Search results for mmut

58 hits were found for mmut

# Family MCID Name MIFTS Score
1
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 51 68.797
2
P MTH008 Methylmalonic Acidemia 52 38.313
3
ISL099 Isolated Methylmalonic Acidemia 35 32.312
4
NRL016 Neural Tube Defects 81 12.525
5
P HMC002 Homocystinuria 52 10.553
6
P PLY014 Polycystic Kidney Disease 71 10.227
7
c FNC027 Fanconi Anemia, Complementation Group a 81 10.227
8
c PRX091 Peroxisome Biogenesis Disorder 8a 28 8.808
9
c PRX062 Peroxisome Biogenesis Disorder 8b 27 8.808
10
ORG002 Organic Acidemia 43 8.356
11
AMN002 Amino Acid Metabolic Disorder 38 7.979
12
P MPL001 Maple Syrup Urine Disease 69 7.232
13
MTH077 Methylmalonic Aciduria, Cbla Type 45 7.232
14
P RTN008 Retinitis Pigmentosa 79 7.232
15
BTN003 Biotinidase Deficiency 62 7.232
16
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 7.232
17
PRP001 Propionic Acidemia 65 7.232
18
ISV001 Isovaleric Acidemia 54 7.232
19
P VTM003 Vitamin Metabolic Disorder 24 7.232
20
VTM002 Vitamin B12 Deficiency 48 7.232
21
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 38 7.232
23
IMM172 Immunodeficiency 34 28 7.232
24
MGL001 Megaloblastic Anemia 59 7.232
25
c NGH025 Night Blindness, Congenital Stationary, Type 2a 44 7.232
26
ORL003 Oral Tuberculosis 36 7.232
27
NNT017 Neonatal Adrenoleukodystrophy 52 1.577
28
P ZLL001 Zellweger Syndrome 65 1.577
29
c INH020 Inherited Metabolic Disorder 47 1.014
30
MTH078 Methylmalonic Aciduria, Cblb Type 47 0.936
31
P INB001 Inborn Amino Acid Metabolism Disorder 10 0.748
32
AMN012 Aminoacidopathies 19 0.748
33
P BRS047 Breast Cancer 97 0.551
34
P OVR042 Ovarian Cancer 88 0.551
35
P LNG064 Lung Cancer Susceptibility 3 70 0.551
36
P PNC035 Pancreatic Cancer 86 0.551
37
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.546
38
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.546
39
P LNG021 Lung Occult Small Cell Carcinoma 20 0.546
40
P HYP265 Hypotonia 42 0.377
41
MTB004 Metabolic Acidosis 48 0.326
42
PHN003 Phenylketonuria 76 0.266
43
OCL069 Ocular Motor Apraxia 57 0.188
44
HMC014 Homocysteinemia 52 0.188
45
PRT251 Proteinuria, Chronic Benign 58 0.188
46
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 0.188
47
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36 0.188
48
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.188
49
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 0.188
50
HYP003 Hypermethioninemia 51 0.188
51
P DYS154 Dystonia 64 0.188
52
P CTR177 Citrullinemia, Type Ii, Adult-Onset 55 0.188
53
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.188
54
TTR005 Tetrahydrobiopterin Deficiency 48 0.188
55
HYP141 Hyperphenylalaninemia 42 0.188
56
ADN090 Adenosylcobalamin Deficiency 35 0.188
57
ACY011 Acyl-Coa Dehydrogenase Deficiency 31 0.188
58
MLD011 Mild Hyperphenylalaninemia 24 0.188
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