Search results for 3-hydroxy-3-methylglutaryl-coa

121 hits were found for 3-hydroxy-3-methylglutaryl-coa

# Family MCID Name MIFTS Score
1
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 49 16.253
2
3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 30 15.570
3
HYP056 Hypoglycemia 66 0.400
4
c HYP836 Hypercholesterolemia, Familial, 1 73 0.310
5
MTB004 Metabolic Acidosis 50 0.283
6
ATS010 Autosomal Recessive Disease 48 0.219
7
OCL069 Ocular Motor Apraxia 51 0.200
8
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.179
9
c FML021 Familial Hypercholesterolemia 66 0.155
10
RYS001 Reye Syndrome 51 0.155
11
c INH020 Inherited Metabolic Disorder 47 0.155
12
ORG002 Organic Acidemia 44 0.155
13
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.127
14
c ATR087 Atrial Standstill 1 75 0.127
15
P HPT021 Hepatitis 67 0.127
16
AND002 Androgen Insensitivity Syndrome 66 0.127
17
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.127
18
P ANR048 Aniridia 1 63 0.127
19
ANR007 Anorexia Nervosa 63 0.127
20
LPD008 Lipid Metabolism Disorder 62 0.127
21
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.127
22
P HYP750 Hypertriglyceridemia, Familial 62 0.127
23
P TRC086 Trichohepatoenteric Syndrome 1 62 0.127
24
NTR005 Nutritional Deficiency Disease 62 0.127
25
FTT001 Fatty Liver Disease 61 0.127
26
P ENC018 Encephalopathy 61 0.127
27
P PNC044 Pancreatitis 61 0.127
28
c ACT027 Acute Pancreatitis 60 0.127
29
ACN002 Acanthosis Nigricans 60 0.127
30
P AXN002 Axenfeld-Rieger Syndrome 59 0.127
31
P MYS005 Myositis 56 0.127
32
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.127
33
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.127
34
THR013 Thoracic Outlet Syndrome 54 0.127
35
c GLL024 Gallbladder Disease 1 53 0.127
36
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.127
37
VTR016 Vater/vacterl Association 50 0.127
38
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 45 0.127
39
P HYP265 Hypotonia 43 0.127
40
VCT001 Vacterl Association 42 0.127
41
c CHR020 Chronic Interstitial Cystitis 37 0.127
42
ATX010 Ataxia Neuropathy Spectrum 34 0.127
43
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.127
44
ALR002 Al-Raqad Syndrome 33 0.127
45
ACT064 Acute Necrotizing Encephalitis 33 0.127
46
P UNP013 Uniparental Disomy of Chromosome 1 24 0.127
47
BLD137 Blood Group--Ahonen 16 0.127
48
DSR078 Disorder of Branched-Chain Amino Acid Metabolism 15 0.127
49
P BRS047 Breast Cancer 97 0.090
50
P ATX030 Ataxia-Telangiectasia 82 0.090
51
STR067 Stroke, Ischemic 81 0.090
52
PHN003 Phenylketonuria 75 0.090
53
c SPN225 Spondyloarthropathy 1 73 0.090
54
P CNR004 Cone-Rod Dystrophy 2 73 0.090
55
P RTN024 Retinoblastoma 73 0.090
56
P KDN018 Kidney Disease 72 0.090
57
P MLT020 Multiple Sclerosis 72 0.090
58
P NRB001 Neuroblastoma 72 0.090
59
P EPL164 Epilepsy 71 0.090
60
c CHR684 Chronic Kidney Disease 70 0.090
61
ADL002 Adult Syndrome 70 0.090
62
P MYP004 Myopathy 70 0.090
63
LYM133 Lymphoma, Hodgkin, Classic 69 0.090
64
P MPL001 Maple Syrup Urine Disease 69 0.090
65
P ANG001 Angelman Syndrome 69 0.090
66
P CRB048 Cerebral Cavernous Malformations 67 0.090
67
CRB039 Cerebrovascular Disease 67 0.090
68
ART001 Arterial Tortuosity Syndrome 66 0.090
69
CHG001 Chagas Disease 66 0.090
70
MVL001 Mevalonic Aciduria 66 0.090
71
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.090
72
BRR014 Barrett Esophagus 65 0.090
73
ATH013 Atherosclerosis Susceptibility 65 0.090
74
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.090
75
c PRC016 Pre-Eclampsia 63 0.090
76
c MLG084 Malignant Fibrous Histiocytoma 63 0.090
77
P CRN300 Coronary Heart Disease 1 63 0.090
78
ATM095 Autoimmune Disease 62 0.090
79
VRL011 Viral Infectious Disease 61 0.090
80
DBT084 Diabetes Mellitus, Ketosis-Prone 60 0.090
81
VSL002 Visual Epilepsy 59 0.090
82
P BRS044 Breast Adenocarcinoma 59 0.090
83
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.090
84
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.090
85
P MTC069 Mitochondrial Disorders 56 0.090
86
P SZR006 Seizure Disorder 56 0.090
87
HPT022 Hepatoblastoma 56 0.090
88
c FML035 Familial Hyperlipidemia 55 0.090
89
P DRR001 Diarrhea 55 0.090
90
ISV001 Isovaleric Acidemia 55 0.090
91
P ALP106 Alport Syndrome 1, X-Linked 55 0.090
92
HMZ003 Homozygous Familial Hypercholesterolemia 55 0.090
93
P STS003 Sitosterolemia 54 0.090
94
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.090
95
c FML008 Familial Retinoblastoma 53 0.090
96
c MCR113 Microvascular Complications of Diabetes 3 52 0.090
97
P LCT001 Lactic Acidosis 51 0.090
98
MTC005 Mitochondrial Metabolism Disease 49 0.090
99
HLX001 Helix Syndrome 47 0.090
100
c MCR120 Microvascular Complications of Diabetes 7 47 0.090
101
P HYD033 Hydrolethalus Syndrome 1 47 0.090
102
HPT025 Hepatic Lipase Deficiency 47 0.090
103
MNC019 Monocarboxylate Transporter 1 Deficiency 47 0.090
104
c DRR009 Diarrhea 6 46 0.090
105
c PCH010 Pachyonychia Congenita 3 44 0.090
106
ACN001 Acinar Cell Carcinoma 44 0.090
107
CYT002 Cytokine Deficiency 42 0.090
108
c MCR130 Microvascular Complications of Diabetes 6 41 0.090
109
c MCR133 Microvascular Complications of Diabetes 4 41 0.090
110
HYP141 Hyperphenylalaninemia 39 0.090
111
CRB009 Cerebritis 37 0.090
112
PPL052 Papillomatosis, Confluent and Reticulated 33 0.090
113
CND006 Candida Glabrata 32 0.090
114
CVR010 Cavernous Malformation 30 0.090
115
MYC088 Mycobacterium Avium Complex Infections 29 0.090
116
c CLB022 Coloboma, Ocular, Autosomal Recessive 28 0.090
117
NRM022 Neurometabolic Disease 25 0.090
118
GNT018 Gianotti Crosti Syndrome 23 0.090
119
BLD165 Blood Group, Colton System 20 0.090
120
AND005 Androgen Insensitivity Syndrome, Mild 19 0.090
121
c CRN172 Coronary Heart Disease 3 19 0.090
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