Fragile skin
|
phenotype |
|
Finding
|
26
|
5
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
|
|
|
Widely spaced toes
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Right ventricular cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
15
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
CUI: |
C0034642 |
Disease: |
Rales
|
Rales
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.100 |
None |
|
0 |
|
|
|
Phimosis
|
phenotype |
Male Urogenital Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Skin Erosion
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
225
|
2
|
0.100 |
None |
|
0 |
|
|
|
Parakeratosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.100 |
None |
|
0 |
|
|
|
Natal Teeth
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Wooly hair
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Left ventricular noncompaction cardiomyopathy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
39
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
71
|
0.100 |
None |
|
0 |
2
|
|
|
Patchy palmoplantar keratoderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Long QT Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
105
|
349
|
0.100 |
None |
|
0 |
1
|
|
|
Tachycardia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
73
|
8
|
0.100 |
None |
|
0 |
|
|
|
Palmoplantar keratosis with erythema and scale
|
phenotype |
|
Finding
|
1
|
|
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 |
|
|
|
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.100 |
None |
|
0 |
|
|
|
Dilatation of aorta
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Hereditary bundle branch system defect
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
7
|
16
|
0.100 |
None |
|
0 |
1
|
|
|