Search results for qdpr

20 hits were found for qdpr

# Family MCID Name MIFTS Score
1
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 34 17.418
2
PHN003 Phenylketonuria 73 4.526
3
HYP141 Hyperphenylalaninemia 43 4.526
4
P MPL001 Maple Syrup Urine Disease 66 3.506
5
P MLG056 Malignant Hyperthermia 60 3.506
6
P HYP370 Hypokalemic Periodic Paralysis, Type 1 59 3.506
7
TTR005 Tetrahydrobiopterin Deficiency 44 2.920
8
KRT002 Keratomalacia 55 2.862
9
P MYP087 Myopathy, Tubular Aggregate, 1 48 2.862
10
HST006 Histidinemia 46 2.862
11
CLS049 Classic Phenylketonuria 43 2.862
12
FML036 Familial Periodic Paralysis 41 2.862
13
NTV001 Native American Myopathy 40 2.862
14
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 38 2.862
15
CNT009 Central Core Myopathy 31 2.862
16
CRB070 Cerebral Folate Deficiency 30 2.862
17
c HYP606 Hypokalemic Periodic Paralysis, Type 2 30 2.862
18
MLD011 Mild Hyperphenylalaninemia 27 2.862
19
HST007 Histidine Metabolism Disease 23 2.862
20
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 36 0.091
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