Aplastic/hypoplastic toenail
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Leukomalacia, Periventricular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
10
|
0.100 |
None |
|
0 |
|
|
|
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Breast adenocarcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
219
|
7
|
0.300 |
None |
|
0 |
|
|
|
Aneurysm of aortic arch
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Absent toe
|
disease |
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Right atrial enlargement
|
disease |
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatic Fibrosis, Congenital
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
63
|
2
|
0.100 |
None |
|
0 |
|
|
|
Carcinoma in situ of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
41
|
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.100 |
None |
|
0 |
|
|
|
Thoracic aorta calcification
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Ascending aortic dissection
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dystrophic toenail
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Esophageal Varices
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
56
|
5
|
0.100 |
None |
|
0 |
|
|
|