Carnosinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
0.500 |
2 |
|
1968 |
2018 |
Homocarnosinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
1968 |
1968 |
Homocarnosinase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
1968 |
1968 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
None |
1.000 |
2 |
|
1972 |
1973 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
2 |
|
1972 |
1973 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
2 |
|
1972 |
1973 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
2 |
|
1972 |
1973 |
Neurologic Dysfunction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Focal Neurologic Deficits
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Neurologic Deficits
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
4
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Neurologic Manifestations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Neurological observations
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Neurologic Signs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
1
|
0.300 |
None |
1.000 |
1 |
|
1972 |
1972 |
Hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
131
|
27
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1189
|
238
|
0.400 |
None |
0.929 |
28 |
1
|
2005 |
2019 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.090 |
None |
1.000 |
9 |
|
2005 |
2019 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
< 0.001 |
1 |
|
2006 |
2006 |
Coronary Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1282
|
440
|
0.010 |
None |
< 0.001 |
1 |
|
2006 |
2006 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.010 |
None |
< 0.001 |
1 |
|
2006 |
2006 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.050 |
None |
1.000 |
5 |
|
2007 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2016 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2016 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2016 |
Nodular glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
59
|
|
0.300 |
None |
1.000 |
3 |
|
2007 |
2011 |