PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
5 |
2
|
2009 |
2016 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2009 |
2015 |
Stippled chondral calcification
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Intrahepatic biliary dysgenesis
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
42
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
PEROXISOME BIOGENESIS DISORDER 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.700 |
None |
1.000 |
6 |
2
|
1995 |
2016 |
PEROXISOME BIOGENESIS DISORDER 3B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
34
|
0.300 |
strong |
1.000 |
1 |
|
1995 |
1995 |
Mulibrey Nanism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
13
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Optic nerve dysplasia
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Chondrodysplasia Punctata, Rhizomelic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
1
|
0.110 |
None |
1.000 |
2 |
1
|
2015 |
2017 |
Vertical Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Polar cataract
|
disease |
Eye Diseases
|
Congenital Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the mitochondrion
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.300 |
strong |
1.000 |
1 |
|
1995 |
1995 |
Metaphyseal cupping
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Brushfield spots
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Very long chain fatty acid accumulation
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated levels of phytanic acid
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Adrenoleukodystrophy, Neonatal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
2
|
0.510 |
strong |
1.000 |
1 |
|
1995 |
1995 |
Infantile Refsum Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
59
|
0.500 |
strong |
|
0 |
2
|
|
|
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
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
Abnormality of the helix
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Edema of eyelid
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thoracic scoliosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
23
|
5
|
0.100 |
None |
|
0 |
|
|
|
Peroxisomal Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
1
|
0.020 |
None |
0.500 |
2 |
|
1995 |
1996 |