Search results for HPRT1

25 hits were found for HPRT1

# Family MCID Name MIFTS Score
1
LSC001 Lesch-Nyhan Syndrome 62 19.282
2
KLL014 Kelley-Seegmiller Syndrome 33 16.522
3
GT001 Gout 57 5.503
4
P HYP014 Hyperuricemia 55 4.327
5
P XRD010 Xeroderma Pigmentosum, Variant Type 68 3.870
6
P CCK001 Cockayne Syndrome 63 3.870
7
APL001 Aplastic Anemia 73 3.351
8
PRN001 Purine Nucleoside Phosphorylase Deficiency 52 3.351
9
ADN024 Adenine Phosphoribosyltransferase Deficiency 49 3.351
10
P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 40 3.351
11
P FNC027 Fanconi Anemia, Complementation Group a 78 2.736
12
CNN005 Connective Tissue Disease 64 2.736
13
IMM174 Immunodeficiency with Hyper-Igm, Type 1 63 2.736
14
TTR005 Tetrahydrobiopterin Deficiency 44 2.736
15
P HYP761 Hypouricemia, Renal, 1 39 2.736
16
P XNT004 Xanthinuria 39 2.736
17
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 39 2.736
18
DDN002 Duodenal Gastrinoma 33 2.736
19
DYS001 Dyskinetic Cerebral Palsy 33 2.736
20
NPH078 Nephrolithiasis, Uric Acid 29 2.736
21
PRN024 Purine-Pyrimidine Metabolic Disorder 25 2.736
22
PSD004 Pseudomembranous Conjunctivitis 24 2.736
23
ATL010 Atlantoaxial Subluxation 21 2.736
24
c HRD048 Hereditary Hyperuricemia 8 2.736
25
c INH020 Inherited Metabolic Disorder 48 1.935
Content
Loading form....