Abnormal aldolase level
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal lactate dehydrogenase activity
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of finger
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellar vermis
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Acute Cerebrovascular Accidents
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
155
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anxiety Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
840
|
163
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Avascular necrosis of the capital femoral epiphysis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
|
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 |
|
2014 |
2014 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2104
|
309
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |