# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
P
|
CHN044 |
Chondrodysplasia Punctata Syndrome |
43 |
6.335 |
|
2 |
|
c
|
RHZ011 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
49 |
5.788 |
|
3 |
|
c
|
RHZ014 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
47 |
5.560 |
|
4 |
|
c
|
CHN028 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
28 |
5.549 |
|
5 |
|
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
49 |
5.348 |
|
6 |
|
P
|
RHZ001 |
Rhizomelic Chondrodysplasia Punctata |
49 |
5.331 |
|
7 |
|
|
CHN054 |
Chondrodysplasia, Blomstrand Type |
45 |
5.322 |
|
8 |
|
c
|
CHN074 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
43 |
4.782 |
|
9 |
|
c
|
RHZ004 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
39 |
4.776 |
|
10 |
|
|
MTP025 |
Metaphyseal Chondrodysplasia, Schmid Type |
44 |
4.556 |
|
11 |
|
|
CHN057 |
Chondrodysplasia, Grebe Type |
36 |
4.506 |
|
12 |
|
|
CRT002 |
Cartilage-Hair Hypoplasia |
58 |
4.337 |
|
13 |
|
|
MTP028 |
Metaphyseal Dysplasia, Spahr Type |
28 |
4.295 |
|
14 |
|
c
|
RHZ015 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
38 |
3.840 |
|
15 |
|
c
|
OTS014 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
44 |
3.748 |
|
16 |
|
c
|
CHN017 |
Chondrodysplasia Punctata 1, X-Linked |
14 |
3.569 |
|
17 |
|
|
CHN045 |
Chondrodysplasia with Joint Dislocations, Gpapp Type |
21 |
3.494 |
|
18 |
|
|
CHN075 |
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal |
19 |
3.358 |
|
19 |
|
c
|
CHN018 |
Chondrodysplasia Punctata 2, X-Linked |
25 |
3.275 |
|
20 |
|
|
OST062 |
Osteoarthritis with Mild Chondrodysplasia |
43 |
3.259 |
|
21 |
|
|
CHN050 |
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia |
24 |
3.226 |
|
22 |
|
c
|
CHN071 |
Chondrodysplasia Punctata, Autosomal Dominant |
17 |
3.217 |
|
23 |
|
c
|
ATL011 |
Atelosteogenesis, Type I |
37 |
3.207 |
|
24 |
|
|
CHN064 |
Chondrodysplasia-Pseudohermaphroditism Syndrome |
21 |
3.197 |
|
25 |
|
|
SPN209 |
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations |
55 |
3.175 |
|
26 |
|
P
|
XLN161 |
X-Linked Chondrodysplasia Punctata |
29 |
2.978 |
|
27 |
|
|
SPN362 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
33 |
2.879 |
|
28 |
|
|
LKN009 |
Leukoencephalopathy with Metaphyseal Chondrodysplasia |
17 |
2.879 |
|
29 |
|
|
EPP011 |
Epiphyseal Chondrodysplasia, Miura Type |
19 |
2.857 |
|
30 |
|
|
TRC060 |
Trichoscyphodysplasia |
10 |
2.831 |
|
31 |
|
|
CHN067 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
18 |
2.557 |
|
32 |
|
|
CHN026 |
Chondrodysplasia Calcificans Metaphysealis |
11 |
2.496 |
|
33 |
|
|
ACR096 |
Acromesomelic Dysplasia, Demirhan Type |
20 |
2.484 |
|
34 |
|
|
SCH030 |
Schneckenbecken Dysplasia |
32 |
2.471 |
|
35 |
|
|
SPN152 |
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta |
25 |
2.471 |
|
36 |
|
c
|
OTS013 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
44 |
2.456 |
|
37 |
|
|
RTN194 |
Retinitis Pigmentosa with or Without Skeletal Anomalies |
20 |
2.456 |
|
38 |
|
|
MTP007 |
Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands |
6 |
2.056 |
|
39 |
|
|
LTH005 |
Lethal Chondrodysplasia Moerman Type |
17 |
2.043 |
|
40 |
|
|
MTP017 |
Metaphyseal Chondrodysplasia, Kaitila Type |
14 |
2.043 |
|
41 |
|
|
CHN066 |
Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density |
14 |
2.043 |
|
42 |
|
|
CHN027 |
Chondrodysplasia Lethal Recessive |
15 |
2.028 |
|
43 |
|
P
|
OTS002 |
Otospondylomegaepiphyseal Dysplasia |
45 |
2.011 |
|
44 |
|
|
ART116 |
Arthropathy, Progressive Pseudorheumatoid, of Childhood |
40 |
1.991 |
|
45 |
|
|
SPN415 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
21 |
1.991 |
|
46 |
|
|
CHN032 |
Chondrodysplasia Punctata, Humero-Metacarpal Type |
3 |
1.486 |
|
47 |
|
|
LTH006 |
Lethal Chondrodysplasia Seller Type |
3 |
1.486 |
|
48 |
|
|
MTP035 |
Metaphyseal Chondrodysplasia, Pena Type |
7 |
1.471 |
|
49 |
|
|
CHN033 |
Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly |
3 |
1.471 |
|
50 |
|
|
CHN030 |
Chondrodysplasia Punctata Sheffield Type |
3 |
1.471 |
|
51 |
|
|
MTP008 |
Metaphyseal Chondrodysplasia, Others |
2 |
1.471 |
|
52 |
|
|
SHW002 |
Shwachman-Diamond Syndrome |
63 |
1.454 |
|
53 |
|
|
MLT145 |
Multiple Enchondromatosis, Maffucci Type |
51 |
1.454 |
|
54 |
|
|
ACR009 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
34 |
1.454 |
|
55 |
|
|
OST165 |
Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions |
4 |
1.454 |
|
56 |
|
|
CHN024 |
Chondrodysplasia Acromesomelic with Genital Anomalies |
3 |
1.454 |
|
57 |
|
|
CHN031 |
Chondrodysplasia Punctata with Steroid Sulfatase Deficiency |
2 |
1.454 |
|
58 |
|
|
PLT026 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
28 |
1.434 |
|
59 |
|
|
SPN361 |
Spondylometaphyseal Dysplasia, Algerian Type |
22 |
1.434 |
|
60 |
|
|
SHR075 |
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly |
42 |
1.408 |
|
61 |
|
|
BND017 |
Bone Dysplasia, Lethal, Holmgren Type |
21 |
1.408 |
|
62 |
|
|
ULN007 |
Ulna Metaphyseal Dysplasia Syndrome |
18 |
1.408 |
|
63 |
|
|
FRS005 |
Fraser Jequier Chen Syndrome |
5 |
1.408 |
|
64 |
|
|
OST015 |
Osteochondrodysplasia |
54 |
0.140 |
|
65 |
|
P
|
CRV039 |
Cervicitis |
49 |
0.125 |
|
66 |
|
c
|
BLD140 |
Blood Group, I System |
37 |
0.125 |
|
67 |
|
|
DWR001 |
Dwarfism |
48 |
0.121 |
|
68 |
|
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
21 |
0.121 |
|
69 |
|
P
|
CTR002 |
Cataract |
60 |
0.117 |
|
70 |
|
P
|
ANR048 |
Aniridia 1 |
68 |
0.113 |
|
71 |
|
P
|
ICH004 |
Ichthyosis |
54 |
0.113 |
|
72 |
|
|
ALR002 |
Al-Raqad Syndrome |
30 |
0.113 |
|
73 |
|
|
ANR038 |
Anorexia Nervosa 1 |
21 |
0.113 |
|
74 |
|
|
BLD137 |
Blood Group--Ahonen |
17 |
0.113 |
|
75 |
|
P
|
ZLL001 |
Zellweger Syndrome |
56 |
0.109 |
|
76 |
|
|
PRX034 |
Peroxisome Disorders |
20 |
0.109 |
|
77 |
|
|
OST012 |
Osteoarthritis |
88 |
0.094 |
|
78 |
|
P
|
BRC006 |
Brachydactyly |
57 |
0.094 |
|
79 |
|
|
HPT082 |
Hepatic Adenomas, Familial |
52 |
0.094 |
|
80 |
|
|
RFS006 |
Refsum Disease, Classic |
63 |
0.089 |
|
81 |
|
P
|
THR117 |
Three M Syndrome 1 |
52 |
0.089 |
|
82 |
|
P
|
LPS004 |
Lupus Erythematosus |
69 |
0.083 |
|
83 |
|
|
SKL017 |
Skeletal Dysplasias |
48 |
0.083 |
|
84 |
|
|
PRX077 |
Peroxisomal Biogenesis Disorders |
40 |
0.083 |
|
85 |
|
|
PRX001 |
Peroxisomal Disease |
34 |
0.083 |
|
86 |
|
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
57 |
0.077 |
|
87 |
|
|
SCH068 |
Schwartz-Jampel Syndrome, Type 1 |
54 |
0.077 |
|
88 |
|
|
NNT017 |
Neonatal Adrenoleukodystrophy |
52 |
0.077 |
|
89 |
|
|
MLB001 |
Mulibrey Nanism |
46 |
0.077 |
|
90 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
40 |
0.077 |
|
91 |
|
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
37 |
0.077 |
|
92 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
0.070 |
|
93 |
|
P
|
HPT021 |
Hepatitis |
75 |
0.070 |
|
94 |
|
|
ACH004 |
Achondroplasia |
67 |
0.070 |
|
95 |
|
|
BRT054 |
Brittle Bone Disorder |
67 |
0.070 |
|
96 |
|
|
RCK004 |
Rickets |
63 |
0.070 |
|
97 |
|
|
DST005 |
Diastrophic Dysplasia |
54 |
0.070 |
|
98 |
|
|
SPS057 |
Spasticity |
41 |
0.070 |
|
99 |
|
|
GRN013 |
Greenberg Dysplasia |
36 |
0.070 |
|
100 |
|
|
ALP046 |
Alport Syndrome, X-Linked |
74 |
0.063 |
|
101 |
|
|
ADR007 |
Adrenoleukodystrophy |
72 |
0.063 |
|
102 |
|
P
|
RSP003 |
Respiratory Failure |
71 |
0.063 |
|
103 |
|
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
70 |
0.063 |
|
104 |
|
P
|
KLL001 |
Kallmann Syndrome |
63 |
0.063 |
|
105 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
63 |
0.063 |
|
106 |
|
|
ICH054 |
Ichthyosis, X-Linked |
59 |
0.063 |
|
107 |
|
|
NRN002 |
Neuronitis |
43 |
0.063 |
|
108 |
|
|
EPD022 |
Epidermolysis Bullosa Pruriginosa |
38 |
0.063 |
|
109 |
|
|
EPC005 |
Epicanthus |
35 |
0.063 |
|
110 |
|
|
NNT004 |
Neonatal Respiratory Failure |
33 |
0.063 |
|
111 |
|
|
CNG065 |
Congenital Contractures |
27 |
0.063 |
|
112 |
|
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
22 |
0.063 |
|
113 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
91 |
0.054 |
|
114 |
|
P
|
ART022 |
Arthritis |
77 |
0.054 |
|
115 |
|
P
|
TRN020 |
Turner Syndrome |
69 |
0.054 |
|
116 |
|
|
ATM095 |
Autoimmune Disease |
66 |
0.054 |
|
117 |
|
|
MXD005 |
Mixed Connective Tissue Disease |
66 |
0.054 |
|
118 |
|
|
CNN005 |
Connective Tissue Disease |
65 |
0.054 |
|
119 |
|
P
|
PNC044 |
Pancreatitis |
64 |
0.054 |
|
120 |
|
|
SPN008 |
Spondyloepiphyseal Dysplasia Congenita |
60 |
0.054 |
|
121 |
|
|
DBF001 |
D-Bifunctional Protein Deficiency |
57 |
0.054 |
|
122 |
|
P
|
PLY006 |
Polydactyly |
57 |
0.054 |
|
123 |
|
P
|
HYP726 |
Hypercalcemia, Infantile, 1 |
57 |
0.054 |
|
124 |
|
P
|
HYP024 |
Hypoparathyroidism |
55 |
0.054 |
|
125 |
|
|
MLT135 |
Multiple Sulfatase Deficiency |
54 |
0.054 |
|
126 |
|
|
KNS001 |
Kniest Dysplasia |
53 |
0.054 |
|
127 |
|
|
RTN023 |
Retinitis |
52 |
0.054 |
|
128 |
|
P
|
FNC043 |
Fanconi Anemia, Complementation Group E |
52 |
0.054 |
|
129 |
|
P
|
OCL001 |
Ocular Albinism |
46 |
0.054 |
|
130 |
|
c
|
ACH033 |
Achondrogenesis, Type Ia |
46 |
0.054 |
|
131 |
|
|
CRB009 |
Cerebritis |
41 |
0.054 |
|
132 |
|
|
LTH045 |
Lutheran Suppressor, X-Linked |
41 |
0.054 |
|
133 |
|
c
|
HYP793 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
40 |
0.054 |
|
134 |
|
c
|
DSB006 |
Desbuquois Dysplasia 1 |
39 |
0.054 |
|
135 |
|
|
VTM001 |
Vitamin K Deficiency Hemorrhagic Disease |
35 |
0.054 |
|
136 |
|
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
29 |
0.054 |
|
137 |
|
|
AST010 |
Astley-Kendall Syndrome |
15 |
0.054 |
|
138 |
|
|
INS024 |
Insulin-Like Growth Factor I |
83 |
0.044 |
|
139 |
|
P
|
HRT032 |
Heart Disease |
80 |
0.044 |
|
140 |
|
P
|
MTC003 |
Metachromatic Leukodystrophy |
72 |
0.044 |
|
141 |
|
c
|
JVN010 |
Juvenile Rheumatoid Arthritis |
71 |
0.044 |
|
142 |
|
P
|
TTR001 |
Tetralogy of Fallot |
70 |
0.044 |
|
143 |
|
P
|
DYS007 |
Dyskeratosis Congenita |
68 |
0.044 |
|
144 |
|
|
AGN016 |
Aging |
65 |
0.044 |
|
145 |
|
P
|
NRP001 |
Neuropathy |
63 |
0.044 |
|
146 |
|
|
MCR013 |
Microphthalmia |
61 |
0.044 |
|
147 |
|
P
|
DYS154 |
Dystonia |
61 |
0.044 |
|
148 |
|
|
SPN027 |
Spinal Stenosis |
60 |
0.044 |
|
149 |
|
c
|
PRM005 |
Primary Hyperparathyroidism |
59 |
0.044 |
|
150 |
|
c
|
OST080 |
Osteogenesis Imperfecta, Type Ii |
59 |
0.044 |
|
151 |
|
P
|
MLT007 |
Multiple Epiphyseal Dysplasia |
57 |
0.044 |
|
152 |
|
|
INC021 |
Incontinentia Pigmenti |
57 |
0.044 |
|
153 |
|
P
|
SCL018 |
Scoliosis |
56 |
0.044 |
|
154 |
|
P
|
ALP008 |
Alopecia |
56 |
0.044 |
|
155 |
|
|
ENC044 |
Enchondromatosis, Multiple, Ollier Type |
54 |
0.044 |
|
156 |
|
|
ACR011 |
Acromesomelic Dysplasia, Maroteaux Type |
54 |
0.044 |
|
157 |
|
c
|
ACH041 |
Achondrogenesis, Type Ii |
53 |
0.044 |
|
158 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
53 |
0.044 |
|
159 |
|
|
ACR013 |
Acrodysostosis |
53 |
0.044 |
|
160 |
|
P
|
PTT014 |
Pitt-Hopkins Syndrome |
52 |
0.044 |
|
161 |
|
c
|
PSD066 |
Pseudohypoparathyroidism, Type Ib |
52 |
0.044 |
|
162 |
|
|
PRX028 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
52 |
0.044 |
|
163 |
|
|
OST016 |
Osteochondrosis |
52 |
0.044 |
|
164 |
|
|
HYP535 |
Hypogonadotropic Hypogonadism 7 with or Without Anosmia |
51 |
0.044 |
|
165 |
|
P
|
PSD015 |
Pseudohypoparathyroidism |
50 |
0.044 |
|
166 |
|
|
CNG184 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects |
50 |
0.044 |
|
167 |
|
P
|
FBR025 |
Fibrochondrogenesis |
50 |
0.044 |
|
168 |
|
|
PYL017 |
Pyle Disease |
49 |
0.044 |
|
169 |
|
|
RNL078 |
Renal Dysplasia |
49 |
0.044 |
|
170 |
|
|
STS002 |
Situs Inversus |
48 |
0.044 |
|
171 |
|
|
DYS018 |
Dysostosis |
48 |
0.044 |
|
172 |
|
P
|
ICH001 |
Ichthyosis Vulgaris |
47 |
0.044 |
|
173 |
|
|
EXS001 |
Exostosis |
46 |
0.044 |
|
174 |
|
c
|
ACH042 |
Achondrogenesis, Type Ib |
46 |
0.044 |
|
175 |
|
|
ALB002 |
Albinism |
45 |
0.044 |
|
176 |
|
|
HYP017 |
Hypophosphatemia |
45 |
0.044 |
|
177 |
|
P
|
ACH011 |
Achondrogenesis |
44 |
0.044 |
|
178 |
|
P
|
OPT070 |
Optic Nerve Hypoplasia, Bilateral |
42 |
0.044 |
|
179 |
|
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
41 |
0.044 |
|
180 |
|
|
FBL002 |
Fibular Hypoplasia and Complex Brachydactyly |
40 |
0.044 |
|
181 |
|
P
|
BLN001 |
Blount's Disease |
39 |
0.044 |
|
182 |
|
|
MXL016 |
Maxillonasal Dysplasia, Binder Type |
39 |
0.044 |
|
183 |
|
c
|
BRC081 |
Brachydactyly, Type C |
38 |
0.044 |
|
184 |
|
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
37 |
0.044 |
|
185 |
|
|
SLP010 |
Slipped Capital Femoral Epiphysis |
37 |
0.044 |
|
186 |
|
|
SPN331 |
Spondyloocular Syndrome |
34 |
0.044 |
|
187 |
|
|
ACR016 |
Acromesomelic Dysplasia |
33 |
0.044 |
|
188 |
|
|
ACH043 |
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans |
32 |
0.044 |
|
189 |
|
|
WRF003 |
Warfarin Syndrome |
31 |
0.044 |
|
190 |
|
|
ATM052 |
Autoimmune Disease 1 |
30 |
0.044 |
|
191 |
|
P
|
CXV002 |
Coxa Vara |
30 |
0.044 |
|
192 |
|
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
29 |
0.044 |
|
193 |
|
|
KYP002 |
Kyphomelic Dysplasia |
27 |
0.044 |
|
194 |
|
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
26 |
0.044 |
|
195 |
|
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
25 |
0.044 |
|
196 |
|
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
25 |
0.044 |
|
197 |
|
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
24 |
0.044 |
|
198 |
|
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
24 |
0.044 |
|
199 |
|
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
24 |
0.044 |
|
200 |
|
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
24 |
0.044 |
|
201 |
|
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
23 |
0.044 |
|
202 |
|
|
OSB001 |
Osebold-Remondini Syndrome |
23 |
0.044 |
|
203 |
|
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
22 |
0.044 |
|
204 |
|
|
MSL005 |
Mseleni Joint Disease |
22 |
0.044 |
|
205 |
|
|
PRX072 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
22 |
0.044 |
|
206 |
|
|
SHR096 |
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency |
20 |
0.044 |
|
207 |
|
|
MSM003 |
Mesomelia |
15 |
0.044 |
|
208 |
|
|
CHR459 |
Chromosome Xp Deletion |
11 |
0.044 |
|
209 |
|
P
|
PNC035 |
Pancreatic Cancer |
89 |
0.031 |
|
210 |
|
|
AST005 |
Asthma |
83 |
0.031 |
|
211 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
81 |
0.031 |
|
212 |
|
P
|
BLD134 |
Bladder Cancer |
78 |
0.031 |
|
213 |
|
P
|
OST002 |
Osteoporosis |
75 |
0.031 |
|
214 |
|
|
BDY004 |
Body Mass Index Quantitative Trait Locus 11 |
75 |
0.031 |
|
215 |
|
|
ISC006 |
Ischemic Heart Disease |
73 |
0.031 |
|
216 |
|
P
|
FML018 |
Familial Mediterranean Fever |
73 |
0.031 |
|
217 |
|
P
|
DBT009 |
Diabetes Mellitus |
72 |
0.031 |
|
218 |
|
|
NRF026 |
Neurofibromatosis, Type Iv, of Riccardi |
72 |
0.031 |
|
219 |
|
|
WLS001 |
Wilson Disease |
72 |
0.031 |
|
220 |
|
c
|
SPN225 |
Spondyloarthropathy 1 |
71 |
0.031 |
|
221 |
|
c
|
HMC039 |
Hemochromatosis, Type 1 |
71 |
0.031 |
|
222 |
|
P
|
MNN013 |
Meningitis |
71 |
0.031 |
|
223 |
|
P
|
PNM007 |
Pneumonia |
70 |
0.031 |
|
224 |
|
|
DWN001 |
Down Syndrome |
70 |
0.031 |
|
225 |
|
|
ART016 |
Aortic Aneurysm |
70 |
0.031 |
|
226 |
|
|
ACR007 |
Acromegaly |
70 |
0.031 |
|
227 |
|
P
|
OST001 |
Osteopetrosis |
70 |
0.031 |
|
228 |
|
P
|
MYP004 |
Myopathy |
69 |
0.031 |
|
229 |
|
|
DMN002 |
Dementia |
68 |
0.031 |
|
230 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
0.031 |
|
231 |
|
P
|
HYD006 |
Hydrocephalus |
68 |
0.031 |
|
232 |
|
|
SKN016 |
Skin Disease |
68 |
0.031 |
|
233 |
|
P
|
ART023 |
Arthropathy |
68 |
0.031 |
|
234 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
67 |
0.031 |
|
235 |
|
P
|
PRP003 |
Porphyria Cutanea Tarda |
67 |
0.031 |
|
236 |
|
|
DRM006 |
Dermatitis |
67 |
0.031 |
|
237 |
|
|
NVS017 |
Nevus, Epidermal |
66 |
0.031 |
|
238 |
|
P
|
THN009 |
Thanatophoric Dysplasia, Type I |
66 |
0.031 |
|
239 |
|
|
PSR001 |
Psoriatic Arthritis |
66 |
0.031 |
|
240 |
|
P
|
PSR002 |
Psoriasis |
65 |
0.031 |
|
241 |
|
|
NRF007 |
Neurofibroma |
65 |
0.031 |
|
242 |
|
|
SYS004 |
Systemic Mastocytosis |
65 |
0.031 |
|
243 |
|
|
TTN003 |
Tetanus |
65 |
0.031 |
|
244 |
|
|
RCT015 |
Reactive Arthritis |
65 |
0.031 |
|
245 |
|
c
|
MLT160 |
Multiple Endocrine Neoplasia, Type Iia |
65 |
0.031 |
|
246 |
|
|
PRT010 |
Parathyroid Carcinoma |
64 |
0.031 |
|
247 |
|
|
OST017 |
Osteomyelitis |
64 |
0.031 |
|
248 |
|
|
CRP001 |
Carpal Tunnel Syndrome |
64 |
0.031 |
|
249 |
|
|
HYP066 |
Hyperglycemia |
64 |
0.031 |
|
250 |
|
P
|
ALP009 |
Alopecia Areata |
64 |
0.031 |
|
251 |
|
|
OST003 |
Osteonecrosis |
63 |
0.031 |
|
252 |
|
|
IRR002 |
Irritable Bowel Syndrome |
63 |
0.031 |
|
253 |
|
P
|
CLD001 |
Cleidocranial Dysplasia |
63 |
0.031 |
|
254 |
|
|
RHM027 |
Rheumatic Disease |
62 |
0.031 |
|
255 |
|
P
|
PRP029 |
Porphyria |
62 |
0.031 |
|
256 |
|
P
|
HYP609 |
Hypophosphatemic Rickets, X-Linked Dominant |
62 |
0.031 |
|
257 |
|
|
THR024 |
Thrombosis |
61 |
0.031 |
|
258 |
|
|
HYP266 |
Hypoxia |
61 |
0.031 |
|
259 |
|
P
|
EHL001 |
Ehlers-Danlos Syndrome |
61 |
0.031 |
|
260 |
|
|
SYN007 |
Synovitis |
61 |
0.031 |
|
261 |
|
P
|
HMP007 |
Hemophilia |
61 |
0.031 |
|
262 |
|
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
61 |
0.031 |
|
263 |
|
P
|
SPN052 |
Spondyloarthropathy |
61 |
0.031 |
|
264 |
|
|
ANR040 |
Aneurysm |
61 |
0.031 |
|
265 |
|
|
SPT004 |
Septic Arthritis |
60 |
0.031 |
|
266 |
|
P
|
NTR004 |
Neutropenia |
60 |
0.031 |
|
267 |
|
|
NTH001 |
Netherton Syndrome |
60 |
0.031 |
|
268 |
|
|
JNT002 |
Joint Disorders |
60 |
0.031 |
|
269 |
|
P
|
HST010 |
Histiocytosis |
60 |
0.031 |
|
270 |
|
|
GT001 |
Gout |
60 |
0.031 |
|
271 |
|
P
|
PRT013 |
Portal Hypertension |
59 |
0.031 |
|
272 |
|
|
PRS047 |
Prostatitis |
59 |
0.031 |
|
273 |
|
|
SNS001 |
Sensorineural Hearing Loss |
59 |
0.031 |
|
274 |
|
|
MRT001 |
Muir-Torre Syndrome |
59 |
0.031 |
|
275 |
|
P
|
OST009 |
Osteochondritis Dissecans |
58 |
0.031 |
|
276 |
|
P
|
HYP069 |
Hyperparathyroidism |
58 |
0.031 |
|
277 |
|
P
|
HYP035 |
Hypophosphatasia |
58 |
0.031 |
|
278 |
|
|
VSC002 |
Vascular Dementia |
58 |
0.031 |
|
279 |
|
|
IMM158 |
Immune Suppression |
57 |
0.031 |
|
280 |
|
P
|
LPD010 |
Lipodystrophy |
57 |
0.031 |
|
281 |
|
|
ECT006 |
Ectodermal Dysplasia |
57 |
0.031 |
|
282 |
|
P
|
LRY019 |
Laryngitis |
57 |
0.031 |
|
283 |
|
|
PNM008 |
Pneumothorax |
57 |
0.031 |
|
284 |
|
P
|
STC001 |
Stickler Syndrome |
56 |
0.031 |
|
285 |
|
P
|
CHN012 |
Chondrosarcoma |
56 |
0.031 |
|
286 |
|
|
BNF002 |
Bone Fracture |
56 |
0.031 |
|
287 |
|
|
ANK001 |
Ankylosis |
56 |
0.031 |
|
288 |
|
|
ACR008 |
Acrocallosal Syndrome |
56 |
0.031 |
|
289 |
|
|
NLP001 |
Nail-Patella Syndrome |
56 |
0.031 |
|
290 |
|
|
ALK013 |
Alkaptonuria |
56 |
0.031 |
|
291 |
|
P
|
MSC003 |
Muscular Atrophy |
55 |
0.031 |
|
292 |
|
|
RDC002 |
Radiculopathy |
55 |
0.031 |
|
293 |
|
|
SPN051 |
Spondylitis |
55 |
0.031 |
|
294 |
|
|
SPN019 |
Spondylolisthesis |
55 |
0.031 |
|
295 |
|
|
DGN001 |
Degenerative Disc Disease |
55 |
0.031 |
|
296 |
|
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
55 |
0.031 |
|
297 |
|
|
DYS014 |
Dyspepsia |
54 |
0.031 |
|
298 |
|
|
PGM001 |
Pigmented Villonodular Synovitis |
54 |
0.031 |
|
299 |
|
|
PST021 |
Postpartum Depression |
54 |
0.031 |
|
300 |
|
|
SPH001 |
Sapho Syndrome |
54 |
0.031 |
|
301 |
|
|
ASP003 |
Aseptic Meningitis |
54 |
0.031 |
|
302 |
|
|
PRP032 |
Porphyria Variegata |
54 |
0.031 |
|
303 |
|
|
ISL001 |
Islet Cell Tumor |
54 |
0.031 |
|
304 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
54 |
0.031 |
|
305 |
|
|
RST001 |
Restless Legs Syndrome |
54 |
0.031 |
|
306 |
|
|
CLC001 |
Calciphylaxis |
53 |
0.031 |
|
307 |
|
|
HYD058 |
Hydrops, Lactic Acidosis, and Sideroblastic Anemia |
53 |
0.031 |
|
308 |
|
|
PRP016 |
Paraplegia |
53 |
0.031 |
|
309 |
|
|
HYP068 |
Hyperostosis |
52 |
0.031 |
|
310 |
|
|
OST011 |
Osteomalacia |
52 |
0.031 |
|
311 |
|
|
URM002 |
Uremia |
52 |
0.031 |
|
312 |
|
|
CLB010 |
Coloboma of Macula |
52 |
0.031 |
|
313 |
|
P
|
CHR345 |
Chronic Pain |
52 |
0.031 |
|
314 |
|
|
KND001 |
Kindler Syndrome |
52 |
0.031 |
|
315 |
|
|
SPN020 |
Spondylosis |
52 |
0.031 |
|
316 |
|
|
CLC006 |
Calcinosis |
51 |
0.031 |
|
317 |
|
|
ATN005 |
Autonomic Dysfunction |
51 |
0.031 |
|
318 |
|
|
ART140 |
Arteries, Anomalies of |
51 |
0.031 |
|
319 |
|
P
|
PRX021 |
Proximal Symphalangism |
51 |
0.031 |
|
320 |
|
|
BRX001 |
Bruxism |
51 |
0.031 |
|
321 |
|
|
HMR002 |
Hemarthrosis |
51 |
0.031 |
|
322 |
|
|
CHN070 |
Cohen-Gibson Syndrome |
51 |
0.031 |
|
323 |
|
|
PRS045 |
Prostatic Hypertrophy |
51 |
0.031 |
|
324 |
|
|
HYP806 |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy |
51 |
0.031 |
|
325 |
|
P
|
GND004 |
Gonadal Dysgenesis |
50 |
0.031 |
|
326 |
|
|
PRT029 |
Parathyroid Adenoma |
50 |
0.031 |
|
327 |
|
|
HYD012 |
Hydrops Fetalis |
50 |
0.031 |
|
328 |
|
|
PRT030 |
Parathyroid Gland Disease |
50 |
0.031 |
|
329 |
|
|
HMS001 |
Hemosiderosis |
50 |
0.031 |
|
330 |
|
|
ANS023 |
Anus, Imperforate |
50 |
0.031 |
|
331 |
|
|
SLD003 |
Sialadenitis |
49 |
0.031 |
|
332 |
|
|
BDY005 |
Body Mass Index Quantitative Trait Locus 9 |
49 |
0.031 |
|
333 |
|
|
MLT113 |
Multicentric Castleman Disease |
49 |
0.031 |
|
334 |
|
|
RNL011 |
Renal Osteodystrophy |
49 |
0.031 |
|
335 |
|
|
OCC006 |
Occipital Horn Syndrome |
49 |
0.031 |
|
336 |
|
|
HYP063 |
Hypersplenism |
49 |
0.031 |
|
337 |
|
P
|
GNT008 |
Giant Cell Tumor |
49 |
0.031 |
|
338 |
|
|
FBR009 |
Fibrous Dysplasia |
49 |
0.031 |
|
339 |
|
c
|
BRC078 |
Brachydactyly, Type A1 |
49 |
0.031 |
|
340 |
|
|
FRZ001 |
Frozen Shoulder |
48 |
0.031 |
|
341 |
|
|
PLM017 |
Pulmonary Alveolar Microlithiasis |
48 |
0.031 |
|
342 |
|
|
FSC004 |
Fasciitis |
48 |
0.031 |
|
343 |
|
|
CRT017 |
Cartilage Disease |
48 |
0.031 |
|
344 |
|
|
BDY019 |
Body Mass Index Quantitative Trait Locus 18 |
48 |
0.031 |
|
345 |
|
c
|
HYP293 |
Hypophosphatasia, Adult |
48 |
0.031 |
|
346 |
|
|
MLT006 |
Multidrug-Resistant Tuberculosis |
48 |
0.031 |
|
347 |
|
c
|
LBR014 |
Leber Congenital Amaurosis 4 |
48 |
0.031 |
|
348 |
|
P
|
SDR002 |
Siderosis |
48 |
0.031 |
|
349 |
|
c
|
ACT078 |
Acute Porphyria |
48 |
0.031 |
|
350 |
|
|
HYP025 |
Hyperphosphatemia |
48 |
0.031 |
|
351 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
47 |
0.031 |
|
352 |
|
P
|
MRD002 |
Marden-Walker Syndrome |
47 |
0.031 |
|
353 |
|
|
SYN031 |
Synovial Chondromatosis |
47 |
0.031 |
|
354 |
|
P
|
DNT011 |
Dentinogenesis Imperfecta |
47 |
0.031 |
|
355 |
|
|
MLT016 |
Multicentric Reticulohistiocytosis |
47 |
0.031 |
|
356 |
|
|
PLY012 |
Polyhydramnios |
47 |
0.031 |
|
357 |
|
P
|
CHN059 |
Chondrocalcinosis |
47 |
0.031 |
|
358 |
|
c
|
OPT051 |
Opitz Gbbb Syndrome, Type I |
47 |
0.031 |
|
359 |
|
|
ALP012 |
Alpha-Methylacyl-Coa Racemase Deficiency |
46 |
0.031 |
|
360 |
|
c
|
LSS005 |
Lissencephaly 1 |
46 |
0.031 |
|
361 |
|
|
SPS150 |
Spastic Ataxia, Charlevoix-Saguenay Type |
46 |
0.031 |
|
362 |
|
|
CLB002 |
Clubfoot |
46 |
0.031 |
|
363 |
|
|
SPN119 |
Spondylarthropathy |
46 |
0.031 |
|
364 |
|
|
BDY017 |
Body Mass Index Quantitative Trait Locus 14 |
46 |
0.031 |
|
365 |
|
|
BDY015 |
Body Mass Index Quantitative Trait Locus 12 |
46 |
0.031 |
|
366 |
|
|
MCL075 |
Macular Dystrophy, Corneal |
46 |
0.031 |
|
367 |
|
P
|
MLT072 |
Multiple Synostoses Syndrome |
46 |
0.031 |
|
368 |
|
|
PRX015 |
Paroxysmal Extreme Pain Disorder |
46 |
0.031 |
|
369 |
|
|
BCK006 |
Back Pain |
46 |
0.031 |
|
370 |
|
|
END072 |
Endotheliitis |
46 |
0.031 |
|
371 |
|
|
NTR003 |
Natural Killer Cell Leukemia |
45 |
0.031 |
|
372 |
|
|
TND004 |
Tendinopathy |
45 |
0.031 |
|
373 |
|
c
|
BRC079 |
Brachydactyly, Type A2 |
45 |
0.031 |
|
374 |
|
|
ONC003 |
Oncogenic Osteomalacia |
45 |
0.031 |
|
375 |
|
|
BDY010 |
Body Mass Index Quantitative Trait Locus 4 |
45 |
0.031 |
|
376 |
|
|
MLT018 |
Multiple Carboxylase Deficiency |
45 |
0.031 |
|
377 |
|
|
VLL003 |
Villonodular Synovitis |
45 |
0.031 |
|
378 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
45 |
0.031 |
|
379 |
|
|
BDY011 |
Body Mass Index Quantitative Trait Locus 10 |
45 |
0.031 |
|
380 |
|
|
OST004 |
Osteitis Fibrosa |
45 |
0.031 |
|
381 |
|
|
MCR037 |
Macroglossia |
44 |
0.031 |
|
382 |
|
|
SPN411 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related |
44 |
0.031 |
|
383 |
|
|
PST049 |
Postaxial Acrofacial Dysostosis |
44 |
0.031 |
|
384 |
|
|
GLM008 |
Glomus Tumor |
43 |
0.031 |
|
385 |
|
c
|
SPN297 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
43 |
0.031 |
|
386 |
|
c
|
HMC009 |
Hemochromatosis Type 2 |
43 |
0.031 |
|
387 |
|
|
HRD026 |
Hereditary Ataxia |
43 |
0.031 |
|
388 |
|
|
HYP189 |
Hypoadrenalism |
43 |
0.031 |
|
389 |
|
|
FRY002 |
Fryns Syndrome |
43 |
0.031 |
|
390 |
|
|
GNT031 |
Genitopatellar Syndrome |
43 |
0.031 |
|
391 |
|
|
HYD003 |
Hydrarthrosis |
43 |
0.031 |
|
392 |
|
|
BZX001 |
Bazex Syndrome |
43 |
0.031 |
|
393 |
|
|
PSD009 |
Pseudohermaphroditism |
42 |
0.031 |
|
394 |
|
|
CRT008 |
Carotid Artery Dissection |
42 |
0.031 |
|
395 |
|
|
DFF006 |
Diffuse Idiopathic Skeletal Hyperostosis |
42 |
0.031 |
|
396 |
|
|
GLC086 |
Glucocorticoid-Induced Osteoporosis |
42 |
0.031 |
|
397 |
|
|
BRS064 |
Bursitis |
42 |
0.031 |
|
398 |
|
|
BDY006 |
Body Mass Index Quantitative Trait Locus 8 |
42 |
0.031 |
|
399 |
|
|
BDY012 |
Body Mass Index Quantitative Trait Locus 7 |
42 |
0.031 |
|
400 |
|
|
MLK003 |
Melkersson-Rosenthal Syndrome |
42 |
0.031 |
|
401 |
|
|
CRN025 |
Corneal Dystrophy |
42 |
0.031 |
|
402 |
|
|
TND005 |
Tendinitis |
42 |
0.031 |
|
403 |
|
c
|
ALZ056 |
Alzheimer Disease 3 |
41 |
0.031 |
|
404 |
|
|
CHN053 |
Chondromyxoid Fibroma |
41 |
0.031 |
|
405 |
|
c
|
EHL071 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
41 |
0.031 |
|
406 |
|
|
OST097 |
Osteoporotic Fracture |
41 |
0.031 |
|
407 |
|
|
PNC016 |
Pancreatic Cholera |
41 |
0.031 |
|
408 |
|
|
PLS029 |
Plasminogen Activator Inhibitor-1 Deficiency |
41 |
0.031 |
|
409 |
|
|
SPN060 |
Spondylocarpotarsal Synostosis Syndrome |
41 |
0.031 |
|
410 |
|
c
|
HYP057 |
Hypervitaminosis D |
40 |
0.031 |
|
411 |
|
c
|
FBR046 |
Fibrosis of Extraocular Muscles, Congenital, 1 |
40 |
0.031 |
|
412 |
|
|
CMP080 |
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy |
40 |
0.031 |
|
413 |
|
|
ADR038 |
Adermatoglyphia |
40 |
0.031 |
|
414 |
|
|
PLY082 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy |
40 |
0.031 |
|
415 |
|
|
SCN001 |
Secondary Hyperparathyroidism of Renal Origin |
40 |
0.031 |
|
416 |
|
|
TTR025 |
Tetraamelia Syndrome, Autosomal Recessive |
40 |
0.031 |
|
417 |
|
|
MHR001 |
Mohr-Tranebjaerg Syndrome |
39 |
0.031 |
|
418 |
|
|
CRN286 |
Corneal Dystrophy, Meesmann |
39 |
0.031 |
|
419 |
|
|
CLR014 |
Clear Cell Adenoma |
39 |
0.031 |
|
420 |
|
|
PLY112 |
Polyarteritis Nodosa, Childhood-Onset |
39 |
0.031 |
|
421 |
|
c
|
PSR018 |
Psoriasis 13 |
39 |
0.031 |
|
422 |
|
|
HYP041 |
Hypochondrogenesis |
39 |
0.031 |
|
423 |
|
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
39 |
0.031 |
|
424 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
38 |
0.031 |
|
425 |
|
|
OPS002 |
Opsismodysplasia |
38 |
0.031 |
|
426 |
|
|
STV003 |
Stuve-Wiedemann Syndrome |
38 |
0.031 |
|
427 |
|
P
|
ATL001 |
Atelosteogenesis |
38 |
0.031 |
|
428 |
|
|
ENT004 |
Enthesopathy |
38 |
0.031 |
|
429 |
|
c
|
HYD060 |
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 |
38 |
0.031 |
|
430 |
|
c
|
CTR122 |
Cataract 5, Multiple Types |
38 |
0.031 |
|
431 |
|
|
OSG001 |
Osgood-Schlatter's Disease |
37 |
0.031 |
|
432 |
|
|
HYP007 |
Hypermobility Syndrome |
37 |
0.031 |
|
433 |
|
|
KSH004 |
Kashin-Beck Disease |
37 |
0.031 |
|
434 |
|
P
|
GLM006 |
Glomangioma |
37 |
0.031 |
|
435 |
|
P
|
HYP733 |
Hypercalciuria, Absorptive, 2 |
37 |
0.031 |
|
436 |
|
|
SXD001 |
Sex Differentiation Disease |
37 |
0.031 |
|
437 |
|
|
HMP018 |
Hemophilic Arthropathy |
37 |
0.031 |
|
438 |
|
P
|
ANX007 |
Anauxetic Dysplasia 1 |
36 |
0.031 |
|
439 |
|
|
OCH001 |
Ochronosis |
36 |
0.031 |
|
440 |
|
|
BRN118 |
Brain Small Vessel Disease with or Without Ocular Anomalies |
36 |
0.031 |
|
441 |
|
|
CHN011 |
Chondromalacia |
36 |
0.031 |
|
442 |
|
|
INT003 |
Intracranial Hypotension |
36 |
0.031 |
|
443 |
|
c
|
HYD043 |
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 |
36 |
0.031 |
|
444 |
|
|
MTT002 |
Metatropic Dysplasia |
35 |
0.031 |
|
445 |
|
|
CLC003 |
Cloacogenic Carcinoma |
35 |
0.031 |
|
446 |
|
|
CHR178 |
Chromosomal Triplication |
35 |
0.031 |
|
447 |
|
|
MNN028 |
Mononeuropathy of the Median Nerve, Mild |
35 |
0.031 |
|
448 |
|
|
PLN007 |
Plantar Fasciitis |
35 |
0.031 |
|
449 |
|
|
EPT021 |
Epithelial Recurrent Erosion Dystrophy |
35 |
0.031 |
|
450 |
|
|
OVR093 |
Overhydrated Hereditary Stomatocytosis |
35 |
0.031 |
|
451 |
|
|
PRN039 |
Paraneoplastic Syndromes |
35 |
0.031 |
|
452 |
|
|
MYC014 |
Mycobacterium Chelonae |
34 |
0.031 |
|
453 |
|
|
MNG003 |
Mungan Syndrome |
34 |
0.031 |
|
454 |
|
|
PHS001 |
Phosphorus Metabolism Disease |
34 |
0.031 |
|
455 |
|
|
HYD059 |
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect |
34 |
0.031 |
|
456 |
|
|
OST167 |
Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis |
34 |
0.031 |
|
457 |
|
|
LYS021 |
Loeys-Dietz Syndrome 3 |
33 |
0.031 |
|
458 |
|
|
PRS037 |
Periostitis |
33 |
0.031 |
|
459 |
|
|
GRW036 |
Growth Control, Y-Chromosome Influenced |
33 |
0.031 |
|
460 |
|
c
|
ATL015 |
Atelosteogenesis, Type Ii |
33 |
0.031 |
|
461 |
|
|
GST039 |
Gastroduodenitis |
33 |
0.031 |
|
462 |
|
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
33 |
0.031 |
|
463 |
|
|
MNR003 |
Mineral Metabolism Disease |
33 |
0.031 |
|
464 |
|
|
ULN001 |
Ulnar Neuropathy |
33 |
0.031 |
|
465 |
|
|
CRN273 |
Corneal Dystrophy, Subepithelial Mucinous |
32 |
0.031 |
|
466 |
|
|
CDS002 |
Codas Syndrome |
32 |
0.031 |
|
467 |
|
|
TTH001 |
Tooth Ankylosis |
32 |
0.031 |
|
468 |
|
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
32 |
0.031 |
|
469 |
|
c
|
INV003 |
Invasive Malignant Thymoma |
32 |
0.031 |
|
470 |
|
|
LYM014 |
Lymphangitis |
32 |
0.031 |
|
471 |
|
c
|
EPP017 |
Epiphyseal Dysplasia, Multiple, 1 |
31 |
0.031 |
|
472 |
|
|
HMM002 |
Haim-Munk Syndrome |
31 |
0.031 |
|
473 |
|
|
DYG001 |
Dyggve-Melchior-Clausen Disease |
31 |
0.031 |
|
474 |
|
|
BNR001 |
Bone Remodeling Disease |
31 |
0.031 |
|
475 |
|
|
ALG027 |
Al-Gazali-Bakalinova Syndrome |
31 |
0.031 |
|
476 |
|
|
FTL029 |
