Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of mouth size
|
phenotype |
|
Anatomical Abnormality
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
19 |
1
|
1997 |
2014 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
< 0.001 |
1 |
|
2013 |
2013 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
1
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
1
|
|
|
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
1
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Infantile Severe Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
63
|
32
|
0.900 |
definitive |
0.974 |
269 |
25
|
2001 |
2020 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
57
|
43
|
0.100 |
None |
0.966 |
204 |
19
|
2003 |
2020 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.500 |
None |
0.977 |
175 |
14
|
2001 |
2020 |
Early Infantile Epileptic Encephalopathy 6
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
392
|
0.800 |
None |
1.000 |
75 |
390
|
2000 |
2018 |
Generalized Epilepsy with Febrile Seizures Plus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.600 |
definitive |
0.983 |
58 |
6
|
2000 |
2017 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.700 |
None |
0.939 |
49 |
9
|
2002 |
2020 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.420 |
strong |
1.000 |
40 |
59
|
2001 |
2019 |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
4
|
58
|
0.730 |
None |
1.000 |
39 |
58
|
2000 |
2012 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
disease |
|
Disease or Syndrome
|
11
|
76
|
0.100 |
None |
1.000 |
37 |
50
|
1991 |
2018 |
Epileptic Syndromes
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
2
|
0.100 |
None |
1.000 |
30 |
|
2002 |
2020 |
Familial Hemiplegic Migraine
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
24
|
17
|
0.100 |
None |
1.000 |
24 |
2
|
2005 |
2019 |