Reduced catalase activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Oral Ulcer
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
104
|
101
|
0.100 |
None |
|
0 |
|
|
|
Acute intermittent porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
103
|
68
|
0.010 |
None |
1.000 |
1 |
|
1978 |
1978 |
Kernicterus
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Werner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
71
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Gonadoblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
34
|
2
|
0.030 |
None |
1.000 |
3 |
|
1980 |
1983 |
Dermatitis, Phototoxic
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
89
|
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Cerebellar cortical atrophy
|
disease |
|
Disease or Syndrome
|
9
|
7
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Superinfection
|
group |
Infections
|
Disease or Syndrome
|
85
|
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Teratocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
141
|
1
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Pituitary Diseases
|
group |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
153
|
3
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Pseudorabies
|
disease |
Infections; Nervous System Diseases; Animal Diseases
|
Disease or Syndrome
|
49
|
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Pheochromocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
344
|
186
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Adrenal Gland Pheochromocytoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
416
|
50
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
NONAKA MYOPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
132
|
81
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.090 |
None |
1.000 |
9 |
|
1981 |
1989 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.020 |
None |
0.500 |
2 |
|
1986 |
1989 |
WAGR Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
13
|
11
|
0.020 |
None |
1.000 |
2 |
|
1980 |
1989 |
Pulmonary Thromboembolisms
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
33
|
6
|
0.300 |
None |
1.000 |
1 |
|
1989 |
1989 |
Pulmonary Embolism
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Pathologic Function
|
93
|
16
|
0.300 |
None |
1.000 |
1 |
|
1989 |
1989 |