Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Epiretinal Membrane
|
disease |
Eye Diseases
|
Acquired Abnormality
|
102
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Middle Cerebral Artery Occlusion
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Acquired Abnormality
|
626
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
12 |
2
|
2008 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
11 |
1
|
2008 |
2017 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Septicemia
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1285
|
141
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2017 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2017 |
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
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2019 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
340
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebral Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
687
|
123
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Brain Ischemia
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
358
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 |
|
2019 |
2019 |