Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.600 |
None |
1.000 |
11 |
|
2000 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.450 |
None |
0.500 |
7 |
2
|
2008 |
2019 |
Endometrial Stromal Sarcoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
75
|
1
|
0.400 |
None |
0.950 |
20 |
|
2012 |
2019 |
Clear cell sarcoma of kidney
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
31
|
|
0.390 |
None |
0.889 |
9 |
|
2012 |
2018 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.340 |
None |
1.000 |
5 |
|
2007 |
2018 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.320 |
None |
0.500 |
2 |
1
|
2011 |
2012 |
Chromosome 17p13.3 Duplication Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Distal 17p13.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Left ventricular noncompaction
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
26
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
2
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.150 |
None |
1.000 |
5 |
|
2008 |
2013 |
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.130 |
None |
1.000 |
3 |
|
2008 |
2011 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2013 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.100 |
None |
0.957 |
23 |
|
2017 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.938 |
16 |
|
2006 |
2020 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Wide nose
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|