Hereditary Nonpolyposis Colorectal Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
174
|
1331
|
0.300 |
limited |
1.000 |
2 |
|
2014 |
2016 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
24
|
179
|
0.300 |
limited |
1.000 |
2 |
|
2014 |
2016 |
Familial Colorectal Cancer Type X
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
14
|
1
|
0.310 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
RETINITIS PIGMENTOSA 35
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
2 |
2
|
2006 |
2012 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.310 |
moderate |
1.000 |
1 |
|
2006 |
2006 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
CONE-ROD DYSTROPHY 10
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
1 |
2
|
2006 |
2006 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.310 |
None |
1.000 |
1 |
|
2006 |
2006 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
23
|
154
|
0.300 |
limited |
1.000 |
2 |
|
2014 |
2016 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malabsorption
|
phenotype |
Digestive System Diseases
|
Finding
|
175
|
3
|
0.100 |
None |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Colonic Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
947
|
45
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.100 |
None |
|
0 |
|
|
|
Rectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
93
|
21
|
0.100 |
None |
|
0 |
|
|
|
Adenocarcinoma of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
518
|
138
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.310 |
None |
1.000 |
1 |
|
2006 |
2006 |
Photoreceptor degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
136
|
16
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.100 |
None |
|
0 |
|
|
|
Keratoconus
|
disease |
Eye Diseases
|
Disease or Syndrome
|
269
|
83
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|