Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.100 |
None |
|
0 |
|
|
|
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Atrial Flutter
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Channelopathies
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
94
|
8
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2017 |
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Contractures of the large joints
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
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
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Macroorchidism
|
disease |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|