PROTOPORPHYRIA, ERYTHROPOIETIC, 1
|
disease |
|
Disease or Syndrome
|
1
|
25
|
0.600 |
None |
1.000 |
21 |
25
|
1991 |
2017 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Bovine Protoporphyria
|
disease |
|
Disease or Syndrome
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
1982 |
1998 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Skin symptom
|
phenotype |
|
Sign or Symptom
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Absent pituitary
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Erythroleukemia
|
disease |
|
Neoplastic Process
|
236
|
4
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Erythropoietic Protoporphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
24
|
3
|
0.800 |
strong |
0.992 |
125 |
3
|
1977 |
2020 |
Ferrochelatase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
6 |
|
1999 |
2018 |
Variegate Porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
21
|
24
|
0.030 |
None |
1.000 |
3 |
|
1977 |
2002 |
Porphyrias, Hepatic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
7
|
|
0.210 |
None |
1.000 |
2 |
|
1984 |
2004 |
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 |
|
2002 |
2002 |
Porphyria Cutanea Tarda
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
30
|
39
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Von Hippel-Lindau Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
174
|
187
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Porphyria, Erythropoietic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
26
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2019 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.080 |
None |
1.000 |
8 |
|
1994 |
2009 |
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.140 |
None |
1.000 |
4 |
|
1993 |
2009 |
Hepatobiliary disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
14
|
|
0.020 |
None |
1.000 |
2 |
|
1992 |
2006 |