Reduced catalase activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Oral Ulcer
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
104
|
101
|
0.100 |
None |
|
0 |
|
|
|
Chronic granulomatous disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
105
|
23
|
0.100 |
None |
1.000 |
12 |
|
1977 |
2019 |
Granulomatous Disease, Chronic, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
75
|
0.020 |
None |
1.000 |
2 |
|
1977 |
2008 |
Peroxisome Biogenesis Disorder, Complementation Group D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
4
|
0.020 |
None |
1.000 |
2 |
|
1977 |
2008 |
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 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.100 |
None |
1.000 |
12 |
|
1980 |
2019 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.100 |
None |
1.000 |
10 |
|
1980 |
2019 |
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 |
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 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.090 |
None |
1.000 |
9 |
|
1981 |
1989 |
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
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 |
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 |
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 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.040 |
None |
1.000 |
4 |
|
1982 |
2015 |
Dermatitis, Phototoxic
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
89
|
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.090 |
None |
1.000 |
9 |
|
1985 |
2008 |
Herpes Simplex Infections
|
group |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
645
|
11
|
0.030 |
None |
1.000 |
3 |
|
1985 |
2001 |
Superinfection
|
group |
Infections
|
Disease or Syndrome
|
85
|
|
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 |
Cerebellar cortical atrophy
|
disease |
|
Disease or Syndrome
|
9
|
7
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.400 |
None |
1.000 |
47 |
|
1986 |
2020 |
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 |
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
11
|
0.020 |
None |
1.000 |
2 |
|
1986 |
1991 |