Search results for HGSNAT

26 hits were found for HGSNAT

# Family MCID Name MIFTS Score
1
c MCP045 Mucopolysaccharidosis, Type Iiic 40 17.920
2
c RTN177 Retinitis Pigmentosa 73 32 6.571
3
c MCP001 Mucopolysaccharidosis Iii 65 5.393
4
P RTN008 Retinitis Pigmentosa 77 4.867
5
LYS002 Lysosomal Storage Disease 52 3.714
6
SCH036 Scheie Syndrome 71 2.995
7
P MCP040 Mucopolysaccharidosis-Plus Syndrome 64 2.492
8
CSY001 C Syndrome 50 2.290
9
KLV001 Kluver-Bucy Syndrome 33 2.189
10
c MCP050 Mucopolysaccharidosis, Type Ii 71 2.117
11
c MCP052 Mucopolysaccharidosis, Type Vi 67 2.117
12
c MCP049 Mucopolysaccharidosis, Type Vii 63 2.117
13
P CHR637 Choroidal Dystrophy, Central Areolar, 1 51 2.117
14
c DYS067 Dystonia 6, Torsion 40 2.117
15
c MCP051 Mucopolysaccharidosis, Type Ix 39 2.117
16
c RTN159 Retinitis Pigmentosa 45 35 2.117
17
FND002 Fundus Dystrophy 51 0.212
18
c INH030 Inherited Retinal Disorder 47 0.212
19
ATS010 Autosomal Recessive Disease 48 0.122
20
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.087
21
P RTN016 Retinal Degeneration 53 0.087
22
RTN023 Retinitis 46 0.087
23
DWR001 Dwarfism 44 0.087
24
NRR001 Neuroretinitis 43 0.087
25
c PRG021 Paragangliomas 4 37 0.087
26
SYN149 Syndromic Rod-Cone Dystrophy 16 0.087
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