Skin keratosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital absence of thymus
|
disease |
Immune System Diseases
|
Congenital Abnormality
|
6
|
2
|
0.130 |
None |
1.000 |
3 |
1
|
1999 |
2019 |
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.010 |
None |
< 0.001 |
1 |
|
2008 |
2008 |
Congenital hypertrichosis lanuginosa
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
2008 |
2008 |
Congenital diverticulum of pharynx
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
10
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Congenital hypertrichosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
2008 |
2008 |
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital alopecia totalis
|
disease |
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.910 |
None |
1.000 |
13 |
3
|
1966 |
2014 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.230 |
None |
1.000 |
8 |
|
1966 |
2020 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.080 |
None |
1.000 |
8 |
|
2004 |
2019 |
Immunodeficiency associated with other specified major defects
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
8 |
|
1966 |
2011 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.140 |
None |
1.000 |
4 |
|
1999 |
2018 |
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.130 |
None |
1.000 |
3 |
|
2009 |
2019 |
Eosinophilia, Tropical
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lymphopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
239
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thymus Hyperplasia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
30
|
1
|
0.200 |
None |
1.000 |
1 |
|
2016 |
2016 |