Skin Diseases, Genetic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
57
|
6
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
39
|
6
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sturge-Weber Syndrome
|
disease |
Neoplasms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Neurocutaneous Syndromes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
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 |
|
2019 |
2019 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dysgenesis of corpus callosum
|
disease |
|
Congenital Abnormality
|
25
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bacterial Infections
|
group |
Infections
|
Disease or Syndrome
|
616
|
17
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
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 |
|
2001 |
2001 |
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2011 |
Anomalies of cerebrum
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2019 |
Keratoderma
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
24
|
2
|
0.050 |
None |
1.000 |
5 |
|
2011 |
2019 |
Cerebral dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2019 |
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|