Search results for mesomelic dysplasia

91 hits were found for mesomelic dysplasia

# Family MCID Name MIFTS Score
1
MSM016 Mesomelic Dysplasia, Kantaputra Type 28 6.709
2
LNG040 Langer Mesomelic Dysplasia 34 6.552
3
MSM019 Mesomelic Dysplasia, Savarirayan Type 20 4.521
4
ULN005 Ulna and Fibula, Hypoplasia of 19 4.432
5
MSM004 Mesomelia-Synostoses Syndrome 29 3.679
6
NVR001 Nievergelt Syndrome 25 3.493
7
ULN023 Ulnar Hypoplasia 23 2.594
8
ACR042 Acromesomelic Dysplasia Campailla Martinelli Type 7 2.043
9
MSM020 Mesomelic Dysplasia, Camera Type 4 1.911
10
ACR024 Acro Coxo Mesomelic Dysplasia 2 1.911
11
FRY004 Fryns Hofkens Fabry Syndrome 13 1.889
12
MSM009 Mesomelic Dysplasia Skin Dimples 3 1.889
13
CHR365 Chromosome 2q31.1 Duplication Syndrome 13 1.853
14
SKL017 Skeletal Dysplasias 48 0.238
15
DWR001 Dwarfism 48 0.230
16
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.185
17
OST015 Osteochondrodysplasia 54 0.174
18
P ANR048 Aniridia 1 68 0.168
19
ANR038 Anorexia Nervosa 1 21 0.168
20
BLD137 Blood Group--Ahonen 17 0.168
21
ALR002 Al-Raqad Syndrome 30 0.166
22
HPT082 Hepatic Adenomas, Familial 52 0.151
23
P THR117 Three M Syndrome 1 52 0.144
24
c BLD140 Blood Group, I System 37 0.143
25
P PLY006 Polydactyly 57 0.141
26
LRW001 Leri-Weill Dyschondrosteosis 41 0.141
27
MSM003 Mesomelia 15 0.119
28
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.116
29
OSB001 Osebold-Remondini Syndrome 23 0.109
30
SPN331 Spondyloocular Syndrome 34 0.108
31
ADP007 Adie Pupil 41 0.104
32
TRM011 Terminal Osseous Dysplasia 34 0.103
33
PSD012 Pseudoachondroplasia 52 0.102
34
P RBN002 Robinow Syndrome 48 0.100
35
P HPT021 Hepatitis 75 0.096
36
ACH004 Achondroplasia 67 0.095
37
CSN001 Cousin Syndrome 28 0.093
38
RBR001 Roberts Syndrome 55 0.091
39
ALP046 Alport Syndrome, X-Linked 74 0.090
40
P FNC043 Fanconi Anemia, Complementation Group E 52 0.088
41
KNS006 Kniest-Like Dysplasia, Lethal 20 0.087
42
ACR011 Acromesomelic Dysplasia, Maroteaux Type 54 0.087
43
P CTR002 Cataract 60 0.086
44
c RBN018 Robinow Syndrome, Autosomal Dominant 1 39 0.085
45
P TRN020 Turner Syndrome 69 0.084
46
PLV015 Pelvis-Shoulder Dysplasia 21 0.084
47
c RBN017 Robinow Syndrome, Autosomal Dominant 2 37 0.083
48
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.081
49
c ATL015 Atelosteogenesis, Type Ii 33 0.081
50
DYS018 Dysostosis 48 0.080
51
P ATL001 Atelosteogenesis 38 0.079
52
HYP042 Hypochondroplasia 57 0.077
53
CLF027 Cleft Palate, Isolated 61 0.076
54
P ENC008 Encephalocele 48 0.076
55
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.075
56
P PTS002 Ptosis 50 0.074
57
BLP004 Blepharophimosis 34 0.074
58
PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19 0.074
59
SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 13 0.074
60
SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35 0.071
61
P ENC018 Encephalopathy 58 0.070
62
CRD215 Cardioskeletal Syndrome, Kuwaiti Type 17 0.070
63
SVR004 Severe Combined Immunodeficiency 71 0.068
64
c CRN109 Cranioectodermal Dysplasia 2 25 0.068
65
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 25 0.068
66
FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48 0.067
67
PLL008 Pallister-Killian Syndrome 41 0.066
68
NTR003 Natural Killer Cell Leukemia 45 0.065
69
CMB081 Combined Immunodeficiency, X-Linked 64 0.064
70
GRW036 Growth Control, Y-Chromosome Influenced 33 0.064
71
P TRC086 Trichohepatoenteric Syndrome 1 54 0.063
72
P CNG048 Congenital Hepatic Fibrosis 41 0.063
73
LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 16 0.063
74
SYN005 Synostosis 50 0.061
75
GLL035 Gillessen-Kaesbach-Nishimura Syndrome 32 0.059
76
P ORF001 Orofaciodigital Syndrome 46 0.057
77
c ORF035 Orofaciodigital Syndrome Iv 34 0.057
78
ACR017 Acrofacial Dysostosis 24 0.057
79
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49 0.055
80
P INF016 Infantile Epileptic Encephalopathy 43 0.055
81
c ACR103 Acrofrontofacionasal Dysostosis 1 25 0.053
82
c MCK035 Meckel Syndrome, Type 10 20 0.053
83
BRC111 Brachymesomelia-Renal Syndrome 16 0.053
84
DND005 Dandy-Walker Complex 33 0.049
85
P RNG031 Ring Chromosome Y Syndrome 29 0.049
86
c PLY149 Polydactyly, Preaxial Iv 27 0.049
87
c RBN020 Robinow Syndrome, Autosomal Dominant 3 27 0.049
88
MDL024 Madelung Deformity 26 0.049
89
FMR016 Femur-Fibula-Ulna Syndrome 23 0.049
90
CLD006 Cleidorhizomelic Syndrome 16 0.049
91
FBL005 Fibular Aplasia 11 0.049
Content
Loading form....