Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
3
|
2
|
0.750 |
None |
1.000 |
5 |
|
1977 |
2018 |
Wiedemann-Rautenstrauch syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
3
|
1
|
0.720 |
strong |
1.000 |
2 |
1
|
2016 |
2018 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
10
|
0.200 |
None |
0.875 |
16 |
1
|
2011 |
2019 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
78
|
18
|
0.170 |
None |
0.857 |
7 |
|
2011 |
2018 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
55
|
35
|
0.130 |
None |
0.667 |
3 |
|
2014 |
2018 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
104
|
21
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
420
|
64
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
55
|
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
27
|
19
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.060 |
None |
0.833 |
6 |
|
2011 |
2018 |
Long QT Syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
17
|
25
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2018 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
904
|
157
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
305
|
5
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1679
|
213
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8577
|
1441
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Spastic Ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
18
|
3
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
532
|
215
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
75
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
173
|
28
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cerebellar signs
|
phenotype |
|
Sign or Symptom
|
24
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Varicella zoster
|
disease |
|
Disease or Syndrome
|
71
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
168
|
14
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1480
|
85
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |