Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Myelocerebellar Disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
4
|
0.720 |
None |
1.000 |
4 |
4
|
2016 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Hematological Disease
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
255
|
16
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.120 |
None |
1.000 |
2 |
1
|
2016 |
2019 |
MIRAGE SYNDROME
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
8
|
4
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cowpox
|
disease |
Infections
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Mucocutaneous Lymph Node Syndrome
|
disease |
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
370
|
195
|
0.010 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Monosomy 7 of Bone Marrow
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diffuse alveolar hemorrhage
|
disease |
|
Disease or Syndrome
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|