Christ-Siemens-Touraine syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
78
|
0.800 |
None |
0.990 |
98 |
78
|
1992 |
2019 |
Tooth Agenesis, Selective, X-Linked, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
9
|
0.700 |
None |
1.000 |
7 |
9
|
2006 |
2016 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.500 |
None |
0.857 |
21 |
4
|
2006 |
2019 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.500 |
None |
0.900 |
10 |
|
2008 |
2019 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Skin peeling/scaling (newborn)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
limited |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
|
|
|
Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
16
|
0.200 |
None |
0.952 |
21 |
2
|
2001 |
2019 |
Anhydrotic Ectodermal Dysplasias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
29
|
2
|
0.160 |
None |
1.000 |
6 |
1
|
1997 |
2016 |
Developmental absence of tooth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
41
|
15
|
0.150 |
None |
0.400 |
5 |
|
2008 |
2019 |
Congenital hypotrichia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
19
|
4
|
0.120 |
None |
1.000 |
2 |
1
|
2009 |
2019 |
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1021
|
66
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2019 |
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.120 |
None |
1.000 |
2 |
|
2009 |
2019 |
Hypohidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
1
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anhidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
2
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Taurodontism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
40
|
10
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
25
|
7
|
0.100 |
None |
0.909 |
22 |
2
|
2005 |
2019 |
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
|
0.100 |
None |
0.909 |
22 |
2
|
2005 |
2019 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
10
|
0.100 |
None |
0.944 |
18 |
2
|
2005 |
2019 |
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
0.944 |
18 |
2
|
2005 |
2019 |
Soft skin
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Periorbital wrinkles
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Periorbital hyperpigmentation
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Intolerant of heat
|
phenotype |
|
Pathologic Function
|
19
|
7
|
0.100 |
None |
|
0 |
|
|
|