Search results for qdpr

22 hits were found for qdpr

# Family MCID Name MIFTS Score
1
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 28 17.142
2
PHN003 Phenylketonuria 72 4.851
3
HYP141 Hyperphenylalaninemia 49 4.428
4
CNT098 Central Core Disease 65 3.960
5
MLG056 Malignant Hyperthermia 58 3.960
6
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 3.960
7
TTR005 Tetrahydrobiopterin Deficiency 41 3.478
8
KRN002 Kearns-Sayre Syndrome 61 3.430
9
KRT002 Keratomalacia 52 3.430
10
HST006 Histidinemia 43 3.430
11
P MYP087 Myopathy, Tubular Aggregate, 1 42 3.430
12
NTV001 Native American Myopathy 40 3.430
13
CRB070 Cerebral Folate Deficiency 39 3.430
14
CLS049 Classic Phenylketonuria 32 3.430
15
c HYP606 Hypokalemic Periodic Paralysis, Type 2 31 3.430
16
GTP003 Gtp Cyclohydrolase I Deficiency 28 3.430
17
ADR003 Adrenal Neuroblastoma 28 3.430
18
HST007 Histidine Metabolism Disease 27 3.430
19
MLD011 Mild Hyperphenylalaninemia 27 3.430
20
HYP264 Hypertonia 39 2.800
21
FML036 Familial Periodic Paralysis 39 2.800
22
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 29 0.089
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