Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Shagreen patch
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of ascending aorta
|
phenotype |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
34
|
16
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hiatal Hernia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Joint hyperflexibility
|
phenotype |
|
Finding
|
181
|
12
|
0.100 |
None |
|
0 |
|
|
|
Keratoglobus
|
disease |
|
Anatomical Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the gingiva
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Genital hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the ear cartilage
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the abdominal wall musculature
|
phenotype |
|
Finding
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nasal morphology
|
disease |
|
Anatomical Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Malar prominence
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Cigarette-paper scars
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the tongue
|
phenotype |
|
Finding
|
25
|
2
|
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 |
|
|
|
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Soft, doughy skin
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized joint laxity
|
phenotype |
|
Finding
|
44
|
6
|
0.100 |
None |
|
0 |
|
|
|
High, narrow palate
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|