Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
11 |
1
|
2008 |
2017 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.030 |
None |
1.000 |
3 |
|
1993 |
2019 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.030 |
None |
1.000 |
3 |
2
|
2002 |
2013 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.020 |
None |
1.000 |
2 |
|
1993 |
2019 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.020 |
None |
1.000 |
2 |
|
1993 |
2019 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Oral cleft
|
disease |
|
Congenital Abnormality
|
85
|
28
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.400 |
None |
1.000 |
23 |
|
1991 |
2019 |
Absence Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
89
|
17
|
0.500 |
None |
0.917 |
12 |
3
|
1999 |
2019 |
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.100 |
None |
1.000 |
12 |
|
1991 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.390 |
None |
1.000 |
11 |
2
|
1998 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
11 |
1
|
2008 |
2017 |
Childhood Absence Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
33
|
13
|
0.400 |
None |
0.900 |
10 |
3
|
1999 |
2019 |
Lennox-Gastaut syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
2
|
0.340 |
None |
1.000 |
6 |
1
|
2013 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.600 |
None |
1.000 |
6 |
8
|
2013 |
2017 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.150 |
None |
1.000 |
5 |
2
|
2013 |
2019 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
EPILEPSY, CHILDHOOD ABSENCE, 1
|
disease |
|
Disease or Syndrome
|
6
|
5
|
0.400 |
None |
1.000 |
3 |
3
|
2008 |
2017 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2017 |