Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Parvovirus B19 (disease)
|
disease |
|
Disease or Syndrome
|
59
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.070 |
None |
1.000 |
7 |
|
2007 |
2019 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Retinitis Pigmentosa 18
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Autoimmune Lymphoproliferative Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
22
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neurofibromatosis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
311
|
827
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Dysautonomia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
52
|
46
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2011 |
Encephalitis, St. Louis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
272
|
34
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Poliomyelitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Herpes Simplex Infections
|
group |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
645
|
11
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
171
|
8
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Adult Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
93
|
3
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Childhood Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |