Metabolic Diseases Category (2224 diseases)


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

# Family MCID Name MIFTS
1 P BDY004 Body Mass Index Quantitative Trait Locus 11 72
2 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
3 c BDY013 Body Mass Index Quantitative Trait Locus 5 12
4 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
5 c BDY008 Body Mass Index Quantitative Trait Locus 2 11
6 c BDY014 Body Mass Index Quantitative Trait Locus 6 11
7 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
8 c BDY018 Body Mass Index Quantitative Trait Locus 15 10
9 ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 47
10 c INH020 Inherited Metabolic Disorder 54
11 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 61
12 CRB025 Carbohydrate Metabolic Disorder 48
13 LPT014 Leptin Deficiency or Dysfunction 70
14 HYP835 Hypothalamic Obesity 43
15 LPT006 Leptin Receptor Deficiency 41
16 TNG012 Tango2-Related Metabolic Encephalopathy and Arrhythmias 16
17 NTR005 Nutritional Deficiency Disease 59
18 LPD008 Lipid Metabolism Disorder 65
19 MMS001 Momo Syndrome 29
20 P DRG021 Drug Metabolism, Poor, Cyp2c19-Related 29
21 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 27
22 INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 16
23 AMN002 Amino Acid Metabolic Disorder 49
24 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 26
25 CHN016 Cohen Syndrome 53
26 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 36
27 HYD021 Hydrocephalus Obesity Hypogonadism 16
28 P THP004 Thiopurines, Poor Metabolism of, 1 38
29 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 36
30 CNG376 Congenital Leptin Deficiency 26
31 c BDY020 Body Mass Index Quantitative Trait Locus 19 44
32 ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 15
33 XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 8
34 URC002 Urea Cycle Disorder 49
35 c BDY019 Body Mass Index Quantitative Trait Locus 18 43
36 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
37 c BDY006 Body Mass Index Quantitative Trait Locus 8 41
38 c BDY012 Body Mass Index Quantitative Trait Locus 7 41
39 PHS001 Phosphorus Metabolism Disease 40
40 c BDY005 Body Mass Index Quantitative Trait Locus 9 35
41 c BDY015 Body Mass Index Quantitative Trait Locus 12 32
42 c BDY010 Body Mass Index Quantitative Trait Locus 4 32
43 INB001 Inborn Amino Acid Metabolism Disorder 16
44 P THM010 Thiamine Metabolism Dysfunction Syndrome 2 44
45 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 33
46 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 32
47 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 28
48 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
49 MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 22
50 c THM014 Thiamine Metabolism Dysfunction Syndrome 4 22
51 MTL002 Metal Metabolism Disorder 40
52 MNR003 Mineral Metabolism Disease 39
53 SRF006 Surfactant Dysfunction 37
54 PRP098 Proprotein Convertase 1/3 Deficiency 32
55 THY064 Thyroid Hormone Metabolism, Abnormal 21
56 PYR035 Pyrimidine Metabolic Disorder 20
57 MRB006 Morbid Obesity and Spermatogenic Failure 19
58 IRN002 Iron Metabolism Disease 60
59 GLC008 Glucose Metabolism Disease 53
60 CHP002 Chops Syndrome 38
61 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
62 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62
63 MTB004 Metabolic Acidosis 50
64 OBS037 Obesity-Hypoventilation Syndrome 50
65 ORG002 Organic Acidemia 40
66 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 38
67 HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 28
68 RHH001 Rohhad 28
69 HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 24
70 c THM013 Thiamine Metabolism Dysfunction Syndrome 5 23
71 AYZ001 Ayazi Syndrome 9
72 RCK004 Rickets 66
73 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64
74 CMR002 Coumarin Resistance 52
75 MTC005 Mitochondrial Metabolism Disease 47
76 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 46
77 MRS001 Marasmus 43
78 MTH021 Methylmalonic Acidemia with Homocystinuria 40
79 STR018 Steroid Inherited Metabolic Disorder 37
80 GRC001 Gracile Syndrome 33
81 MCR257 Microcephaly, Amish Type 27
82 PRN024 Purine-Pyrimidine Metabolic Disorder 23
83 HST007 Histidine Metabolism Disease 23
84 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 21
85 P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 20
86 RTN173 Retinal Dystrophy and Obesity 18
87 OBS050 Obesity Due to Congenital Leptin Deficiency 18
88 WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 14
89 CHL110 Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency 11
90 P PRD006 Prader-Willi Syndrome 61
91 FRC001 Fructose-1,6-Bisphosphatase Deficiency 45
92 CLP006 Clopidogrel Resistance 45
93 IRN004 Iron-Refractory Iron Deficiency Anemia 42
94 c BDY011 Body Mass Index Quantitative Trait Locus 10 41
95 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
96 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
97 DSR002 Disorders of Intracellular Cobalamin Metabolism 16
98 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
99 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
100 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
101 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
102 PRL046 Prolactin Deficiency with Obesity and Enlarged Testes 9
103 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
104 c PRD024 Prader-Willi Syndrome Due to Translocation 6
105 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
106 OVR113 Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis 5
107 GNT051 Genetic Non-Syndromic Obesity 4
108 CRD029 Cardiomyopathy Hypogonadism Metabolic Anomalies 2
109 GLC006 Galactosemia 65
110 LYS002 Lysosomal Storage Disease 56
111 BLR008 Bilirubin Metabolic Disorder 54
112 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 50
113 TTR005 Tetrahydrobiopterin Deficiency 48
114 OBS015 Obesity, Hyperphagia, and Developmental Delay 28
115 3HY001 3-Hydroxyisobutyric Aciduria 24
116 DVL020 Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features 21
117 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 18
118 DBT084 Diabetes Mellitus, Ketosis-Prone 60
119 c BRD010 Bardet-Biedl Syndrome 1 59
120 ALS001 Alstrom Syndrome 57
121 APP015 Apparent Mineralocorticoid Excess 55
122 BTN003 Biotinidase Deficiency 54
123 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 52
124 HLC001 Holocarboxylase Synthetase Deficiency 52
125 ISV001 Isovaleric Acidemia 50
126 ALP077 Alpha-Methylacetoacetic Aciduria 45
127 c BRD035 Bardet-Biedl Syndrome 15 42
128 P CRB059 Cerebellar Degeneration 40
129 P ACQ009 Acquired Metabolic Disease 35
130 c BDY021 Body Mass Index Quantitative Trait Locus 20 30
131 DGL002 D-Glyceric Aciduria 29
132 HYP364 Hyperostosis Frontalis Interna 29
133 PLS010 Plasma Protein Metabolism Disease 27
134 c PRM015 Primary Cerebellar Degeneration 27
135 P PNT006 Pentosuria 23
136 c SBC039 Subacute Cerebellar Degeneration 22
137 c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 22
138 BRN135 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 20
139 VTM003 Vitamin Metabolic Disorder 20
140 c ESS007 Essential Pentosuria 18
141 THP001 Thiopurine S Methyltranferase Deficiency 17
142 DPL003 Diploid-Triploid Mosaicism 15
143 c THP005 Thiopurines, Poor Metabolism of, 2 15
144 MTB009 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 12
145 MN1002 Man1b1-Cdg 10
146 c DRG023 Drug Metabolism, Altered, Ces1-Related 10
147 P DRG022 Drug Metabolism, Altered, Cyp2c8-Related 9
148 c GLY008 Glycogen Storage Disease Ii 66
149 P BRD002 Bardet-Biedl Syndrome 63
150 c BRD014 Bardet-Biedl Syndrome 2 60
151 c GLY005 Glycogen Storage Disease Vi 57
152 c GLY004 Glycogen Storage Disease V 56
153 P LDD007 Liddle Syndrome 1 55
154 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54
155 OVR063 Overnutrition 53
156 c GLY011 Glycogen Storage Disease Vii 52
157 P MGL001 Megaloblastic Anemia 51
158 c GLY060 Glycogen Storage Disease Ia 50
159 c BRD013 Bardet-Biedl Syndrome 12 48
160 c BRD016 Bardet-Biedl Syndrome 4 47
161 GLY014 Glycerol Kinase Deficiency 47
162 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
163 SLR001 Sialuria 44
164 c BRD015 Bardet-Biedl Syndrome 3 43
165 MLT018 Multiple Carboxylase Deficiency 43
166 IRN008 Iron Overload in Africa 42
167 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 42
168 c GLY023 Glycogen Storage Disease Type 0 41
169 ACT149 Acetaminophen Metabolism 41
170 MTH078 Methylmalonic Aciduria, Cblb Type 40
171 c GLY044 Glycogen Storage Disease Ixc 40
172 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 39
173 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 38
174 PYR009 Pyridoxine Deficiency Anemia 37
175 c GLY016 Glycogen Storage Disease Ib 37
176 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 35
177 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 34
178 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
179 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 34
180 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 33
181 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 33
182 c GLY057 Glycogen Storage Disease X 33
183 MLN011 Malonyl-Coa Decarboxylase Deficiency 33
184 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
185 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 33
186 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 33
187 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32
188 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 32
189 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 31
190 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 31
191 MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 31
192 HWK001 Hawkinsinuria 30
193 c GLY009 Glycogen Storage Disease Xv 30
194 c GLY017 Glycogen Storage Disease Ic 30
195 FRC005 Fructosuria, Essential 30
196 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 29
197 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29
198 c GLY097 Glycogen Storage Disease Ixb 29
199 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
200 c GLY043 Glycogen Storage Disease Xii 28
201 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
202 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 27
203 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 27
204 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 27
205 c GLY006 Glycogen Storage Disease Viii 27
206 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 26
207 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 26
208 ANT078 Antipyrine Metabolism 25
209 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 25
210 AMN012 Aminoacidopathies 24
211 c GLY059 Glycogen Storage Disease Xiii 24
212 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 23
213 c GLY001 Glycogen Storage Disease Ix 23
214 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 23
215 CLR029 Clark-Baraitser Syndrome 22
216 SCC002 Saccharopinuria 22
217 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 22
218 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 22
219 c DRG020 Drug Metabolism, Poor, Cyp2d6-Related 21
220 MTC079 Mitochondrial Pyruvate Carrier Deficiency 20
221 c GLY093 Glycogen Storage Disease Ixa 19
222 c BMN004 Biemond Syndrome Ii 18
223 ERY030 Erythrocyte Lactate Transporter Defect 18
224 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 17
225 c LDD008 Liddle Syndrome 2 17
226 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 17
227 SHR107 Short Stature-Obesity Syndrome 16
228 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
229 c LDD009 Liddle Syndrome 3 16
230 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15
231 P BMN001 Biemond Syndrome 14
232 MDF004 Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 13
233 CMR005 Camera-Marugo-Cohen Syndrome 12
234 OBS060 Obesity Due to Sim1 Deficiency 11
235 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 11
236 TGL001 Tiglic Acidemia 10
237 ANM041 Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism 7
238 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 7
239 OBS083 Obesity Due to Congenital Leptin Resistance 4
240 CHR069 Chronic Metabolic Polyneuropathy 4
241 HYL006 Hyaluronan Metabolism, Defect in 3
242 c BMN003 Biemond Syndrome Type 1 3
243 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 92
244 CYS001 Cystic Fibrosis 82
245 P PRK057 Parkinson Disease, Late-Onset 76
246 c HMC039 Hemochromatosis, Type 1 74
247 PHN003 Phenylketonuria 74
248 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
249 ADR007 Adrenoleukodystrophy 71
250 FBR012 Fabry Disease 71
251 P DMN001 Diamond-Blackfan Anemia 70
252 P TYS001 Tay-Sachs Disease 69
253 SMT004 Smith-Lemli-Opitz Syndrome 68
254 P KRB001 Krabbe Disease 67
255 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
256 LWC002 Lowe Oculocerebrorenal Syndrome 66
257 c MCP050 Mucopolysaccharidosis, Type Ii 66
258 P GCH001 Gaucher's Disease 66
259 c GCH015 Gaucher Disease, Type I 65
260 c MCL062 Mucolipidosis Ii Alpha/beta 64
261 HYP066 Hyperglycemia 64
262 P AMY004 Amyloidosis 64
263 CRB011 Cerebrotendinous Xanthomatosis 64
264 c CNG411 Congenital Disorder of Glycosylation, Type in 64
265 c MCP049 Mucopolysaccharidosis, Type Vii 64
266 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
267 TNG002 Tangier Disease 63
268 PRP083 Porphyria, Acute Intermittent 63
269 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
270 LSC001 Lesch-Nyhan Syndrome 62
271 SDD001 Sudden Infant Death Syndrome 62
272 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62
273 RFS006 Refsum Disease, Classic 62
274 P GLY013 Glycogen Storage Disease 61
275 P NMN002 Niemann-Pick Disease 61
276 ALP103 Alpha-1-Antitrypsin Deficiency 61
277 P MTR004 Maturity-Onset Diabetes of the Young 61
278 c GCH016 Gaucher Disease, Type Ii 61
279 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
280 P PRP029 Porphyria 60
281 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
282 P ERY058 Erythrocytosis, Familial, 1 60
283 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
284 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
285 LYS012 Lysosomal Acid Lipase Deficiency 60
286 WST001 West Syndrome 59
287 GLC003 Glucose Intolerance 59
288 ARG002 Argininosuccinic Aciduria 59
289 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 59
290 P PRM002 Primary Hyperoxaluria 58
291 c PRT132 Protoporphyria, Erythropoietic, 1 58
292 c NMN016 Niemann-Pick Disease, Type B 58
293 c MCL013 Mucolipidosis Iv 58
294 c PRX045 Peroxisome Biogenesis Disorder 1b 58
295 c CRP023 Carpenter Syndrome 1 58
296 c GCH017 Gaucher Disease, Type Iii 58
297 HYP060 Hyperinsulinism 57
298 CTR172 Citrullinemia, Classic 57
299 PRP082 Porphyria, Congenital Erythropoietic 57
300 PRP032 Porphyria Variegata 57
301 CPR004 Coproporphyria, Hereditary 56
302 c MCL046 Mucolipidosis Iii Alpha/beta 56
303 MTC097 Mitochondrial Complex Iv Deficiency 56
304 CHN055 Chanarin-Dorfman Syndrome 56
305 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 56
306 ASP002 Aspartylglucosaminuria 55
307 P HYP050 Hyperinsulinemic Hypoglycemia 55
308 HYP005 Hypokalemia 55
309 c AMY009 Amyloidosis Aa 55
310 ART002 Arts Syndrome 55
311 HRL003 Hurler Syndrome 55
312 c ANM036 Anemia, Sideroblastic, 1 54
313 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54
314 c CRG004 Crigler-Najjar Syndrome, Type Ii 54
315 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
316 c LBR014 Leber Congenital Amaurosis 4 54
317 MLT135 Multiple Sulfatase Deficiency 54
318 ERL001 Early Myoclonic Encephalopathy 53
319 PRT038 Protein-Energy Malnutrition 53
320 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
321 CLC006 Calcinosis 53
322 XNT003 Xanthomatosis 53
323 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 53
324 P LPM005 Lipomatosis 53
325 P ZLL001 Zellweger Syndrome 53
326 c CNG027 Congenital Hemolytic Anemia 53
327 P LCT001 Lactic Acidosis 52
328 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 52
329 P PRC019 Precocious Puberty 52
330 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
331 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
332 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
333 PRN011 Pernicious Anemia 52
334 HMS001 Hemosiderosis 52
335 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
336 P MTC133 Mitochondrial Myopathy 52
337 c CNT075 Central Precocious Puberty 52
338 GLC012 Galactosialidosis 52
339 P PSD015 Pseudohypoparathyroidism 51
340 KRT002 Keratomalacia 51
341 BRT005 Barth Syndrome 51
342 c BRD012 Bardet-Biedl Syndrome 11 51
343 PRD004 Prediabetes Syndrome 51
344 c SPN293 Spinocerebellar Ataxia 12 51
345 NNT017 Neonatal Adrenoleukodystrophy 51
346 c PRX059 Peroxisome Biogenesis Disorder 1a 50
347 MTC020 Mitochondrial Complex Ii Deficiency 50
348 GLC004 Galactokinase Deficiency 50
349 P NGH001 Night Blindness 50
350 FSH001 Fish-Eye Disease 50
351 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
352 SPH010 Sphingolipidosis 50
353 HYP347 Hypotonia-Cystinuria Syndrome 50
354 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
355 DNN001 Danon Disease 50
356 HYP025 Hyperphosphatemia 49
357 HYP081 Hypolipoproteinemia 49
358 BTY001 Butyrylcholinesterase Deficiency 49
359 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
360 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
361 P NLX004 Neu-Laxova Syndrome 1 49
362 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
363 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
364 HYP088 Hyper-Igd Syndrome 49
365 FRB001 Farber Lipogranulomatosis 49
366 ORT008 Orotic Aciduria 49
367 c GM2006 Gm2 Gangliosidosis 49
368 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 48
369 c BRD044 Bardet-Biedl Syndrome 17 48
370 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 48
371 VTM002 Vitamin B12 Deficiency 48
372 c 3MT015 3-Methylglutaconic Aciduria, Type I 48
373 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
374 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
375 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
376 P TYR004 Tyrosinemia 48
377 c ACT078 Acute Porphyria 48
378 c SPN312 Spinocerebellar Ataxia 14 48
379 SGW002 Segawa Syndrome, Autosomal Recessive 48
380 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 48
381 c HMC010 Hemochromatosis, Type 3 47
382 P NNT009 Neonatal Diabetes Mellitus 47
383 DWR001 Dwarfism 47
384 P HYP058 Hypervitaminosis a 47
385 c HMC035 Hemochromatosis, Type 4 47
386 c ALB019 Albinism, Oculocutaneous, Type Iv 47
387 TRN022 Transcobalamin Ii Deficiency 47
388 c BRD032 Bardet-Biedl Syndrome 14 47
389 P GNG009 Gangliosidosis 47
390 PHS021 Phosphoglycerate Dehydrogenase Deficiency 46
391 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
392 HRT031 Hartnup Disorder 46
393 c TYR013 Tyrosinemia, Type Ii 46
394 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 46
395 PRX001 Peroxisomal Disease 46
396 c SPN100 Spinocerebellar Ataxia 27 46
397 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
398 P PSD003 Pseudohypoaldosteronism 46
399 c 3MT014 3-Methylglutaconic Aciduria, Type V 46
400 c HMC009 Hemochromatosis Type 2 46
401 c ALB015 Albinism, Oculocutaneous, Type V 46
402 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
403 P MCL001 Mucolipidosis 45
404 PRS127 Pearson Marrow-Pancreas Syndrome 45
405 P MNN018 Mannosidosis 45
406 c BRD020 Bardet-Biedl Syndrome 8 45
407 GLC106 Glucocorticoid Resistance, Generalized 45
408 P TRM004 Trimethylaminuria 45
409 LPP002 Lipoprotein Glomerulopathy 45
410 c BRD033 Bardet-Biedl Syndrome 13 45
411 c LPD019 Lipodystrophy, Partial, Acquired 44
412 P JVN024 Juvenile Hereditary Hemochromatosis 44
413 c BRD011 Bardet-Biedl Syndrome 10 44
414 P MTC004 Mitochondrial Encephalomyopathy 44
415 c BRT050 Bartter Syndrome, Type 2, Antenatal 44
416 MHR001 Mohr-Tranebjaerg Syndrome 44
417 c SPN103 Spinocerebellar Ataxia 31 44
418 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
419 c SPN308 Spinocerebellar Ataxia 28 44
420 c BRD018 Bardet-Biedl Syndrome 6 44
421 c TRN032 Transient Neonatal Diabetes Mellitus 44
422 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
423 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 43
424 c TYR011 Tyrosinemia, Type Iii 43
425 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
426 NNK001 Nonaka Myopathy 43
427 RBF001 Riboflavin Deficiency 43
428 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
429 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
430 P PLL002 Pellagra 43
431 c HYP057 Hypervitaminosis D 43
432 GLY031 Glycoproteinosis 43
433 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
434 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43
435 P CNG003 Congenital Dyserythropoietic Anemia 42
436 c SPN330 Spondylocostal Dysostosis 5 42
437 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 42
438 c MCL016 Mucolipidosis Iii Gamma 42
439 c BRD048 Bardet-Biedl Syndrome 18 42
440 DBT090 Diabetes and Deafness, Maternally Inherited 42
441 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
442 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
443 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
444 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
445 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
446 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
447 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
448 c CTR130 Cataract 9, Multiple Types 41
449 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
450 c HMC021 Hemochromatosis, Type 2a 41
451 c ALB016 Albinism, Oculocutaneous, Type Vii 41
452 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
453 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
454 c CTR098 Cataract 1, Multiple Types 41
455 TRS021 Triosephosphate Isomerase Deficiency 41
456 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
457 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
458 ARB001 Ariboflavinosis 41
459 c GLY098 Glycogen Storage Disease, Type Ixd 41
460 c ERL056 Early-Onset Parkinson's Disease 41
461 P MTC010 Mitochondrial Dna Depletion Syndrome 41
462 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
463 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
464 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
465 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
466 PRX005 Peroxisomal Biogenesis Disorder 40
467 c L2H001 L-2-Hydroxyglutaric Aciduria 40
468 BTN004 Biotin Deficiency 40
469 DHY011 Dihydropyrimidinase Deficiency 40
470 CHL045 Choline Deficiency Disease 40
471 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
472 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
473 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
474 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
475 P MYG005 Myoglobinuria 40
476 P XNT004 Xanthinuria 40
477 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
478 HYP236 Hyperbilirubinemia, Rotor Type 40
479 c BRD017 Bardet-Biedl Syndrome 5 39
480 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
481 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
482 EPL131 Epilepsy, Pyridoxine-Dependent 39
483 HRL004 Hurler-Scheie Syndrome 39
484 c PRK025 Parkinson Disease 10 39
485 CNZ001 Coenzyme Q10 Deficiency Disease 39
486 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
487 END028 Endemic Goiter 39
488 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
489 SLF014 Sulfite Oxidase Deficiency, Isolated 38
490 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
491 c MCP051 Mucopolysaccharidosis, Type Ix 38
492 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
493 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
494 HYP550 Hypomagnesemia 1, Intestinal 38
495 PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 38
496 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
497 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
498 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
499 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
500 CNZ005 Coenzyme Q10 Deficiency, Primary, 4 38
501 NTR007 Neutral Lipid Storage Disease with Myopathy 37
502 c MYC068 Myoclonic Epilepsy of Infancy 37
503 P ANT061 Antenatal Bartter Syndrome 37
504 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
505 c ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 37
506 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
507 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
508 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
509 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
510 SLT014 Salt and Pepper Developmental Regression Syndrome 37
511 CTN011 Cutaneous Porphyria 37
512 GLY032 Glycosylphosphatidylinositol Deficiency 37
513 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
514 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
515 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
516 c CTR103 Cataract 4, Multiple Types 37
517 ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 37
518 P SPS008 Spastic Ataxia 37
519 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
520 CHL050 Cholesterol Ester Storage Disease 36
521 c LBR007 Leber Congenital Amaurosis 12 36
522 c BRD045 Bardet-Biedl Syndrome 19 36
523 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
524 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
525 CHR387 Chromosome Xp21 Deletion Syndrome 36
526 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
527 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
528 c CTR118 Cataract 14, Multiple Types 36
529 NCT003 N-Acetylglutamate Synthase Deficiency 36
530 MNC019 Monocarboxylate Transporter 1 Deficiency 36
531 c LBR011 Leber Congenital Amaurosis 16 36
532 c CNG379 Congenital Disorder of Glycosylation, Type It 36
533 SNG007 Sengers Syndrome 36
534 c CTR170 Cataract 30, Multiple Types 36
535 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
536 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
537 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
538 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
539 c CTR115 Cataract 16, Multiple Types 35
540 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
541 c CTR141 Cataract 21, Multiple Types 35
542 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
543 c BRD047 Bardet-Biedl Syndrome 16 35
544 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 35
545 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 35
546 PCD001 Pica Disease 35
547 P SPS012 Spastic Paraplegia 3a 35
548 CLS049 Classic Phenylketonuria 35
549 c CTR122 Cataract 5, Multiple Types 35
550 c SPN299 Spinocerebellar Ataxia 20 35
551 LGH012 Leigh Syndrome with Leukodystrophy 35
552 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
553 P HYP111 Hyperprolinemia 35
554 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 35
555 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 34
556 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
557 KSH001 Keshan Disease 34
558 KNZ001 Kanzaki Disease 34
559 c HRD142 Hereditary Xanthinuria 34
560 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
561 c SPN247 Spinocerebellar Ataxia Type 19/22 34
562 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
563 MTC008 Mitochondrial Complex Iii Deficiency 34
564 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
565 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 34
566 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
567 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
568 FLT009 Folate Malabsorption, Hereditary 34
569 PHS022 Phosphoserine Phosphatase Deficiency 34
570 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
571 KLL014 Kelley-Seegmiller Syndrome 34
572 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 34
573 c ZLL011 Zellweger Spectrum Disorder 34
574 INF159 Infantile Sialic Acid Storage Disease 33
575 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
576 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
577 c HRD173 Hereditary Late-Onset Parkinson Disease 33
578 P 3MT007 3-Methylglutaconic Aciduria 33
579 c CTR125 Cataract 7 33
580 PYR016 Pyridoxine Deficiency 33
581 SRC015 Sarcosinemia 33
582 c DMN021 Diamond-Blackfan Anemia 6 33
583 PPC001 Pepck 1 Deficiency 33
584 c ORT011 Orthostatic Hypotension 1 33
585 c PRK093 Parkinson Disease 8, Autosomal Dominant 33
586 c BRD019 Bardet-Biedl Syndrome 7 33
587 PHS014 Phosphoglycerate Kinase 1 Deficiency 33
588 INC022 Inclusion-Cell Disease 33
589 c CTR145 Cataract 44 33
590 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
591 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
592 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
