2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
85
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Abnormal coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
4
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal myelination
|
phenotype |
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellum
|
group |
Nervous System Diseases
|
Finding
|
55
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the tonsils
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Absence Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
89
|
17
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2015 |
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
2
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.400 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Adiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
762
|
24
|
0.040 |
None |
1.000 |
4 |
|
1989 |
2014 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2012 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2012 |
alpha^0^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Appendicular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Asthma chronic
|
disease |
|
Disease or Syndrome
|
36
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.450 |
None |
1.000 |
6 |
|
1997 |
2019 |
Ataxia, Appendicular
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |