Search results for mesomelic dysplasia

120 hits were found for mesomelic dysplasia

# Family MCID Name MIFTS Score
1
LNG040 Langer Mesomelic Dysplasia 33 6.243
2
MSM016 Mesomelic Dysplasia, Kantaputra Type 25 6.104
3
ULN005 Ulna and Fibula, Hypoplasia of 17 4.084
4
MSM019 Mesomelic Dysplasia, Savarirayan Type 16 4.072
5
NVR001 Nievergelt Syndrome 21 2.899
6
MSM004 Mesomelia-Synostoses Syndrome 22 2.431
7
ACR042 Acromesomelic Dysplasia Campailla Martinelli Type 4 1.983
8
ACR024 Acro Coxo Mesomelic Dysplasia 2 1.882
9
MSM009 Mesomelic Dysplasia Skin Dimples 3 1.862
10
ULN023 Ulnar Hypoplasia 20 1.830
11
FBL009 Fibular Hypoplasia 13 1.798
12
FRY004 Fryns Hofkens Fabry Syndrome 8 1.792
13
BRN057 Brunoni Syndrome 5 1.792
14
DWR001 Dwarfism 47 0.208
15
SKL014 Skeletal Dysplasia 46 0.198
16
SKL017 Skeletal Dysplasias 45 0.198
17
OST015 Osteochondrodysplasia 52 0.153
18
ALR002 Al-Raqad Syndrome 36 0.147
19
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.139
20
LRW001 Leri-Weill Dyschondrosteosis 43 0.128
21
P PLY006 Polydactyly 56 0.122
22
LNG055 Langer Mesomelic Dwarfism 6 0.108
23
P RBN002 Robinow Syndrome 49 0.095
24
TRM011 Terminal Osseous Dysplasia 38 0.092
25
HPT074 Hepatic Adenoma, Somatic 50 0.089
26
HNM002 Hinman Syndrome 25 0.088
27
PSD012 Pseudoachondroplasia 51 0.087
28
RBR001 Roberts Syndrome 60 0.085
29
MSM003 Mesomelia 15 0.085
30
AND005 Androgen Insensitivity Syndrome, Mild 16 0.085
31
OSB001 Osebold-Remondini Syndrome 17 0.083
32
P HPT021 Hepatitis 69 0.082
33
ACH004 Achondroplasia 66 0.081
34
P FNC043 Fanconi Anemia, Complementation Group E 55 0.077
35
c RBN017 Robinow Syndrome, Autosomal Dominant 2 28 0.076
36
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.074
37
P CTR002 Cataract 58 0.073
38
DYS018 Dysostosis 44 0.072
39
P TRN020 Turner Syndrome 65 0.072
40
CSN001 Cousin Syndrome 30 0.072
41
P ATL001 Atelosteogenesis 36 0.069
42
HYP042 Hypochondroplasia 57 0.068
43
P ENC008 Encephalocele 48 0.066
44
c RBN018 Robinow Syndrome, Autosomal Dominant 1 40 0.066
45
P PTS002 Ptosis 51 0.064
46
BLP004 Blepharophimosis 38 0.064
47
P TRC086 Trichohepatoenteric Syndrome 1 48 0.063
48
HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 29 0.061
49
CRD215 Cardioskeletal Syndrome, Kuwaiti Type 14 0.061
50
c MCP004 Mucopolysaccharidosis Iv 60 0.061
51
P MCP010 Mucopolysaccharidosis 60 0.060
52
OLG003 Oligohydramnios 53 0.058
53
SYN005 Synostosis 46 0.058
54
P RFS001 Refsum Disease 63 0.057
55
P ENC018 Encephalopathy 59 0.057
56
NTR003 Natural Killer Cell Leukemia 47 0.057
57
SVR004 Severe Combined Immunodeficiency 69 0.056
58
CNG048 Congenital Hepatic Fibrosis 44 0.056
59
c MCP024 Mucopolysaccharidosis Type Vi 60 0.055
60
ART111 Artery Disease 55 0.055
61
c MCP038 Mucopolysaccharidosis Iva 47 0.055
62
