Search results for HPRT1

26 hits were found for HPRT1

# Family MCID Name MIFTS Score
1
LSC001 Lesch-Nyhan Syndrome 62 16.695
2
c HPR001 Hprt-Related Gout 32 13.970
3
P GT001 Gout 55 5.463
4
P HYP014 Hyperuricemia 50 4.295
5
P CCK001 Cockayne Syndrome 62 3.842
6
P XRD010 Xeroderma Pigmentosum, Variant Type 55 3.842
7
P APL001 Aplastic Anemia 74 3.327
8
ADN024 Adenine Phosphoribosyltransferase Deficiency 48 3.327
9
c HYP623 Hyperuricemic Nephropathy, Familial Juvenile 1 31 3.327
10
NPH078 Nephrolithiasis, Uric Acid 28 3.327
11
c FNC027 Fanconi Anemia, Complementation Group a 71 2.717
12
CNN005 Connective Tissue Disease 61 2.717
13
IMM111 Immunodeficiency, X-Linked, with Hyper-Igm 55 2.717
14
NSY001 N Syndrome 44 2.717
15
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42 2.717
16
TTR005 Tetrahydrobiopterin Deficiency 41 2.717
17
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39 2.717
18
P XNT004 Xanthinuria 35 2.717
19
P HYP612 Hypouricemia, Renal 33 2.717
20
PRN024 Purine-Pyrimidine Metabolic Disorder 32 2.717
21
DYS001 Dyskinetic Cerebral Palsy 30 2.717
22
PSD004 Pseudomembranous Conjunctivitis 22 2.717
23
ATL010 Atlantoaxial Subluxation 19 2.717
24
c HRD048 Hereditary Hyperuricemia 8 2.717
25
c GTH001 Gout, Hprt1-Related 8 1.993
26
c INH020 Inherited Metabolic Disorder 45 1.921
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