593 c SPN099 Spinocerebellar Ataxia 26 33
594 c PRX055 Peroxisome Biogenesis Disorder 11a 33
595 c SPS036 Spastic Paraplegia 3 33
596 c CTR096 Cataract 6, Multiple Types 33
597 GBT001 Gaba-Transaminase Deficiency 33
598 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
599 c HYP606 Hypokalemic Periodic Paralysis, Type 2 32
600 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
601 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
602 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
603 CMB020 Combined Saposin Deficiency 32
604 FLC001 Folic Acid Deficiency Anemia 32
605 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 32
606 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
607 HSD004 Hsd10 Mitochondrial Disease 32
608 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
609 P EPL198 Epilepsy, Myoclonic Juvenile 32
610 c HYP716 Hypermanganesemia with Dystonia 1 32
611 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
612 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
613 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 32
614 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
615 c PRX060 Peroxisome Biogenesis Disorder 5a 32
616 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
617 c PRP091 Porphyria Cutanea Tarda, Type I 32
618 c HMC034 Hemochromatosis, Type 5 32
619 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
620 PLY010 Polyclonal Hypergammaglobulinemia 31
621 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
622 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 31
623 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
624 c CNG188 Congenital Disorder of Glycosylation, Type if 31
625 c PRK071 Parkinson Disease 14, Autosomal Recessive 31
626 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
627 c PSD090 Pseudohypoaldosteronism, Type Iia 31
628 c ACQ027 Acquired Cutis Laxa 31
629 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
630 CRT011 Carotenemia 31
631 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
632 P FRS004 Free Sialic Acid Storage Disorders 31
633 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 31
634 c CTR158 Cataract 37 31
635 MLD010 Mild Phenylketonuria 31
636 c MTC116 Mitochondrial Myopathy, Infantile, Transient 30
637 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 30
638 c SPS021 Spastic Paraplegia 10 30
639 c PRX056 Peroxisome Biogenesis Disorder 11b 30
640 c CTR129 Cataract 31, Multiple Types 30
641 c CTR095 Cataract 8, Multiple Types 30
642 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
643 c LBR013 Leber Congenital Amaurosis 3 30
644 MTH077 Methylmalonic Aciduria, Cbla Type 30
645 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
646 c SPN098 Spinocerebellar Ataxia 25 30
647 c CTR174 Cataract 40 30
648 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
649 MYP097 Myopathy with Lactic Acidosis, Hereditary 30
650 PHS023 Phosphoserine Aminotransferase Deficiency 30
651 c HRM020 Hermansky-Pudlak Syndrome 10 30
652 24D001 2,4-Dienoyl-Coa Reductase Deficiency 30
653 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
654 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 30
655 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
656 c ATS210 Autosomal Recessive Sideroblastic Anemia 30
657 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
658 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
659 RBS005 Ribose 5-Phosphate Isomerase Deficiency 29
660 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
661 MNC004 Monoclonal Paraproteinemia 29
662 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 29
663 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
664 MCL022 Mucolipidoses 29
665 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
666 GLT028 Glutaric Aciduria Iii 29
667 c TYP035 Type 1 Diabetes Mellitus 11 29
668 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 29
669 c PRX063 Peroxisome Biogenesis Disorder 2a 29
670 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
671 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
672 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
673 c PRX050 Peroxisome Biogenesis Disorder 9b 29
674 c PRX048 Peroxisome Biogenesis Disorder 10a 29
675 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 29
676 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
677 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
678 GLT005 Glutamate Formiminotransferase Deficiency 29
679 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
680 P ACT241 Acute Bilirubin Encephalopathy 29
681 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
682 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
683 c LBR009 Leber Congenital Amaurosis 14 29
684 c PRX051 Peroxisome Biogenesis Disorder 6a 29
685 PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 28
686 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
687 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28
688 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
689 c PRX053 Peroxisome Biogenesis Disorder 14b 28
690 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 28
691 CNZ006 Coenzyme Q10 Deficiency, Primary, 1 28
692 CRT020 Cortisone Reductase Deficiency 28
693 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
694 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
695 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
696 c PRX054 Peroxisome Biogenesis Disorder 12a 28
697 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
698 c TYP037 Type 1 Diabetes Mellitus 13 28
699 c DMN017 Diamond-Blackfan Anemia 10 28
700 LCT017 Lactate Dehydrogenase B Deficiency 28
701 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 28
702 c SPN286 Spinocerebellar Ataxia 40 28
703 c PNT039 Pontocerebellar Hypoplasia, Type 7 28
704 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
705 c HRD186 Hereditary Spastic Paraplegia 51 28
706 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 28
707 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
708 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
709 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
710 c ALB017 Albinism, Oculocutaneous, Type Vi 28
711 c BRD021 Bardet-Biedl Syndrome 9 28
712 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
713 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
714 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
715 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 27
716 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
717 c CTR175 Cataract 24 27
718 c EPL155 Epilepsy, Progressive Myoclonic, 8 27
719 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 27
720 HMC001 Homocarnosinosis 27
721 c NPH102 Nephrotic Syndrome, Type 14 27
722 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
723 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
724 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
725 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
726 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
727 c BRD050 Bardet-Biedl Syndrome 21 27
728 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
729 c TYP033 Type 1 Diabetes Mellitus 7 27
730 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 27
731 c INF122 Infantile Krabbe Disease 27
732 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 27
733 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 27
734 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 27
735 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
736 c CRP022 Carpenter Syndrome 2 27
737 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
738 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
739 c SPS027 Spastic Paraplegia 17 27
740 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
741 GLY061 Glycogen Storage Disease 0, Muscle 27
742 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
743 c PRX065 Peroxisome Biogenesis Disorder 3a 27
744 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 27
745 ACD011 Acid Phosphatase Deficiency 27
746 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 27
747 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
748 c PRX043 Peroxisome Biogenesis Disorder 6b 26
749 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 26
750 c PRR026 Perrault Syndrome 5 26
751 MLD011 Mild Hyperphenylalaninemia 26
752 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 26
753 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
754 SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 26
755 VTM024 Vitamin B12-Responsive Methylmalonic Acidemia 26
756 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 26
757 CMB046 Combined Oxidative Phosphorylation Deficiency 11 26
758 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
759 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
760 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
761 c TYP028 Type 1 Diabetes Mellitus 2 26
762 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 26
763 c TYP031 Type 1 Diabetes Mellitus 5 26
764 LKT001 Leukotriene C4 Synthase Deficiency 26
765 CMB017 Combined Oxidative Phosphorylation Deficiency 6 26
766 c DMN022 Diamond-Blackfan Anemia 9 26
767 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 26
768 MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 26
769 c PRX046 Peroxisome Biogenesis Disorder 7a 26
770 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
771 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 26
772 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 26
773 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
774 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
775 c PRX057 Peroxisome Biogenesis Disorder 4a 25
776 c SPS142 Spastic Ataxia 2, Autosomal Recessive 25
777 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 25
778 c SPS013 Spastic Paraplegia 8 25
779 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
780 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
781 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 25
782 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 25
783 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25
784 c DMN019 Diamond-Blackfan Anemia 4 25
785 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 25
786 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 25
787 c SPN418 Spinocerebellar Ataxia 44 25
788 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 25
789 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
790 c PRK099 Parkinson Disease 18, Autosomal Dominant 25
791 c PRX091 Peroxisome Biogenesis Disorder 8a 25
792 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
793 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 25
794 CMB064 Combined Oxidative Phosphorylation Deficiency 24 25
795 c PRX058 Peroxisome Biogenesis Disorder 4b 25
796 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 25
797 c PRX047 Peroxisome Biogenesis Disorder 5b 25
798 CMB008 Combined Oxidative Phosphorylation Deficiency 25
799 MTC025 Mitochondrial Myopathy with Diabetes 25
800 c CTR166 Cataract 33, Multiple Types 25
801 CMB015 Combined Oxidative Phosphorylation Deficiency 4 25
802 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
803 c CTR116 Cataract 15, Multiple Types 25
804 c LBR029 Leber Congenital Amaurosis 17 25
805 c TYP032 Type 1 Diabetes Mellitus 6 25
806 SDH011 Sedoheptulokinase Deficiency 25
807 c SPN421 Spinocerebellar Ataxia 47 25
808 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 24
809 c TYP036 Type 1 Diabetes Mellitus 12 24
810 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 24
811 c EPL154 Epilepsy, Progressive Myoclonic, 9 24
812 c PRK052 Parkinson Disease 17 24
813 c BRD051 Bardet-Biedl Syndrome 20 24
814 c CHR026 Charcot-Marie-Tooth Disease Type X 24
815 c SPN102 Spinocerebellar Ataxia 30 24
816 c DMN040 Diamond-Blackfan Anemia 16 24
817 c CTR131 Cataract 17, Multiple Types 24
818 c CTR181 Cataract 18 24
819 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 24
820 c LBR010 Leber Congenital Amaurosis 15 24
821 c EPL134 Epilepsy, Progressive Myoclonic 7 24
822 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 24
823 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 24
824 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 24
825 c HMC019 Hemochromatosis, Type 2b 24
826 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 24
827 c TYP027 Type 1 Diabetes Mellitus 10 24
828 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
829 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24
830 MYP149 Myopathy, Mitochondrial, and Ataxia 24
831 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
832 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
833 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
834 SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 24
835 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 24
836 c PRX052 Peroxisome Biogenesis Disorder 13a 24
837 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
838 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
839 LCT013 Lactase Deficiency, Congenital 24
840 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 24
841 CMB045 Combined Oxidative Phosphorylation Deficiency 19 24
842 c DMN024 Diamond-Blackfan Anemia 7 24
843 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24
844 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
845 c SPN323 Spinocerebellar Ataxia 41 24
846 c SPS136 Spastic Ataxia 3, Autosomal Recessive 24
847 c SPS023 Spastic Paraplegia 13 24
848 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
849 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
850 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 24
851 PYR025 Pyruvate Dehydrogenase E2 Deficiency 24
852 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 24
853 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
854 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 24
855 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 24
856 CMB044 Combined Oxidative Phosphorylation Deficiency 14 23
857 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 23
858 c TYP038 Type 1 Diabetes Mellitus 15 23
859 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23
860 c PRK070 Parkinson Disease 21 23
861 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
