Search results for 7-dehydrocholesterol

235 hits were found for 7-dehydrocholesterol

# Family MCID Name MIFTS Score
1
SMT004 Smith-Lemli-Opitz Syndrome 69 49.663
2
c OPT051 Opitz Gbbb Syndrome, Type I 45 11.638
3
LTH002 Lathosterolosis 38 3.881
4
RCK004 Rickets 64 3.181
5
P HLP001 Holoprosencephaly 68 2.087
6
P MLN008 Melanoma 75 2.002
7
P RTN016 Retinal Degeneration 52 1.984
8
CHR619 Chromosome 2q35 Duplication Syndrome 64 1.888
9
CRB011 Cerebrotendinous Xanthomatosis 64 1.861
10
XNT003 Xanthomatosis 48 1.861
11
CLF027 Cleft Palate, Isolated 64 1.777
12
ACD008 Acid-Labile Subunit Deficiency 52 1.735
13
DSM002 Desmosterolosis 39 1.539
14
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.514
15
P PLY006 Polydactyly 58 1.462
16
c ATS007 Autism Spectrum Disorder 71 1.403
17
PRM236 Primary Biliary Cholangitis 62 1.403
18
P PTS002 Ptosis 52 1.371
19
P CHN044 Chondrodysplasia Punctata Syndrome 43 1.371
20
ATS010 Autosomal Recessive Disease 42 1.368
21
HRT011 Heart Septal Defect 49 1.335
22
P ATR001 Atrioventricular Septal Defect 54 1.296
23
P NRB001 Neuroblastoma 66 1.296
24
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 1.252
25
P STS003 Sitosterolemia 53 1.252
26
PLY150 Polykaryocytosis Inducer 29 1.199
27
P ACN011 Acne 55 1.199
28
ALL029 Allergic Disease 61 1.199
29
OLG003 Oligohydramnios 50 1.199
30
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.130
31
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.964
32
P SKN015 Skin Carcinoma 71 0.742
33
P MCR010 Microcephaly 59 0.723
34
OST011 Osteomalacia 52 0.704
35
c NRB010 Neuroblastoma 1 59 0.654
36
SKN016 Skin Disease 63 0.469
37
P CTR002 Cataract 59 0.439
38
P HRS035 Hirschsprung Disease 1 66 0.406
39
P BND020 Bone Disease 60 0.406
40
P HYP069 Hyperparathyroidism 62 0.406
41
c SCN007 Secondary Hyperparathyroidism 50 0.406
42
P HYP265 Hypotonia 42 0.406
43
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 0.371
44
c HYP836 Hypercholesterolemia, Familial, 1 73 0.371
45
CHL068 Cholestasis 61 0.371
46
PYL006 Pyloric Stenosis 48 0.371
47
c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 47 0.332
48
ATS009 Autosomal Genetic Disease 26 0.332
49
CRP032 Corpus Callosum, Agenesis of 49 0.332
50
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 56 0.332
51
P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 48 0.332
52
c STS010 Sitosterolemia 1 46 0.332
53
BNR002 Bone Resorption Disease 47 0.332
54
PSD009 Pseudohermaphroditism 46 0.332
55
PST011 Pustulosis of Palm and Sole 52 0.332
56
BP1002 Bap1 Tumor Predisposition Syndrome 42 0.332
57
P PSR002 Psoriasis 63 0.332
58
ING001 Inguinal Hernia 59 0.287
59
DWN001 Down Syndrome 70 0.287
60
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.287
61
P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 46 0.287
62
c PRM093 Premature Ovarian Failure 7 47 0.287
63
ATM095 Autoimmune Disease 61 0.287
64
P VTM036 Vitamin D-Dependent Rickets 40 0.287
65
EXT006 Extrahepatic Cholestasis 41 0.287
66
OST015 Osteochondrodysplasia 60 0.287
67
P ICH004 Ichthyosis 56 0.287
68
LVR012 Liver Cirrhosis 62 0.287
69
P HYP086 Hypothyroidism 68 0.287
70
CLB002 Clubfoot 50 0.287
71
P HYP040 Hypospadias 51 0.287
72
ALC009 Alcoholic Liver Cirrhosis 54 0.287
73
P SZR006 Seizure Disorder 69 0.287
74
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 20 0.287
75
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.235
76
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.235
77
c FTL070 Fetal Akinesia Deformation Sequence 2 36 0.235
78
c NMN014 Niemann-Pick Disease, Type C2 49 0.235
79
ATH013 Atherosclerosis Susceptibility 63 0.235
80
P OST002 Osteoporosis 76 0.235
81
OTT002 Otitis Media 70 0.235
82
HYD038 Hydrops Fetalis, Nonimmune 57 0.235
83
GST092 Gastroesophageal Reflux 59 0.235
84
P PRR016 Pierre Robin Syndrome 50 0.235
85
AGN016 Aging 53 0.235
86
c LYM150 Lymphatic Malformation 7 43 0.235
87
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.235
88
MND023 Mend Syndrome 49 0.235
89
P STR020 Strabismus 56 0.235
90
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 0.235
91
HYP748 Hypertelorism 46 0.235
92
TTH002 Tooth Agenesis 61 0.235
93
P CRB045 Cerebellar Hypoplasia 40 0.235
94
HYP080 Hypogonadism 49 0.235
95
P MVM001 Movement Disease 61 0.235
96
P URN019 Urinary Tract Infection 48 0.235
97
c HPT001 Hepatitis C 61 0.235
98
P PLY019 Polyneuropathy 52 0.235
99
CNS004 Constipation 56 0.235
100
RNL011 Renal Osteodystrophy 48 0.235
101
P HYP024 Hypoparathyroidism 55 0.235
102
PRX001 Peroxisomal Disease 46 0.235
103
MCH006 Mechanical Strabismus 40 0.235
104
CLF036 Cleft Tongue 15 0.235
105
FTT001 Fatty Liver Disease 61 0.235
106
ATP014 Atp8b1 Deficiency 28 0.235
107
PLM068 Pulmonary Vein Stenosis 39 0.235
108
ALB014 Alobar Holoprosencephaly 45 0.235
109
DYS073 Dysphagia 53 0.235
110
PRM329 Premature Aging 36 0.235
111
P PRV006 Pervasive Developmental Disorder 52 0.166
112
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.166
113
PRT251 Proteinuria, Chronic Benign 58 0.166
114
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.166
115
PSR001 Psoriatic Arthritis 61 0.166
116
P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 41 0.166
117
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.166
118
P VNM004 Van Maldergem Syndrome 29 0.166
119
DCT002 Ductal Carcinoma in Situ 58 0.166
120
P INF037 Inflammatory Bowel Disease 53 0.166
121
P RHM011 Rheumatoid Arthritis 81 0.166
122
c WLM013 Wilms Tumor 1 65 0.166
123
ACT238 Acth Deficiency, Isolated 52 0.166
124
P ATS364 Autism 72 0.166
125
ANS023 Anus, Imperforate 56 0.166
126
GRN013 Greenberg Dysplasia 55 0.166
127
CTR172 Citrullinemia, Classic 64 0.166
128
c SYS001 Systemic Lupus Erythematosus 85 0.166
129
NRL016 Neural Tube Defects 80 0.166
130
c DWL002 Dowling-Degos Disease 1 58 0.166
131
P RTN024 Retinoblastoma 72 0.166
132
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.166
133
P MRN003 Marinesco-Sjogren Syndrome 51 0.166
134
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 42 0.166
135
TLC001 Telecanthus 34 0.166
136
ALC007 Alcohol Dependence 65 0.166
137
OST159 Osteogenic Sarcoma 66 0.166
138
INS024 Insulin-Like Growth Factor I 77 0.166
139
ICH054 Ichthyosis, X-Linked 51 0.166
140
P CLR023 Colorectal Cancer 100 0.166
141
P DRM053 Dermatitis, Atopic 65 0.166
142
c VNM003 Van Maldergem Syndrome 1 50 0.166
143
c PSR017 Psoriasis 2 53 0.166
144
P CTR177 Citrullinemia, Type Ii, Adult-Onset 56 0.166
145
WLS001 Wilson Disease 70 0.166
146
P PTN014 Patent Ductus Arteriosus 1 59 0.166
147
DSS032 Disease by Infectious Agent 55 0.166
148
HYP017 Hypophosphatemia 49 0.166
149
HYP025 Hyperphosphatemia 47 0.166
150
c HPT073 Hepatitis C Virus 70 0.166
151
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.166
152
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 0.166
153
c 46X055 46,xy Sex Reversal 3 40 0.166
154
CYN002 Cyanosis, Transient Neonatal 43 0.166
155
ANT003 Antley-Bixler Syndrome 50 0.166
156
P TYS001 Tay-Sachs Disease 69 0.166
157
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.166
158
ARC025 Arachnoid Cysts, Intracranial 37 0.166
159
c TYP008 Type 1 Diabetes Mellitus 77 0.166
160
P HYP750 Hypertriglyceridemia, Familial 61 0.166
161
c VNM002 Van Maldergem Syndrome 2 35 0.166
162
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.166
163
EPC005 Epicanthus 35 0.166
164
P PLG001 Pelger-Huet Anomaly 51 0.166
165
TQP001 Taqi Polymorphism 29 0.166
166
MVL001 Mevalonic Aciduria 65 0.166
167
PRM004 Primary Amebic Meningoencephalitis 27 0.166
168
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.166
169
c XLN229 X-Linked Chondrodysplasia Punctata 2 46 0.166
170
P MCL001 Mucolipidosis 49 0.166
171
NNL006 Non-Alcoholic Steatohepatitis 54 0.166
172
P VNT002 Ventricular Septal Defect 58 0.166
173
P LKM002 Leukemia 65 0.166
174
BLR008 Bilirubin Metabolic Disorder 57 0.166
175
c BSL007 Basal Cell Carcinoma 67 0.166
176
BRN031 Brain Germinoma 31 0.166
177
CLC006 Calcinosis 47 0.166
178
P DSR090 Disorder of Sexual Development 45 0.166
179
P MLN007 Male Infertility 56 0.166
180
CRT020 Cortisone Reductase Deficiency 36 0.166
181
P ECL001 Eclampsia 52 0.166
182
P CNT037 Central Nervous System Germinoma 31 0.166
183
LPD008 Lipid Metabolism Disorder 61 0.166
184
ISC004 Ischemia 61 0.166
185
DBL002 Double Outlet Right Ventricle 56 0.166
186
P HPT021 Hepatitis 68 0.166
187
P LTR001 Lateral Sclerosis 57 0.166
188
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.166
189
P EPL164 Epilepsy 70 0.166
190
c FML021 Familial Hypercholesterolemia 71 0.166
191
MNC001 Monocular Esotropia 30 0.166
192
PLM001 Pulmonary Tuberculosis 69 0.166
193
GNG013 Gingivitis 59 0.166
194
LYS002 Lysosomal Storage Disease 51 0.166
195
GRM004 Germinoma 40 0.166
196
P BRS044 Breast Adenocarcinoma 58 0.166
197
PLM010 Pulmonary Edema 54 0.166
198
MNN009 Meningoencephalitis 47 0.166
199
AMN003 Amnestic Disorder 53 0.166
200
P HYD006 Hydrocephalus 62 0.166
201
KRT002 Keratomalacia 54 0.166
202
c PRC016 Pre-Eclampsia 64 0.166
203
PRM013 Premature Menopause 57 0.166
204
P THR014 Thrombocytopenia 66 0.166
205
P HYP009 Hypertrophic Pyloric Stenosis 41 0.166
206
P DMN002 Dementia 65 0.166
207
P ART022 Arthritis 70 0.166
208
P INF032 Infertility 60 0.166
209
SCR011 Scrapie 39 0.166
210
P PRN023 Prion Disease 60 0.166
211
c INH020 Inherited Metabolic Disorder 47 0.166
212
P LCT001 Lactic Acidosis 50 0.166
213
ACQ007 Acquired Immunodeficiency Syndrome 58 0.166
214
HYP057 Hypervitaminosis D 37 0.166
215
P ZLL001 Zellweger Syndrome 65 0.166
216
P MSC003 Muscular Atrophy 52 0.166
217
P PRD008 Periodontitis 63 0.166
218
CRT028 Cor Triatriatum 25 0.166
219
INT007 Intermediate Coronary Syndrome 53 0.166
220
P LPS004 Lupus Erythematosus 61 0.166
221
P INS002 in Situ Carcinoma 52 0.166
222
ALL014 Allergic Encephalomyelitis 34 0.166
223
CLP002 Colpocephaly 22 0.166
224
GRM010 Germ Cells Tumors 33 0.166
225
P ALP008 Alopecia 53 0.166
226
PNS014 Penis Agenesis 38 0.166
227
EST005 Esotropia 43 0.166
228
P CHR342 Chiari Malformation 41 0.166
229
CHR178 Chromosomal Triplication 33 0.166
230
MCR103 Microtia 40 0.166
231
P SYN140 Syndrome with 46,xy Disorder of Sex Development 23 0.166
232
P LTH050 Lethal Chondrodysplasia 14 0.166
233
HPS001 Hip Subluxation 16 0.166
234
P CRB088 Cerebral Atrophy 32 0.166
235
ADR057 Adrenogenital Syndrome 31 0.166
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