Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Blepharophimosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
106
|
15
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2016 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.010 |
None |
< 0.001 |
1 |
|
2000 |
2000 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Acromicria
|
disease |
|
Congenital Abnormality
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Penile hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
127
|
83
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Porphyria Cutanea Tarda
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
30
|
39
|
0.900 |
None |
0.988 |
85 |
26
|
1976 |
2019 |
Familial porphyria cutanea tarda
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
6
|
0.200 |
None |
0.912 |
34 |
4
|
1980 |
2019 |
Hepatoerythropoietic Porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
7
|
0.500 |
None |
0.929 |
28 |
7
|
1981 |
2019 |
Disorders of Porphyrin Metabolism
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
7
|
0.100 |
None |
1.000 |
17 |
1
|
1986 |
2019 |
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.100 |
None |
0.933 |
15 |
|
1992 |
2018 |
Septicemia
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1285
|
141
|
0.100 |
None |
0.857 |
14 |
|
2013 |
2019 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.100 |
None |
0.857 |
14 |
|
2013 |
2019 |
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.100 |
None |
0.917 |
12 |
|
1995 |
2019 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.100 |
None |
0.900 |
10 |
|
1985 |
2012 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.050 |
None |
1.000 |
5 |
|
2009 |
2019 |
Iron Overload
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
241
|
53
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2019 |
Sporadic porphyria cutanea tarda
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
3
|
0.050 |
None |
0.800 |
5 |
|
1985 |
2002 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.040 |
None |
0.750 |
4 |
|
1999 |
2011 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.030 |
None |
1.000 |
3 |
|
1978 |
2019 |
Acute intermittent porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
103
|
68
|
0.030 |
None |
1.000 |
3 |
|
1989 |
2002 |
Bacteremia
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
233
|
7
|
0.020 |
None |
0.500 |
2 |
|
2017 |
2017 |