Search results for HPRT1

29 hits were found for HPRT1

# Family MCID Name MIFTS Score
1
LSC001 Lesch-Nyhan Syndrome 61 16.354
2
c HPR001 Hprt-Related Gout 32 13.726
3
P GT001 Gout 58 5.320
4
P CCK001 Cockayne Syndrome 61 4.183
5
P NPH009 Nephrolithiasis 60 4.183
6
P XRD010 Xeroderma Pigmentosum, Variant Type 58 4.183
7
P HYP014 Hyperuricemia 50 4.183
8
P APL001 Aplastic Anemia 75 3.741
9
ADN024 Adenine Phosphoribosyltransferase Deficiency 51 3.741
10
c HYP623 Hyperuricemic Nephropathy, Familial Juvenile 1 31 3.741
11
NPH078 Nephrolithiasis, Uric Acid 28 3.741
12
c GTH001 Gout, Hprt1-Related 8 3.285
13
c FNC027 Fanconi Anemia, Complementation Group a 71 3.240
14
CNN005 Connective Tissue Disease 62 3.240
15
IMM111 Immunodeficiency, X-Linked, with Hyper-Igm 54 3.240
16
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42 3.240
17
TTR005 Tetrahydrobiopterin Deficiency 41 3.240
18
P PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 37 3.240
19
NSY001 N Syndrome 36 3.240
20
P HYP612 Hypouricemia, Renal 32 3.240
21
DYS001 Dyskinetic Cerebral Palsy 31 3.240
22
PRN024 Purine-Pyrimidine Metabolic Disorder 31 3.240
23
PSD004 Pseudomembranous Conjunctivitis 23 3.240
24
ATL010 Atlantoaxial Subluxation 20 3.240
25
c HRD048 Hereditary Hyperuricemia 8 3.240
26
ART002 Arts Syndrome 51 2.645
27
c INH020 Inherited Metabolic Disorder 49 2.645
28
c RTN150 Retinitis Pigmentosa 10 41 2.645
29
P XNT004 Xanthinuria 37 2.645
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