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 52 21.201
2
SVR004 Severe Combined Immunodeficiency 65 16.026
3
ADN001 Adenosine Deaminase Deficiency 44 16.026
4
LSC001 Lesch-Nyhan Syndrome 61 13.879
5
ART002 Arts Syndrome 45 11.332
6
NTR040 Neutropenia, Cyclic 44 11.332
7
MLY001 Molybdenum Cofactor Deficiency 37 11.332
8
CMB003 Combined T Cell and B Cell Immunodeficiency 36 11.332
9
NZL001 Nezelof Syndrome 35 11.332
10
MRN001 Marantic Endocarditis 33 11.332
11
EXH001 Exhibitionism 32 11.332
12
PDP001 Pedophilia 29 11.332
13
OLC001 Olecranon Bursitis 29 11.332
14
PRN024 Purine-Pyrimidine Metabolic Disorder 25 11.332
15
HMM001 Hemometra 20 11.332
16
SPC002 Specific Bursitis Often of Occupational Origin 12 11.332
17
PRP015 Paraphilia Disorder 9 11.332