862 c CTR124 Cataract 10, Multiple Types 23
863 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 23
864 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
865 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
866 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
867 c HYP597 Hyperprolinemia, Type Ii 23
868 CRT065 Cortisone Reductase Deficiency 1 23
869 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 23
870 c PRX062 Peroxisome Biogenesis Disorder 8b 23
871 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 23
872 c JVN058 Juvenile-Onset Parkinson's Disease 23
873 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
874 c CTR180 Cataract 22, Multiple Types 23
875 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 23
876 c CTR165 Cataract 19, Multiple Types 23
877 LPY002 Lipoyltransferase 1 Deficiency 23
878 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 23
879 c PNT042 Pontocerebellar Hypoplasia, Type 2f 23
880 c SPN259 Spinocerebellar Ataxia 32 23
881 P ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 23
882 c HYP713 Hypermanganesemia with Dystonia 2 23
883 CPP004 Copper Deficiency Myelopathy 23
884 c CTR119 Cataract 32, Multiple Types 23
885 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 23
886 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 23
887 c ANM034 Anemia, Sideroblastic, 4 23
888 CRT066 Cortisone Reductase Deficiency 2 23
889 MRC009 Mercaptolactate-Cysteine Disulfiduria 23
890 c PRC047 Precocious Puberty, Central, 1 23
891 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 23
892 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
893 c DMN006 Diamond-Blackfan Anemia 3 23
894 c CTR105 Cataract 12, Multiple Types 23
895 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
896 c DMN020 Diamond-Blackfan Anemia 8 23
897 c DMN005 Diamond-Blackfan Anemia 2 22
898 c PRR021 Perrault Syndrome 4 22
899 c DMN018 Diamond-Blackfan Anemia 5 22
900 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 22
901 CMB065 Combined Oxidative Phosphorylation Deficiency 26 22
902 c SPN419 Spinocerebellar Ataxia 45 22
903 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
904 CMB016 Combined Oxidative Phosphorylation Deficiency 5 22
905 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
906 c EPL188 Epilepsy, Progressive Myoclonic, 10 22
907 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 22
908 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 22
909 TRH001 Trehalase Deficiency 22
910 c CTR184 Cataract 39, Multiple Types 22
911 CMB043 Combined Oxidative Phosphorylation Deficiency 9 22
912 MTH040 Methylmalonyl-Coa Epimerase Deficiency 22
913 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 22
914 c SPS028 Spastic Paraplegia 18 22
915 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
916 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 22
917 MTC115 Mitochondrial Myopathy, Lethal, Infantile 22
918 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
919 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 22
920 HYP690 Hyper-Beta-Alaninemia 22
921 c EPL207 Epilepsy, Progressive Myoclonic, 1b 22
922 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
923 c DMN029 Diamond-Blackfan Anemia 11 22
924 c SPN107 Spinocerebellar Ataxia 9 22
925 CMB049 Combined Oxidative Phosphorylation Deficiency 17 22
926 CMB013 Combined Oxidative Phosphorylation Deficiency 2 22
927 c SPS034 Spastic Paraplegia 26 22
928 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 22
929 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 22
930 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
931 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 22
932 CNZ011 Coenzyme Q10 Deficiency, Primary, 8 22
933 c HYP510 Hyperekplexia 2 21
934 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
935 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
936 CMB048 Combined Oxidative Phosphorylation Deficiency 15 21
937 c CTR097 Cataract 34, Multiple Types 21
938 c CTR182 Cataract 23, Multiple Types 21
939 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 21
940 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
941 c PRC046 Precocious Puberty, Central, 2 21
942 c HYP825 Hyperekplexia 4 21
943 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 21
944 c TYP039 Type 1 Diabetes Mellitus 17 21
945 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
946 SRN001 Serine Deficiency 21
947 c PSD094 Pseudohypoaldosteronism, Type Iib 21
948 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
949 c PRX068 Peroxisome Biogenesis Disorder 7b 21
950 ISL116 Isolated Complex Iii Deficiency 21
951 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 21
952 c CTR111 Cataract 36 21
953 CMB082 Combined Oxidative Phosphorylation Deficiency 33 21
954 c CTR136 Cataract 41 21
955 PLY114 Polyglucosan Body Myopathy 2 21
956 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
957 c PRX066 Peroxisome Biogenesis Disorder 3b 21
958 c PRK094 Parkinson Disease 11, Autosomal Dominant 21
959 c PRX089 Peroxisome Biogenesis Disorder 10b 21
960 c SPS022 Spastic Paraplegia 12 20
961 PHS029 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 20
962 c PRK083 Parkinson Disease 22, Autosomal Dominant 20
963 CMB071 Combined Oxidative Phosphorylation Deficiency 27 20
964 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 20
965 c CTR183 Cataract 38 20
966 GLY094 Glycine Encephalopathy with Normal Serum Glycine 20
967 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
968 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 20
969 HMC036 Homocystinuria Without Methylmalonic Aciduria 20
970 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 20
971 c DMN028 Diamond-Blackfan Anemia 12 20
972 URC006 Urocanase Deficiency 20
973 c XLN227 X-Linked Chondrodysplasia Punctata 1 20
974 c XLN229 X-Linked Chondrodysplasia Punctata 2 20
975 CRN042 Carnosinemia 20
976 P PRX064 Peroxisome Biogenesis Disorder 2b 20
977 c DMN039 Diamond-Blackfan Anemia 17 20
978 CMB077 Combined Oxidative Phosphorylation Deficiency 30 20
979 CRB137 Cerebral Creatine Deficiency Syndrome 20
980 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
981 c CTR159 Cataract 35 20
982 c SPS032 Spastic Paraplegia 24 20
983 c HRD210 Hereditary Spastic Paraplegia 23 20
984 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
985 c CHR147 Charcot-Marie-Tooth Disease Type 2k 20
986 CMB052 Combined Oxidative Phosphorylation Deficiency 20 20
987 P HYP821 Hypermanganesemia with Dystonia 20
988 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
989 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
990 c CTR185 Cataract 30 20
991 CMB079 Combined Oxidative Phosphorylation Deficiency 29 20
992 c PRM150 Primary Localized Amyloidosis 20
993 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
994 c SPS029 Spastic Paraplegia 19 20
995 CMB051 Combined Oxidative Phosphorylation Deficiency 21 20
996 ISL082 Isolated Atp Synthase Deficiency 19
997 c DMN030 Diamond-Blackfan Anemia 13 19
998 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 19
999 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 19
1000 c PRR022 Perrault Syndrome 2 19
1001 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
1002 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
1003 c PRK098 Parkinson Disease 5, Autosomal Dominant 19
1004 c PSD068 Pseudohypoaldosteronism, Type Iic 19
1005 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
1006 CNZ004 Coenzyme Q10 Deficiency, Primary, 3 19
1007 c CTR106 Cataract 20, Multiple Types 19
1008 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1009 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
1010 c SPS033 Spastic Paraplegia 25 19
1011 c SPS035 Spastic Paraplegia 29 19
1012 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
1013 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
1014 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 19
1015 c D2H003 D-2-Hydroxyglutaric Aciduria 2 19
1016 c EPL217 Epilepsy, Juvenile Myoclonic 10 19
1017 c TRN053 Transient Pseudohypoaldosteronism 19
1018 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 19
1019 c CTR163 Cataract 46, Juvenile-Onset 19
1020 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 19
1021 c SPS080 Spastic Paraplegia 51 19
1022 c PRK022 Parkinson Disease 12 19
1023 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 19
1024 c CTR121 Cataract 25 19
1025 c HYP519 Hyperekplexia 3 19
1026 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
1027 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 19
1028 c CTR110 Cataract 26, Multiple Types 19
1029 c PRK058 Parkinson Disease 16 18
1030 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
1031 c DRY002 Dry Beriberi 18
1032 c SPS026 Spastic Paraplegia 16 18
1033 c SPN121 Spondylocostal Dysostosis 1 18
1034 TRN067 Transcobalamin I Deficiency 18
1035 c TYP040 Type 1 Diabetes Mellitus 18 18
1036 c LRR001 Lrrk2-Related Parkinson Disease 18
1037 c SPS161 Spastic Paraplegia 32 18
1038 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 18
1039 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
1040 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 18
1041 c CTR144 Cataract 43 18
1042 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 18
1043 c CTR157 Cataract 28 18
1044 c CTR139 Cataract 42 18
1045 c HRD188 Hereditary Spastic Paraplegia 72 18
1046 PRM123 Paramyloidosis 18
1047 c PRR033 Perrault Syndrome 6 18
1048 c CTR160 Cataract 45 18
1049 c EFM001 Efemp2-Related Cutis Laxa 18
1050 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
1051 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 18
1052 CMB085 Combined Oxidative Phosphorylation Deficiency 35 18
1053 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 18
1054 c DMN047 Diamond-Blackfan Anemia 18 18
1055 c MYC086 Myoclonic Epilepsy, Juvenile 4 17
1056 c SPS024 Spastic Paraplegia 14 17
1057 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
1058 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 17
1059 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
1060 c CTR178 Cataract 27 17
1061 c DWL004 Dowling-Degos Disease 4 17
1062 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 17
1063 c GLT029 Glutaric Acidemia Type Iii 17
1064 c TYP029 Type 1 Diabetes Mellitus 3 17
1065 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 17
1066 HYD031 Hydroxyprolinemia 17
1067 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 17
1068 CRB155 Carbonic Anhydrase Va Deficiency 17
1069 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
1070 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 17
1071 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 17
1072 WTB001 Wet Beriberi 17
1073 c CTR025 Cataract, Total Congenital 17
1074 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
1075 c EPL186 Epilepsy, Juvenile Myoclonic 9 16
1076 c AHM002 Ah Amyloidosis 16
1077 c TYP030 Type 1 Diabetes Mellitus 4 16
1078 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 16
1079 ATY025 Atypical Glycine Encephalopathy 16
1080 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
1081 c EXS021 Exostoses, Multiple, Type Iii 16
1082 c DMN045 Diamond-Blackfan Anemia-Like 16
1083 c MYG006 Myoglobinuria, Autosomal Dominant 16
1084 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16
1085 c TYS005 Tay-Sachs Disease, B1 Variant 16
1086 c PRT135 Protoporphyria, Erythropoietic, 2 16
1087 c CTR187 Cataract 48 16
1088 GNT042 Genetic Recurrent Myoglobinuria 16
1089 c DMN048 Diamond-Blackfan Anemia 19 16
1090 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 16
1091 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 15
1092 LYS024 Lysosomal and Lipase Deficiency 15
1093 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 15
1094 c DMN049 Diamond-Blackfan Anemia 20 15
1095 c MTC014 Mitochondrial Dna Deletion Syndromes 15
1096 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
1097 VLN001 Valinemia 15
1098 c TYP034 Type 1 Diabetes Mellitus 8 15
1099 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 15
1100 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1101 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
1102 HYD055 Hydroxylysinuria 15
1103 c SPS040 Spastic Paraplegia 5b 15
1104 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
1105 c INF047 Infantile Free Sialic Acid Storage Disease 14
1106 PRM138 Pure Mitochondrial Myopathy 14
1107 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1108 c SPS230 Spastic Paraplegia Type 49 14
1109 c CTR128 Cataract 33 14
1110 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 14
1111 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 14
1112 MTH003 Methylmalonic Aciduria and Homocystinuria Type Cble 14
1113 MTH002 Methylmalonic Aciduria and Homocystinuria Type Cblg 14
1114 c TFR001 Tfr2-Related Hereditary Hemochromatosis 14
1115 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
1116 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
1117 c MYC085 Myoclonic Epilepsy, Juvenile 3 14
1118 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 14
1119 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 14
1120 c PSD023 Pseudo-Gaucher Disease 14
1121 GNR029 Generalized Galactose Epimerase Deficiency 14
1122 c PRM209 Primary Trimethylaminuria 13
1123 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
1124 c SPS165 Spastic Paraplegia 47 13
1125 DBS003 Dibasic Amino Aciduria I 13
1126 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 13
1127 c SPR097 Sporadic Hyperekplexia 13
1128 c DWL005 Dowling-Degos Disease 3 13
1129 ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 13
1130 PHS019 Phosphohydroxylysinuria 13
1131 c SPN122 Spondylocostal Dysostosis 2 13
1132 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1133 c SPN123 Spondylocostal Dysostosis 3 12
1134 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1135 c ACQ002 Acquired Night Blindness 12
1136 c B3G001 B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome 12
1137 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
1138 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 12
1139 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
1140 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
1141 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
1142 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
1143 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 11
1144 c SPS214 Spastic Ataxia 4 11
1145 c SPS171 Spastic Ataxia 5 11
1146 c GM2001 Gm2 Gangliosidosis, 0 Variant 11
1147 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
1148 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 11
1149 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 11
1150 c SPN124 Spondylocostal Dysostosis 4 11
1151 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 10
1152 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 10
1153 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
1154 FLN005 Folinic Acid-Responsive Seizures 10
1155 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
1156 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
1157 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
1158 c SPS162 Spastic Ataxia 1 10
1159 c SPS163 Spastic Ataxia 3 10
1160 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 10
1161 c LTN017 Late-Infantile/juvenile Krabbe Disease 10
1162 c SCN047 Secondary Pulmonary Hemosiderosis 10
1163 c ACT189 Acute Neonatal Citrullinemia Type I 10
1164 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
1165 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1166 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1167 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1168 c SCN039 Secondary Central Precocious Puberty 9
1169 c INT094 Intermediate Severe Salla Disease 9
1170 ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 9
1171 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
1172 c SPS170 Spastic Ataxia 2 9
1173 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1174 c FBL003 Fbln5-Related Cutis Laxa 9
1175 c ADL071 Adult Krabbe Disease 9
1176 c LCT020 Lactic Acidosis, Chronic Adult Form 9
1177 c ADL083 Adult-Onset Citrullinemia Type I 9
1178 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 9
1179 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 9
1180 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 9
1181 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1182 c SPS172 Spastic Ataxia 7 8
1183 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
1184 c SPS229 Spastic Ataxia 8 8
1185 c EPL009 Epilepsy Progressive Myoclonic Type 3 8
1186 c CTR008 Cataract Congenital Autosomal Dominant 8
1187 c ALP056 Alpha-Mannosidosis, Adult Form 8
1188 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1189 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
1190 P TTL001 Total Internal Ophthalmoplegia 8
1191 DRR012 Diarrhea, Chronic, with Villous Atrophy 7
1192 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 7
1193 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
1194 P JVN036 Juvenile Sialidosis Type 2 7
1195 c CNG348 Congenital Sialidosis Type 2 7
1196 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
1197 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
1198 THM026 Thiamine Deficiency Disease 7
1199 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
1200 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
1201 TRN049 Transient Tyrosinemia of the Newborn 7
1202 c SJG003 Sjogren-Larsson-Like Syndrome 7
1203 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 7
1204 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 7
1205 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 7
1206 TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7
1207 RNN007 Reunion Island Larsen-Like Syndrome 7
1208 c VPS003 Vps35-Related Parkinson Disease 6
1209 DBT003 Diabetic Peripheral Angiopathy 6
1210 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1211 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
1212 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
1213 c ATS408 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 6
1214 P SYC001 Say Carpenter Syndrome 5
1215 XYL001 Xylt1-Cdg 5
1216 CRB012 Cerebral Folate Receptor Alpha Deficiency 5
1217 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
1218 MTC180 Mitochondrial Dna-Related Dystonia 5
1219 c LCT010 Lactic Acidosis Congenital Infantile 5
1220 ISL027 Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type 5
1221 c MYG002 Myoglobinuria Dominant Form 5
1222 HRD143 Hereditary Hypercarotenemia and Vitamin a Deficiency 4
1223 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
1224 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
1225 ADN058 Adenylosuccinase Lyase Deficiency 3
1226 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 56
1227 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 48
1228 KWS001 Kwashiorkor 46
1229 P GLT035 Glutaric Acidemia I 46
1230 3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 27
1231 CRN295 Carnitine Palmitoyltransferase I Deficiency 54
1232 SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53
1233 ADN024 Adenine Phosphoribosyltransferase Deficiency 49
1234 P TRC086 Trichohepatoenteric Syndrome 1 60
1235 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
1236 P MNN019 Mannosidosis, Beta a, Lysosomal 52
1237 HST006 Histidinemia 44
1238 c TRC078 Trichohepatoenteric Syndrome 2 35
1239 MTC026 Mitochondrial Myopathy with Lactic Acidosis 27
1240 NTR002 Nutritional Optic Neuropathy 17
1241 EFV001 Efavirenz, Poor Metabolism of 14
1242 P PLY011 Polycystic Ovary Syndrome 64
1243 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 62
1244 c GLY003 Glycogen Storage Disease Iii 61
1245 c FTT008 Fatty Liver Disease, Nonalcoholic 1 60
1246 FRC011 Fructose Intolerance, Hereditary 60
1247 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
1248 GLY010 Glycine Encephalopathy 57
1249 P NNL004 Nonalcoholic Fatty Liver Disease 56
1250 CRN239 Carnitine Deficiency, Systemic Primary 54
1251 CHY002 Chylomicron Retention Disease 54
1252 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1253 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 52
1254 LYS003 Lysinuric Protein Intolerance 51
1255 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 49
1256 CRB045 Cerebellar Hypoplasia 49
1257 GLC011 Galactose Epimerase Deficiency 49
1258 ENC055 Encephalopathy, Ethylmalonic 48
1259 ULN003 Ulnar-Mammary Syndrome 48
1260 c MGL018 Megaloblastic Anemia 1 47
1261 ADP001 Adiposis Dolorosa 46
1262 c PLY105 Polycystic Ovary Syndrome 1 42
1263 c XNT010 Xanthinuria, Type I 41
1264 ADN022 Adenylosuccinase Deficiency 40
1265 c PSD117 Pseudohypoparathyroidism, Type Ic 40
1266 P HYP769 Hyperlysinemia, Type I 39
1267 INT088 Intrinsic Factor Deficiency 35
1268 CNG016 Congenital Intrinsic Factor Deficiency 35
1269 FMR004 Fumarase Deficiency 35
1270 ASP024 Asparagine Synthetase Deficiency 34
1271 c XNT011 Xanthinuria, Type Ii 34
1272 c PSD104 Pseudohypoparathyroidism, Type Ii 34
1273 LGH003 Leigh Syndrome, French Canadian Type 29
1274 P HYP658 Hypoplastic Amelogenesis Imperfecta 27
1275 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 26
1276 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 24
1277 c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 22
1278 c FTT007 Fatty Liver Disease, Nonalcoholic 2 13
1279 MPL011 Maple Syrup Urine Disease, Mild Variant 13
1280 P LVR013 Liver Disease 76
1281 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
1282 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
1283 SCH036 Scheie Syndrome 67
1284 ISC004 Ischemia 67
1285 c NMN015 Niemann-Pick Disease, Type C1 67
1286 LGH007 Leigh Syndrome 67
1287 P DBT009 Diabetes Mellitus 67
1288 FTT001 Fatty Liver Disease 66
1289 P HYP086 Hypothyroidism 66
1290 ETN001 Eating Disorder 65
1291 P HML002 Hemolytic Anemia 64
1292 HYP056 Hypoglycemia 64
1293 CYS013 Cystinuria 64
1294 P HYP724 Hyperlipoproteinemia, Type Iii 63
1295 c MCP001 Mucopolysaccharidosis Iii 63
1296 P PRX003 Paroxysmal Nocturnal Hemoglobinuria 63
1297 GST033 Gestational Diabetes 63
1298 P NPH012 Nephrotic Syndrome 63
1299 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
1300 c MCP052 Mucopolysaccharidosis, Type Vi 61
1301 NRM019 Neuraminidase Deficiency 60
1302 PRP001 Propionic Acidemia 60
1303 P MLG056 Malignant Hyperthermia 60
1304 DBT083 Diabetes Mellitus, Permanent Neonatal 60
1305 P NRN021 Neuronal Ceroid Lipofuscinosis 60
1306 P CTR002 Cataract 59
1307 c MCP004 Mucopolysaccharidosis Iv 59
1308 P FCS002 Fucosidosis 59
1309 LNN001 Lennox-Gastaut Syndrome 59
1310 c CNG006 Congenital Hypothyroidism 59
1311 ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58
1312 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
1313 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
1314 c GM1007 Gm1 Gangliosidosis 58
1315 GST037 Gastroparesis 57
1316 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 57
1317 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1318 DBF001 D-Bifunctional Protein Deficiency 56
1319 IRN001 Iron Deficiency Anemia 55
1320 P HYP614 Hyperlipidemia, Familial Combined 55
1321 DBN001 Dubin-Johnson Syndrome 55
1322 HYP014 Hyperuricemia 55
1323 MTC027 Mitochondrial Trifunctional Protein Deficiency 55
1324 P LMB006 Limb-Girdle Muscular Dystrophy 55
1325 PPL049 Papillon-Lefevre Syndrome 54
1326 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
1327 HYP052 Hyperkalemic Periodic Paralysis 54
1328 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1329 MCR004 Macroglobulinemia 54
1330 HYP732 Hyperalphalipoproteinemia 1 53
1331 CNV004 Canavan Disease 53
1332 P BRT004 Bartter Disease 53
1333 CYS010 Cystinosis 53
1334 c ACT134 Acute Liver Failure 53
1335 HMC014 Homocysteinemia 53
1336 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 53
1337 P HYP818 Hypobetalipoproteinemia, Familial, 1 53
1338 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
1339 VTM028 Vitamin E, Familial Isolated Deficiency of 52
1340 c HYP740 Hyperlipoproteinemia, Type V 52
1341 LPD009 Lipid Storage Disease 52
1342 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1343 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 52
1344 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1345 P SLL003 Salla Disease 52
1346 CLC001 Calciphylaxis 52
1347 P FML012 Familial Partial Lipodystrophy 52
1348 P SHR001 Short Bowel Syndrome 52
1349 c DWL002 Dowling-Degos Disease 1 52
1350 c HRM017 Hermansky-Pudlak Syndrome 2 51
1351 c ALB020 Albinism, Oculocutaneous, Type Iii 51
1352 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
1353 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
1354 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 51
1355 P FML035 Familial Hyperlipidemia 51
1356 OCC006 Occipital Horn Syndrome 51
1357 GYR004 Gyrate Atrophy of Choroid and Retina 50
1358 CYS036 Cystinosis, Nephropathic 50
1359 c NPH055 Nephrotic Syndrome, Type 1 50
1360 HYP781 Hypoascorbemia 50
1361 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
1362 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
1363 P ERL057 Early Infantile Epileptic Encephalopathy 49
1364 FML026 Familial Lipoprotein Lipase Deficiency 49
1365 WRN003 Wernicke Encephalopathy 49
1366 HYP017 Hypophosphatemia 49
1367 c HYP739 Hyperlipoproteinemia, Type Iv 49
1368 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1369 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 48
1370 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 48
1371 P D2H002 D-2-Hydroxyglutaric Aciduria 1 48
1372 HMZ003 Homozygous Familial Hypercholesterolemia 48
1373 ALB002 Albinism 48
1374 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 47
1375 PYC001 Pycnodysostosis 47
1376 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 47
1377 VTM033 Vitamin K Deficiency Bleeding 47
1378 c INF145 Infantile Liver Failure Syndrome 1 47
1379 P MTH008 Methylmalonic Acidemia 47
1380 c EXS019 Exostoses, Multiple, Type I 47
1381 P LCT002 Lactose Intolerance 47
1382 c HYP768 Hyperlipoproteinemia, Type I 47
1383 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1384 c HYP396 Hypercholesterolemia, Autosomal Recessive 47
1385 c CHR095 Chronic Progressive External Ophthalmoplegia 47
1386 PRP056 Porphyria, Acute Hepatic 47
1387 P BRB001 Beriberi 46
1388 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 46
1389 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 46
1390 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
1391 HPT025 Hepatic Lipase Deficiency 46
1392 P DWL001 Dowling-Degos Disease 46
1393 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
1394 c LBR004 Leber Congenital Amaurosis 1 46
1395 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
1396 CRB150 Cerebral Creatine Deficiency Syndrome 2 45
1397 FML036 Familial Periodic Paralysis 45
1398 DPM001 Dopamine Beta-Hydroxylase Deficiency 45
1399 c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 45
1400 P HRD001 Hereditary Multiple Exostoses 45
1401 c HYP794 Hyperoxaluria, Primary, Type I 45
1402 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 45
1403 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 45
1404 P RNL045 Renal Tubular Acidosis, Distal 45
1405 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 44
1406 c MCP047 Mucopolysaccharidosis, Type Iva 44
1407 c MCP044 Mucopolysaccharidosis, Type Iiib 44
1408 SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 44
1409 P PLM085 Pulmonary Hemosiderosis 44
1410 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
1411 GLC022 Glucose/galactose Malabsorption 44
1412 c BRT042 Bartter Syndrome, Type 3 44
1413 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 44
1414 IMN001 Iminoglycinuria 43
1415 HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 43
1416 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1417 P PNT019 Pontocerebellar Hypoplasia 43
1418 c HYP290 Hypobetalipoproteinemia, Familial, 2 43
1419 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
1420 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 42
1421 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
1422 P CNG436 Congenital Disorder of Deglycosylation 42
1423 c LBR019 Leber Congenital Amaurosis 9 42
1424 CYS019 Cystathioninuria 42
1425 GLY015 Glycine N-Methyltransferase Deficiency 42
1426 P HYP776 Hyperparathyroidism, Neonatal Severe 42
1427 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1428 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 42
1429 P KLF001 Kleefstra Syndrome 42
1430 c NPH049 Nephrotic Syndrome, Type 2 42
