Abnormal joint morphology
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal lung lobation
|
disease |
Respiratory Tract Diseases
|
Congenital Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Adenocarcinoma, Clear Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
117
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adenocarcinoma, Endometrioid
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
130
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bowen-Conradi syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
1
|
0.960 |
moderate |
1.000 |
7 |
1
|
2009 |
2019 |
Carcinoma, Endometrioid
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
223
|
12
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Carcinosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
94
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.040 |
None |
1.000 |
4 |
|
2004 |
2018 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Ewings sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
25
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2018 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Fatty acid measurement
|
group |
|
Laboratory Procedure
|
50
|
116
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
HIV Coinfection
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
129
|
3
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
HIV Infections
|
group |
Infections; Immune System Diseases
|
Disease or Syndrome
|
807
|
142
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |