Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2019 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2000 |
Bernard-Soulier Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
46
|
23
|
0.110 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Shprintzen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
46
|
3
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Degenerative Diseases, Central Nervous System
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Degenerative Diseases, Spinal Cord
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
40
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
61
|
21
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
67
|
37
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Bernard-Soulier Syndrome, Type B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
34
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Increased mean platelet volume
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2014 |
Leukemogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
996
|
25
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2019 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
< 0.001 |
1 |
|
2002 |
2002 |
Acute lymphocytic leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1293
|
222
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |