Hyperlipidemia, Familial Combined
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
91
|
28
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hemoglobin measurement
|
phenotype |
|
Laboratory Procedure
|
131
|
224
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hematocrit procedure
|
phenotype |
|
Laboratory Procedure
|
138
|
216
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Anastomosis
|
disease |
|
Acquired Abnormality
|
155
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Exudative age-related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
158
|
109
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Alcoholic Liver Diseases
|
group |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
195
|
20
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Rhinovirus infection
|
disease |
Infections
|
Disease or Syndrome
|
202
|
4
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2019 |
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.410 |
strong |
1.000 |
3 |
|
2005 |
2008 |
Complications of Diabetes Mellitus
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
240
|
35
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.100 |
None |
|
0 |
|
|
|
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.200 |
None |
1.000 |
1 |
|
1996 |
1996 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
2 |
8
|
2012 |
2013 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |