038 Anemia, Autoimmune Hemolytic 64
73 P HML002 Hemolytic Anemia 63
74 c VTM027 Vitamin D-Dependent Rickets, Type 2a 61
75 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
76 c BRD018 Bardet-Biedl Syndrome 6 49
77 c CNG027 Congenital Hemolytic Anemia 48
78 ADP001 Adiposis Dolorosa 46
79 c BRD017 Bardet-Biedl Syndrome 5 43
80 P VTM036 Vitamin D-Dependent Rickets 41
81 c BRD020 Bardet-Biedl Syndrome 8 40
82 c BRD053 Bardet-Biedl Syndrome 22 36
83 c BRD050 Bardet-Biedl Syndrome 21 29
84 DSR002 Disorders of Intracellular Cobalamin Metabolism 27
85 c BRD051 Bardet-Biedl Syndrome 20 27
86 c DRG020 Drug Metabolism, Poor, Cyp2d6-Related 22
87 SHR107 Short Stature-Obesity Syndrome 22
88 c VTM037 Vitamin D-Dependent Rickets Type 2b 21
89 DRR022 Diarrhea 12, with Microvillus Atrophy 20
90 GNT167 Genetic Obesity 19
91 SYN116 Syndromic Obesity 17
92 ANT078 Antipyrine Metabolism 17
93 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 15
94 TGL001 Tiglic Acidemia 13
95 c DSR027 Disorders of Vitamin D Metabolism 12
96 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 12
97 c RRH032 Rare Hemolytic Anemia 12
98 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 8
99 c RRC006 Rare Acquired Hemolytic Anemia 7
100 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 7
101 HYL006 Hyaluronan Metabolism, Defect in 5
102 c ERL064 Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome 5
103 c HML056 Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes 5
104 c HML057 Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies 5
105 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 5
106 DVL025 Developmental Anomaly of Metabolic Origin 4
107 MTB014 Metabolic Disease with Skin Involvement 4
108 OVR124 Overgrowth/obesity Syndrome 4
109 CHR069 Chronic Metabolic Polyneuropathy 4
110 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 4
111 c CNS020 Constitutional Anemia Due to Iron Metabolism Disorder 4
112 OTH019 Other Metabolic Disease with Skin Involvement 4
113 MTB010 Metabolic Diseases with Epilepsy 3
114 MTB015 Metabolic Disease with Cataract 3
115 OBS083 Obesity Due to Congenital Leptin Resistance 3
116 P CNS017 Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder 3
117 ATS458 Autosomal Recessive Metabolic Cerebellar Ataxia 3
118 P RRC005 Rare Constitutional Anemia 3
119 NPH110 Nephropathy Secondary to a Storage or Other Metabolic Disease 3
120 MTB011 Metabolic Neurotransmission Anomaly with Epilepsy 3
121 MTB017 Metabolic Disease with Dementia 3
122 GNT071 Genetic Overgrowth/obesity Syndrome 3
123 OTH015 Other Metabolic Disease with Epilepsy 3
124 AMN018 Amino Acid or Protein Metabolism Disease with Epilepsy 3
125 ENR004 Energy Metabolism Disorder with Epilepsy 3
126 RRG012 Rare Genetic Parathyroid Disease and Phosphocalcic Metabolism Disorder 3
127 c CNS016 Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder 3
128 STR105 Sterol Metabolism Disorder with Epilepsy 3
129 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 2
130 c TYP009 Type 2 Diabetes Mellitus 91
131 c TYP008 Type 1 Diabetes Mellitus 79
132 c MNN047 Mannosidosis, Alpha B, Lysosomal 70
133 c MCL062 Mucolipidosis Ii Alpha/beta 69
134 P MPL001 Maple Syrup Urine Disease 69
135 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
136 PRP001 Propionic Acidemia 68
137 P DBT009 Diabetes Mellitus 67
138 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 66
139 RCK004 Rickets 66
140 P AMY004 Amyloidosis 66
141 CTR172 Citrullinemia, Classic 65
142 P MTR004 Maturity-Onset Diabetes of the Young 65
143 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 65
144 c GLY003 Glycogen Storage Disease Iii 65
145 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 64
146 c PRT132 Protoporphyria, Erythropoietic, 1 62
147 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
148 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62
149 c MCP004 Mucopolysaccharidosis Iv 61
150 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
151 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 61
152 ASP002 Aspartylglucosaminuria 61
153 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 61
154 c HYP841 Hypoalphalipoproteinemia, Primary, 1 61
155 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 60
156 P NMN002 Niemann-Pick Disease 60
157 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 60
158 HYP066 Hyperglycemia 60
159 c PRX059 Peroxisome Biogenesis Disorder 1a 59
160 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 59
161 MTC205 Mitochondrial Complex Iv Deficiency, Nuclear Type 1 58
162 FMR004 Fumarase Deficiency 58
163 c GLY011 Glycogen Storage Disease Vii 57
164 HYP005 Hypokalemia 56
165 c MCP048 Mucopolysaccharidosis, Type Ivb 56
166 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
167 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
168 GLB001 Gilbert Syndrome 55
169 c HMC035 Hemochromatosis, Type 4 55
170 P HYP050 Hyperinsulinemic Hypoglycemia 55
171 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55
172 IMM080 Immunodeficiency 23 54
173 P HMC002 Homocystinuria 54
174 HYP781 Hypoascorbemia 54
175 P NNT058 Neonatal Diabetes 53
176 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 53
177 PRT038 Protein-Energy Malnutrition 53
178 HYP017 Hypophosphatemia 53
179 P EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 53
180 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 53
181 MTC207 Mitochondrial Complex Ii Deficiency, Nuclear Type 1 52
182 PRX005 Peroxisomal Biogenesis Disorder 52
183 P NGH001 Night Blindness 52
184 P L2H001 L-2-Hydroxyglutaric Aciduria 52
185 P LCT001 Lactic Acidosis 51
186 FLT009 Folate Malabsorption, Hereditary 51
187 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
188 MTC206 Mitochondrial Complex Iv Deficiency, Nuclear Type 5 51
189 P MTH008 Methylmalonic Acidemia 51
190 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 50
191 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 50
192 CMR002 Coumarin Resistance 50
193 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 50
194 XNT003 Xanthomatosis 49
195 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
196 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 49
197 c 3MT014 3-Methylglutaconic Aciduria, Type V 49
198 P GNG009 Gangliosidosis 49
199 HYP550 Hypomagnesemia 1, Intestinal 48
200 CLC006 Calcinosis 48
201 P HYP058 Hypervitaminosis a 48
202 c TYP031 Type 1 Diabetes Mellitus 5 48
203 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 48
204 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
205 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 47
206 CMB012 Combined Oxidative Phosphorylation Deficiency 1 47
207 HYP025 Hyperphosphatemia 47
208 ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 46
209 c TYP028 Type 1 Diabetes Mellitus 2 46
210 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 46
211 c TYR011 Tyrosinemia, Type Iii 46
212 BTN004 Biotin Deficiency 45
213 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
214 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45
215 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 45
216 CMB011 Combined Malonic and Methylmalonic Aciduria 44
217 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
218 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
219 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 44
220 c BRD045 Bardet-Biedl Syndrome 19 44
221 DGL002 D-Glyceric Aciduria 43
222 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 43
223 c BRD044 Bardet-Biedl Syndrome 17 43
224 c HYP651 Hypogonadotropic Hypogonadism 23 with or Without Anosmia 43
225 FRS004 Free Sialic Acid Storage Disorders 43
226 c BRD033 Bardet-Biedl Syndrome 13 43
227 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
228 c HRD039 Hereditary Amyloidosis 42
229 c HMC019 Hemochromatosis, Type 2b 42
230 CMB064 Combined Oxidative Phosphorylation Deficiency 24 42
231 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
232 P HYP121 Hypoalphalipoproteinemia 41
233 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
234 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
235 c HMC034 Hemochromatosis, Type 5 41
236 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
237 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
238 c HYP881 Hypogonadotropic Hypogonadism 24 with or Without Anosmia 40
239 END028 Endemic Goiter 40
240 c BRD047 Bardet-Biedl Syndrome 16 39
241 c HYP057 Hypervitaminosis D 39
242 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 39
243 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 39
244 MTC208 Mitochondrial Complex Iv Deficiency, Nuclear Type 2 38
245 CMB091 Combined Oxidative Phosphorylation Deficiency 39 38
246 MYP097 Myopathy with Lactic Acidosis, Hereditary 38
247 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
248 c GLY043 Glycogen Storage Disease Xii 37
249 c D2H003 D-2-Hydroxyglutaric Aciduria 2 37
250 CMB008 Combined Oxidative Phosphorylation Deficiency 36
251 c TYP036 Type 1 Diabetes Mellitus 12 36
252 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 36
253 MTC008 Mitochondrial Complex Iii Deficiency 36
254 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 36
255 PRP109 Peripheral Neuropathy with Variable Spasticity, Exercise Intolerance, and Developmental Delay 36
256 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 35
257 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 34
258 CMB087 Combined Oxidative Phosphorylation Deficiency 37 34
259 c ALB015 Albinism, Oculocutaneous, Type V 34
260 c INF122 Infantile Krabbe Disease 34
261 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 34
262 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
263 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
264 c PRC046 Precocious Puberty, Central, 2 33
265 CMB047 Combined Oxidative Phosphorylation Deficiency 18 33
266 CRB137 Cerebral Creatine Deficiency Syndrome 33
267 MCL022 Mucolipidoses 33
268 BTR002 Beta-Ureidopropionase Deficiency 33
269 c PRX051 Peroxisome Biogenesis Disorder 6a 33
270 c TYP034 Type 1 Diabetes Mellitus 8 33
271 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 33
272 c TYP027 Type 1 Diabetes Mellitus 10 32
273 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 32
274 5XP001 5-Oxoprolinase Deficiency 32
275 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 32
276 c HYP564 Hypocalcemia, Autosomal Dominant 2 32
277 c TYP055 Type 1 Diabetes Mellitus 22 32
278 APL024 Apolipoprotein C-Iii Deficiency 32
279 c TYP038 Type 1 Diabetes Mellitus 15 31
280 c PRX048 Peroxisome Biogenesis Disorder 10a 31
281 c TYP054 Type 1 Diabetes Mellitus 21 31
282 MNC004 Monoclonal Paraproteinemia 31
283 P PRX064 Peroxisome Biogenesis Disorder 2b 30
284 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 30
285 c PRX052 Peroxisome Biogenesis Disorder 13a 30
286 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
287 CMB051 Combined Oxidative Phosphorylation Deficiency 21 30
288 CMB053 Combined Oxidative Phosphorylation Deficiency 22 30
289 c TYP032 Type 1 Diabetes Mellitus 6 30
290 ADN090 Adenosylcobalamin Deficiency 30
291 CPP004 Copper Deficiency Myelopathy 29
292 HRL006 Harel-Yoon Syndrome 29
293 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 29
294 c TYP056 Type 1 Diabetes Mellitus 23 29
295 c PRX066 Peroxisome Biogenesis Disorder 3b 29
296 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
297 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
298 CMB042 Combined Oxidative Phosphorylation Deficiency 16 29
299 CMB096 Combined Oxidative Phosphorylation Deficiency 40 29
300 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 29
301 c TYP053 Type 1 Diabetes Mellitus 20 28
302 c TYP033 Type 1 Diabetes Mellitus 7 28
303 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 28
304 HYP866 Hypervalinemia and Hyperleucine-Isoleucinemia 28
305 ACY011 Acyl-Coa Dehydrogenase Deficiency 28
306 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
307 c VTM035 Vitamin D-Dependent Rickets, Type 3 27
308 c TYP035 Type 1 Diabetes Mellitus 11 27
309 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
310 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 27
311 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
312 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 26
313 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
314 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 26
315 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
316 c TYP029 Type 1 Diabetes Mellitus 3 26
317 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
318 ALC035 Alcoholic Ketoacidosis 26
319 SRN001 Serine Deficiency 26
320 c TYP030 Type 1 Diabetes Mellitus 4 26
321 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
322 c TYP057 Type 1 Diabetes Mellitus 24 25
323 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
324 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
325 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 25
326 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 25
327 MTC115 Mitochondrial Myopathy, Lethal, Infantile 25
328 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 25
329 THM026 Thiamine Deficiency Disease 24
330 MTC155 Mitochondrial Complex I Deficiency, Nuclear Type 7 24
331 c HYP882 Hypogonadotropic Hypogonadism 26 with or Without Anosmia 24
332 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 24
333 c TYP039 Type 1 Diabetes Mellitus 17 24
334 ATY025 Atypical Glycine Encephalopathy 24
335 MTC209 Mitochondrial Complex Iv Deficiency, Nuclear Type 6 24
336 TRN067 Transcobalamin I Deficiency 24
337 c TYP052 Type 1 Diabetes Mellitus 19 23
338 PYR009 Pyridoxine Deficiency Anemia 23
339 c INT262 Intermediate Maple Syrup Urine Disease 23
340 MTC159 Mitochondrial Complex I Deficiency, Nuclear Type 11 23
341 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 23
342 ACD011 Acid Phosphatase Deficiency 23
343 c TYP049 Type 2 Diabetes Mellitus 2 23
344 MTC165 Mitochondrial Complex I Deficiency, Nuclear Type 18 22
345 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 22
346 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 22
347 CMB086 Combined Oxidative Phosphorylation Deficiency 36 22
348 MTC172 Mitochondrial Complex I Deficiency, Nuclear Type 26 22
349 MTC160 Mitochondrial Complex I Deficiency, Nuclear Type 13 22
350 MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 22
351 MTC175 Mitochondrial Complex I Deficiency, Nuclear Type 29 22
352 MTC147 Mitochondrial Complex I Deficiency, Nuclear Type 12 22
353 MTC171 Mitochondrial Complex I Deficiency, Nuclear Type 25 22
354 CTR189 Cataracts, Spastic Paraparesis, and Speech Delay 22
355 CMB104 Combined Oxidative Phosphorylation Deficiency 48 22
356 NCL010 Nuclear Type Mitochondrial Complex I Deficiency 22
357 c TYP058 Type 2 Diabetes 5 22
358 ATK002 Atkin-Flaitz Syndrome 21
359 PHS030 Phosphoribosylaminoimidazole Carboxylase Deficiency 21
360 c PRT135 Protoporphyria, Erythropoietic, 2 21
361 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 21
362 MTC177 Mitochondrial Complex I Deficiency, Nuclear Type 32 21
363 AMP011 Ampola Syndrome 21
364 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 20
365 CMB099 Combined Oxidative Phosphorylation Deficiency 43 20
366 c HYP883 Hypogonadotropic Hypogonadism 27 Without Anosmia 20
367 c HYP886 Hypoalphalipoproteinemia, Primary, 2, Intermediate 20
368 MLD011 Mild Hyperphenylalaninemia 20
369 MTC173 Mitochondrial Complex I Deficiency, Nuclear Type 27 20
370 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 20
371 MTC174 Mitochondrial Complex I Deficiency, Nuclear Type 28 20
372 HYD031 Hydroxyprolinemia 20
373 c TYS005 Tay-Sachs Disease, B1 Variant 19
374 c ACQ002 Acquired Night Blindness 19
375 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 19
376 CHL110 Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency 19
377 PHS019 Phosphohydroxylysinuria 18
378 MTC170 Mitochondrial Complex I Deficiency, Nuclear Type 24 18
379 c PRM150 Primary Localized Amyloidosis 18
380 c MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 18
