Immunodeficiency associated with other specified major defects
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
8 |
|
1966 |
2011 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Progression of non-small cell lung cancer
|
disease |
|
Neoplastic Process
|
151
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ridged nails
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital alopecia totalis
|
disease |
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Severe T-cell immunodeficiency
|
disease |
|
Disease or Syndrome
|
5
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
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 |
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
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 |
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 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
61
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Photoreceptor degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
136
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Eosinophilia, Tropical
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
|
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 |
Congenital absence of thymus
|
disease |
Immune System Diseases
|
Congenital Abnormality
|
6
|
2
|
0.130 |
None |
1.000 |
3 |
1
|
1999 |
2019 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.100 |
None |
|
0 |
|
|
|