Search results for semd

29 hits were found for semd

# Family MCID Name MIFTS Score
1
SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44 5.174
2
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27 5.117
3
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23 4.224
4
SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 25 4.152
5
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 44 3.677
6
BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 26 3.596
7
SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25 3.596
8
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22 3.596
9
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20 2.936
10
SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 31 2.076
11
SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31 2.076
12
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28 2.076
13
SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 18 2.076
14
SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17 2.076
15
PYL017 Pyle Disease 49 0.139
16
c CNT035 Central Nervous System Disease 65 0.080
17
P ENC018 Encephalopathy 58 0.080
18
BRN071 Brain Injury 54 0.080
19
TRM010 Traumatic Brain Injury 54 0.080
20
P TRM003 Tremor 54 0.080
21
INN002 Inner Ear Disease 52 0.080
22
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 0.080
23
SKL017 Skeletal Dysplasias 48 0.080
24
HDN002 Head Injury 48 0.080
25
VST004 Vestibular Disease 45 0.080
26
P LBY004 Labyrinthitis 41 0.080
27
c BLD140 Blood Group, I System 37 0.080
28
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33 0.080
29
DYS134 Dysspondyloenchondromatosis 21 0.080
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