ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cholinergic urticaria
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Urticaria due to cold
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases; Wounds and Injuries
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Decreased Concentration
|
phenotype |
|
Sign or Symptom
|
27
|
1
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Chronic active hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
122
|
34
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Pseudotumor Cerebri
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
33
|
8
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.030 |
None |
0.667 |
3 |
|
1985 |
1990 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Idiopathic osteoarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
12
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Generalized osteoarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
10
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.030 |
None |
1.000 |
3 |
|
1985 |
1993 |
ALZHEIMER DISEASE 2
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
16
|
2
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
disease |
|
Disease or Syndrome
|
34
|
3
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Microspherocytosis
|
disease |
|
Disease or Syndrome
|
13
|
1
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Dementia due to Alzheimer's disease (disorder)
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
35
|
1
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Gastrointestinal Carcinoid Tumor
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
323
|
13
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Leprosy
|
disease |
Infections
|
Disease or Syndrome
|
190
|
120
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.010 |
None |
1.000 |
1 |
1
|
1998 |
1998 |
Lung Diseases, Obstructive
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
104
|
4
|
0.030 |
None |
1.000 |
3 |
1
|
1993 |
1999 |
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1999 |
Malignant Fibrous Histiocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
150
|
3
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |