ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
|
disease |
|
Congenital Abnormality
|
1
|
4
|
0.600 |
strong |
1.000 |
2 |
4
|
2016 |
2017 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
16
|
0.310 |
None |
1.000 |
3 |
|
2016 |
2018 |
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.120 |
None |
1.000 |
2 |
3
|
2016 |
2020 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Glaucoma, Open-Angle
|
disease |
Eye Diseases
|
Disease or Syndrome
|
130
|
236
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
176
|
19
|
0.100 |
None |
|
0 |
|
|
|
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the helix
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hypergranulosis
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the eyebrow
|
phenotype |
|
Finding
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Lack of skin elasticity
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis, CTCAE
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.100 |
None |
|
0 |
|
|
|
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
39
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ectropion
|
disease |
Eye Diseases
|
Disease or Syndrome
|
50
|
3
|
0.100 |
None |
|
0 |
|
|
|