Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Clubbed Fingers
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
88
|
1
|
0.100 |
None |
|
0 |
|
|
|
Tracheoesophageal Fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases
|
Anatomical Abnormality
|
80
|
|
0.100 |
None |
|
0 |
|
|
|
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyebrow morphology
|
group |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rough bone trabeculation
|
disease |
|
Anatomical Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Excessive wrinkled skin
|
phenotype |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pharynx
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
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 |
|
|
|
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
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 |
|
|
|
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.670 |
strong |
1.000 |
8 |
2
|
2015 |
2019 |
Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
803
|
63
|
0.550 |
None |
0.833 |
6 |
|
2015 |
2019 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.150 |
None |
1.000 |
5 |
|
2015 |
2019 |
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2015 |
2015 |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.700 |
None |
1.000 |
4 |
9
|
2015 |
2019 |
HOYERAAL-HREIDARSSON SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
16
|
1
|
0.320 |
None |
1.000 |
3 |
|
2015 |
2019 |
Hamman-Rich syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
55
|
8
|
0.310 |
None |
1.000 |
2 |
|
2015 |
2016 |
X-Linked Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
17
|
33
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Familial Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
23
|
|
0.310 |
None |
1.000 |
2 |
|
2015 |
2015 |
Extrinsic allergic alveolitis
|
group |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
65
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |