Search results for HPRT1

24 hits were found for HPRT1

# Family MCID Name MIFTS Score
1
LSC001 Lesch-Nyhan Syndrome 62 18.703
2
KLL014 Kelley-Seegmiller Syndrome 33 15.957
3
GT001 Gout 60 5.556
4
P HYP014 Hyperuricemia 54 4.368
5
P CCK001 Cockayne Syndrome 64 3.907
6
P XRD010 Xeroderma Pigmentosum, Variant Type 62 3.907
7
APL001 Aplastic Anemia 74 3.383
8
PRN001 Purine Nucleoside Phosphorylase Deficiency 53 3.383
9
ADN024 Adenine Phosphoribosyltransferase Deficiency 49 3.383
10
c HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 40 3.383
11
P FNC027 Fanconi Anemia, Complementation Group a 78 2.763
12
CNN005 Connective Tissue Disease 65 2.763
13
IMM174 Immunodeficiency with Hyper-Igm, Type 1 64 2.763
14
TTR005 Tetrahydrobiopterin Deficiency 44 2.763
15
P HYP761 Hypouricemia, Renal, 1 40 2.763
16
P XNT004 Xanthinuria 39 2.763
17
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39 2.763
18
DYS001 Dyskinetic Cerebral Palsy 34 2.763
19
NPH078 Nephrolithiasis, Uric Acid 27 2.763
20
PRN024 Purine-Pyrimidine Metabolic Disorder 24 2.763
21
PSD004 Pseudomembranous Conjunctivitis 24 2.763
22
ATL010 Atlantoaxial Subluxation 21 2.763
23
c HRD048 Hereditary Hyperuricemia 8 2.763
24
c INH020 Inherited Metabolic Disorder 49 1.953
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