PLM033 Pulmonary Embolism 60 0.052
63
CLF027 Cleft Palate, Isolated 55 0.052
64
P MYS003 Myasthenia Gravis 67 0.050
65
P INF016 Infantile Epileptic Encephalopathy 46 0.050
66
FHR001 Fuhrmann Syndrome 34 0.050
67
c ORF035 Orofaciodigital Syndrome Iv 25 0.050
68
ACR017 Acrofacial Dysostosis 22 0.050
69
c MCP009 Mucopolysaccharidosis Ii 62 0.048
70
c ATM010 Autoimmune Hemolytic Anemia 60 0.048
71
ZLL001 Zellweger Syndrome 56 0.048
72
HLL004 Hellp Syndrome 50 0.048
73
P ORF001 Orofaciodigital Syndrome 47 0.048
74
LMR001 Lemierre's Syndrome 43 0.048
75
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.048
76
MCP033 Mucopolysaccharidoses 39 0.048
77
c HYP072 Hypersensitivity Reaction Type Iii Disease 38 0.048
78
PRP028 Peripheral Vertigo 38 0.048
79
SKL001 Skeletal Tuberculosis 36 0.048
80
HMC014 Homocysteinemia 35 0.048
81
PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 15 0.048
82
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62 0.045
83
P ESC003 Escobar Syndrome 59 0.045
84
URT039 Urticaria 57 0.045
85
c HRD002 Hereditary Angioedema 55 0.045
86
P CNG001 Congenital Myasthenic Syndrome 55 0.045
87
MLT135 Multiple Sulfatase Deficiency 53 0.045
88
P ANG015 Angioedema 52 0.045
89
P FTL009 Fetal Akinesia Deformation Sequence 50 0.045
90
HMG002 Hemoglobinuria 48 0.045
91
HYP074 Hypersensitivity Vasculitis 48 0.045
92
c ANG041 Angioedema, Hereditary, Types I and Ii 48 0.045
93
P AFB001 Afibrinogenemia 48 0.045
94
NNT017 Neonatal Adrenoleukodystrophy 47 0.045
95
CYS002 Cystic Lymphangioma 46 0.045
96
MDS022 Mediastinitis 41 0.045
97
DYS015 Dysentery 40 0.045
98
MLT018 Multiple Carboxylase Deficiency 40 0.045
99
P MLT134 Multiple Pterygium Syndrome, Lethal Type 40 0.045
100
LSB001 Louse-Borne Relapsing Fever 40 0.045
101
c ACQ012 Acquired Angioedema 39 0.045
102
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.045
103
CMP009 Complement Deficiency 39 0.045
104
C1N001 C1 Inhibitor Deficiency 38 0.045
105
c ACT059 Acute Maxillary Sinusitis 37 0.045
106
PRX001 Peroxisomal Disease 37 0.045
107
NRM006 Neuromuscular Junction Disease 35 0.045
108
MLN003 Melancholia 34 0.045
109
C1S001 C1s Deficiency 33 0.045
110
P SLW003 Slow-Channel Congenital Myasthenic Syndrome 33 0.045
111
ART110 Arteritic Anterior Ischemic Optic Neuropathy 31 0.045
112
PLL008 Pallister-Killian Syndrome 31 0.045
113
TRP015 Triphalangeal Thumb 27 0.045
114
P PST063 Postsynaptic Congenital Myasthenic Syndromes 25 0.045
115
KTT001 Ketothiolase Deficiency 24 0.045
116
c MYS011 Myasthenia Gravis Congenital 22 0.045
117
MDL024 Madelung Deformity 20 0.045
118
c ATS328 Autosomal Dominant Robinow Syndrome 3 14 0.045
119
FBL005 Fibular Aplasia 10 0.045
120
CHR365 Chromosome 2q31.1 Duplication Syndrome 10 0.045
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