1431 MCP033 Mucopolysaccharidoses 41
1432 CRB148 Cerebral Creatine Deficiency Syndrome 3 41
1433 c MLG147 Malignant Hyperthermia 1 41
1434 c ALB024 Albinism, Ocular, Type I 41
1435 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 41
1436 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 41
1437 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
1438 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 40
1439 c PNT010 Pontocerebellar Hypoplasia Type 1 40
1440 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
1441 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 40
1442 HYP003 Hypermethioninemia 40
1443 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 40
1444 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
1445 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 40
1446 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 40
1447 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 40
1448 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 40
1449 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39
1450 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 39
1451 c HRM011 Hermansky-Pudlak Syndrome 8 39
1452 MTH074 Methionine Adenosyltransferase I/iii Deficiency 39
1453 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
1454 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 39
1455 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 39
1456 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39
1457 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 39
1458 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 39
1459 MLY001 Molybdenum Cofactor Deficiency 39
1460 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
1461 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1462 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
1463 c CNG413 Congenital Short Bowel Syndrome 39
1464 BTR002 Beta-Ureidopropionase Deficiency 38
1465 c HYP602 Hyperoxaluria, Primary, Type Ii 38
1466 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1467 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 38
1468 P 2HY001 2-Hydroxyglutaric Aciduria 38
1469 c MYG007 Myoglobinuria, Recurrent 38
1470 SCR037 Sucrase-Isomaltase Deficiency, Congenital 38
1471 c LBR012 Leber Congenital Amaurosis 2 38
1472 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 37
1473 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 37
1474 HMC038 Hemochromatosis, Neonatal 37
1475 TRN021 Transaldolase Deficiency 37
1476 c HRM012 Hermansky-Pudlak Syndrome 9 37
1477 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 37
1478 DCR008 Dicarboxylic Aminoaciduria 37
1479 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 37
1480 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
1481 APL017 Apolipoprotein C-Ii Deficiency 36
1482 c NPH054 Nephrotic Syndrome, Type 3 36
1483 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 36
1484 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
1485 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 36
1486 HMM002 Haim-Munk Syndrome 36
1487 ACT209 Acatalasemia 36
1488 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1489 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 36
1490 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 35
1491 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 35
1492 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1493 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
1494 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 35
1495 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
1496 c HRM010 Hermansky-Pudlak Syndrome 7 35
1497 P SCH017 Schindler Disease 35
1498 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
1499 c MCP048 Mucopolysaccharidosis, Type Ivb 34
1500 P PRR025 Perrault Syndrome 34
1501 P HYP210 Hypomagnesemia 2, Renal 34
1502 c MCP045 Mucopolysaccharidosis, Type Iiic 34
1503 c LBR005 Leber Congenital Amaurosis 10 34
1504 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
1505 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
1506 c SCH069 Schindler Disease, Type I 34
1507 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1508 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
1509 c RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 34
1510 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 34
1511 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
1512 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 34
1513 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 34
1514 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 34
1515 DSM002 Desmosterolosis 34
1516 LPS020 Lipase Deficiency, Combined 33
1517 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 33
1518 c HYP603 Hyperoxaluria, Primary, Type Iii 33
1519 c PNT043 Pontocerebellar Hypoplasia, Type 4 33
1520 WRN004 Wrinkly Skin Syndrome 33
1521 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33
1522 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 33
1523 P CNG002 Congenital Bile Acid Synthesis Defect 33
1524 c BNG079 Benign Adult Familial Myoclonic Epilepsy 33
1525 c KLF004 Kleefstra Syndrome 1 33
1526 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 33
1527 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
1528 c ORT012 Orthostatic Hypotension 2 33
1529 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 33
1530 c CHR682 Chronic Bilirubin Encephalopathy 33
1531 c HYP804 Hyperlipidemia, Combined, 1 33
1532 c CTR102 Cataract 2, Multiple Types 33
1533 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 33
1534 P PRK101 Parkinsonism-Dystonia, Infantile, 1 33
1535 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 33
1536 CMB012 Combined Oxidative Phosphorylation Deficiency 1 33
1537 c MYC083 Myoclonic Epilepsy, Familial Infantile 33
1538 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 32
1539 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 32
1540 c CTR132 Cataract 3, Multiple Types 32
1541 LTH002 Lathosterolosis 32
1542 c GCH013 Gaucher Disease, Type Iiic 32
1543 c MCP046 Mucopolysaccharidosis, Type Iiid 32
1544 MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 32
1545 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 32
1546 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1547 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
1548 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1549 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 31
1550 c ERY065 Erythrocytosis, Familial, 7 31
1551 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 31
1552 c CNT101 Central Congenital Hypothyroidism 31
1553 c LBR016 Leber Congenital Amaurosis 6 31
1554 c EXS020 Exostoses, Multiple, Type Ii 31
1555 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1556 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
1557 c SPN284 Spinocerebellar Ataxia 38 31
1558 c LBR018 Leber Congenital Amaurosis 8 31
1559 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
1560 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1561 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
1562 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 30
1563 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 30
1564 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1565 GLY099 Glycogen Storage Disease Ixa1 30
1566 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 30
1567 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
1568 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 30
1569 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 30
1570 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
1571 c LBR015 Leber Congenital Amaurosis 5 30
1572 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 30
1573 GLY058 Glycogen Storage Disease 0, Liver 30
1574 P ALB023 Albinism, Ocular, with Sensorineural Deafness 30
1575 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1576 PNC048 Pancreatic Lipase Deficiency 30
1577 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 29
1578 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 29
1579 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
1580 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
1581 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 29
1582 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 29
1583 NST002 Nestor-Guillermo Progeria Syndrome 29
1584 c HYP248 Hyperprolinemia, Type I 29
1585 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 29
1586 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
1587 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 29
1588 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 29
1589 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 28
1590 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 28
1591 c PRX094 Paroxysmal Nocturnal Hemoglobinuria 1 28
1592 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
1593 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1594 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
1595 CMB026 Combined Oxidative Phosphorylation Deficiency 12 28
1596 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
1597 SCH030 Schneckenbecken Dysplasia 28
1598 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 28
1599 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
1600 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
1601 CRD231 Cardiomyopathy, Infantile Histiocytoid 28
1602 c CTR113 Cataract 11, Multiple Types 28
1603 LGH013 Leigh Syndrome with Cardiomyopathy 27
1604 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
1605 c LVR030 Liver Failure, Infantile, Transient 27
1606 c PRK065 Parkinson Disease 20, Early-Onset 27
1607 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 27
1608 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 27
1609 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 27
1610 GBM001 Gaba Aminotransferase Deficiency 27
1611 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 27
1612 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 27
1613 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 27
1614 c LBR008 Leber Congenital Amaurosis 13 27
1615 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
1616 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1617 c LPD044 Lipodystrophy, Familial Partial, Type 7 26
1618 FTL068 Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 26
1619 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 26
1620 CYS045 Cystinosis, Adult Nonnephropathic 26
1621 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
1622 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
1623 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 26
1624 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1625 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
1626 CYS046 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 26
1627 c FML324 Familial Porphyria Cutanea Tarda 26
1628 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 26
1629 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 26
1630 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
1631 c PRK091 Parkinson Disease 4, Autosomal Dominant 26
1632 c SPS208 Spastic Ataxia 4, Autosomal Recessive 26
1633 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 26
1634 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 26
1635 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
1636 5XP001 5-Oxoprolinase Deficiency 26
1637 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
1638 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 26
1639 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
1640 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 26
1641 GLT011 Glutamine Deficiency, Congenital 26
1642 CMB014 Combined Oxidative Phosphorylation Deficiency 3 26
1643 P PRM227 Primary Orthostatic Hypotension 25
1644 c PSD093 Pseudohypoaldosteronism, Type Iid 25
1645 HYD030 Hydroxykynureninuria 25
1646 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 25
1647 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 25
1648 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1649 c CTR169 Cataract 29 25
1650 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
1651 c NPH047 Nephrotic Syndrome, Type 4 25
1652 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 25
1653 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
1654 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 24
1655 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
1656 c PRR024 Perrault Syndrome 3 24
1657 LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 24
1658 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 24
1659 CMB011 Combined Malonic and Methylmalonic Aciduria 24
1660 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
1661 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 24
1662 CMB084 Combined Oxidative Phosphorylation Deficiency 34 24
1663 c NPH073 Nephrotic Syndrome, Type 8 24
1664 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
1665 c LCT011 Lactose Intolerance, Adult Type 24
1666 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 24
1667 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
1668 c CTR162 Cataract 47 24
1669 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 24
1670 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
1671 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
1672 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 23
1673 c PRK008 Parkinson Disease Type 9 23
1674 CMB019 Combined Oxidative Phosphorylation Deficiency 8 23
1675 c NLX003 Neu-Laxova Syndrome 2 23
1676 c NPH095 Nephrotic Syndrome, Type 11 23
1677 c HYP819 Hyperlipoproteinemia, Type Id 23
1678 CMB041 Combined Oxidative Phosphorylation Deficiency 13 23
1679 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
1680 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 23
1681 c PRK102 Parkinsonism-Dystonia, Infantile, 2 23
1682 CMB083 Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia 23
1683 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
1684 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 22
1685 c NPH074 Nephrotic Syndrome, Type 9 22
1686 CMB054 Combined Oxidative Phosphorylation Deficiency 23 22
1687 c NPH103 Nephrotic Syndrome, Type 15 22
1688 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
1689 c INT262 Intermediate Maple Syrup Urine Disease 22
1690 c HYP163 Hyperlipidemia Type 3 22
1691 CMB025 Combined Oxidative Phosphorylation Deficiency 10 22
1692 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1693 c MLG151 Malignant Hyperthermia 5 22
1694 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
1695 c INF138 Infantile Liver Failure Syndrome 2 22
1696 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 22
1697 c MLG148 Malignant Hyperthermia 2 22
1698 c ATP003 Atp6v0a2-Related Cutis Laxa 22
1699 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
1700 c PRX067 Paroxysmal Nocturnal Hemoglobinuria 2 21
1701 c MLG149 Malignant Hyperthermia 3 21
1702 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
1703 HYP279 Hypercholanemia, Familial 21
1704 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 21
1705 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
1706 ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 21
1707 CRD192 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 21
1708 c ERY067 Erythrocytosis, Familial, 8 21
1709 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
1710 c MLG150 Malignant Hyperthermia 4 21
1711 c BRT024 Bartter Syndrome Type 4 21
1712 IMM194 Immunodeficiency 59 and Hypoglycemia 21
1713 c NPH096 Nephrotic Syndrome, Type 12 21
1714 CRD158 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 20
1715 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 20
1716 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 20
1717 c LBR006 Leber Congenital Amaurosis 11 20
1718 VRR003 Verruciform Xanthoma of Skin 20
1719 P CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 20
1720 MTC037 Mitochondrial Phosphate Carrier Deficiency 20
1721 CMB072 Combined Oxidative Phosphorylation Deficiency 28 20
1722 c HYP831 Hyperparathyroidism, Transient Neonatal 20
1723 c KLF005 Kleefstra Syndrome 2 20
1724 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 19
1725 BRK013 Birk-Landau-Perez Syndrome 19
1726 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19
1727 c HYP445 Hypomagnesemia 6, Renal 19
1728 HYP187 Hypertryptophanemia 19
1729 c CHR142 Charcot-Marie-Tooth Disease Type 2f 19
1730 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19
1731 c NPH076 Nephrotic Syndrome, Type 10 19
1732 c ERY064 Erythrocytosis, Familial, 6 19
1733 c NPH105 Nephrotic Syndrome, Type 17 19
1734 c LBR017 Leber Congenital Amaurosis 7 19
1735 c NPH107 Nephrotic Syndrome, Type 19 19
1736 c NPH104 Nephrotic Syndrome, Type 16 19
1737 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 19
1738 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1739 c NPH106 Nephrotic Syndrome, Type 18 18
1740 LGH017 Leigh Syndrome with Nephrotic Syndrome 18
1741 c PLL014 Pellagra-Like Syndrome 18
1742 CPP001 Copper Deficiency, Familial Benign 18
1743 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 18
1744 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1745 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1746 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1747 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1748 BTM003 Beta-Aminoisobutyric Aciduria 17
1749 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1750 c DWL003 Dowling-Degos Disease 2 17
1751 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 17
1752 c MLG152 Malignant Hyperthermia 6 17
1753 NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 17
1754 c NPH093 Nephrotic Syndrome, Type 13 17
1755 CRD193 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 17
1756 c HYP302 Hypomagnesemia 4, Renal 17
1757 RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 16
1758 ZNC006 Zinc, Elevated Plasma 16
1759 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 16
1760 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 16
1761 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
1762 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 15
1763 INT043 Intestinal Disaccharidase Deficiency 15
1764 PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 15
1765 NNP016 Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 15
1766 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 15
1767 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 15
1768 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 14
1769 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
1770 HRD160 Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 14
1771 FML315 Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 13
1772 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 13
1773 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
1774 c CHR571 Charcot-Marie-Tooth Disease Type 5 12
1775 c HYP333 Hyperlipidemia, Combined, 2 12
1776 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
1777 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
1778 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
1779 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 11
1780 c RNL048 Renal Tubular Acidosis, Distal, Type 3 10
1781 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1782 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
1783 c SCN046 Secondary Short Bowel Syndrome 5
1784 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
1785 INF171 Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5
1786 c RNL049 Renal Tubular Acidosis, Distal, Type 4 5
1787 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
1788 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1789 MHM001 Mehmo Syndrome 35
1790 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
1791 STR067 Stroke, Ischemic 82
1792 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1793 ACR006 Aceruloplasminemia 73
1794 CNN003 Conn's Syndrome 70
1795 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 60
1796 ALK013 Alkaptonuria 57
1797 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 53
1798 c MNT143 Mental Retardation, Autosomal Dominant 13 42
1799 P MNT319 Mental Retardation, Autosomal Dominant 20 41
1800 AMN007 Aminoacylase 1 Deficiency 37
1801 c MNT185 Mental Retardation, Autosomal Dominant 7 30
1802 c MNT145 Mental Retardation, Autosomal Recessive 5 30
1803 c MNT210 Mental Retardation, Autosomal Recessive 42 29
1804 c MNT155 Mental Retardation, Autosomal Recessive 2 29
1805 c MNT158 Mental Retardation, Autosomal Dominant 22 29
1806 c MNT212 Mental Retardation, Autosomal Dominant 26 28
1807 c MNT241 Mental Retardation, Autosomal Dominant 32 28
1808 c MNT246 Mental Retardation, Autosomal Dominant 38 28
1809 c MNT183 Mental Retardation, Autosomal Recessive 36 28
1810 c MNT328 Mental Retardation, Autosomal Dominant 52 28
1811 c MNT280 Mental Retardation, Autosomal Dominant 43 28
1812 c MNT157 Mental Retardation, Autosomal Dominant 18 28
1813 c MNT213 Mental Retardation, Autosomal Recessive 40 27
1814 c MNT262 Mental Retardation, Autosomal Dominant 42 27
1815 c MNT242 Mental Retardation, Autosomal Dominant 40 27
1816 c MNT166 Mental Retardation, Autosomal Recessive 39 27
1817 c MNT270 Mental Retardation, Autosomal Recessive 53 27
1818 c MNT226 Mental Retardation, Autosomal Dominant 31 27
1819 c MNT244 Mental Retardation, Autosomal Recessive 49 27
1820 c MNT273 Mental Retardation, Autosomal Dominant 44 26
1821 c MNT324 Mental Retardation, Autosomal Dominant 49 26
1822 c MNT222 Mental Retardation, Autosomal Dominant 29 26
1823 c MNT214 Mental Retardation, Autosomal Dominant 24 26
1824 c MNT239 Mental Retardation, Autosomal Dominant 35 26
1825 c MNT184 Mental Retardation, Autosomal Dominant 11 26
1826 c MNT287 Mental Retardation, Autosomal Recessive 57 26
1827 c MNT176 Mental Retardation, Autosomal Recessive 38 26
1828 c MNT216 Mental Retardation, Autosomal Recessive 41 26
1829 c MNT325 Mental Retardation, Autosomal Recessive 61 26
1830 c MNT322 Mental Retardation, Autosomal Dominant 27 26
1831 c MNT236 Mental Retardation, Autosomal Dominant 39 26
1832 c MNT211 Mental Retardation, Autosomal Dominant 23 26
1833 c MNT150 Mental Retardation, Autosomal Recessive 15 26
1834 c MNT334 Mental Retardation, Autosomal Dominant 57 25
1835 c MNT282 Mental Retardation, Autosomal Recessive 55 25
1836 c MNT219 Mental Retardation, Autosomal Dominant 30 25
1837 c MNT238 Mental Retardation, Autosomal Dominant 34 25
1838 c MNT177 Mental Retardation, Autosomal Recessive 27 25
1839 c MNT332 Mental Retardation, Autosomal Dominant 56 25
1840 c MNT321 Mental Retardation, Autosomal Recessive 37 25
1841 c MNT186 Mental Retardation, Autosomal Dominant 10 25
1842 c MNT272 Mental Retardation, Autosomal Dominant 41 25
1843 c MNT245 Mental Retardation, Autosomal Dominant 36 25
1844 c MNT227 Mental Retardation, Autosomal Recessive 46 25
1845 c MNT337 Mental Retardation, Autosomal Dominant 58 24
1846 c MNT221 Mental Retardation, Autosomal Recessive 44 24
1847 c MNT179 Mental Retardation, Autosomal Dominant 21 24
1848 MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 24
1849 c MNT154 Mental Retardation, Autosomal Recessive 14 24
1850 c MNT327 Mental Retardation, Autosomal Dominant 51 24
1851 c MNT285 Mental Retardation, Autosomal Recessive 58 24
1852 c MNT323 Mental Retardation, Autosomal Dominant 48 24
1853 c MNT329 Mental Retardation, Autosomal Dominant 53 24
1854 c MNT339 Mental Retardation, Autosomal Recessive 66 24
1855 c MNT330 Mental Retardation, Autosomal Dominant 54 23
1856 c MNT286 Mental Retardation, Autosomal Dominant 45 23
1857 c MNT326 Mental Retardation, Autosomal Dominant 50 23
1858 c MNT181 Mental Retardation, Autosomal Recessive 35 23
1859 c MNT338 Mental Retardation, Autosomal Recessive 65 23
1860 c MNT234 Mental Retardation, Autosomal Recessive 48 23
1861 c MNT215 Mental Retardation, Autosomal Recessive 43 22
1862 c MNT336 Mental Retardation, Autosomal Recessive 64 22
1863 c MNT220 Mental Retardation, Autosomal Recessive 45 22
1864 c MNT225 Mental Retardation, Autosomal Recessive 47 22
1865 c MNT279 Mental Retardation, Autosomal Dominant 47 22
1866 c MNT162 Mental Retardation, Autosomal Recessive 24 22
1867 c MNT278 Mental Retardation, Autosomal Dominant 46 21
1868 c MNT275 Mental Retardation, Autosomal Recessive 60 21
1869 c MNT151 Mental Retardation, Autosomal Recessive 18 21
1870 c MNT263 Mental Retardation, Autosomal Recessive 51 21
1871 c MNT172 Mental Retardation, Autosomal Recessive 25 21
1872 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1873 c MNT335 Mental Retardation, Autosomal Recessive 63 21
1874 c MNT165 Mental Retardation, Autosomal Recessive 28 21
1875 c MNT264 Mental Retardation, Autosomal Recessive 52 21
1876 c MNT163 Mental Retardation, Autosomal Recessive 30 20
1877 c MNT182 Mental Retardation, Autosomal Recessive 19 20
1878 c MNT277 Mental Retardation, Autosomal Recessive 54 20
1879 c MNT281 Mental Retardation, Autosomal Recessive 59 20
1880 c MNT243 Mental Retardation, Autosomal Recessive 50 20
1881 c MNT170 Mental Retardation, Autosomal Recessive 23 20
1882 c MNT167 Mental Retardation, Autosomal Recessive 16 20
1883 c MNT180 Mental Retardation, Autosomal Recessive 33 20
1884 c MNT284 Mental Retardation, Autosomal Recessive 56 20
1885 c MNT161 Mental Retardation, Autosomal Recessive 29 19
1886 BLD065 Blue Diaper Syndrome 19
1887 c MNT160 Mental Retardation, Autosomal Recessive 31 18
1888 c ATS394 Autosomal Dominant Mental Retardation 55 11
1889 P HYP607 Hypercholesterolemia, Familial 81
1890 P MTC003 Metachromatic Leukodystrophy 70
1891 ABT001 Abetalipoproteinemia 67
1892 P CRN037 Craniosynostosis 66
1893 SND001 Sandhoff Disease 65
1894 P LBR001 Leber Congenital Amaurosis 65
1895 P CHR071 Charcot-Marie-Tooth Disease 65
1896 c LPM012 Lipomatosis, Multiple 65
1897 MNK001 Menkes Disease 64
1898 HYP020 Hyperprolactinemia 63
1899 P HRM001 Hermansky-Pudlak Syndrome 63
1900 P GLL020 Gallbladder Disease 62
1901 P HYP370 Hypokalemic Periodic Paralysis, Type 1 60
1902 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
1903 HYP190 Hypoalphalipoproteinemia, Primary 60
1904 WLK001 Walker-Warburg Syndrome 59
1905 LBR002 Leber Hereditary Optic Neuropathy 58
1906 c NMN013 Niemann-Pick Disease, Type a 57
1907 GLB001 Gilbert Syndrome 57
1908 MVL001 Mevalonic Aciduria 57
1909 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1910 P HYP097 Hyperekplexia 56
1911 P PRG047 Progressive Familial Intrahepatic Cholestasis 55
1912 PSD014 Pseudopseudohypoparathyroidism 55
1913 c OPT053 Optic Atrophy 1 55
1914 c PTT057 Pituitary Adenoma 4, Acth-Secreting 54
1915 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 54
1916 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 54
1917 c ALB009 Albinism, Oculocutaneous, Type Ia 54
1918 RNL024 Renal Glucosuria 54
1919 RNL051 Renal Cysts and Diabetes Syndrome 53
1920 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 53
1921 c ALB021 Albinism, Oculocutaneous, Type Ii 53
1922 c DMN023 Diamond-Blackfan Anemia 1 53
1923 ARG007 Argininemia 53
1924 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 53
1925 P ACT010 Acth-Secreting Pituitary Adenoma 52
1926 WRN002 Wernicke-Korsakoff Syndrome 52
1927 c NMN014 Niemann-Pick Disease, Type C2 52
1928 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 52
1929 CRB151 Cerebral Creatine Deficiency Syndrome 1 51
1930 ALB001 Albright's Hereditary Osteodystrophy 51
1931 P HMC002 Homocystinuria 51
1932 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50
1933 P FML068 Familial Hypocalciuric Hypercalcemia 50
1934 PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 50
1935 c ERY048 Erythrocytosis, Familial, 2 50
1936 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
1937 DRR016 Diarrhea 2, with Microvillus Atrophy 49
1938 SBL008 Sea-Blue Histiocyte Disease 48
1939 c HRD039 Hereditary Amyloidosis 48
1940 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 48
1941 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
1942 c ALB010 Albinism, Oculocutaneous, Type Ib 47
1943 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
1944 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 46
1945 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
1946 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
1947 P OCL001 Ocular Albinism 45
1948 GLT007 Glutathione Synthetase Deficiency 45
1949 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 45
1950 MSC077 Muscle Eye Brain Disease 45
1951 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
1952 c GLL024 Gallbladder Disease 1 45
1953 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
1954 c GM1005 Gm1-Gangliosidosis, Type Ii 45
1955 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
1956 P PRM001 Primary Cutaneous Amyloidosis 44
1957 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 44
1958 c CRN278 Craniosynostosis 1 44
1959 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1960 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 44
1961 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 44
1962 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
1963 PRL019 Prolidase Deficiency 43
1964 c FML015 Familial Nephrotic Syndrome 43
1965 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
1966 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
1967 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 40
1968 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 40
1969 PYR037 Pyruvate Carboxylase Deficiency 40
1970 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
1971 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 40
1972 PRM237 Primary Hypomagnesemia 39
1973 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 39
1974 CRD170 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 39
1975 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 39
1976 P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 39
1977 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39
1978 GCH018 Gaucher Disease, Perinatal Lethal 38
1979 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 38
1980 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 38
1981 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
1982 P CTR177 Citrullinemia, Type Ii, Adult-Onset 37
1983 c NPH070 Nephrotic Syndrome, Type 6 37
1984 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
1985 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 37
1986 c HYP534 Hypomagnesemia 3, Renal 37
1987 BJR001 Bjornstad Syndrome 36
1988 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 36
1989 c PRK085 Parkinson Disease 1, Autosomal Dominant 36
1990 PLV001 Pelvic Lipomatosis 35
1991 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
1992 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 35
1993 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
1994 c PNT045 Pontocerebellar Hypoplasia, Type 1a 35
1995 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 35
1996 c GM1006 Gm1-Gangliosidosis, Type Iii 34
1997 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 34
1998 INF129 Infantile Cerebellar-Retinal Degeneration 33
1999 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
2000 IMM080 Immunodeficiency 23 31
2001 CKS001 Ck Syndrome 31
2002 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 31
2003 DFN350 Deafness, Aminoglycoside-Induced 31
2004 c CRN277 Craniosynostosis 2 31
2005 c NPH072 Nephrotic Syndrome, Type 7 30
2006 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 30
2007 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
2008 HYP827 Hypomagnesemia 5, Renal, with or Without Ocular Involvement 29
2009 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
2010 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
2011 HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 29
2012 c CRN281 Craniosynostosis 7 29
2013 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
2014 c HYP699 Hyperekplexia 1 29
2015 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 27
2016 c PRR020 Perrault Syndrome 1 27
2017 c CRN217 Craniosynostosis 3 26
2018 c GLL027 Gallbladder Disease 4 26
2019 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 26
2020 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 26
2021 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 25
2022 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
2023 ART103 Arthrogryposis, Mental Retardation, and Seizures 25
2024 c FML249 Familial Amyloidosis, Finnish Type 24
2025 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 24
2026 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 24
2027 c OPT024 Optic Atrophy 5 24
2028 c HYP813 Hyperuricemic Nephropathy, Familial Juvenile, 2 24
2029 c CRN216 Craniosynostosis 5 24
2030 c OPT065 Optic Atrophy 9 24
2031 c CRN221 Craniosynostosis 4 23
2032 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
2033 GLT014 Glutathionuria 23
2034 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
2035 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 22
2036 c OPT023 Optic Atrophy 2 22
2037 CNZ009 Coenzyme Q10 Deficiency, Primary, 5 22
2038 c CRN256 Craniosynostosis 6 22
2039 P PRM016 Primary Optic Atrophy 22
2040 HRL006 Harel-Yoon Syndrome 22
2041 c OPT025 Optic Atrophy 6 21
2042 c OPT060 Optic Atrophy 8 21
2043 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 21
2044 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
2045 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 20
2046 c ERY031 Erythrocytosis, Familial, 3 20
2047 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
2048 c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 20
2049 c ERY032 Erythrocytosis, Familial, 4 18
2050 c ERY063 Erythrocytosis, Familial, 5 17
2051 MTC179 Mitochondrial Dna-Related Cardiomyopathy and Hearing Loss 16
2052 c OPT059 Optic Atrophy 4 16
2053 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
2054 c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 14
2055 c GLL025 Gallbladder Disease 2 12
2056 c GLL026 Gallbladder Disease 3 12
2057 c FCS008 Fucosidosis Type 1 10
2058 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
2059 c CRN093 Craniosynostosis Autosomal Dominant 7
2060 HYP492 Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 6
2061 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
2062 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
2063 P CTS001 Cutis Laxa 58
2064 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
2065 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
2066 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
2067 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
2068 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
2069 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
2070 c LTB003 Ltbp4-Related Cutis Laxa 17
2071 INS024 Insulin-Like Growth Factor I 82
2072 WLS001 Wilson Disease 70
2073 CHD001 Chediak-Higashi Syndrome 67
2074 P PRP003 Porphyria Cutanea Tarda 66
2075 P MPL001 Maple Syrup Urine Disease 64
2076 KRN002 Kearns-Sayre Syndrome 63
2077 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
2078 P CRG003 Crigler-Najjar Syndrome, Type I 61
2079 MYC079 Myoclonic Epilepsy of Lafora 61
2080 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
2081 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
2082 c ANM038 Anemia, Autoimmune Hemolytic 59
2083 c GM1004 Gm1-Gangliosidosis, Type I 56
2084 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 56
2085 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2086 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
2087 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
2088 c ALM001 Al Amyloidosis 55
2089 P SJG002 Sjogren-Larsson Syndrome 55
2090 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
2091 c GLY007 Glycogen Storage Disease Iv 54
2092 PRN001 Purine Nucleoside Phosphorylase Deficiency 52
2093 P AMY084 Amyloidosis, Finnish Type 52
2094 AMY082 Amyloidosis, Familial Visceral 51
2095 BRN045 Brunner Syndrome 50
2096 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 49
2097 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
2098 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 44
2099 P SDR003 Sideroblastic Anemia 43
2100 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
2101 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 42
2102 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 38
2103 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
2104 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 37
2105 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
2106 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
2107 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
2108 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 26
2109 VSC044 Visceral Myopathy 52
2110 LPD016 Lipoid Proteinosis of Urbach and Wiethe 66
2111 c TYR012 Tyrosinemia, Type I 55
2112 FNC009 Fanconi-Bickel Syndrome 53
2113 c SPN314 Spinocerebellar Ataxia 10 51
2114 ATR002 Atransferrinemia 50
2115 c SPN309 Spinocerebellar Ataxia 6 49
2116 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
2117 c SPN097 Spinocerebellar Ataxia 23 45
2118 c SPN290 Spinocerebellar Ataxia 15 43
2119 c SPN305 Spinocerebellar Ataxia 11 42
2120 c SPN265 Spinocerebellar Ataxia 36 42
2121 c SPN283 Spinocerebellar Ataxia 37 41
2122 c SPN304 Spinocerebellar Ataxia 8 41
2123 c SPN106 Spinocerebellar Ataxia 5 41
2124 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
2125 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
2126 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
2127 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
2128 c SPN094 Spinocerebellar Ataxia 18 37
2129 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
2130 c SPN095 Spinocerebellar Ataxia 19 35
2131 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
2132 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
2133 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
2134 c SPN266 Spinocerebellar Ataxia 35 34
2135 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
2136 c SPN105 Spinocerebellar Ataxia 4 33
2137 c SPN383 Spinocerebellar Ataxia 42 32
2138 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
2139 c SPN104 Spinocerebellar Ataxia 34 31
2140 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
2141 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
2142 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
2143 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
2144 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
2145 c SPN372 Spinocerebellar Ataxia 43 27
2146 c SPN420 Spinocerebellar Ataxia 46 25
2147 c OPT064 Optic Atrophy 11 24
2148 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
2149 c SPN427 Spinocerebellar Ataxia 48 24
2150 c HRM005 Hermansky-Pudlak Syndrome 1 54
2151 c HRM008 Hermansky-Pudlak Syndrome 5 52
2152 c HRM006 Hermansky-Pudlak Syndrome 3 51
2153 ARM001 Aromatase Deficiency 51
2154 c HRM009 Hermansky-Pudlak Syndrome 6 44
2155 c HRM007 Hermansky-Pudlak Syndrome 4 38
2156 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
2157 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
2158 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
2159 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
2160 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
2161 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
2162 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
2163 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
2164 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
2165 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
2166 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
2167 c SPS039 Spastic Paraplegia 5a 33
2168 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
2169 c SPS091 Spastic Paraplegia 4 31
2170 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
2171 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
2172 c SPS025 Spastic Paraplegia 15 28
2173 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 27
2174 c SPS041 Spastic Paraplegia 6 25
2175 c SPS037 Spastic Paraplegia 31 22
2176 c SPS038 Spastic Paraplegia 39 19
2177 c SPN294 Spinocerebellar Ataxia 1 59
2178 P SPN301 Spinocerebellar Ataxia 2 59
2179 c SPN291 Spinocerebellar Ataxia 7 53
2180 c SPN296 Spinocerebellar Ataxia 17 48
2181 c SPN311 Spinocerebellar Ataxia 13 46
2182 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
2183 c SPN101 Spinocerebellar Ataxia 29 35
2184 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
2185 c SPN096 Spinocerebellar Ataxia 21 33
2186 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
2187 P ENC018 Encephalopathy 65
2188 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 20
2189 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 37
2190 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
2191 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
2192 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
2193 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 23
2194 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
2195 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
2196 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
2197 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
2198 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
2199 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
2200 c SPS092 Spastic Paraplegia 11 29
2201 c SPS020 Spastic Paraplegia 1 25
2202 P OCL002 Oculocutaneous Albinism 54
2203 c HRD010 Hereditary Spastic Paraplegia 68
2204 c SPS042 Spastic Paraplegia 9 23
2205 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 29
2206 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
2207 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
2208 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 27
2209 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
2210 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
2211 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
2212 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
2213 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
2214 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
2215 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
2216 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 24
2217 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 57
2218 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 51
2219 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
2220 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 30
2221 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29
2222 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 25
2223 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 25
2224 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23



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