Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cleft lip or lips
|
phenotype |
|
Anatomical Abnormality
|
78
|
37
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
1
|
2012 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
2
|
2012 |
2016 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.320 |
strong |
1.000 |
3 |
|
2014 |
2017 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2017 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.310 |
strong |
1.000 |
2 |
|
2015 |
2016 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Congenital omphalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
85
|
13
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
Generalized Thyroid Hormone Resistance
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
45
|
34
|
0.400 |
strong |
1.000 |
18 |
1
|
1988 |
2019 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.200 |
None |
0.909 |
11 |
1
|
2009 |
2020 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
strong |
1.000 |
6 |
7
|
2012 |
2016 |
Thyroid Hormone Resistance Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.230 |
None |
1.000 |
4 |
|
1993 |
2019 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.320 |
strong |
1.000 |
3 |
|
2014 |
2017 |
Erythroblastosis
|
disease |
|
Disease or Syndrome
|
89
|
|
0.020 |
None |
1.000 |
2 |
|
1993 |
2001 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
< 0.001 |
1 |
1
|
2011 |
2011 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Coronary Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1282
|
440
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |