Search results for "[genes] PNP"

19 hits were found for '[genes] PNP'

# Family MCID Name MIFTS Score
1
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42 22.302
2
LSC001 Lesch-Nyhan Syndrome 61 17.631
3
ADN001 Adenosine Deaminase Deficiency 45 15.770
4
ART002 Arts Syndrome 51 13.657
5
MLL018 Miller-Dieker Lissencephaly Syndrome 45 13.657
6
DLS001 Delusional Disorder 41 13.657
7
MLY001 Molybdenum Cofactor Deficiency 38 13.657
8
IMM015 Immune Defect Due to Absence of Thymus 38 13.657
9
OLC001 Olecranon Bursitis 35 13.657
10
PRN024 Purine-Pyrimidine Metabolic Disorder 31 13.657
11
PDP001 Pedophilia 30 13.657
12
EXH001 Exhibitionism 29 13.657
13
HMM001 Hemometra 17 13.657
14
SPC002 Specific Bursitis Often of Occupational Origin 17 13.657
15
PRP015 Paraphilia Disorder 12 13.657
16
6MR001 6-Mercaptopurine Sensitivity 31 11.151
17
P HRD022 Hordeolum 29 11.151
18
MBM001 Meibomian Cyst 28 11.151
19
c INT047 Internal Hordeolum 19 11.151