Acantholysis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Pathologic Function
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Acanthosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Psoriasiform eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Hypergranulosis
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Hypernatremia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
59
|
3
|
0.100 |
None |
|
0 |
|
|
|
Orthokeratosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Diffuse palmoplantar hyperkeratosis
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Streaks of hyperkeratosis along each finger onto the palm
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Hereditary Diffuse Gastric Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
312
|
119
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Impetigo
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Esophageal carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1287
|
272
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Secondary malignant neoplasm of lymph node
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
2825
|
188
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Diffuse palmoplantar keratoderma with painful fissures
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Focal palmoplantar keratoderma with joint keratoses
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Keratoderma
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
24
|
2
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2007 |