Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Skin callus
|
disease |
Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
154
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormal dense granule content
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal alpha granule content
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.100 |
None |
0.964 |
28 |
|
1990 |
2018 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.200 |
None |
1.000 |
17 |
|
1993 |
2019 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2017 |
underdevelopment
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
22
|
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spina Bifida Cystica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
21
|
5
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital defects
|
group |
|
Congenital Abnormality
|
126
|
6
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Congenital amegakaryocytic thrombocytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
7
|
25
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Blood Platelet Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
5
|
0.100 |
None |
1.000 |
33 |
|
2001 |
2019 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.100 |
None |
0.970 |
33 |
|
1997 |
2019 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.500 |
strong |
0.968 |
31 |
5
|
1999 |
2019 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
20
|
0.730 |
definitive |
1.000 |
31 |
20
|
1998 |
2019 |