Tyrosinemia, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
56
|
1.000 |
definitive |
0.990 |
101 |
55
|
1981 |
2019 |
Tyrosinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
3
|
0.500 |
None |
0.967 |
30 |
3
|
1985 |
2018 |
Tyrosine Transaminase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
18
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2014 |
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 |
1.000 |
2 |
|
2003 |
2014 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
13
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.300 |
strong |
1.000 |
1 |
|
2005 |
2005 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.240 |
None |
1.000 |
4 |
|
2000 |
2017 |
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.220 |
None |
1.000 |
3 |
|
2000 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.160 |
None |
1.000 |
6 |
|
2000 |
2019 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.140 |
None |
1.000 |
4 |
|
2000 |
2017 |
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Liver Failure, Acute
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
282
|
21
|
0.110 |
None |
1.000 |
1 |
|
1997 |
1997 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.100 |
None |
1.000 |
10 |
|
1995 |
1999 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
2 |
1
|
2018 |
2018 |
Episodic peripheral neuropathy
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Elevated urinary delta-aminolevulinic acid
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated alpha-fetoprotein
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the abdominal wall
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Glomerulosclerosis (disorder)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
221
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized aminoaciduria
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Enlarged kidney
|
phenotype |
|
Finding
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|