Macular corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Stromal Dystrophies, Corneal
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
1
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Avellino corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
115
|
14
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.100 |
None |
|
0 |
|
|
|
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.320 |
None |
1.000 |
2 |
|
2004 |
2012 |
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
7
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Greig cephalopolysyndactyly syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
14
|
19
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Radial polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
51
|
3
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Pallister-Hall syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
39
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2012 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2006 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2006 |
Amyloidosis cutis dyschromia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
84
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Keratoconus
|
disease |
Eye Diseases
|
Disease or Syndrome
|
269
|
83
|
0.500 |
None |
0.871 |
31 |
12
|
2002 |
2019 |
Keratoconus 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
28
|
0.700 |
None |
1.000 |
7 |
8
|
2002 |
2011 |
Retinal defect
|
phenotype |
Eye Diseases
|
Anatomical Abnormality
|
13
|
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2017 |
Corneal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
47
|
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |