IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
3 |
3
|
2009 |
2013 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Adult Soft Tissue Sarcoma
|
disease |
|
Neoplastic Process
|
162
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Childhood Soft Tissue Sarcoma
|
disease |
|
Neoplastic Process
|
166
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Non-Metastatic Childhood Soft Tissue Sarcoma
|
disease |
|
Neoplastic Process
|
160
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Recurrent lower respiratory tract infection
|
phenotype |
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Adenomatous Polyposis Coli
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
609
|
237
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Familial multiple trichoepitheliomata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
317
|
32
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.700 |
strong |
1.000 |
12 |
|
1995 |
2018 |
Severe combined immunodeficiency with low T- and B-cell numbers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
3 |
|
1983 |
1995 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
4
|
32
|
0.200 |
None |
1.000 |
3 |
|
1983 |
1995 |
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
86
|
11
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Severe combined immunodeficiency with sensitivity to ionizing radiation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
3
|
10
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.040 |
None |
1.000 |
4 |
|
2004 |
2019 |
Massive Hepatic Necrosis
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Non-alcoholic Fatty Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1058
|
222
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |