Ridged nails
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Pitting of nails
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Severe T-cell immunodeficiency
|
disease |
|
Disease or Syndrome
|
5
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.100 |
None |
|
0 |
|
|
|
T-Lymphocytopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased proportion circulating T-helper cells
|
phenotype |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital alopecia totalis
|
disease |
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
Immunodeficiency associated with other specified major defects
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
8 |
|
1966 |
2011 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.050 |
None |
1.000 |
5 |
|
1999 |
2018 |
Thymoma
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
291
|
20
|
0.040 |
None |
1.000 |
4 |
|
1999 |
2017 |
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 |
Congenital absence of thymus
|
disease |
Immune System Diseases
|
Congenital Abnormality
|
6
|
2
|
0.130 |
None |
1.000 |
3 |
1
|
1999 |
2019 |
Epithelioma
|
disease |
Neoplasms
|
Neoplastic Process
|
326
|
2
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2017 |
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 |
Ductal Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
273
|
11
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
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 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 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 |