Search results for "[genes] PNP"

17 hits were found for '[genes] PNP'

# Family MCID Name MIFTS Score
1
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42 21.201
2
SVR004 Severe Combined Immunodeficiency 69 16.026
3
ADN001 Adenosine Deaminase Deficiency 50 16.026
4
LSC001 Lesch-Nyhan Syndrome 61 13.879
5
ART002 Arts Syndrome 53 11.332
6
NTR040 Neutropenia, Cyclic 50 11.332
7
CMB003 Combined T Cell and B Cell Immunodeficiency 46 11.332
8
MLY001 Molybdenum Cofactor Deficiency 41 11.332
9
NZL001 Nezelof Syndrome 38 11.332
10
MRN001 Marantic Endocarditis 36 11.332
11
PDP001 Pedophilia 34 11.332
12
PRN024 Purine-Pyrimidine Metabolic Disorder 34 11.332
13
EXH001 Exhibitionism 33 11.332
14
OLC001 Olecranon Bursitis 31 11.332
15
HMM001 Hemometra 25 11.332
16
PRP015 Paraphilia Disorder 14 11.332
17
SPC002 Specific Bursitis Often of Occupational Origin 12 11.332