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
|
0.900 |
None |
1.000 |
64 |
21
|
1981 |
2019 |
Homozygous 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
|
1
|
4
|
0.110 |
None |
1.000 |
1 |
4
|
1987 |
1987 |
Abnormal blistering of the skin
|
phenotype |
|
Finding
|
75
|
10
|
0.100 |
None |
|
0 |
2
|
|
|
Disorders of Porphyrin Metabolism
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
7
|
0.050 |
None |
1.000 |
5 |
1
|
1997 |
2011 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Porphyruria
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abdominal colic
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
phenotype |
|
Finding
|
20
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Urine Discoloration
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
1
|
|
|
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
|
0.040 |
None |
1.000 |
4 |
|
2002 |
2015 |
Porphobilinogen synthase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
5
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2010 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hypogonadism, Isolated Hypogonadotropic
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
42
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hydroxymethylbilane Synthase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1649
|
88
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hepatocarcinogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
855
|
24
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Acute interstitial pneumonia
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
88
|
8
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Early gastric cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
100
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hereditary Coproporphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
11
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |