Hypercholanemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
3
|
0.710 |
limited |
1.000 |
2 |
2
|
2003 |
2014 |
Cholestasis, progressive familial intrahepatic 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
13
|
0.700 |
None |
1.000 |
2 |
13
|
2014 |
2014 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.510 |
limited |
1.000 |
2 |
|
2011 |
2014 |
Intrahepatic Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
54
|
3
|
0.410 |
None |
1.000 |
2 |
|
2014 |
2019 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.310 |
limited |
1.000 |
6 |
|
2008 |
2015 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Refractive Errors
|
group |
Eye Diseases
|
Disease or Syndrome
|
71
|
75
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Abnormality of refraction
|
disease |
|
Anatomical Abnormality
|
28
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.100 |
None |
|
0 |
|
|
|
Steatorrhea
|
phenotype |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.100 |
None |
|
0 |
|
|
|
Pruritus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
107
|
2
|
0.100 |
None |
|
0 |
|
|
|
Portal Hypertension
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
167
|
9
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Increased serum bile acid concentration
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.100 |
None |
|
0 |
|
|
|
Progressive intrahepatic cholestasis (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
31
|
10
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cholestatic liver disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
58
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Cholestasis, progressive familial intrahepatic 1
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
38
|
19
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
FRIEDREICH ATAXIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
119
|
24
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Ductal Breast Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
196
|
10
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Ductal Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
273
|
11
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |