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 |
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 |
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 |
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 |
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 |
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 |
PEROXISOME BIOGENESIS DISORDER 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
strong |
|
0 |
|
|
|
Infantile Refsum Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
59
|
0.300 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2019 |
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 |
Progressive gait ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Rapidly progressive
|
phenotype |
|
Finding
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Generalized neonatal hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the outer ear
|
disease |
|
Anatomical Abnormality
|
95
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Impaired smooth pursuit
|
phenotype |
|
Finding
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Flat occiput
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|