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
|
4
|
20
|
0.750 |
None |
1.000 |
15 |
17
|
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
|
23
|
0.720 |
strong |
1.000 |
4 |
23
|
2016 |
2018 |
Leukodystrophy, Dysmyelinating, with Oligodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.200 |
None |
0.875 |
16 |
1
|
2011 |
2019 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.170 |
None |
0.857 |
7 |
|
2011 |
2018 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.130 |
None |
0.667 |
3 |
|
2014 |
2018 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
7
|
2017 |
2017 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Absent earlobe
|
phenotype |
|
Congenital Abnormality
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Reduced subcutaneous adipose tissue
|
phenotype |
|
Finding
|
21
|
1
|
0.100 |
None |
|
0 |
|
|
|
Prominent scalp veins
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sparse scalp hair
|
phenotype |
|
Finding
|
85
|
7
|
0.100 |
None |
|
0 |
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Progeroid facial appearance
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Increased subcutaneous truncal adipose tissue
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Vertical supranuclear gaze palsy
|
disease |
|
Disease or Syndrome
|
18
|
2
|
0.100 |
None |
|
0 |
|
|
|