Fetal Thalidomide Syndrome |
30 |
0.031 |
|
477 |
|
|
EXT007 |
Extracutaneous Mastocytoma |
30 |
0.031 |
|
478 |
|
P
|
BRC003 |
Brachyolmia |
30 |
0.031 |
|
479 |
|
|
JXT001 |
Juxtacortical Chondroma |
30 |
0.031 |
|
480 |
|
|
THR017 |
Thoracoabdominal Syndrome |
30 |
0.031 |
|
481 |
|
|
PLY135 |
Polydactyly, Postaxial, with Progressive Myopia |
30 |
0.031 |
|
482 |
|
|
RBN014 |
Robin Sequence with Cleft Mandible and Limb Anomalies |
29 |
0.031 |
|
483 |
|
c
|
MLT141 |
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly |
29 |
0.031 |
|
484 |
|
c
|
FML169 |
Familial Osteochondritis Dissecans |
29 |
0.031 |
|
485 |
|
|
CSN001 |
Cousin Syndrome |
28 |
0.031 |
|
486 |
|
|
SPN340 |
Spontaneous Intracranial Hypotension |
28 |
0.031 |
|
487 |
|
|
VTR001 |
Vitreoretinal Dystrophy |
28 |
0.031 |
|
488 |
|
c
|
EPP014 |
Epiphyseal Dysplasia, Multiple, 4 |
28 |
0.031 |
|
489 |
|
|
DVL012 |
Developmental Dysplasia of the Hip 1 |
27 |
0.031 |
|
490 |
|
|
WGN003 |
Wagner Syndrome |
27 |
0.031 |
|
491 |
|
c
|
EPP013 |
Epiphyseal Dysplasia, Multiple, 5 |
27 |
0.031 |
|
492 |
|
|
PRR001 |
Periarthritis |
27 |
0.031 |
|
493 |
|
|
SCL022 |
Scleredema |
27 |
0.031 |
|
494 |
|
|
OCC008 |
Occipital Neuralgia |
27 |
0.031 |
|
495 |
|
|
PRG090 |
Progressive Relapsing Multiple Sclerosis |
26 |
0.031 |
|
496 |
|
|
PRF003 |
Piriformis Syndrome |
26 |
0.031 |
|
497 |
|
|
TRC037 |
Tracheobronchomalacia |
26 |
0.031 |
|
498 |
|
|
VTR002 |
Vitreous Syneresis |
25 |
0.031 |
|
499 |
|
|
IMP003 |
Impaired Renal Function Disease |
25 |
0.031 |
|
500 |
|
|
EXT012 |
Extraskeletal Chondroma |
25 |
0.031 |
|
501 |
|
|
PRS051 |
Parastremmatic Dwarfism |
25 |
0.031 |
|
502 |
|
|
SCL007 |
Sclerosing Hepatic Carcinoma |
25 |
0.031 |
|
503 |
|
|
CLF051 |
Cleft Larynx, Posterior |
24 |
0.031 |
|
504 |
|
|
FLR007 |
Failure of Tooth Eruption, Primary |
23 |
0.031 |
|
505 |
|
|
BLD163 |
Blood Group, Dombrock System |
23 |
0.031 |
|
506 |
|
|
NTR027 |
Neutrophil Actin Dysfunction |
23 |
0.031 |
|
507 |
|
|
PRN008 |
Peroneal Nerve Paralysis |
23 |
0.031 |
|
508 |
|
P
|
JVN024 |
Juvenile Hereditary Hemochromatosis |
22 |
0.031 |
|
509 |
|
c
|
FML324 |
Familial Porphyria Cutanea Tarda |
22 |
0.031 |
|
510 |
|
c
|
DSB005 |
Desbuquois Dysplasia 2 |
22 |
0.031 |
|
511 |
|
|
FBR010 |
Fibrogenesis Imperfecta Ossium |
22 |
0.031 |
|
512 |
|
|
SPN359 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
22 |
0.031 |
|
513 |
|
|
ATL010 |
Atlantoaxial Subluxation |
21 |
0.031 |
|
514 |
|
|
ANT051 |
Anterior Cruciate Ligament Tears |
21 |
0.031 |
|
515 |
|
|
EPP022 |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness |
21 |
0.031 |
|
516 |
|
P
|
CNG070 |
Congenital Dislocation of the Patella |
21 |
0.031 |
|
517 |
|
|
PPL054 |
Popliteal Cyst |
20 |
0.031 |
|
518 |
|
|
RNL089 |
Renal Nutcracker Syndrome |
20 |
0.031 |
|
519 |
|
|
PLY150 |
Polykaryocytosis Inducer |
20 |
0.031 |
|
520 |
|
P
|
CLL020 |
Collagenopathy Type 2 Alpha 1 |
20 |
0.031 |
|
521 |
|
|
DFF027 |
Diffuse Lymphatic Malformation |
19 |
0.031 |
|
522 |
|
|
VRT002 |
Vertebral Artery Insufficiency |
19 |
0.031 |
|
523 |
|
|
SPN189 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
18 |
0.031 |
|
524 |
|
|
THM005 |
Thumb Deformity |
18 |
0.031 |
|
525 |
|
|
MGR035 |
Migraine with Brainstem Aura |
17 |
0.031 |
|
526 |
|
|
BLD153 |
Blood Group--Swann System |
17 |
0.031 |
|
527 |
|
P
|
FML048 |
Familial Avascular Necrosis of the Femoral Head |
17 |
0.031 |
|
528 |
|
|
HDC005 |
Headache Associated with Sexual Activity |
17 |
0.031 |
|
529 |
|
|
XP2001 |
Xp22.3 Microdeletion Syndrome |
17 |
0.031 |
|
530 |
|
c
|
NNT025 |
Neonatal Systemic Lupus Erythematosus |
16 |
0.031 |
|
531 |
|
|
EPP019 |
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia |
14 |
0.031 |
|
532 |
|
|
TRC064 |
Trochlear Dysplasia |
13 |
0.031 |
|
533 |
|
|
EPP018 |
Epiphyseal Dysplasia, Multiple, with Miniepiphyses |
13 |
0.031 |
|
534 |
|
|
INT147 |
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
11 |
0.031 |
|
535 |
|
|
HND010 |
Handigodu Disease |
11 |
0.031 |
|
536 |
|
|
BRC020 |
Brachydactylous Dwarfism Mseleni Type |
5 |
0.031 |
|
537 |
|
|
MSM020 |
Mesomelic Dysplasia, Camera Type |
4 |
0.031 |
|
538 |
|
|
DPP001 |
Dappled Diaphyseal Dysplasia |
3 |
0.031 |
|
539 |
|
|
MRT005 |
Maroteaux Stanescu Cousin Syndrome |
3 |
0.031 |
|