Cockayne-Touraine Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
3
|
0.300 |
None |
|
0 |
|
|
|
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
1
|
0.300 |
None |
|
0 |
|
|
|
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
4
|
0.300 |
None |
|
0 |
|
|
|
Chronic Airflow Obstruction
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
35
|
|
0.300 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Mitten deformity
|
phenotype |
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal blistering of the skin
|
phenotype |
|
Finding
|
75
|
10
|
0.100 |
None |
|
0 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
72
|
1
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Microstomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
disease |
|
Disease or Syndrome
|
77
|
1
|
0.100 |
None |
|
0 |
|
|
|
Blepharitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
458
|
92
|
0.100 |
None |
|
0 |
|
|
|
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.100 |
None |
|
0 |
|
|
|
Boerhaave syndrome
|
disease |
Digestive System Diseases; Respiratory Tract Diseases; Wounds and Injuries
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Absent toenail
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Madarosis of eyelid
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Fragile skin
|
phenotype |
|
Finding
|
26
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dental caries
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
330
|
126
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Pruritus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
107
|
2
|
0.100 |
None |
|
0 |
|
|
|
Ectropion
|
disease |
Eye Diseases
|
Disease or Syndrome
|
50
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|