Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
41
|
38
|
0.670 |
strong |
1.000 |
10 |
2
|
1998 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2019 |
Azoospermia, Nonobstructive
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
91
|
22
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Peroxisomal Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Oligoasthenozoospermia
|
disease |
|
Disease or Syndrome
|
25
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Asthenozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
164
|
17
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
23
|
0.600 |
None |
1.000 |
15 |
23
|
1995 |
2017 |
Zellweger Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.520 |
strong |
1.000 |
6 |
|
1998 |
2017 |
Adrenoleukodystrophy, Neonatal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
2
|
0.520 |
strong |
1.000 |
2 |
|
1998 |
2017 |
PEROXISOME BIOGENESIS DISORDER 6B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
26
|
0.700 |
None |
1.000 |
14 |
26
|
1995 |
2016 |
Zellweger Spectrum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
1
|
0.310 |
None |
1.000 |
5 |
|
1998 |
2016 |
Zellweger-Like Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
4 |
|
1998 |
2015 |
Non-obstructive azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
168
|
88
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2015 |
Peroxisome Biogenesis Disorder, Complementation Group 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
4
|
0.110 |
None |
1.000 |
9 |
4
|
1998 |
2011 |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
99
|
0.310 |
strong |
1.000 |
1 |
|
2000 |
2000 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the tongue
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|