Congenital accessory skin tag
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Keratoderma, Palmoplantar, Norrbotten Recessive Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Other specified congenital malformations of skin
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Inherited keratosis palmaris et plantaris
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Keratosis follicularis [Darier-White]
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital symmetrical palmoplantar keratosis
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis with erythema
|
disease |
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Low anterior resection syndrome
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal palmar creases
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
3
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Viral uveitis
|
disease |
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Subungual hyperkeratosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Erythrokeratoderma
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
10
|
1
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2011 |
Keratoderma, Palmoplantar, Diffuse
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
1
|
0.420 |
strong |
1.000 |
4 |
|
2003 |
2015 |
Koilonychia
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Onychogryposis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Meleda Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
18
|
15
|
1.000 |
strong |
0.973 |
37 |
11
|
2001 |
2019 |
Pachyonychia Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
18
|
7
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
23
|
240
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Excessive tearing
|
disease |
Eye Diseases
|
Disease or Syndrome
|
26
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mouth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Fragile nails
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
27
|
1
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Familial benign pemphigus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
12
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
39
|
6
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |