ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
10
|
0.800 |
strong |
0.857 |
14 |
2
|
2005 |
2019 |
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
25
|
7
|
0.700 |
strong |
0.857 |
14 |
3
|
2002 |
2019 |
Christ-Siemens-Touraine syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
78
|
0.700 |
strong |
1.000 |
12 |
|
2002 |
2016 |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
4
|
|
0.510 |
None |
1.000 |
1 |
|
2011 |
2011 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.420 |
None |
1.000 |
2 |
|
2011 |
2013 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.420 |
None |
1.000 |
2 |
|
2011 |
2013 |
Ectodermal Dysplasia 3, Anhidrotic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
35
|
0.200 |
None |
0.818 |
11 |
3
|
2005 |
2019 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.200 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
16
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
0.818 |
11 |
|
2005 |
2019 |
response to simvastatin
|
phenotype |
|
Cell Function
|
21
|
37
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Periorbital wrinkles
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slow-growing hair
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Periorbital hyperpigmentation
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|