Cardiomyopathy dilated with Woolly hair and keratoderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
54
|
0.960 |
strong |
0.971 |
34 |
54
|
1999 |
2019 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
69
|
0.900 |
strong |
1.000 |
29 |
69
|
1999 |
2019 |
Skin Fragility-Woolly Hair Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
7
|
0.720 |
strong |
1.000 |
7 |
7
|
2002 |
2019 |
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
strong |
1.000 |
6 |
8
|
2006 |
2019 |
KERATOSIS PALMOPLANTARIS STRIATA II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
4
|
0.600 |
strong |
1.000 |
5 |
4
|
2011 |
2019 |
Progressive cardiomyopathic lentiginosis syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mucocutaneous herpes simplex
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Palmoplantar keratosis with erythema and scale
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Tapered distal phalanges of finger
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Increased troponin I level in blood
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Epidermolysis bullosa, lethal acantholytic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
5
|
0.740 |
strong |
1.000 |
9 |
5
|
2005 |
2019 |
Multiple allergies
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ectodermal dysplasia/ skin fragility syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
3
|
0.310 |
limited |
1.000 |
1 |
|
2009 |
2009 |
alopecia congenita
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital alopecia X-linked
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
|
disease |
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Widely spaced toes
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyocyte hypertrophy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Naxos disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
7
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2006 |
Severe dermatitis, multiple allergies, metabolic wasting syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
2
|
0.320 |
None |
1.000 |
3 |
|
2015 |
2019 |
Mononeuritis Multiplex
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Other cardiomyopathies
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
|
0.200 |
None |
|
0 |
|
|
|
Striate palmoplantar keratoderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
5
|
1
|
0.350 |
None |
1.000 |
6 |
|
1999 |
2009 |
Diffuse infiltrative lymphocytosis syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
71
|
0.100 |
None |
|
0 |
2
|
|
|