Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of finger
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellar vermis
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Metatarsal Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Frontonasal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
8
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|
Oculocerebrorenal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
42
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1998 |
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
moderate |
1.000 |
2 |
8
|
2017 |
2017 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Marinesco-Sjogren syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
133
|
8
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Postpericardiotomy Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |