Cystic Fibrosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
Disease or Syndrome
852
704
0.020
None
1.000
2
1985
1986
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.010
None
1.000
1
1998
1998
Congenital defects
group
Congenital Abnormality
126
6
0.010
None
1.000
1
1998
1998
Neuropathy
group
Nervous System Diseases
Disease or Syndrome
484
110
0.010
None
1.000
1
1998
1998
Hypertriglyceridemia
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
340
169
0.010
None
1.000
1
2001
2001
Left Ventricular Hypertrophy
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
403
67
0.010
None
1.000
1
2001
2001
ARTERIAL TORTUOSITY SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Disease or Syndrome
37
23
0.010
None
1.000
1
2002
2002
Drug usage
phenotype
Chemically-Induced Disorders; Mental Disorders
Mental or Behavioral Dysfunction
170
21
0.010
None
1.000
1
2002
2002
Alport Syndrome, X-Linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
Disease or Syndrome
13
8
0.010
None
1.000
1
2002
2002
Cirrhosis
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
919
110
0.010
None
1.000
1
2002
2002
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.110
None
1.000
1
2002
2002
Andersen Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Disease or Syndrome
23
38
0.010
None
1.000
1
2002
2002
Hepatitis, Chronic
disease
Digestive System Diseases
Disease or Syndrome
224
10
0.010
None
1.000
1
2002
2002
AURAL ATRESIA, CONGENITAL
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Disease or Syndrome
110
29
0.010
None
< 0.001
1
2002
2002
Atherosclerosis of aorta
phenotype
Cardiovascular Diseases
Disease or Syndrome
37
1
0.010
None
1.000
1
2002
2002
Alcoholic Intoxication
disease
Chemically-Induced Disorders; Mental Disorders
Mental or Behavioral Dysfunction
52
4
0.300
None
1.000
1
2003
2003
Double coronary vessel disease
disease
Cardiovascular Diseases
Disease or Syndrome
1
0.010
None
1.000
1
2003
2003
Macrovascular disease
disease
Disease or Syndrome
23
1
0.010
None
1.000
1
2003
2003
Prostate cancer, familial
disease
Neoplasms; Male Urogenital Diseases
Neoplastic Process
116
25
0.010
None
1.000
1
2003
2003
Alzheimer Disease, Late Onset
disease
Nervous System Diseases; Mental Disorders
Mental or Behavioral Dysfunction
385
243
0.010
None
1.000
1
1
2003
2003
Ischemia
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
103
0.010
None
1.000
1
2003
2003
Alzheimer disease, familial, type 3
disease
Nervous System Diseases; Mental Disorders
Disease or Syndrome
213
124
0.010
None
1.000
1
1
2003
2003
Hyperlipoproteinemias
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
49
7
0.500
None
1.000
2
2000
2004
Androgen-Insensitivity Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
247
176
0.020
None
0.500
2
1
2002
2004
Liver neoplasms
group
Digestive System Diseases; Neoplasms
Neoplastic Process
1424
7
0.010
None
1.000
1
2004
2004