Tyrosine Transaminase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
18
|
0.800 |
definitive |
1.000 |
20 |
18
|
1969 |
2019 |
Tyrosinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
3
|
0.420 |
None |
1.000 |
2 |
|
1984 |
2006 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
strong |
1.000 |
2 |
|
1982 |
2017 |
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
39
|
6
|
0.300 |
strong |
|
0 |
|
|
|
Tyrosinemia, Type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
6
|
0.300 |
None |
|
0 |
|
|
|
Tyrosinemia, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
56
|
0.300 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Human immunodeficiency virus (HIV) II infection category B1
|
disease |
|
Disease or Syndrome
|
985
|
56
|
0.100 |
None |
1.000 |
72 |
|
1989 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
36 |
1
|
1987 |
2020 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
1.000 |
17 |
|
2000 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
17 |
|
2000 |
2019 |
HIV-1 infection
|
disease |
|
Disease or Syndrome
|
695
|
94
|
0.100 |
None |
1.000 |
10 |
|
1994 |
2019 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
7
|
2012 |
2012 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of amino acid metabolism
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperhidrosis disorder
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
114
|
7
|
0.100 |
None |
|
0 |
|
|
|
4-Hydroxyphenylpyruvic aciduria
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Herpetiform corneal ulceration
|
disease |
Infections; Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|