Search results for qdpr

21 hits were found for qdpr

# Family MCID Name MIFTS Score
1
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 30 17.249
2
PHN003 Phenylketonuria 72 4.910
3
HYP141 Hyperphenylalaninemia 48 4.482
4
CNT098 Central Core Disease 66 3.472
5
MLG056 Malignant Hyperthermia 57 3.472
6
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 3.472
7
TTR005 Tetrahydrobiopterin Deficiency 41 2.892
8
KRN002 Kearns-Sayre Syndrome 57 2.835
9
KRT002 Keratomalacia 49 2.835
10
HST006 Histidinemia 44 2.835
11
P MYP087 Myopathy, Tubular Aggregate, 1 43 2.835
12
NTV001 Native American Myopathy 42 2.835
13
FML036 Familial Periodic Paralysis 41 2.835
14
c HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 37 2.835
15
CRB070 Cerebral Folate Deficiency 37 2.835
16
HYP264 Hypertonia 35 2.835
17
CLS049 Classic Phenylketonuria 35 2.835
18
c HYP606 Hypokalemic Periodic Paralysis, Type 2 32 2.835
19
HST007 Histidine Metabolism Disease 28 2.835
20
MLD011 Mild Hyperphenylalaninemia 26 2.835
21
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 33 0.090
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