381 c TYP037 Type 1 Diabetes Mellitus 13 17
382 c TYP051 Type 2 Diabetes Mellitus 4 17
383 c TYP040 Type 1 Diabetes Mellitus 18 17
384 MGL039 Megaloblastic Anemia, Folate-Responsive 17
385 c TYP050 Type 2 Diabetes Mellitus 3 15
386 XYL001 Xylt1-Cdg 15
387 THM018 Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome 14
388 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 13
389 MTC191 Mitochondrial Dna-Related Mitochondrial Myopathy 12
390 P MTC140 Mitochondrial Dna Maintenance Defects 12
391 MTC033 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form 12
392 DSR083 Disorder of Amino Acid Absorption and Transport 12
393 c INT094 Intermediate Severe Salla Disease 10
394 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 10
395 c LCT020 Lactic Acidosis, Chronic Adult Form 9
396 c CNG628 Congenital Disorder of Glycosylation Iw 9
397 MTH046 Methylmalonic Acidemia Without Homocystinuria 7
398 c RRD067 Rare Diabetes Mellitus 7
399 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
400 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 7
401 P DSR041 Disorder of Multiple Glycosylation 6
402 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
403 TTR032 Tetrahydrobiopterin -Deficient Hyperphenylalaninemia 6
404 DSR032 Disorder of Manganese Transport 6
405 c MTC192 Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna 6
406 MTC231 Mitochondrial Type Mitochondrial Complex I Deficiency 6
407 c MTC190 Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies 6
408 c RRD012 Rare Diabetes Mellitus Type 1 5
409 c RRD013 Rare Diabetes Mellitus Type 2 5
410 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
411 EXR009 Exercise Intolerance with Lactic Acidosis 5
412 c LCT010 Lactic Acidosis Congenital Infantile 5
413 CRB012 Cerebral Folate Receptor Alpha Deficiency 5
414 STR107 Sterol Biosynthesis Disorder 4
415 DFC009 Defect in V-Atpase 4
416 GLY110 Glycogen Storage Disease Due to Glycogen Synthase Deficiency 4
417 DSR040 Disorder of Glycosphingolipid and Glycosylphosphatidylinositol Anchor Glycosylation 4
418 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 4
419 DFC008 Defect in Conserved Oligomeric Golgi Complex 4
420 DSR054 Disorder of Lipid Absorption and Transport 4
421 MTC185 Mitochondrial Substrate Carrier Disorder 4
422 DSR015 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis 4
423 GLC109 Glucose Transport Disorder 4
424 DSR044 Disorder of Lysosomal-Related Organelles 4
425 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
426 SRN004 Serine Biosynthesis Pathway Deficiency, Infantile/juvenile Form 3
427 UNS003 Unspecified Mitochondrial Disorder 3
428 DSR046 Disorder of O-Mannosylglycan Synthesis 3
429 DSR049 Disorder of O-Xylosyl/n-Acetylgalactosaminylglycan Synthesis 3
430 DSR066 Disorder of Ketolysis 3
431 DSR065 Disorder of Lysosomal Amino Acid Transport 3
432 GLT041 Glutatione Synthetase Deficiency with 5-Oxoprolinuria 3
433 DSR048 Disorder of O-N-Acetylgalactosaminylglycan Synthesis 3
434 DSR063 Disorder of Plasmalogens Biosynthesis 2
435 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 35
436 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 37
437 CHN077 Chung-Jansen Syndrome 34
438 P SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 37
439 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 37
440 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 32
441 P THY129 Thyroid Hormone Metabolism, Abnormal, 1 26
442 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 26
443 SRF006 Surfactant Dysfunction 37
444 MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 44
445 AYZ001 Ayazi Syndrome 9
446 RTN173 Retinal Dystrophy and Obesity 25
447 P LVR013 Liver Disease 71
448 c ACT134 Acute Liver Failure 57
449 c INF145 Infantile Liver Failure Syndrome 1 45
450 c LVR030 Liver Failure, Infantile, Transient 40
451 c INF194 Infantile Liver Failure Syndrome 31
452 c INF138 Infantile Liver Failure Syndrome 2 31
453 c LVR033 Liver Disease, Severe Congenital 25
454 c INF190 Infantile Liver Failure Syndrome 3 25
455 c BRD016 Bardet-Biedl Syndrome 4 50
456 c PSD092 Pseudohypoaldosteronism, Type Iie 47
457 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 31
458 NTR002 Nutritional Optic Neuropathy 22
459 c THY130 Thyroid Hormone Metabolism, Abnormal, 2 16
460 CMR005 Camera-Marugo-Cohen Syndrome 13
461 EFV001 Efavirenz, Poor Metabolism of 9
462 c BRD012 Bardet-Biedl Syndrome 11 59
463 c BRD011 Bardet-Biedl Syndrome 10 55
464 P SHR001 Short Bowel Syndrome 52
465 c BRD013 Bardet-Biedl Syndrome 12 51
466 c FTT011 Fatty Liver Disease 1 50
467 c BRD019 Bardet-Biedl Syndrome 7 44
468 CHR515 Chronic Atrial and Intestinal Dysrhythmia 44
469 c BRD021 Bardet-Biedl Syndrome 9 43
470 P SYN140 Syndrome with 46,xy Disorder of Sex Development 38
471 INT088 Intrinsic Factor Deficiency 37
472 CRT020 Cortisone Reductase Deficiency 37
473 c RNL125 Renal Tubular Acidosis, Distal, 1 37
474 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 34
475 P HYP658 Hypoplastic Amelogenesis Imperfecta 30
476 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 27
477 VLN001 Valinemia 20
478 MPL011 Maple Syrup Urine Disease, Mild Variant 20
479 c 46X060 46,xx Disorder of Sex Development 18
480 c HRD219 Hereditary Distal Renal Tubular Acidosis 16
481 c FTT012 Fatty Liver Disease 2 15
482 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
483 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
484 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
485 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
486 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
487 RRH020 Rare Hereditary Metabolic Disease with Peripheral Neuropathy 3
488 MTB018 Metabolic Disease with Intestinal Involvement 3
489 P BDY004 Body Mass Index Quantitative Trait Locus 11 82
490 P DMN001 Diamond-Blackfan Anemia 74
491 c HYP836 Hypercholesterolemia, Familial, 1 72
492 P TYS001 Tay-Sachs Disease 71
493 HRL003 Hurler Syndrome 69
494 ACR006 Aceruloplasminemia 69
495 LGH007 Leigh Syndrome 69
496 c HRD010 Hereditary Spastic Paraplegia 68
497 P GCH001 Gaucher's Disease 68
498 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 67
499 c CNG411 Congenital Disorder of Glycosylation, Type in 67
500 c TYR012 Tyrosinemia, Type I 67
501 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 66
502 c GLY060 Glycogen Storage Disease Ia 66
503 HYP056 Hypoglycemia 65
504 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 65
505 P CRG003 Crigler-Najjar Syndrome, Type I 65
506 MTC027 Mitochondrial Trifunctional Protein Deficiency 65
507 c DMN023 Diamond-Blackfan Anemia 1 64
508 P ENC018 Encephalopathy 64
509 P ALC033 Alcohol Use Disorder 64
510 NTR005 Nutritional Deficiency Disease 64
511 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
512 c ANM036 Anemia, Sideroblastic, 1 63
513 c MCP044 Mucopolysaccharidosis, Type Iiib 62
514 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
515 GST033 Gestational Diabetes 61
516 P SPN301 Spinocerebellar Ataxia 2 61
517 ERL001 Early Myoclonic Encephalopathy 61
518 ADN001 Adenosine Deaminase Deficiency 61
519 c LPM012 Lipomatosis, Multiple 60
520 DBF001 D-Bifunctional Protein Deficiency 60
521 c SPN309 Spinocerebellar Ataxia 6 60
522 IRN001 Iron Deficiency Anemia 59
523 ARG007 Argininemia 59
524 FRC011 Fructose Intolerance, Hereditary 59
525 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
526 DYS192 Dystonia, Dopa-Responsive 58
527 c SPN330 Spondylocostal Dysostosis 5 58
528 P ERY048 Erythrocytosis, Familial, 2 58
529 c ERY058 Erythrocytosis, Familial, 1 58
530 P TYR004 Tyrosinemia 58
531 BRT005 Barth Syndrome 57
532 VRG001 Variegate Porphyria 57
533 CRB150 Cerebral Creatine Deficiency Syndrome 2 57
534 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
535 c HYP740 Hyperlipoproteinemia, Type V 57
536 P CRP023 Carpenter Syndrome 1 57
537 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 57
538 c MCL046 Mucolipidosis Iii Alpha/beta 57
539 CRN295 Carnitine Palmitoyltransferase I Deficiency 56
540 c HMC009 Hemochromatosis Type 2 56
541 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 56
542 c SPN294 Spinocerebellar Ataxia 1 56
543 c SPN291 Spinocerebellar Ataxia 7 55
544 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
545 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55
546 c CRD259 Ceroid Lipofuscinosis, Neuronal, 6a 55
547 HYP060 Hyperinsulinism 55
548 c HYP840 Hypercholesterolemia, Familial, 4 54
549 ENC055 Encephalopathy, Ethylmalonic 54
550 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 54
551 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 53
552 GLC003 Glucose Intolerance 53
553 PRS127 Pearson Marrow-Pancreas Syndrome 53
554 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
555 LPD016 Lipoid Proteinosis of Urbach and Wiethe 52
556 c ACT078 Acute Porphyria 52
557 URC002 Urea Cycle Disorder 52
558 c CNT075 Central Precocious Puberty 52
559 SCR037 Sucrase-Isomaltase Deficiency, Congenital 52
560 c SPN106 Spinocerebellar Ataxia 5 52
561 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 52
562 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
563 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52
564 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
565 P SDR003 Sideroblastic Anemia 52
566 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
567 P MTC133 Mitochondrial Myopathy 51
568 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
569 c SPN311 Spinocerebellar Ataxia 13 51
570 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
571 LYS002 Lysosomal Storage Disease 51
572 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
573 P FNC026 Fanconi Renotubular Syndrome 1 51
574 FRC001 Fructose-1,6-Bisphosphatase Deficiency 51
575 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 51
576 P PRM030 Permanent Neonatal Diabetes Mellitus 51
577 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
578 MTH077 Methylmalonic Aciduria, Cbla Type 50
579 NRN005 Neuronal Ceroid-Lipofuscinoses 50
580 HYP014 Hyperuricemia 50
581 c HYP837 Hypercholesterolemia, Familial, 2 50
582 c XNT010 Xanthinuria, Type I 50
583 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
584 c INH020 Inherited Metabolic Disorder 50
585 c HRD227 Hereditary Spastic Paraplegia 35 50
586 c SPN100 Spinocerebellar Ataxia 27 50
587 MHR001 Mohr-Tranebjaerg Syndrome 49
588 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
589 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
590 MTH078 Methylmalonic Aciduria, Cblb Type 49
591 c SPN296 Spinocerebellar Ataxia 17 49
592 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
593 TRS021 Triosephosphate Isomerase Deficiency 48
594 CNZ001 Coenzyme Q10 Deficiency Disease 48
595 c SPN305 Spinocerebellar Ataxia 11 48
596 c HYP597 Hyperprolinemia, Type Ii 48
597 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
598 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
599 c SPN304 Spinocerebellar Ataxia 8 48
600 c SPN293 Spinocerebellar Ataxia 12 48
601 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
602 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
603 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
604 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
605 c SPN312 Spinocerebellar Ataxia 14 47
606 P XNT004 Xanthinuria 47
607 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
608 c 3MT015 3-Methylglutaconic Aciduria, Type I 47
609 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
610 MTB004 Metabolic Acidosis 47
611 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
612 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
613 c SPN314 Spinocerebellar Ataxia 10 46
614 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 46
615 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
616 HSD004 Hsd10 Mitochondrial Disease 46
617 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 46
618 LPD009 Lipid Storage Disease 46
619 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
620 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
621 HMS001 Hemosiderosis 46
622 P HYP776 Hyperparathyroidism, Neonatal Severe 46
623 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 46
624 P PRC019 Precocious Puberty 46
625 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 46
626 MRS001 Marasmus 46
627 P LPM005 Lipomatosis 46
628 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 46
629 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 46
630 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
631 GLT005 Glutamate Formiminotransferase Deficiency 46
632 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
633 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
634 IMN001 Iminoglycinuria 45
635 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
636 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
637 c DMN021 Diamond-Blackfan Anemia 6 45
638 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
639 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
640 SBL008 Sea-Blue Histiocyte Disease 45
641 c DMN029 Diamond-Blackfan Anemia 11 45
642 P SPN016 Spondylocostal Dysostosis 45
643 c SPN104 Spinocerebellar Ataxia 34 45
644 c HRD220 Hereditary Spastic Paraplegia 30 45
645 WRN004 Wrinkly Skin Syndrome 44
646 c SPN101 Spinocerebellar Ataxia 29 44
647 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
648 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
649 c SPN286 Spinocerebellar Ataxia 40 44
650 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 44
651 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
652 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
653 MCP033 Mucopolysaccharidoses 44
654 c MTC116 Mitochondrial Myopathy, Infantile, Transient 44
655 c SPN097 Spinocerebellar Ataxia 23 44
656 c 2HY001 2-Hydroxyglutaric Aciduria 44
657 GLT028 Glutaric Aciduria Iii 44
658 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 44
659 c SPN266 Spinocerebellar Ataxia 35 44
660 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 44
661 c SPN290 Spinocerebellar Ataxia 15 44
662 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
663 c SPN283 Spinocerebellar Ataxia 37 44
664 PHS023 Phosphoserine Aminotransferase Deficiency 43
665 P OCL001 Ocular Albinism 43
666 BTY001 Butyrylcholinesterase Deficiency 43
667 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 43
668 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
669 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
670 P ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 43
671 c ERY064 Erythrocytosis, Familial, 6 43
672 OVR063 Overnutrition 43
673 c ERY032 Erythrocytosis, Familial, 4 43
674 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 43
675 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
676 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 43
677 c HMC021 Hemochromatosis, Type 2a 43
678 c NLX003 Neu-Laxova Syndrome 2 43
679 c SPN247 Spinocerebellar Ataxia Type 19/22 43
680 INF159 Infantile Sialic Acid Storage Disease 43
681 TRN021 Transaldolase Deficiency 43
682 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
683 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
684 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
685 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
686 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 42
687 c CNG379 Congenital Disorder of Glycosylation, Type It 42
688 c SPN105 Spinocerebellar Ataxia 4 42
689 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
690 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 42
691 c DMN006 Diamond-Blackfan Anemia 3 42
692 c HYP272 Hypercholesterolemia, Familial, 3 42
693 c SPN265 Spinocerebellar Ataxia 36 42
694 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
695 c BRD048 Bardet-Biedl Syndrome 18 42
696 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
697 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
698 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
699 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
700 MLY001 Molybdenum Cofactor Deficiency 41
