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