Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.020 |
None |
1.000 |
2 |
1
|
2013 |
2019 |
Malar flattening
|
disease |
|
Anatomical Abnormality
|
190
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the zygomatic bone
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Chromosome Breakage
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of chromosome stability
|
phenotype |
|
Cell or Molecular Dysfunction
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.040 |
None |
1.000 |
4 |
|
2002 |
2015 |
Primary Pigmented Nodular Adrenal Dysplasia
|
disease |
|
Congenital Abnormality
|
31
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
strong |
|
0 |
|
|
|
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
|
|
|
Hand polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
75
|
1
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
171
|
12
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Bloom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
155
|
132
|
1.000 |
definitive |
0.994 |
159 |
128
|
1994 |
2020 |
Werner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
71
|
0.100 |
None |
1.000 |
20 |
|
1996 |
2019 |
Premature aging syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
136
|
5
|
0.100 |
None |
1.000 |
12 |
|
1999 |
2017 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.100 |
None |
1.000 |
10 |
|
2003 |
2019 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.090 |
None |
1.000 |
9 |
|
2003 |
2019 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.060 |
None |
1.000 |
6 |
|
2016 |
2019 |
Rothmund-Thomson syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
35
|
12
|
0.050 |
None |
1.000 |
5 |
|
2001 |
2012 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2017 |
AIDS related complex
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
100
|
43
|
0.020 |
None |
1.000 |
2 |
1
|
2013 |
2019 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2020 |