701 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
702 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 41
703 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
704 c ERY031 Erythrocytosis, Familial, 3 41
705 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 41
706 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
707 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 41
708 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
709 c SPN096 Spinocerebellar Ataxia 21 41
710 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
711 P HYP111 Hyperprolinemia 40
712 c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
713 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
714 c XNT011 Xanthinuria, Type Ii 40
715 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 40
716 CHR704 Chromosome 16p11.2 Deletion Syndrome 40
717 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 40
718 c SPN099 Spinocerebellar Ataxia 26 40
719 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
720 c SPN103 Spinocerebellar Ataxia 31 40
721 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
722 P MYG005 Myoglobinuria 40
723 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 40
724 c DMN017 Diamond-Blackfan Anemia 10 40
725 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
726 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
727 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 40
728 CMB025 Combined Oxidative Phosphorylation Deficiency 10 40
729 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 39
730 c ERY067 Erythrocytosis, Familial, 8 39
731 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
732 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
733 CHL045 Choline Deficiency Disease 39
734 CLS049 Classic Phenylketonuria 39
735 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
736 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
737 c PRX054 Peroxisome Biogenesis Disorder 12a 39
738 c ERY065 Erythrocytosis, Familial, 7 39
739 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
740 HYP782 Hypoglycemia, Leucine-Induced 39
741 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
742 c SPN419 Spinocerebellar Ataxia 45 39
743 SLT014 Salt and Pepper Developmental Regression Syndrome 38
744 MLN011 Malonyl-Coa Decarboxylase Deficiency 38
745 GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 38
746 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
747 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
748 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 38
749 CMB041 Combined Oxidative Phosphorylation Deficiency 13 38
750 c BDY007 Body Mass Index Quantitative Trait Locus 1 38
751 c DMN020 Diamond-Blackfan Anemia 8 38
752 PHS001 Phosphorus Metabolism Disease 38
753 MNR003 Mineral Metabolism Disease 38
754 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 38
755 c DMN024 Diamond-Blackfan Anemia 7 38
756 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
757 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 37
758 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
759 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 37
760 c SPN102 Spinocerebellar Ataxia 30 37
761 c PRX063 Peroxisome Biogenesis Disorder 2a 37
762 c SPN418 Spinocerebellar Ataxia 44 37
763 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
764 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 36
765 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
766 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 36
767 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
768 c 3MT007 3-Methylglutaconic Aciduria 36
769 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 36
770 c ERY063 Erythrocytosis, Familial, 5 36
771 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
772 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
773 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 36
774 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
775 c FNC034 Fanconi Renotubular Syndrome 2 35
776 c 3MT025 3-Methylglutaconic Aciduria, Type Viib 35
777 CMB016 Combined Oxidative Phosphorylation Deficiency 5 35
778 CMB046 Combined Oxidative Phosphorylation Deficiency 11 35
779 c CNG188 Congenital Disorder of Glycosylation, Type if 35
780 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
781 c HRD229 Hereditary Spastic Paraplegia 56 35
782 c SPN383 Spinocerebellar Ataxia 42 35
783 c SPS092 Spastic Paraplegia 11 35
784 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
785 c SPN299 Spinocerebellar Ataxia 20 35
786 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 35
787 CMB044 Combined Oxidative Phosphorylation Deficiency 14 35
788 c SPN095 Spinocerebellar Ataxia 19 35
789 c EPL155 Epilepsy, Progressive Myoclonic, 8 35
790 c SPN098 Spinocerebellar Ataxia 25 35
791 CRT091 Creatine Deficiency Disorders 35
792 c SPN427 Spinocerebellar Ataxia 48 35
793 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 34
794 c SPN094 Spinocerebellar Ataxia 18 34
795 HMX003 Heme Oxygenase 1 Deficiency 34
796 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 34
797 c CRP022 Carpenter Syndrome 2 34
798 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 34
799 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 34
800 PHS022 Phosphoserine Phosphatase Deficiency 34
801 P SPS012 Spastic Paraplegia 3a 34
802 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
803 c PRX065 Peroxisome Biogenesis Disorder 3a 34
804 c HRD226 Hereditary Spastic Paraplegia 49 33
805 GLY061 Glycogen Storage Disease 0, Muscle 33
806 c DMN018 Diamond-Blackfan Anemia 5 33
807 CNG462 Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type 33
808 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 33
809 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
810 CHL050 Cholesterol Ester Storage Disease 33
811 MTH021 Methylmalonic Acidemia with Homocystinuria 33
812 c SPS025 Spastic Paraplegia 15 32
813 c ALC016 Alcohol Sensitivity, Acute 32
814 P HRD207 Hereditary Transthyretin Amyloidosis 32
815 CMB013 Combined Oxidative Phosphorylation Deficiency 2 32
816 c DMN005 Diamond-Blackfan Anemia 2 32
817 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 32
818 c PRP091 Porphyria Cutanea Tarda, Type I 32
819 c DMN049 Diamond-Blackfan Anemia 20 32
820 KSH001 Keshan Disease 31
821 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 31
822 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 31
823 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
824 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
825 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 31
826 c MYG007 Myoglobinuria, Recurrent 31
827 NRT006 North American Indian Childhood Cirrhosis 31
828 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
829 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
830 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
831 c HYP445 Hypomagnesemia 6, Renal 30
832 c PRC047 Precocious Puberty, Central, 1 30
833 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 30
834 MTL002 Metal Metabolism Disorder 30
835 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
836 BDV001 Bdv Syndrome 30
837 P ACQ009 Acquired Metabolic Disease 30
838 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
839 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
840 MTH040 Methylmalonyl-Coa Epimerase Deficiency 29
841 c HRD186 Hereditary Spastic Paraplegia 51 29
842 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
843 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 29
844 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
845 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 29
846 CRB155 Carbonic Anhydrase Va Deficiency 29
847 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
848 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
849 c SPN372 Spinocerebellar Ataxia 43 29
850 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
851 c HRD188 Hereditary Spastic Paraplegia 72 29
852 c FNC066 Fanconi Renotubular Syndrome 5 29
853 c DMN022 Diamond-Blackfan Anemia 9 29
854 c SPS091 Spastic Paraplegia 4 29
855 c ALB016 Albinism, Oculocutaneous, Type Vii 29
856 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 28
857 c ENC066 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 28
858 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
859 DSR052 Disorder of Glyoxylate Metabolism 28
860 PRN024 Purine-Pyrimidine Metabolic Disorder 28
861 c PRX091 Peroxisome Biogenesis Disorder 8a 28
862 c SPN421 Spinocerebellar Ataxia 47 28
863 c SPS013 Spastic Paraplegia 8 28
864 WTB001 Wet Beriberi 28
865 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
866 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 28
867 c DMN019 Diamond-Blackfan Anemia 4 28
868 c GLY093 Glycogen Storage Disease Ixa 28
869 c HYP873 Hypercholanemia, Familial, 2 28
870 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
871 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
872 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 27
873 LPY002 Lipoyltransferase 1 Deficiency 27
874 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 27
875 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
876 CMB085 Combined Oxidative Phosphorylation Deficiency 35 27
877 c SPN451 Spinocerebellar Ataxia, Autosomal Recessive 29 27
878 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
879 c SPN420 Spinocerebellar Ataxia 46 26
880 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
881 PYR035 Pyrimidine Metabolic Disorder 26
882 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 26
883 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 26
884 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 26
885 c SPN458 Spinocerebellar Ataxia 49 26
886 CMB072 Combined Oxidative Phosphorylation Deficiency 28 26
887 c HYP872 Hypercholanemia, Familial 1 26
888 c SPN323 Spinocerebellar Ataxia 41 26
889 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
890 c SPN455 Spinocerebellar Ataxia, Autosomal Recessive 31 26
891 c HYP831 Hyperparathyroidism, Transient Neonatal 26
892 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 26
893 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
894 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 25
895 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
896 P HFH002 Hfe Hemochromatosis 25
897 CRB041 Carboxypeptidase N Deficiency 25
898 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
899 SDD011 Siddiqi Syndrome 25
900 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 25
901 CNG512 Congenital Disorder of Glycosylation, Type Iaa 25
902 c DMN045 Diamond-Blackfan Anemia-Like 25
903 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
904 DSR074 Disorder of Purine Metabolism 25
905 MYC030 Myoclonic Epilepsy Myopathy Sensory Ataxia 24
906 P VTM003 Vitamin Metabolic Disorder 24
907 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 24
908 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
909 c HRD210 Hereditary Spastic Paraplegia 23 24
910 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 24
911 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 24
912 c DMN028 Diamond-Blackfan Anemia 12 24
913 MTC162 Mitochondrial Complex I Deficiency, Nuclear Type 15 24
914 P FML367 Familial Hypercholanemia 24
915 c SPS042 Spastic Paraplegia 9 24
916 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 23
917 ISL082 Isolated Atp Synthase Deficiency 23
918 CMB103 Combined Oxidative Phosphorylation Deficiency 47 23
919 c SPS230 Spastic Paraplegia Type 49 23
920 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 23
921 HMC036 Homocystinuria Without Methylmalonic Aciduria 23
922 MTC176 Mitochondrial Complex I Deficiency, Nuclear Type 31 23
923 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
924 c GLY001 Glycogen Storage Disease Ix 23
925 MTC169 Mitochondrial Complex I Deficiency, Nuclear Type 23 23
926 CNZ012 Coenzyme Q10 Deficiency, Primary, 9 23
927 c FNC049 Fanconi Renotubular Syndrome 3 23
928 c SPN452 Spinocerebellar Ataxia, Autosomal Recessive 30 23
929 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
930 LYS024 Lysosomal and Lipase Deficiency 23
931 IMM248 Immunoglobulin Heavy-and-Light Chain 23
932 c DMN030 Diamond-Blackfan Anemia 13 23
933 ISL116 Isolated Complex Iii Deficiency 23
934 MTC211 Mitochondrial Complex Iv Deficiency, Nuclear Type 13 22
935 c TFR001 Tfr2-Related Hereditary Hemochromatosis 22
936 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
937 MTC203 Mitochondrial Complex I Deficiency, Nuclear Type 34 22
938 MTC156 Mitochondrial Complex I Deficiency, Nuclear Type 8 22
939 c SPN459 Spinocerebellar Ataxia, Autosomal Recessive 32 22
940 CMB107 Combined Oxidative Phosphorylation Deficiency 51 22
941 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 22
942 MTC214 Mitochondrial Complex I Deficiency, Nuclear Type 35 22
943 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 22
944 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
945 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
946 ATX038 Ataxia and Polyneuropathy, Adult-Onset 21
947 PRK103 Parkinsonism with Polyneuropathy 21
948 MTC161 Mitochondrial Complex I Deficiency, Nuclear Type 14 21
949 MTC201 Mitochondrial Complex V Deficiency, Nuclear Type 6 21
950 CMB101 Combined Oxidative Phosphorylation Deficiency 45 21
951 c ANM034 Anemia, Sideroblastic, 4 21
952 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 21
953 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 21
954 c ADL071 Adult Krabbe Disease 21
955 CMB097 Combined Oxidative Phosphorylation Deficiency 41 21
956 c DMN040 Diamond-Blackfan Anemia 16 20
957 c SPN259 Spinocerebellar Ataxia 32 20
958 MTC148 Mitochondrial Complex I Deficiency, Nuclear Type 30 20
959 c RRH023 Rare Hereditary Hemochromatosis 20
960 c DMN039 Diamond-Blackfan Anemia 17 20
961 c DMN047 Diamond-Blackfan Anemia 18 20
962 P DSR081 Disorder of Bile Acid Synthesis 19
963 CMB090 Combined Oxidative Phosphorylation Deficiency 38 19
964 PRM138 Pure Mitochondrial Myopathy 19
965 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 19
966 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
967 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 19
968 c ANM079 Anemia, Sideroblastic, 5 19
969 c DMN050 Diamond-Blackfan Anemia 21 19
970 c DMN048 Diamond-Blackfan Anemia 19 18
971 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 18
972 CMB106 Combined Oxidative Phosphorylation Deficiency 50 18
973 CNG607 Congenital Disorder of Glycosylation, Type Icc 18
974 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 18
975 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
976 c GLY116 Glycosylphosphatidylinositol Biosynthesis Defect 25 18
977 c MYG006 Myoglobinuria, Autosomal Dominant 17
978 HYD055 Hydroxylysinuria 17
979 c SPN107 Spinocerebellar Ataxia 9 16
980 CMB102 Combined Oxidative Phosphorylation Deficiency 46 16
981 LKT001 Leukotriene C4 Synthase Deficiency 16
982 CMB105 Combined Oxidative Phosphorylation Deficiency 49 16
983 c CHR471 Chronic Hepatic Porphyria 16
984 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
985 URD003 Uridine-Cytidineuria 16
986 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 16
987 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 15
988 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 15
989 TRC120 Tricarboxylic Acid Cycle, Defect of 15
990 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
991 MTC149 Mitochondrial Complex I Deficiency, Mitochondrial Type 1 15
992 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
993 INT043 Intestinal Disaccharidase Deficiency 15
994 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
995 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
996 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
997 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
998 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 13
999 INF171 Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 13
1000 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1001 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
1002 GLT042 Glutathione Synthetase Deficiency of Erythrocytes 13
1003 LYS028 Lysosomal Glycogen Storage Disease 13
1004 OLG024 Oligosaccharidosis 12
1005 DSR078 Disorder of Branched-Chain Amino Acid Metabolism 12
1006 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
1007 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
1008 OTH021 Other Metabolic Disease 12
1009 c STX006 Stxbp1-Related Encephalopathy 11
1010 DRR012 Diarrhea, Chronic, with Villous Atrophy 11
1011 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 11
1012 P CHY007 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 11
1013 LPC004 Lipoic Acid Biosynthesis Defects 10
1014 c BDY009 Body Mass Index Quantitative Trait Locus 3 10
1015 c ADL083 Adult-Onset Citrullinemia Type I 10
1016 c FNC067 Fanconi Renotubular Syndrome 4 10
1017 PRM376 Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome 10
1018 c SCN039 Secondary Central Precocious Puberty 10
1019 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 9
1020 CRB213 Cerebral Organic Aciduria 9
1021 TRN049 Transient Tyrosinemia of the Newborn 9
1022 c BDY016 Body Mass Index Quantitative Trait Locus 13 9
1023 c ACT189 Acute Neonatal Citrullinemia Type I 9
1024 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1025 c PSD023 Pseudo-Gaucher Disease 9
1026 CDC005 Cad-Cdg 9
1027 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 8
1028 HRM024 Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency 8
1029 c BDY013 Body Mass Index Quantitative Trait Locus 5 8
1030 c BDY018 Body Mass Index Quantitative Trait Locus 15 8
1031 c BDY008 Body Mass Index Quantitative Trait Locus 2 8
1032 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 8
1033 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
1034 c DSR045 Disorder of Protein N-Glycosylation 8
1035 DSR057 Disorder of Glycolysis 8
1036 c BDY014 Body Mass Index Quantitative Trait Locus 6 8
1037 P PRX076 Peroxisomal Beta-Oxidation Disorder 7
1038 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
1039 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 7
1040 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
1041 c RRP025 Rare Precocious Puberty 7
1042 c SPS040 Spastic Paraplegia 5b 7
1043 SPS235 Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency 7
1044 RRD066 Rare Dyslipidemia 6
1045 DSR021 Disorder of Lysine and Hydroxylysine Metabolism 6
1046 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1047 MTC180 Mitochondrial Dna-Related Dystonia 6
1048 c MTC189 Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna 6
1049 NLX008 Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency 5
1050 DSR030 Disorder of Iron Metabolism and Transport 5
1051 DSR069 Disorder of Pentose Phosphate Metabolism 5
1052 GLC108 Gluconeogenesis Disorder 5
1053 P RRH027 Rare Hypercholesterolemia 5
1054 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
1055 DSR075 Disorder of Pyridoxine Metabolism 5
1056 DSR071 Disorder of Glycerol Metabolism 5
1057 DSR033 Disorder of Metabolite Absorption and Transport 5
1058 DSR039 Disorder of Vitamin and Non-Protein Cofactor Absorption and Transport 4
1059 DSR051 Disorder of Carbohydrate Absorption and Transport 4
1060 DSR038 Disorder of Catecholamine Synthesis 4
1061 DSR059 Disorder of Carnitine Cycle and Carnitine Transport 4
1062 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 4
1063 DSR061 Disorder of Keton Body Transport 4
1064 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 4
1065 c MTB012 Metabolic Disease Due to Other Fatty Acid Oxidation Disorder 4
1066 STR106 Sterol Metabolism Disorder 4
1067 DSR029 Disorder of Zinc Metabolism and Transport 4
1068 RRH007 Rare Hypolipidemia 4
1069 DSR053 Disorder of Fatty Acid Oxidation and Ketogenesis 4
1070 ISL137 Isolated Oxidative Phosphorylation Complex Disorder 3
1071 c FML359 Familial Chylomicronemia Due to Inhibition of Lipoprotein Lipase Activity 3
1072 MTC186 Mitochondrial Protein Import Disorder 3
1073 MTC187 Mitochondrial Oxidative Phosphorylation Disorder with No Known Mechanism 3
1074 DSR028 Disorder of Magnesium Transport 3
1075 DSR043 Disorder of O-Xylosylglycan Synthesis 3
1076 DSR047 Disorder of Fucoglycosan Synthesis 3
1077 ADN058 Adenylosuccinase Lyase Deficiency 3
1078 AMN004 Aminoacylase Deficiency 3
1079 DSR085 Disorder of Amino Acid and Other Organic Acid Metabolism 3
1080 DSR062 Disorders of Pentose/polyol Metabolism 3
1081 MHM001 Mehmo Syndrome 49
1082 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38
1083 BRJ001 Borjeson-Forssman-Lehmann Syndrome 52
1084 P SYN080 Syndromic X-Linked Intellectual Disability 34 40
1085 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 29
1086 c SYN064 Syndromic X-Linked Intellectual Disability 28
1087 c SYN082 Syndromic X-Linked Intellectual Disability 14 23
1088 c SYN170 Syndromic X-Linked Intellectual Disability 94 20
1089 c SYN179 Syndromic X-Linked Intellectual Disability 17 20
1090 c SYN056 Syndromic X-Linked Intellectual Disability 7 19
1091 c SYN077 Syndromic X-Linked Intellectual Disability 12 16
1092 SKL034 Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus 14
1093 P PLY011 Polycystic Ovary Syndrome 59
1094 ULN003 Ulnar-Mammary Syndrome 58
1095 CLR029 Clark-Baraitser Syndrome 54
1096 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 50
1097 c PLY105 Polycystic Ovary Syndrome 1 43
1098 NST002 Nestor-Guillermo Progeria Syndrome 37
1099 c INT483 Intellectual Developmental Disorder, Autosomal Dominant 1 50
1100 c INT520 Intellectual Developmental Disorder, Autosomal Dominant 7 46
1101 c INT548 Intellectual Developmental Disorder, Autosomal Dominant 36 43
1102 c INT538 Intellectual Developmental Disorder, Autosomal Dominant 23 42
1103 c INT539 Intellectual Developmental Disorder, Autosomal Dominant 26 39
1104 c INT536 Intellectual Developmental Disorder, Autosomal Dominant 21 39
1105 c INT533 Intellectual Developmental Disorder, Autosomal Dominant 13 39
1106 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1107 c ATS525 Autosomal Dominant Intellectual Developmental Disorder 8 38
1108 c INT542 Intellectual Developmental Disorder, Autosomal Dominant 29 37
1109 c INT516 Intellectual Developmental Disorder, Autosomal Dominant 5 37
1110 c INT547 Intellectual Developmental Disorder, Autosomal Dominant 35 37
1111 c INT513 Intellectual Developmental Disorder, Autosomal Dominant 22 36
1112 c INT453 Intellectual Developmental Disorder, Autosomal Dominant 42 36
1113 c INT455 Intellectual Developmental Disorder, Autosomal Dominant 56 35
1114 c INT550 Intellectual Developmental Disorder, Autosomal Dominant 41 34
1115 c INT514 Intellectual Developmental Disorder, Autosomal Dominant 3 32
1116 c INT551 Intellectual Developmental Disorder, Autosomal Dominant 43 32
1117 c GLY017 Glycogen Storage Disease Ic 32
1118 c INT557 Intellectual Developmental Disorder, Autosomal Dominant 48 32
1119 c INT507 Intellectual Developmental Disorder, Autosomal Recessive 5 31
1120 P ATS522 Autosomal Dominant Intellectual Developmental Disorder 31
1121 c INT555 Intellectual Developmental Disorder, Autosomal Dominant 46 30
1122 c INT549 Intellectual Developmental Disorder, Autosomal Dominant 38 30
1123 c INT537 Intellectual Developmental Disorder, Autosomal Recessive 41 30
1124 c INT472 Intellectual Developmental Disorder, Autosomal Recessive 39 29
1125 c INT546 Intellectual Developmental Disorder, Autosomal Dominant 33 29
1126 c ATS526 Autosomal Dominant Intellectual Developmental Disorder 19 29
1127 c INT556 Intellectual Developmental Disorder, Autosomal Dominant 47 29
1128 c INT521 Intellectual Developmental Disorder, Autosomal Dominant 2 29
1129 c INT505 Intellectual Developmental Disorder, Autosomal Recessive 2 29
1130 c INT560 Intellectual Developmental Disorder, Autosomal Dominant 52 28
1131 c INT460 Intellectual Developmental Disorder, Autosomal Recessive 38 28
1132 c INT554 Intellectual Developmental Disorder, Autosomal Dominant 45 28
1133 c ATS527 Autosomal Dominant Intellectual Developmental Disorder 31 28
1134 c INT566 Intellectual Developmental Disorder, Autosomal Dominant 58 27
1135 c INT475 Intellectual Developmental Disorder, Autosomal Dominant 39 27
1136 c INT562 Intellectual Developmental Disorder, Autosomal Dominant 54 27
1137 c INT563 Intellectual Developmental Disorder, Autosomal Dominant 57 27
1138 c INT517 Intellectual Developmental Disorder, Autosomal Recessive 13 27
1139 c INT535 Intellectual Developmental Disorder, Autosomal Recessive 37 27
1140 c ATS523 Autosomal Recessive Intellectual Developmental Disorder 26
1141 c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 26
1142 c INT545 Intellectual Developmental Disorder, Autosomal Recessive 48 26
1143 c INT558 Intellectual Developmental Disorder, Autosomal Recessive 61 26
1144 c INT515 Intellectual Developmental Disorder, Autosomal Dominant 4 26
1145 c INT561 Intellectual Developmental Disorder, Autosomal Dominant 53 26
1146 c INT544 Intellectual Developmental Disorder, Autosomal Recessive 46 25
1147 c INT567 Intellectual Developmental Disorder, Autosomal Recessive 65 25
1148 c INT508 Intellectual Developmental Disorder, Autosomal Recessive 7 25
1149 c INT388 Intellectual Developmental Disorder, Autosomal Dominant 62 25
1150 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 24
1151 c INT506 Intellectual Developmental Disorder, Autosomal Recessive 3 24
1152 c INT523 Intellectual Developmental Disorder, Autosomal Dominant 10 24
1153 c ATS524 Autosomal Dominant Intellectual Developmental Disorder 6 24
1154 c INT471 Intellectual Developmental Disorder, Autosomal Recessive 27 24
1155 c INT400 Intellectual Developmental Disorder, Autosomal Dominant 65 24
1156 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 24
1157 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 24
1158 c INT385 Intellectual Developmental Disorder, Autosomal Dominant 61 24
1159 c INT478 Intellectual Developmental Disorder, Autosomal Recessive 57 24
1160 c INT559 Intellectual Developmental Disorder, Autosomal Dominant 51 24
1161 c INT479 Intellectual Developmental Disorder, Autosomal Recessive 58 24
1162 c INT477 Intellectual Developmental Disorder, Autosomal Recessive 74 24
1163 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 23
1164 c INT462 Intellectual Developmental Disorder, Autosomal Dominant 34 23
1165 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 23
1166 c INT540 Intellectual Developmental Disorder, Autosomal Recessive 44 23
1167 c INT484 Intellectual Developmental Disorder, Autosomal Recessive 1 23
1168 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 23
1169 c INT468 Intellectual Developmental Disorder, Autosomal Recessive 66 23
1170 c ATS529 Autosomal Dominant Intellectual Developmental Disorder 40 22
1171 c INT398 Intellectual Developmental Disorder, Autosomal Recessive 12 22
1172 c INT452 Intellectual Developmental Disorder, Autosomal Recessive 6 22
1173 c INT575 Intellectual Developmental Disorder, Autosomal Dominant 67 22
1174 c INT519 Intellectual Developmental Disorder, Autosomal Recessive 14 22
1175 c INT474 Intellectual Developmental Disorder, Autosomal Recessive 43 22
1176 c INT553 Intellectual Developmental Disorder, Autosomal Recessive 60 21
1177 c INT480 Intellectual Developmental Disorder, Autosomal Recessive 73 21
1178 c INT565 Intellectual Developmental Disorder, Autosomal Recessive 64 21
1179 c INT386 Intellectual Developmental Disorder, Autosomal Dominant 59 21
1180 c INT577 Intellectual Developmental Disorder, Autosomal Dominant 68 21
1181 c INT579 Intellectual Developmental Disorder, Autosomal Recessive 77 21
1182 c INT573 Intellectual Developmental Disorder, Autosomal Dominant 66 21
1183 c INT464 Intellectual Developmental Disorder, Autosomal Recessive 51 21
1184 c INT534 Intellectual Developmental Disorder, Autosomal Recessive 35 20
1185 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 20
1186 c INT564 Intellectual Developmental Disorder, Autosomal Recessive 63 20
1187 c INT512 Intellectual Developmental Disorder, Autosomal Recessive 4 19
1188 c INT467 Intellectual Developmental Disorder, Autosomal Recessive 56 19
1189 c INT461 Intellectual Developmental Disorder, Autosomal Recessive 47 18
1190 c INT576 Intellectual Developmental Disorder, Autosomal Recessive 76 18
1191 c INT541 Intellectual Developmental Disorder, Autosomal Recessive 45 18
1192 c INT509 Intellectual Developmental Disorder, Autosomal Recessive 9 18
1193 c INT463 Intellectual Developmental Disorder, Autosomal Recessive 50 18
1194 c INT466 Intellectual Developmental Disorder, Autosomal Recessive 54 18
1195 c INT465 Intellectual Developmental Disorder, Autosomal Recessive 52 17
1196 c INT531 Intellectual Developmental Disorder, Autosomal Recessive 25 17
1197 c INT510 Intellectual Developmental Disorder, Autosomal Recessive 10 17
1198 c INT552 Intellectual Developmental Disorder, Autosomal Recessive 59 17
1199 c INT527 Intellectual Developmental Disorder, Autosomal Recessive 30 16
1200 c INT526 Intellectual Developmental Disorder, Autosomal Recessive 33 16
1201 c INT530 Intellectual Developmental Disorder, Autosomal Recessive 24 16
1202 c INT525 Intellectual Developmental Disorder, Autosomal Recessive 29 16
1203 c INT522 Intellectual Developmental Disorder, Autosomal Recessive 16 15
1204 c INT532 Intellectual Developmental Disorder, Autosomal Recessive 28 15
1205 c INT529 Intellectual Developmental Disorder, Autosomal Recessive 23 15
1206 c INT572 Intellectual Developmental Disorder, Autosomal Dominant 69 15
1207 c INT524 Intellectual Developmental Disorder, Autosomal Recessive 31 14
1208 c INT511 Intellectual Developmental Disorder, Autosomal Recessive 11 14
1209 c INT528 Intellectual Developmental Disorder, Autosomal Recessive 19 14
1210 RRM017 Rare Metabolic Liver Disease 8
1211 c ATS531 Autosomal Recessive Intellectual Developmental Disorder 75 6
1212 c ATS530 Autosomal Recessive Intellectual Developmental Disorder 34 5
1213 P PRK057 Parkinson Disease, Late-Onset 81
1214 c MCP050 Mucopolysaccharidosis, Type Ii 74
1215 P MTC003 Metachromatic Leukodystrophy 72
1216 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 71
1217 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
1218 c MCP052 Mucopolysaccharidosis, Type Vi 70
1219 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
1220 c FML021 Familial Hypercholesterolemia 69
1221 P KRB001 Krabbe Disease 69
1222 P PRP003 Porphyria Cutanea Tarda 68
1223 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 67
1224 c MCP001 Mucopolysaccharidosis Iii 67
1225 c NMN013 Niemann-Pick Disease, Type a 66
1226 c GM1007 Gm1 Gangliosidosis 66
1227 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 65
1228 c MCP047 Mucopolysaccharidosis, Type Iva 65
1229 CYS013 Cystinuria 65
1230 c MCP049 Mucopolysaccharidosis, Type Vii 65
1231 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 64
1232 WST001 West Syndrome 64
1233 P ZLL001 Zellweger Syndrome 64
1234 PRP083 Porphyria, Acute Intermittent 64
1235 c MCP043 Mucopolysaccharidosis, Type Iiia 64
1236 LRN002 Laron Syndrome 63
1237 GT001 Gout 63
1238 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
1239 CRN239 Carnitine Deficiency, Systemic Primary 63
1240 P FNC004 Fanconi Syndrome 63
1241 ARG002 Argininosuccinic Aciduria 62
1242 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 62
1243 P HYP818 Hypobetalipoproteinemia, Familial, 1 62
1244 CHY002 Chylomicron Retention Disease 62
1245 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61
1246 c MCP045 Mucopolysaccharidosis, Type Iiic 61
1247 P FTT001 Fatty Liver Disease 61
1248 GLY010 Glycine Encephalopathy 61
1249 P NPH012 Nephrotic Syndrome 61
1250 DPM001 Dopamine Beta-Hydroxylase Deficiency 60
1251 ISC004 Ischemia 60
1252 P OCL002 Oculocutaneous Albinism 59
1253 GLC012 Galactosialidosis 59
1254 SDD001 Sudden Infant Death Syndrome 59
1255 c EXS019 Exostoses, Multiple, Type I 58
1256 IRN002 Iron Metabolism Disease 58
1257 LYS003 Lysinuric Protein Intolerance 57
1258 SJG002 Sjogren-Larsson Syndrome 57
1259 c NPH055 Nephrotic Syndrome, Type 1 57
1260 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 57
1261 IMM246 Immunoglobulin Light Chain Amyloidosis 57
1262 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
1263 c GM2005 Gm2-Gangliosidosis, Ab Variant 56
1264 P STS003 Sitosterolemia 56
1265 KRT002 Keratomalacia 56
1266 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 55
1267 c MCP046 Mucopolysaccharidosis, Type Iiid 55
1268 c GM1004 Gm1-Gangliosidosis, Type I 55
1269 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 55
1270 P PSD015 Pseudohypoparathyroidism 55
1271 P DST107 Distal Renal Tubular Acidosis 55
1272 P PRP056 Porphyria, Acute Hepatic 54
1273 PRN011 Pernicious Anemia 54
1274 c FML035 Familial Hyperlipidemia 54
1275 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
1276 FML026 Familial Lipoprotein Lipase Deficiency 54
1277 GLC009 Glucosephosphate Dehydrogenase Deficiency 54
1278 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
1279 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 53
1280 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 53
1281 c NPH049 Nephrotic Syndrome, Type 2 53
1282 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52
1283 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 52
1284 c GCH016 Gaucher Disease, Type Ii 52
1285 c GM1005 Gm1-Gangliosidosis, Type Ii 52
1286 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 52
1287 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
1288 VTM033 Vitamin K Deficiency Bleeding 52
1289 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 51
1290 HYP037 Hyperhomocysteinemia 51
1291 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 51
1292 P BRT050 Bartter Syndrome, Type 2, Antenatal 51
1293 NNL006 Non-Alcoholic Steatohepatitis 51
1294 c HRD173 Hereditary Late-Onset Parkinson Disease 51
1295 c DWL002 Dowling-Degos Disease 1 51
1296 c PRK085 Parkinson Disease 1, Autosomal Dominant 51
1297 c D2H002 D-2-Hydroxyglutaric Aciduria 1 51
1298 P MTC235 Mitochondrial Disease 51
1299 c NPH102 Nephrotic Syndrome, Type 14 50
1300 SLR001 Sialuria 50
1301 P HRD001 Hereditary Multiple Exostoses 50
1302 c MCL016 Mucolipidosis Iii Gamma 49
1303 MCR004 Macroglobulinemia 49
1304 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
1305 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 49
1306 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 49
1307 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
1308 P CNG003 Congenital Dyserythropoietic Anemia 48
1309 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 48
1310 GLY014 Glycerol Kinase Deficiency 48
1311 c STS010 Sitosterolemia 1 48
1312 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 48
1313 c PRK071 Parkinson Disease 14, Autosomal Recessive 48
1314 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 48
1315 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 48
1316 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 47
1317 ALB002 Albinism 47
1318 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
1319 c GM1006 Gm1-Gangliosidosis, Type Iii 47
1320 SCH030 Schneckenbecken Dysplasia 47
1321 c FML015 Familial Nephrotic Syndrome 47
1322 MNC019 Monocarboxylate Transporter 1 Deficiency 47
1323 c ZLL011 Zellweger Spectrum Disorder 47
1324 c HYP210 Hypomagnesemia 2, Renal 47
1325 HST006 Histidinemia 47
1326 c BRT052 Bartter Syndrome, Type 1, Antenatal 47
1327 c GCH013 Gaucher Disease, Type Iiic 46
1328 P DWL001 Dowling-Degos Disease 46
1329 SPH010 Sphingolipidosis 46
1330 MLT018 Multiple Carboxylase Deficiency 46
1331 CTN011 Cutaneous Porphyria 46
1332 CYS019 Cystathioninuria 46
1333 CRD231 Cardiomyopathy, Infantile Histiocytoid 45
1334 c PRK065 Parkinson Disease 20, Early-Onset 45
1335 c GM2006 Gm2 Gangliosidosis 45
1336 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 45
1337 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 45
1338 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 45
1339 CRB148 Cerebral Creatine Deficiency Syndrome 3 45
1340 c BRD032 Bardet-Biedl Syndrome 14 45
1341 KWS001 Kwashiorkor 45
1342 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 44
1343 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
1344 HYP236 Hyperbilirubinemia, Rotor Type 44
1345 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 44
1346 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
1347 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 44
1348 AMN002 Amino Acid Metabolic Disorder 44
1349 c NPH072 Nephrotic Syndrome, Type 7 44
1350 DCR008 Dicarboxylic Aminoaciduria 44
1351 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 43
1352 c ANM080 Anemia, Congenital Dyserythropoietic, Type Iiia 43
1353 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 43
1354 c GLY044 Glycogen Storage Disease Ixc 43
1355 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 43
1356 SPS241 Spastic Paraplegia 35, Autosomal Recessive, with or Without Neurodegeneration 43
1357 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 43
1358 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 43
1359 c PRK052 Parkinson Disease 17 43
1360 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 43
1361 PRM237 Primary Hypomagnesemia 43
1362 TMP012 Temple Syndrome 43
1363 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 43
1364 NTR007 Neutral Lipid Storage Disease with Myopathy 42
1365 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 42
1366 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 42
1367 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 42
1368 c MCP051 Mucopolysaccharidosis, Type Ix 42
1369 c CHR682 Chronic Bilirubin Encephalopathy 42
1370 c HYP290 Hypobetalipoproteinemia, Familial, 2 42
1371 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 42
1372 c NPH054 Nephrotic Syndrome, Type 3 42
1373 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 42
1374 c NPH076 Nephrotic Syndrome, Type 10 42
1375 CMB017 Combined Oxidative Phosphorylation Deficiency 6 41
1376 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 41
1377 c PRK091 Parkinson Disease 4, Autosomal Dominant 41
1378 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 41
1379 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 40
1380 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 40
1381 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 40
1382 3MT027 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia 40
1383 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 40
1384 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 40
1385 CMB082 Combined Oxidative Phosphorylation Deficiency 33 40
1386 c CNG413 Congenital Short Bowel Syndrome 40
1387 GLC008 Glucose Metabolism Disease 39
1388 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39
1389 HMC038 Hemochromatosis, Neonatal 39
1390 c NPH047 Nephrotic Syndrome, Type 4 39
1391 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
1392 c EXS020 Exostoses, Multiple, Type Ii 39
1393 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 39
1394 ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 39
1395 NRD151 Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy 39
1396 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 39
1397 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 39
1398 MTC005 Mitochondrial Metabolism Disease 39
1399 c PRX055 Peroxisome Biogenesis Disorder 11a 39
1400 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 39
1401 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 38
1402 RTN231 Retinal Dystrophy with Leukodystrophy 38
1403 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 38
1404 c HYP302 Hypomagnesemia 4, Renal 38
1405 c ERL056 Early-Onset Parkinson's Disease 38
1406 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 38
1407 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 38
1408 c NPH117 Nephrotic Syndrome, Type 24 37
1409 HYD030 Hydroxykynureninuria 37
1410 PLY010 Polyclonal Hypergammaglobulinemia 37
1411 c NPH108 Nephrotic Syndrome, Type 20 37
1412 FML285 Familial Apolipoprotein C-Ii Deficiency 37
1413 CMB019 Combined Oxidative Phosphorylation Deficiency 8 37
1414 CMB015 Combined Oxidative Phosphorylation Deficiency 4 36
1415 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 36
1416 c NPH074 Nephrotic Syndrome, Type 9 36
1417 CHR387 Chromosome Xp21 Deletion Syndrome 36
1418 CMB045 Combined Oxidative Phosphorylation Deficiency 19 36
1419 c GLY006 Glycogen Storage Disease Viii 36
1420 CMB049 Combined Oxidative Phosphorylation Deficiency 17 36
1421 c PRK070 Parkinson Disease 21 35
1422 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 35
1423 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 35
1424 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 35
1425 CMB043 Combined Oxidative Phosphorylation Deficiency 9 35
1426 CYS045 Cystinosis, Adult Nonnephropathic 35
1427 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 34
1428 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 34
1429 PYR016 Pyridoxine Deficiency 34
1430 c FNC059 Fanconi-Like Syndrome 34
1431 CNG064 Congenital Chloride Diarrhea 34
1432 GLT040 Glutamate-Cysteine Ligase Deficiency 33
1433 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 33
1434 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
1435 c HML046 Heimler Syndrome 2 33
1436 CMB078 Combined Oxidative Phosphorylation Deficiency 32 33
1437 PPC001 Pepck 1 Deficiency 32
1438 c FML324 Familial Porphyria Cutanea Tarda 32
1439 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 32
1440 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
1441 c NPH111 Nephrotic Syndrome, Type 21 31
1442 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 31
1443 c DRY002 Dry Beriberi 31
1444 c NPH115 Nephrotic Syndrome, Type 23 31
1445 ATX010 Ataxia Neuropathy Spectrum 30
1446 STR018 Steroid Inherited Metabolic Disorder 30
1447 LGH012 Leigh Syndrome with Leukodystrophy 30
1448 PLV001 Pelvic Lipomatosis 30
1449 c PRK081 Parkinson Disease 19a, Juvenile-Onset 30
1450 ACD003 Acid Sphingomyelinase Deficiency 29
1451 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1452 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 29
1453 P ENC069 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 29
1454 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 29
1455 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 29
1456 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 29
1457 SCC002 Saccharopinuria 28
1458 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 28
1459 ISL083 Isolated Cytochrome C Oxidase Deficiency 28
1460 CMB077 Combined Oxidative Phosphorylation Deficiency 30 28
1461 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 28
1462 GLY054 Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency 28
1463 CRT011 Carotenemia 28
1464 c NPH103 Nephrotic Syndrome, Type 15 27
1465 WRF006 Warfarin Sensitivity, X-Linked 27
1466 VRR003 Verruciform Xanthoma of Skin 27
1467 c PRK083 Parkinson Disease 22, Autosomal Dominant 27
1468 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 27
1469 c SPS136 Spastic Ataxia 3, Autosomal Recessive 27
1470 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 27
1471 c NPH114 Nephrotic Syndrome, Type 22 27
1472 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 27
1473 c STS011 Sitosterolemia 2 27
1474 c PRK098 Parkinson Disease 5, Autosomal Dominant 27
1475 P ACT241 Acute Bilirubin Encephalopathy 27
1476 CRN042 Carnosinemia 27
1477 DSR031 Disorder of Copper Metabolism 27
1478 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
1479 MTC025 Mitochondrial Myopathy with Diabetes 27
1480 3HY001 3-Hydroxyisobutyric Aciduria 26
1481 c MCP055 Mucopolysaccharidosis, Type X 26
1482 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 26
1483 c NPH096 Nephrotic Syndrome, Type 12 26
1484 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 26
1485 c NPH073 Nephrotic Syndrome, Type 8 26
1486 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 26
1487 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
1488 c NPH095 Nephrotic Syndrome, Type 11 26
1489 c PRK099 Parkinson Disease 18, Autosomal Dominant 26
1490 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 26
1491 HYP690 Hyper-Beta-Alaninemia 25
1492 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 25
1493 c NPH105 Nephrotic Syndrome, Type 17 25
1494 LYS029 Lysosomal Disease 25
1495 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 25
1496 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
1497 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 25
1498 CMB100 Combined Oxidative Phosphorylation Deficiency 44 24
1499 c NPH070 Nephrotic Syndrome, Type 6 24
1500 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
1501 c PRK096 Parkinson Disease 13, Autosomal Dominant 24
1502 PLS010 Plasma Protein Metabolism Disease 24
1503 c DWL003 Dowling-Degos Disease 2 24
1504 c JVN058 Juvenile-Onset Parkinson's Disease 24
1505 c NPH106 Nephrotic Syndrome, Type 18 24
1506 GNT042 Genetic Recurrent Myoglobinuria 24
1507 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
1508 MTR016 Maternal Hyperphenylalaninemia 23
1509 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 23
1510 LCT017 Lactate Dehydrogenase B Deficiency 23
1511 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1512 MTC215 Mitochondrial Complex Iv Deficiency, Nuclear Type 4 23
1513 TRH001 Trehalase Deficiency 23
1514 c NPH093 Nephrotic Syndrome, Type 13 22
1515 c NPH107 Nephrotic Syndrome, Type 19 22
1516 BLC020 Bile Acid Conjugation Defect 1 22
1517 BTM003 Beta-Aminoisobutyric Aciduria 22
1518 c 3MT026 3-Methylglutaconic Aciduria, Type Viia 22
1519 c CHR715 Charcot-Marie-Tooth Disease, Axonal, Type 2gg 22
1520 c CHR716 Charcot-Marie-Tooth Disease, Axonal, Type 2hh 22
1521 MTC220 Mitochondrial Complex Iv Deficiency, Nuclear Type 12 21
1522 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 21
1523 CMB098 Combined Oxidative Phosphorylation Deficiency 42 21
1524 c PRK104 Parkinson Disease 24, Autosomal Dominant 21
1525 c NPH104 Nephrotic Syndrome, Type 16 21
1526 c DWL004 Dowling-Degos Disease 4 21
1527 c CHR714 Charcot-Marie-Tooth Disease, Axonal, Type 2ff 20
1528 c EXS021 Exostoses, Multiple, Type Iii 20
1529 c PRK025 Parkinson Disease 10 20
1530 c PRK058 Parkinson Disease 16 20
1531 MTC227 Mitochondrial Complex Iv Deficiency, Nuclear Type 20 19
1532 FLN005 Folinic Acid-Responsive Seizures 19
1533 c NPH119 Nephrotic Syndrome, Type 26 19
1534 c CHR731 Charcot-Marie-Tooth Disease, Axonal, Type 2ii 18
1535 PRM380 Primary Triglyceride Deposit Cardiomyovasculopathy 17
1536 MTC210 Mitochondrial Complex Iv Deficiency, Nuclear Type 9 17
1537 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
1538 c PRK022 Parkinson Disease 12 16
1539 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
1540 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
1541 c PRM372 Primary Mitochondrial Disorders 16
1542 c LTN017 Late-Infantile/juvenile Krabbe Disease 16
1543 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 16
1544 c SCN046 Secondary Short Bowel Syndrome 16
1545 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 16
1546 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 15
1547 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 14
1548 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 14
1549 c DWL005 Dowling-Degos Disease 3 13
1550 c VPS003 Vps35-Related Parkinson Disease 12
1551 DSR023 Disorder of Tryptophan Metabolism 12
1552 DSR056 Disorder of Fructose Metabolism 11
1553 DSR072 Disorder of Energy Metabolism 11
1554 c APB002 Apob-Related Familial Hypobetalipoproteinemia 11
1555 c ISC017 Isca2-Related Mitochondrial Disorder 9
1556 HMC043 Homocystinuria-Megaloblastic Anemia Cble Type 9
1557 FML360 Familial Apolipoprotein A5 Deficiency 8
1558 DSR025 Disorder of Phenylalanine Metabolism 8
1559 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 8
1560 GTL002 Gitelman-Like Kidney Tubulopathy Due to Mitochondrial Dna Mutation 7
1561 DSR019 Disorder of Proline Metabolism 6
1562 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 6
1563 C12001 C12orf65-Related Combined Oxidative Phosphorylation Defect 6
1564 c PRM318 Primary Short Bowel Syndrome 5
1565 DSR077 Disorder of the Gamma-Glutamyl Cycle 5
1566 DSR058 Disorder of Sialic Acid Metabolism 5
1567 P RRH006 Rare Hyperlipidemia 5
1568 DSR084 Disorder of Urea Cycle Metabolism and Ammonia Detoxification 5
1569 DSR060 Disorder of Thiamine Metabolism and Transport 5
1570 DSR079 Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism 5
1571 MTC188 Mitochondrial Membrane Transport Disorder 4
1572 P DSR042 Disorder of Protein O-Glycosylation 4
1573 BLC019 Bile Acid Synthesis Defect with Cholestasis and Malabsorption 4
1574 DSR024 Disorder of Folate Metabolism and Transport 4
1575 c DSR009 Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation 4
1576 c DSR050 Disorder of Beta and Omega Amino Acid Metabolism 4
1577 EGF001 Egf-Related Primary Hypomagnesemia with Intellectual Disability 4
1578 CLS056 Classic Organic Aciduria 4
1579 DSR034 Disorder of Pterin Metabolism 4
1580 DSR022 Disorder of Glutamine Metabolism 4
1581 DSR070 Disorder of Fatty Acid Oxidation and Ketone Body Metabolism 3
1582 DSR014 Disorder of Melanin Metabolism 3
1583 RRS005 Rare Syndromic Dyslipidemia 3
1584 DSR082 Disorder of Neurotransmitter Metabolism and Transport 3
1585 DSR018 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement 3
1586 DSR067 Disorder of Ornithine or Proline Metabolism 3
1587 DSR037 Disorder of Other Vitamins and Cofactors Metabolism and Transport 3
1588 DSR017 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement 3
1589 DSR064 Disorder of Biogenic Amine Metabolism and Transport 3
1590 DSR073 Disorder of Phenylalanin or Tyrosine Metabolism 3
1591 DSR076 Disorder of Serine or Glycine Metabolism 3
1592 LPT014 Leptin Deficiency or Dysfunction 78
1593 PHN003 Phenylketonuria 76
1594 c HMC039 Hemochromatosis, Type 1 75
1595 c GLY008 Glycogen Storage Disease Ii 72
1596 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 69
1597 ABT001 Abetalipoproteinemia 69
1598 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
1599 SND001 Sandhoff Disease 68
1600 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1601 c GLY004 Glycogen Storage Disease V 65
1602 MNK001 Menkes Disease 64
1603 c GLY007 Glycogen Storage Disease Iv 64
1604 HYP020 Hyperprolactinemia 64
1605 LBR038 Leber Hereditary Optic Neuropathy, Modifier of 64
1606 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64
1607 TNG002 Tangier Disease 64
1608 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 64
1609 c HYP794 Hyperoxaluria, Primary, Type I 64
1610 P HRM001 Hermansky-Pudlak Syndrome 63
1611 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
1612 P HYP838 Hyperlipidemia, Familial Combined, 3 62
1613 P EPL198 Epilepsy, Myoclonic Juvenile 62
1614 c DVL042 Developmental and Epileptic Encephalopathy 14 62
1615 ATX019 Ataxia with Vitamin E Deficiency 61
1616 c DVL030 Developmental and Epileptic Encephalopathy 36 61
1617 GLT035 Glutaric Acidemia I 61
1618 EPL131 Epilepsy, Pyridoxine-Dependent 61
1619 RNL024 Renal Glucosuria 60
1620 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1621 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 60
1622 DNN001 Danon Disease 60
1623 c GLY005 Glycogen Storage Disease Vi 59
1624 P CTR177 Citrullinemia, Type Ii, Adult-Onset 59
1625 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 59
1626 BRN045 Brunner Syndrome 59
1627 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 59
1628 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
1629 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 58
1630 c PRG047 Progressive Familial Intrahepatic Cholestasis 58
1631 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
1632 c GCH017 Gaucher Disease, Type Iii 58
1633 NNL005 Non-Alcoholic Fatty Liver Disease 58
1634 BLR008 Bilirubin Metabolic Disorder 58
1635 c DVL033 Developmental and Epileptic Encephalopathy 1 57
1636 c HRM005 Hermansky-Pudlak Syndrome 1 57
1637 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57
1638 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 56
1639 P LMB006 Limb-Girdle Muscular Dystrophy 56
1640 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 56
1641 PYC001 Pycnodysostosis 56
1642 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 56
1643 c HRM017 Hermansky-Pudlak Syndrome 2 56
1644 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 56
1645 HYP732 Hyperalphalipoproteinemia 1 55
1646 P PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54
1647 NCT003 N-Acetylglutamate Synthase Deficiency 54
1648 IRN008 Iron Overload in Africa 54
1649 c DVL038 Developmental and Epileptic Encephalopathy 7 54
1650 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 54
1651 MSC077 Muscle Eye Brain Disease 54
1652 P LCT002 Lactose Intolerance 54
1653 MTC020 Mitochondrial Complex Ii Deficiency 53
1654 c HYP739 Hyperlipoproteinemia, Type Iv 53
1655 c DVL029 Developmental and Epileptic Encephalopathy 2 53
1656 c NMN014 Niemann-Pick Disease, Type C2 53
1657 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1658 c DVL027 Developmental and Epileptic Encephalopathy 9 52
1659 P INT068 Intestinal Disease 52
1660 HMZ003 Homozygous Familial Hypercholesterolemia 52
1661 c HYP603 Hyperoxaluria, Primary, Type Iii 52
1662 P PLM085 Pulmonary Hemosiderosis 52
1663 HRT031 Hartnup Disorder 52
1664 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 52
1665 P DVL113 Developmental and Epileptic Encephalopathy 51
1666 P INT001 Intrahepatic Cholestasis 51
1667 P NLX004 Neu-Laxova Syndrome 1 51
1668 P RNL007 Renal Tubular Acidosis 51
1669 c HMC010 Hemochromatosis, Type 3 51
1670 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 50
1671 c HYP602 Hyperoxaluria, Primary, Type Ii 50
1672 c DVL041 Developmental and Epileptic Encephalopathy 13 50
1673 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 50
1674 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
1675 c TRN032 Transient Neonatal Diabetes Mellitus 50
1676 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 50
1677 SGW002 Segawa Syndrome, Autosomal Recessive 50
1678 c HRM009 Hermansky-Pudlak Syndrome 6 50
1679 P MCL001 Mucolipidosis 50
1680 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 50
1681 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 49
1682 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 49
1683 c HRM006 Hermansky-Pudlak Syndrome 3 49
1684 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 49
1685 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 49
1686 CMB020 Combined Saposin Deficiency 49
1687 c CHR095 Chronic Progressive External Ophthalmoplegia 49
1688 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 49
1689 HLC001 Holocarboxylase Synthetase Deficiency 49
1690 c SPN308 Spinocerebellar Ataxia 28 49
1691 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 49
1692 c SCH069 Schindler Disease, Type I 48
1693 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 48
1694 P ACT010 Acth-Secreting Pituitary Adenoma 48
1695 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
1696 VTM002 Vitamin B12 Deficiency 48
1697 TRN022 Transcobalamin Ii Deficiency 48
1698 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 48
1699 SNG007 Sengers Syndrome 48
1700 MTH089 Methylmalonic Aciduria and Homocystinuria, Cblx Type 48
1701 c HRM008 Hermansky-Pudlak Syndrome 5 48
1702 c GLY115 Glycogen Storage Disease Ixd 48
1703 HYP870 Hyperuricemia, Hprt-Related 47
1704 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
1705 P SPN448 Spondyloepimetaphyseal Dysplasia with Joint Laxity 47
1706 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 47
1707 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 47
1708 c DVL035 Developmental and Epileptic Encephalopathy 4 47
1709 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
1710 c PTT057 Pituitary Adenoma 4, Acth-Secreting 47
1711 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 47
1712 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 47
1713 c HRM012 Hermansky-Pudlak Syndrome 9 46
1714 P PSD003 Pseudohypoaldosteronism 46
1715 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 46
1716 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 46
1717 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 46
1718 PRX001 Peroxisomal Disease 46
1719 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 46
1720 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 46
1721 c GLY016 Glycogen Storage Disease Ib 46
1722 c DVL118 Developmental and Epileptic Encephalopathy 94 46
1723 c GLY009 Glycogen Storage Disease Xv 46
1724 P PLL002 Pellagra 46
1725 c DVL048 Developmental and Epileptic Encephalopathy 21 45
1726 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
1727 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
1728 c DVL039 Developmental and Epileptic Encephalopathy 11 45
1729 WRN003 Wernicke Encephalopathy 45
1730 DVL146 Developmental and Epileptic Encephalopathy 39 with Leukodystrophy 45
1731 LCT013 Lactase Deficiency, Congenital 45
1732 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 45
1733 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 45
1734 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 45
1735 ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 44
1736 c FML363 Familial Adult Myoclonic Epilepsy 44
1737 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 44
1738 c SPN284 Spinocerebellar Ataxia 38 44
1739 c DVL056 Developmental and Epileptic Encephalopathy 30 44
1740 GLY015 Glycine N-Methyltransferase Deficiency 44
1741 c DVL068 Developmental and Epileptic Encephalopathy 43 44
1742 GBM001 Gaba Aminotransferase Deficiency 44
1743 c HYP248 Hyperprolinemia, Type I 44
1744 WLD008 Wild-Type Amyloidosis 43
1745 c DVL099 Developmental and Epileptic Encephalopathy 75 43
1746 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
1747 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
1748 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 43
1749 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 43
1750 P SLL003 Salla Disease 43
1751 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 43
1752 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43
1753 c DVL067 Developmental and Epileptic Encephalopathy 42 43
1754 c DVL044 Developmental and Epileptic Encephalopathy 16 43
1755 c MYC083 Myoclonic Epilepsy, Familial Infantile 43
1756 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
1757 c DVL077 Developmental and Epileptic Encephalopathy 53 42
1758 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
1759 c DVL076 Developmental and Epileptic Encephalopathy 52 42
1760 c DVL037 Developmental and Epileptic Encephalopathy 5 42
1761 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 42
1762 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 42
1763 c DVL049 Developmental and Epileptic Encephalopathy 23 42
1764 c DVL062 Developmental and Epileptic Encephalopathy 35 42
1765 c HRM007 Hermansky-Pudlak Syndrome 4 41
1766 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 41
1767 CYT014 Cytochrome P450 Oxidoreductase Deficiency 41
1768 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 41
1769 c DVL072 Developmental and Epileptic Encephalopathy 47 41
1770 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 41
1771 ACR122 Aica-Ribosuria Due to Atic Deficiency 41
1772 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 40
1773 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 40
1774 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 40
1775 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 40
1776 c DVL100 Developmental and Epileptic Encephalopathy 76 40
1777 c HRM010 Hermansky-Pudlak Syndrome 7 40
1778 c DVL045 Developmental and Epileptic Encephalopathy 17 40
1779 c DVL064 Developmental and Epileptic Encephalopathy 38 40
1780 c DVL034 Developmental and Epileptic Encephalopathy 3 39
1781 c DVL061 Developmental and Epileptic Encephalopathy 34 39
1782 c DVL098 Developmental and Epileptic Encephalopathy 74 39
1783 c DVL052 Developmental and Epileptic Encephalopathy 26 39
1784 c DVL028 Developmental and Epileptic Encephalopathy 8 39
1785 P FML362 Familial Isolated Hypoparathyroidism 39
1786 c DVL040 Developmental and Epileptic Encephalopathy 12 39
1787 c DVL103 Developmental and Epileptic Encephalopathy 80 39
1788 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 39
1789 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 38
1790 c DVL073 Developmental and Epileptic Encephalopathy 48 38
1791 CMB014 Combined Oxidative Phosphorylation Deficiency 3 38
1792 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
1793 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 38
1794 ASP024 Asparagine Synthetase Deficiency 38
1795 c DVL109 Developmental and Epileptic Encephalopathy 87 38
1796 c DVL060 Developmental and Epileptic Encephalopathy 50 38
1797 c DVL053 Developmental and Epileptic Encephalopathy 27 38
1798 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 38
1799 c DVL043 Developmental and Epileptic Encephalopathy 15 38
1800 c HRM011 Hermansky-Pudlak Syndrome 8 38
1801 c DVL055 Developmental and Epileptic Encephalopathy 29 37
1802 APL032 Apolipoprotein a-Iv Associated Amyloidosis 37
1803 PNT006 Pentosuria 37
1804 GLY099 Glycogen Storage Disease Ixa1 37
1805 CNG016 Congenital Intrinsic Factor Deficiency 37
1806 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 37
1807 c DVL050 Developmental and Epileptic Encephalopathy 24 37
1808 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 36
1809 c DVL078 Developmental and Epileptic Encephalopathy 54 36
1810 BCH004 Bachmann-Bupp Syndrome 36
1811 c DVL079 Developmental and Epileptic Encephalopathy 55 36
1812 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 36
1813 c DVL069 Developmental and Epileptic Encephalopathy 44 36
1814 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
1815 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 36
1816 c DVL097 Developmental and Epileptic Encephalopathy 73 36
1817 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 36
1818 c PSD080 Pseudohypoaldosteronism Type 1 36
1819 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 36
1820 c PRX060 Peroxisome Biogenesis Disorder 5a 36
1821 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 36
1822 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 36
1823 GLY058 Glycogen Storage Disease 0, Liver 35
1824 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 35
1825 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
1826 LRS010 Larsen-Like Syndrome B3gat3 Type 35
1827 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 35
1828 c EPL207 Epilepsy, Progressive Myoclonic, 1b 34
1829 SZR028 Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 34
1830 c DVL054 Developmental and Epileptic Encephalopathy 28 34
1831 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 34
1832 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 34
1833 c EPL134 Epilepsy, Progressive Myoclonic 7 34
1834 c DVL059 Developmental and Epileptic Encephalopathy 33 34
1835 c DVL090 Developmental and Epileptic Encephalopathy 66 34
1836 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 34
1837 c DVL057 Developmental and Epileptic Encephalopathy 31 34
1838 c PRX057 Peroxisome Biogenesis Disorder 4a 34
1839 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
1840 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 33
1841 c DVL089 Developmental and Epileptic Encephalopathy 65 33
1842 PYR025 Pyruvate Dehydrogenase E2 Deficiency 33
1843 c HYP864 Hypoparathyroidism, Familial Isolated, 1 33
1844 OXG001 Oxoglutarate Dehydrogenase Deficiency 33
1845 CMB071 Combined Oxidative Phosphorylation Deficiency 27 33
1846 c DVL084 Developmental and Epileptic Encephalopathy 60 33
1847 c PRX046 Peroxisome Biogenesis Disorder 7a 32
1848 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 32
1849 c HYP839 Hyperlipidemia, Familial Combined, 1 32
1850 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 32
1851 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 32
1852 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 32
1853 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1854 c EPL009 Epilepsy Progressive Myoclonic Type 3 32
1855 c DVL046 Developmental and Epileptic Encephalopathy 18 32
1856 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31
1857 c DVL129 Developmental and Epileptic Encephalopathy 25 31
1858 c FML355 Familial Intrahepatic Cholestasis 31
1859 c SPS212 Spastic Ataxia 5, Autosomal Recessive 31
1860 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 31
1861 c DVL119 Developmental and Epileptic Encephalopathy 6b 31
1862 PNC048 Pancreatic Lipase Deficiency 31
1863 CRT066 Cortisone Reductase Deficiency 2 31
1864 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
1865 c EPL188 Epilepsy, Progressive Myoclonic, 10 31
1866 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 31
1867 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 31
1868 c DVL114 Developmental and Epileptic Encephalopathy 91 31
1869 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 31
1870 c GLY023 Glycogen Storage Disease Type 0 30
1871 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
1872 LGH013 Leigh Syndrome with Cardiomyopathy 30
1873 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 30
1874 MYP149 Myopathy, Mitochondrial, and Ataxia 30
1875 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 30
1876 c DVL063 Developmental and Epileptic Encephalopathy 37 30
1877 c DVL107 Developmental and Epileptic Encephalopathy 84 30
1878 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29
1879 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 29
1880 c GLY059 Glycogen Storage Disease Xiii 29
1881 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
1882 c EPL154 Epilepsy, Progressive Myoclonic, 9 28
1883 c DVL080 Developmental and Epileptic Encephalopathy 56 28
1884 c DVL058 Developmental and Epileptic Encephalopathy 32 28
1885 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1886 c DVL071 Developmental and Epileptic Encephalopathy 46 28
1887 c MYC086 Myoclonic Epilepsy, Juvenile 4 28
1888 c DVL112 Developmental and Epileptic Encephalopathy 89 28
1889 c MYC068 Myoclonic Epilepsy of Infancy 27
1890 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 27
1891 c PSD068 Pseudohypoaldosteronism, Type Iic 27
1892 c DVL066 Developmental and Epileptic Encephalopathy 41 27
1893 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 27
1894 c DVL094 Developmental and Epileptic Encephalopathy 70 27
1895 c DVL093 Developmental and Epileptic Encephalopathy 69 27
1896 c DVL120 Developmental and Epileptic Encephalopathy 95 27
1897 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 27
1898 c DVL086 Developmental and Epileptic Encephalopathy 62 27
1899 c DVL088 Developmental and Epileptic Encephalopathy 64 27
1900 c DVL074 Developmental and Epileptic Encephalopathy 49 27
1901 c LCT011 Lactose Intolerance, Adult Type 27
1902 c DVL116 Developmental and Epileptic Encephalopathy 93 27
1903 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 27
1904 c DVL047 Developmental and Epileptic Encephalopathy 19 27
1905 c DVL101 Developmental and Epileptic Encephalopathy 78 27
1906 c DVL092 Developmental and Epileptic Encephalopathy 68 26
1907 c PSD094 Pseudohypoaldosteronism, Type Iib 26
1908 c HRM023 Hermansky-Pudlak Syndrome 11 26
1909 c DVL091 Developmental and Epileptic Encephalopathy 67 26
1910 c DVL083 Developmental and Epileptic Encephalopathy 59 26
1911 c DVL075 Developmental and Epileptic Encephalopathy 51 26
1912 c DVL104 Developmental and Epileptic Encephalopathy 81 26
1913 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 26
1914 MN1002 Man1b1-Cdg 26
1915 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
1916 c DVL115 Developmental and Epileptic Encephalopathy 92 26
1917 CRT065 Cortisone Reductase Deficiency 1 26
1918 GLY094 Glycine Encephalopathy with Normal Serum Glycine 26
1919 c DVL127 Developmental and Epileptic Encephalopathy 98 26
1920 c DVL128 Developmental and Epileptic Encephalopathy 99 26
1921 c HRM020 Hermansky-Pudlak Syndrome 10 26
1922 c DVL070 Developmental and Epileptic Encephalopathy 45 26
1923 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 26
1924 c OCL081 Oculocutaneous Albinism, Type Viii 26
1925 c DVL081 Developmental and Epileptic Encephalopathy 57 25
1926 SDH011 Sedoheptulokinase Deficiency 25
1927 CMB084 Combined Oxidative Phosphorylation Deficiency 34 25
1928 c DVL106 Developmental and Epileptic Encephalopathy 83 25
1929 c DVL102 Developmental and Epileptic Encephalopathy 79 25
1930 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
1931 c DVL032 Developmental and Epileptic Encephalopathy 90 25
1932 c DVL131 Developmental and Epileptic Encephalopathy 100 25
1933 c DVL105 Developmental and Epileptic Encephalopathy 82 25
1934 c DVL085 Developmental and Epileptic Encephalopathy 61 25
1935 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 24
1936 IMM247 Immunoglobulin Heavy Chain Amyloidosis 24
1937 c DVL087 Developmental and Epileptic Encephalopathy 63 24
1938 HST007 Histidine Metabolism Disease 24
1939 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 24
1940 c DVL110 Developmental and Epileptic Encephalopathy 88 24
1941 c DVL095 Developmental and Epileptic Encephalopathy 71 24
1942 c DVL065 Developmental and Epileptic Encephalopathy 40 24
1943 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 24
1944 c DVL096 Developmental and Epileptic Encephalopathy 72 24
1945 ZNC006 Zinc, Elevated Plasma 24
1946 BLD065 Blue Diaper Syndrome 24
1947 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
1948 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 23
1949 c EPL254 Epilepsy, Progressive Myoclonic, 11 23
1950 c DVL082 Developmental and Epileptic Encephalopathy 58 23
1951 c HYP867 Hypoparathyroidism, Familial Isolated, 2 23
1952 c CHL191 Cholestasis, Progressive Familial Intrahepatic, 10 23
1953 c MYC085 Myoclonic Epilepsy, Juvenile 3 23
1954 c CHR464 Chronic Intestinal Failure 23
1955 c DVL132 Developmental and Epileptic Encephalopathy 101 22
1956 c MSC202 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 22
1957 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1958 c TRN053 Transient Pseudohypoaldosteronism 22
1959 c CHL188 Cholestasis, Progressive Familial Intrahepatic, 8 22
1960 c DVL124 Developmental and Epileptic Encephalopathy 97 22
1961 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1962 c EPL210 Epilepsy, Progressive Myoclonic, 6 22
1963 c DVL121 Developmental and Epileptic Encephalopathy 96 22
1964 BRN112 Brain Dopamine-Serotonin Vesicular Transport Disease 22
1965 c DVL134 Developmental and Epileptic Encephalopathy 102 22
1966 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1967 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
1968 c CHL190 Cholestasis, Progressive Familial Intrahepatic, 9 21
1969 c DVL135 Developmental and Epileptic Encephalopathy 103 21
1970 c DVL141 Developmental and Epileptic Encephalopathy 106 21
1971 c DVL108 Developmental and Epileptic Encephalopathy 86 21
1972 DSR055 Disorder of Galactose Metabolism 20
1973 c DVL136 Developmental and Epileptic Encephalopathy 104 20
1974 c EPL257 Epilepsy, Progressive Myoclonic, 12 20
1975 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
1976 CPP001 Copper Deficiency, Familial Benign 20
1977 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 20
1978 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 20
1979 c DVL142 Developmental and Epileptic Encephalopathy 107 19
1980 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 19
1981 c CHL186 Cholestasis, Progressive Familial Intrahepatic, 6 19
1982 HRM027 Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency 19
1983 c CHL193 Cholestasis, Progressive Familial Intrahepatic, 12 18
1984 DSR036 Disorder of Mineral Absorption and Transport 18
1985 HRM026 Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency 18
1986 P NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
1987 HRM025 Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency 18
1988 c RNL117 Renal Tubular Acidosis Iii 17
1989 MTC221 Mitochondrial Complex Iv Deficiency, Nuclear Type 14 17
1990 c PLL014 Pellagra-Like Syndrome 17
1991 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 17
1992 NRM021 Neurometabolic Disorder Due to Serine Deficiency 16
1993 P PRM375 Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 16
1994 c CHL192 Cholestasis, Progressive Familial Intrahepatic, 11 16
1995 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 16
1996 c FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 15
1997 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 15
1998 c EPL186 Epilepsy, Juvenile Myoclonic 9 15
1999 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
2000 c HYP842 Hyperlipidemia, Familial Combined, 2 14
2001 c DVL148 Developmental and Epileptic Encephalopathy 108 13
2002 c PRM152 Primary Renal Tubular Acidosis 12
2003 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
2004 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
2005 c GRN068 Grin2d-Related Developmental and Epileptic Encephalopathy 11
2006 c DVL151 Developmental and Epileptic Encephalopathy 110 11
2007 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
2008 c SCN047 Secondary Pulmonary Hemosiderosis 10
2009 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 10
2010 c DVL150 Developmental and Epileptic Encephalopathy 109 10
2011 c RRN023 Rare Intestinal Disease 10
2012 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 10
2013 PYR043 Pyruvate Metabolism Disorder 9
2014 c ISC021 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 9
2015 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 8
2016 P TTL001 Total Internal Ophthalmoplegia 8
2017 DSR020 Disorder of Ornithine Metabolism 7
2018 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
2019 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 6
2020 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
2021 DSR068 Disorder of Peptide Metabolism 5
2022 DSR035 Disorder of Bilirubin Metabolism and Excretion 5
2023 c INT359 Intestinal Disease Due to Fat Malabsorption 4
2024 PRM377 Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome 4
2025 DSR016 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement 4
2026 DSR080 Disorder of Cobalamin Metabolism and Transport 4
2027 c INT360 Intestinal Disease Due to Vitamin Absorption Anomaly 3
2028 c CNG604 Congenital Intestinal Disease Due to an Enzymatic Defect 3
2029 CYS001 Cystic Fibrosis 78
2030 P HYP724 Hyperlipoproteinemia, Type Iii 72
2031 ALP103 Alpha-1-Antitrypsin Deficiency 70
2032 PPL049 Papillon-Lefevre Syndrome 70
2033 LYS012 Lysosomal Acid Lipase Deficiency 69
2034 P HYP086 Hypothyroidism 68
2035 P GLC113 Galactosemia I 66
2036 c MCL013 Mucolipidosis Iv 66
2037 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 66
2038 P HYP370 Hypokalemic Periodic Paralysis, Type 1 65
2039 LPD008 Lipid Metabolism Disorder 65
2040 RFS006 Refsum Disease, Classic 64
2041 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64
2042 c CNG006 Congenital Hypothyroidism 64
2043 MGL001 Megaloblastic Anemia 64
2044 KRN002 Kearns-Sayre Syndrome 63
2045 BTN003 Biotinidase Deficiency 63
2046 FCS002 Fucosidosis 63
2047 WLK001 Walker-Warburg Syndrome 61
2048 ALK013 Alkaptonuria 61
2049 P HYP097 Hyperekplexia 61
2050 GYR004 Gyrate Atrophy of Choroid and Retina 60
2051 P CTR002 Cataract 60
2052 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 60
2053 DBT084 Diabetes Mellitus, Ketosis-Prone 60
2054 DBN001 Dubin-Johnson Syndrome 60
2055 P GLY013 Glycogen Storage Disease 59
2056 OCC006 Occipital Horn Syndrome 59
2057 FRB001 Farber Lipogranulomatosis 59
2058 c HYP843 Hypoalphalipoproteinemia, Primary, 2 59
2059 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
2060 RNL051 Renal Cysts and Diabetes Syndrome 58
2061 P MLG056 Malignant Hyperthermia 58
2062 c CRB193 Cerebral Amyloid Angiopathy, App-Related 57
2063 ISV001 Isovaleric Acidemia 57
2064 c PSD066 Pseudohypoparathyroidism, Type Ib 56
2065 c GLL024 Gallbladder Disease 1 56
2066 PRP082 Porphyria, Congenital Erythropoietic 56
2067 HYP003 Hypermethioninemia 56
2068 HYP081 Hypolipoproteinemia 56
2069 PRD004 Prediabetes Syndrome 56
2070 PLC005 Placental Insufficiency 55
2071 c GLC111 Galactosemia Ii 55
2072 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 55
2073 SRM004 Serum Amyloid a Amyloidosis 54
2074 P GLL020 Gallbladder Disease 54
2075 P RHZ001 Rhizomelic Chondrodysplasia Punctata 54
2076 c OPT053 Optic Atrophy 1 54
2077 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 54
2078 MLT135 Multiple Sulfatase Deficiency 53
2079 GRC001 Gracile Syndrome 53
2080 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
2081 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
2082 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 52
2083 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 52
2084 TMT002 Temtamy Preaxial Brachydactyly Syndrome 51
2085 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 51
2086 GLT007 Glutathione Synthetase Deficiency 51
2087 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 51
2088 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 50
2089 ATR002 Atransferrinemia 50
2090 SLF014 Sulfite Oxidase Deficiency, Isolated 50
2091 c OPT068 Optic Atrophy 3, Autosomal Dominant 50
2092 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 50
2093 GCH018 Gaucher Disease, Perinatal Lethal 50
2094 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 50
2095 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
2096 c HYP699 Hyperekplexia 1 50
2097 c GLY097 Glycogen Storage Disease Ixb 49
2098 c PNT037 Pontocerebellar Hypoplasia, Type 3 49
2099 GRD009 Gordon Holmes Syndrome 49
2100 c ALB019 Albinism, Oculocutaneous, Type Iv 49
2101 HWK001 Hawkinsinuria 48
2102 NNT017 Neonatal Adrenoleukodystrophy 48
2103 OLV001 Olivopontocerebellar Atrophy 48
2104 FSH001 Fish-Eye Disease 48
2105 c PNT036 Pontocerebellar Hypoplasia, Type 6 48
2106 P HYP534 Hypomagnesemia 3, Renal 48
2107 GLC022 Glucose/galactose Malabsorption 47
2108 P HYP769 Hyperlysinemia, Type I 47
2109 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
2110 c CTR103 Cataract 4, Multiple Types 47
2111 c CTR098 Cataract 1, Multiple Types 47
2112 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
2113 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 47
2114 c MLG147 Malignant Hyperthermia 1 47
2115 P PNT019 Pontocerebellar Hypoplasia 46
2116 ORG002 Organic Acidemia 46
2117 NGL007 Ngly1-Deficiency 46
2118 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
2119 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 46
2120 CRB025 Carbohydrate Metabolic Disorder 46
2121 P SPS008 Spastic Ataxia 45
2122 P BRB001 Beriberi 45
2123 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
2124 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 45
2125 c HYP716 Hypermanganesemia with Dystonia 1 45
2126 DLY010 Dialysis-Related Amyloidosis 44
2127 c CTR182 Cataract 23, Multiple Types 44
2128 P KRN004 Kernicterus 44
2129 c CTR096 Cataract 6, Multiple Types 44
2130 DHY011 Dihydropyrimidinase Deficiency 44
2131 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
2132 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
2133 c PNT032 Pontocerebellar Hypoplasia, Type 9 44
2134 c FML036 Familial Periodic Paralysis 43
2135 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 43
2136 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
2137 c CTR130 Cataract 9, Multiple Types 43
2138 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
2139 P PRD021 Periodic Paralysis 43
2140 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 43
2141 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 42
2142 HYP187 Hypertryptophanemia 42
2143 c CRD257 Ceroid Lipofuscinosis, Neuronal, 4 42
2144 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 42
2145 c ALB024 Albinism, Ocular, Type I 41
2146 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
