Niemann-Pick Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
23
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Storage disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
28
|
1
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2012 |
Abnormality of femur morphology
|
disease |
|
Anatomical Abnormality
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Small Fiber Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
35
|
8
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2017 |
Thrombosis of cerebral veins
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
11
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Knee pain
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
38
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Protein Misfolding Disorders
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
38
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Chronic glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
41
|
7
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Ectopic kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
41
|
3
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Esophageal Achalasia
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
49
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic valve
|
disease |
|
Anatomical Abnormality
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Dysautonomia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
52
|
46
|
0.020 |
None |
1.000 |
2 |
1
|
2015 |
2020 |
Clinically isolated syndrome
|
disease |
|
Disease or Syndrome
|
54
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pain, Burning
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
56
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Telangiectasia of the skin
|
phenotype |
Cardiovascular Diseases
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Pseudoxanthoma Elasticum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
57
|
323
|
0.010 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Candidiasis, Vulvovaginal
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections
|
Disease or Syndrome
|
57
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dissecting aneurysm of the thoracic aorta
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
57
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
2
|
0.100 |
None |
|
0 |
|
|
|
Lymphedema
|
disease |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
61
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Small Vessel Diseases
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
6
|
0.310 |
strong |
1.000 |
2 |
|
2004 |
2008 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Atrioventricular Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
63
|
17
|
0.100 |
None |
|
0 |
|
|
|