Search results for ethe1

20 hits were found for ethe1

# Family MCID Name MIFTS Score
1
ENC055 Encephalopathy, Ethylmalonic 53 17.678
2
P ENC018 Encephalopathy 61 5.263
3
P DRR001 Diarrhea 55 3.262
4
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 3.155
5
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 53 2.231
6
c NMN014 Niemann-Pick Disease, Type C2 51 2.231
7
FMR004 Fumarase Deficiency 51 2.231
8
c MTC059 Mitochondrial Dna Depletion Syndrome 5 50 2.231
9
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 49 2.231
10
MTC005 Mitochondrial Metabolism Disease 49 2.231
11
SLF014 Sulfite Oxidase Deficiency, Isolated 49 2.231
12
P SLF001 Sulfhemoglobinemia 23 2.231
13
P HYP265 Hypotonia 43 0.129
14
P CLR023 Colorectal Cancer 99 0.091
15
P FML011 Familial Adenomatous Polyposis 72 0.091
16
P DYS154 Dystonia 65 0.091
17
P MTC069 Mitochondrial Disorders 56 0.091
18
c INH020 Inherited Metabolic Disorder 47 0.091
19
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.091
20
NCL007 Nuclear Gene-Encoded Leigh Syndrome 22 0.091
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