2147 HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 41
2148 ALP112 Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria 41
2149 PLY158 Polyglucosan Body Neuropathy, Adult Form 41
2150 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 41
2151 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 41
2152 c HYP713 Hypermanganesemia with Dystonia 2 41
2153 GLT014 Glutathionuria 41
2154 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 41
2155 c OPT064 Optic Atrophy 11 41
2156 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 41
2157 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 41
2158 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
2159 LTH002 Lathosterolosis 40
2160 c CTR118 Cataract 14, Multiple Types 40
2161 P ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 40
2162 c HYP519 Hyperekplexia 3 39
2163 c CTR125 Cataract 7 39
2164 c CTR132 Cataract 3, Multiple Types 39
2165 c CTR115 Cataract 16, Multiple Types 39
2166 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
2167 c HYP510 Hyperekplexia 2 39
2168 c CTR170 Cataract 30, Multiple Types 39
2169 c CTR174 Cataract 40 38
2170 c CTR113 Cataract 11, Multiple Types 38
2171 c OPT065 Optic Atrophy 9 38
2172 CMB052 Combined Oxidative Phosphorylation Deficiency 20 38
2173 c GLY057 Glycogen Storage Disease X 38
2174 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
2175 c HYP606 Hypokalemic Periodic Paralysis, Type 2 38
2176 c CTR145 Cataract 44 37
2177 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
2178 c CNG002 Congenital Bile Acid Synthesis Defect 37
2179 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
2180 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 36
2181 c CTR129 Cataract 31, Multiple Types 36
2182 HMM002 Haim-Munk Syndrome 36
2183 c CTR181 Cataract 18 35
2184 RBS005 Ribose 5-Phosphate Isomerase Deficiency 35
2185 CMB048 Combined Oxidative Phosphorylation Deficiency 15 35
2186 P DRR005 Diarrhea 4, Malabsorptive, Congenital 35
2187 HPT025 Hepatic Lipase Deficiency 35
2188 CMB076 Combined Oxidative Phosphorylation Deficiency 31 35
2189 c PNT053 Pontocerebellar Hypoplasia, Type 13 35
2190 ART173 Arthrogryposis, Impaired Intellectual Development, and Seizures 35
2191 c CTR122 Cataract 5, Multiple Types 34
2192 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
2193 c CTR183 Cataract 38 34
2194 AMN007 Aminoacylase 1 Deficiency 34
2195 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 34
2196 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
2197 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
2198 c CTR095 Cataract 8, Multiple Types 34
2199 TTR005 Tetrahydrobiopterin Deficiency 34
2200 c OPT024 Optic Atrophy 5 33
2201 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 33
2202 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 33
2203 c PSD093 Pseudohypoaldosteronism, Type Iid 33
2204 FLC001 Folic Acid Deficiency Anemia 33
2205 c CTR102 Cataract 2, Multiple Types 33
2206 c CTR131 Cataract 17, Multiple Types 32
2207 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 32
2208 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 32
2209 MTC037 Mitochondrial Phosphate Carrier Deficiency 32
2210 c CTR187 Cataract 48 32
2211 c CTR111 Cataract 36 32
2212 c CTR185 Cataract 30 32
2213 c RNL128 Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia 31
2214 c CTR124 Cataract 10, Multiple Types 31
2215 LPP002 Lipoprotein Glomerulopathy 31
2216 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
2217 c OPT023 Optic Atrophy 2 30
2218 c CTR175 Cataract 24 30
2219 c MLG151 Malignant Hyperthermia 5 30
2220 c SPS072 Spastic Ataxia 1, Autosomal Dominant 30
2221 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 30
2222 c SPS142 Spastic Ataxia 2, Autosomal Recessive 30
2223 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 30
2224 c CTR119 Cataract 32, Multiple Types 30
2225 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 30
2226 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
2227 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 29
2228 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 29
2229 PLY114 Polyglucosan Body Myopathy 2 29
2230 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
2231 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 29
2232 c SPS170 Spastic Ataxia 2 29
2233 c CTR141 Cataract 21, Multiple Types 29
2234 c HYP825 Hyperekplexia 4 29
2235 c DRR021 Diarrhea 11, Malabsorptive, Congenital 28
2236 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28
2237 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
2238 P HYP821 Hypermanganesemia with Dystonia 27
2239 c SPS208 Spastic Ataxia 4, Autosomal Recessive 27
2240 c CTR180 Cataract 22, Multiple Types 27
2241 c SPS171 Spastic Ataxia 5 27
2242 c GLL027 Gallbladder Disease 4 26
2243 c HYP819 Hyperlipoproteinemia, Type Id 26
2244 c CTR116 Cataract 15, Multiple Types 26
2245 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
2246 c MLG148 Malignant Hyperthermia 2 26
2247 c CNT101 Central Congenital Hypothyroidism 26
2248 c OPT025 Optic Atrophy 6 26
2249 c CTR105 Cataract 12, Multiple Types 26
2250 c CTR166 Cataract 33, Multiple Types 26
2251 c CTR121 Cataract 25 26
2252 c CTR097 Cataract 34, Multiple Types 26
2253 c OPT080 Optic Atrophy 12 25
2254 c OPT060 Optic Atrophy 8 25
2255 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
2256 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 24
2257 CMB079 Combined Oxidative Phosphorylation Deficiency 29 24
2258 c CTR169 Cataract 29 24
2259 c CTR165 Cataract 19, Multiple Types 24
2260 c SPS214 Spastic Ataxia 4 24
2261 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
2262 CMB063 Combined Oxidative Phosphorylation Deficiency 25 24
2263 c CTR162 Cataract 47 23
2264 c CTR136 Cataract 41 23
2265 c CTR157 Cataract 28 23
2266 c CTR158 Cataract 37 23
2267 c MLG149 Malignant Hyperthermia 3 23
2268 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 23
2269 NRD063 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 23
2270 BRL013 Baralle-Macken Syndrome 23
2271 INT374 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures 23
2272 LKN027 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 23
2273 c SPS163 Spastic Ataxia 3 22
2274 c CTR184 Cataract 39, Multiple Types 22
2275 c ATS438 Autosomal Recessive Spastic Ataxia 22
2276 c CTR106 Cataract 20, Multiple Types 22
2277 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
2278 c CTR110 Cataract 26, Multiple Types 22
2279 c SPS233 Spastic Ataxia 9, Autosomal Recessive 22
2280 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
2281 LGH017 Leigh Syndrome with Nephrotic Syndrome 21
2282 c CTR160 Cataract 45 21
2283 c PNT058 Pontocerebellar Hypoplasia, Type 1f 21
2284 TMM013 Tmem70 Defect 21
2285 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
2286 c CTR144 Cataract 43 21
2287 c CTR178 Cataract 27 21
2288 c MLG150 Malignant Hyperthermia 4 21
2289 P PRM016 Primary Optic Atrophy 21
2290 c CTR128 Cataract 33 20
2291 c OPT059 Optic Atrophy 4 20
2292 c CTR159 Cataract 35 20
2293 c CTR139 Cataract 42 20
2294 MTC222 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 19
2295 DSR026 Disorder of Tyrosine Metabolism 19
2296 c PRM316 Primary Congenital Hypothyroidism 19
2297 c MLG152 Malignant Hyperthermia 6 19
2298 c CTR190 Cataract 49 18
2299 c SPS229 Spastic Ataxia 8 18
2300 c SPS162 Spastic Ataxia 1 17
2301 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
2302 P DST108 Distal Renal Tubular Acidosis with Hemolytic Anemia 16
2303 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 16
2304 c TRN047 Transient Congenital Hypothyroidism 16
2305 c JVN036 Juvenile Sialidosis Type 2 16
2306 HRN021 Hernández-Aguirre Negrete Syndrome 14
2307 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
2308 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
2309 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 13
2310 c SPR097 Sporadic Hyperekplexia 12
2311 c GLL025 Gallbladder Disease 2 12
2312 c GLL026 Gallbladder Disease 3 12
2313 c RRH009 Rare Hypothyroidism 12
2314 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
2315 c ATS437 Autosomal Dominant Spastic Ataxia 9
2316 HYP887 Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation 9
2317 c KRN003 Kernicterus Due to Isoimmunization 8
2318 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 8
2319 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 7
2320 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
2321 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
2322 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
2323 c SPS172 Spastic Ataxia 7 5
2324 c CTR008 Cataract Congenital Autosomal Dominant 5
2325 c RRD027 Rare Disease with Malignant Hyperthermia 5
2326 c RRD014 Rare Adult Hypothyroidism 4
2327 DVL133 Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome 4
2328 MTB013 Metabolic Disease Involving Other Neurotransmitter Deficiency 3
2329 ADR007 Adrenoleukodystrophy 75
2330 WLS001 Wilson Disease 72
2331 c NMN015 Niemann-Pick Disease, Type C1 71
2332 c GCH015 Gaucher Disease, Type I 70
2333 c PSD108 Pseudohypoparathyroidism, Type Ia 67
2334 LWC002 Lowe Oculocerebrorenal Syndrome 67
2335 MVL001 Mevalonic Aciduria 66
2336 P CRN037 Craniosynostosis 66
2337 GTL001 Gitelman Syndrome 66
2338 c CNG012 Congenital Generalized Lipodystrophy 65
2339 P CHR071 Charcot-Marie-Tooth Disease 64
2340 ART002 Arts Syndrome 64
2341 HYP052 Hyperkalemic Periodic Paralysis 63
2342 c NMN016 Niemann-Pick Disease, Type B 62
2343 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 62
2344 CHN055 Chanarin-Dorfman Syndrome 62
2345 P HYP035 Hypophosphatasia 62
2346 PRN001 Purine Nucleoside Phosphorylase Deficiency 60
2347 P PRM002 Primary Hyperoxaluria 60
2348 P PRP029 Porphyria 60
2349 c HYP293 Hypophosphatasia, Adult 60
2350 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
2351 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59
2352 CYS010 Cystinosis 59
2353 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 59
2354 NNK001 Nonaka Myopathy 59
2355 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 59
2356 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 58
2357 CPR004 Coproporphyria, Hereditary 58
2358 RBF001 Riboflavin Deficiency 58
2359 P CTS001 Cutis Laxa 57
2360 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
2361 CRB151 Cerebral Creatine Deficiency Syndrome 1 56
2362 ALP077 Alpha-Methylacetoacetic Aciduria 55
2363 ADN024 Adenine Phosphoribosyltransferase Deficiency 55
2364 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 54
2365 c ALB009 Albinism, Oculocutaneous, Type Ia 54
2366 c CRN278 Craniosynostosis 1 53
2367 c HYP292 Hypophosphatasia, Infantile 53
2368 c TYR013 Tyrosinemia, Type Ii 53
2369 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
2370 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 52
2371 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 51
2372 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 51
2373 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 51
2374 WRN002 Wernicke-Korsakoff Syndrome 51
2375 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 50
2376 CLC001 Calciphylaxis 50
2377 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 50
2378 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 50
2379 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
2380 P TRM004 Trimethylaminuria 49
2381 HMC001 Homocarnosinosis 49
2382 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 49
2383 PHS021 Phosphoglycerate Dehydrogenase Deficiency 49
2384 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 49
2385 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 49
2386 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 49
2387 KNZ001 Kanzaki Disease 48
2388 CMB026 Combined Oxidative Phosphorylation Deficiency 12 48
2389 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
2390 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 47
2391 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47
2392 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
2393 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
2394 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 46
2395 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
2396 c XLN229 X-Linked Chondrodysplasia Punctata 2 46
2397 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 46
2398 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
2399 P ACQ022 Acquired Generalized Lipodystrophy 46
2400 MTH074 Methionine Adenosyltransferase I/iii Deficiency 46
2401 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 46
2402 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 45
2403 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 45
2404 GLT018 Glut1 Deficiency Syndrome 1 45
2405 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
2406 P THP004 Thiopurines, Poor Metabolism of, 1 45
2407 FRC005 Fructosuria, Essential 45
2408 ACT209 Acatalasemia 45
2409 DBT090 Diabetes and Deafness, Maternally Inherited 45
2410 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 43
2411 BJR001 Bjornstad Syndrome 43
2412 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 43
2413 c CRD258 Ceroid Lipofuscinosis, Neuronal, 6b 43
2414 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 42
2415 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
2416 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 42
2417 LPS020 Lipase Deficiency, Combined 42
2418 DSM002 Desmosterolosis 42
2419 CMB054 Combined Oxidative Phosphorylation Deficiency 23 41
2420 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 41
2421 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
2422 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 40
2423 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 40
2424 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 39
2425 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
2426 c CRN277 Craniosynostosis 2 38
2427 GLT011 Glutamine Deficiency, Congenital 38
2428 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
2429 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 37
2430 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 37
2431 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 37
2432 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 37
2433 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 37
2434 c XLN227 X-Linked Chondrodysplasia Punctata 1 37
2435 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 37
2436 24D001 2,4-Dienoyl-Coa Reductase Deficiency 37
2437 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 36
2438 P MSC002 Muscular Dystrophy-Dystroglycanopathy 36
2439 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 36
2440 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 36
2441 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 35
2442 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 35
2443 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 35
2444 c ATP003 Atp6v0a2-Related Cutis Laxa 35
2445 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
2446 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 34
2447 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 34
2448 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 34
2449 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 33
2450 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 33
2451 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 33
2452 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
2453 URC006 Urocanase Deficiency 33
2454 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
2455 c CRN281 Craniosynostosis 7 32
2456 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 32
2457 MTC079 Mitochondrial Pyruvate Carrier Deficiency 32
2458 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 32
2459 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 31
2460 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
2461 XLN250 X-Linked Intellectual Disability-Short Stature-Overweight Syndrome 31
2462 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 30