Clinodactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
160
|
7
|
0.100 |
None |
|
0 |
|
|
|
Dilatation of aorta
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.100 |
None |
|
0 |
|
|
|
Honeycomb lung
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Fragile skin
|
phenotype |
|
Finding
|
26
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Acanthosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Oral mucosal blisters
|
phenotype |
|
Sign or Symptom
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Ulcer of esophagus
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Premature ventricular contractions
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
56
|
13
|
0.100 |
None |
|
0 |
|
|
|
Electrocardiogram change
|
phenotype |
|
Finding
|
18
|
27
|
0.100 |
None |
|
0 |
2
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Alopecia universalis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis, Epidermolytic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
20
|
35
|
0.100 |
None |
|
0 |
|
|
|
Widely spaced toes
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Left-Sided Heart Failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
123
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Gingival Recession
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Chest Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
154
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Coughing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
235
|
16
|
0.100 |
None |
|
0 |
|
|
|
Reticular pattern on pulmonary HRCT
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Ground-glass opacification on pulmonary HRCT
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse and thin eyebrow
|
phenotype |
|
Finding
|
68
|
8
|
0.100 |
None |
|
0 |
|
|
|
Patchy palmoplantar keratoderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|