Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
2
|
2010 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
2
|
2010 |
2017 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Arnold Chiari Malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
53
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
SIFRIM-HITZ-WEISS SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.600 |
None |
1.000 |
2 |
7
|
2016 |
2016 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Vascular rupture
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Idiopathic Inflammatory Myopathies
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
106
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Gatad2b associated neurodevelopmental disorder
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Vesico-Ureteral Reflux
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
187
|
23
|
0.100 |
None |
|
0 |
|
|
|