Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Linear atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
149
|
6
|
0.100 |
None |
|
0 |
|
|
|
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2020 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short fifth metatarsal
|
disease |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the musculature
|
phenotype |
|
Anatomical Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Constrictive median neuropathy
|
disease |
Nervous System Diseases
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased bone density with cystic changes
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the parathyroid gland
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Common Bile Duct Calculi
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Body Substance
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Biliary calculi
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Body Substance
|
48
|
31
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Fibrous Dysplasia
|
disease |
|
Congenital Abnormality
|
53
|
5
|
0.100 |
None |
1.000 |
35 |
3
|
1996 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
1993 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
10 |
2
|
1993 |
2017 |
Polyostotic fibrous dysplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
18
|
2
|
0.650 |
None |
1.000 |
9 |
1
|
1991 |
2017 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.450 |
None |
1.000 |
6 |
3
|
2003 |
2013 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.140 |
None |
0.750 |
4 |
|
2003 |
2018 |
Phocomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
9
|
1
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2012 |
Madelung Deformity
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
8
|
2
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2011 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |