Abnormal form of the vertebral bodies
|
phenotype |
|
Finding
|
89
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal heart valve morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sternal ossification
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Absence of septum pellucidum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
2
|
0.100 |
None |
|
0 |
|
|
|
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Accessory spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Adenocarcinoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
543
|
432
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Aplasia cutis congenita of scalp
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
116
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the lungs
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the nipples
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
102
|
25
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Atonic Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
|
|
|
Bladder Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2130
|
281
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Calvarial skull defect
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2104
|
309
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
6
|
0.100 |
None |
|
0 |
|
|
|