External Carotid Artery Diseases
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Internal Carotid Artery Diseases
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Arterial Diseases, Common Carotid
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Aplasia of the semicircular canal
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Noonan syndrome-like disorder with loose anagen hair
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.300 |
|
|
0 |
|
|
|
Abnormal platelet function
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Noonan-Like Syndrome With Loose Anagen Hair
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
4
|
0.300 |
|
|
0 |
|
|
|
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
35
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Enlarged thorax
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the spleen
|
disease |
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cardio-facio-cutaneous syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
28
|
82
|
0.300 |
|
|
0 |
|
|
|
Abnormal hair quantity
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the abdominal wall musculature
|
phenotype |
|
Finding
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
36
|
2
|
0.100 |
None |
|
0 |
|
|
|
Thickened helices
|
phenotype |
|
Finding
|
37
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Familial hypercholesterolemia - heterozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
42
|
34
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Lymphangioma, Cystic
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal dermatoglyphic pattern
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
LEOPARD Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
27
|
0.300 |
|
|
0 |
|
|
|
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.300 |
|
|
0 |
|
|
|
Electrocardiogram: P-R interval
|
phenotype |
|
Finding
|
57
|
138
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Thickened nuchal skin fold
|
phenotype |
|
Finding
|
58
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Coarse hair
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|