Peroxisomal ACYL-COA oxidase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
10
|
0.920 |
strong |
1.000 |
10 |
10
|
1994 |
2016 |
Diffuse hepatic steatosis
|
phenotype |
Digestive System Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
No social interaction
|
phenotype |
Mental Disorders
|
Finding
|
5
|
3
|
0.100 |
None |
|
0 |
|
|
|
Acquired pectus carinatum
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of nervous system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Adult-onset citrullinemia type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
15
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Decreased light- and dark-adapted electroretinogram amplitude
|
phenotype |
|
Finding
|
15
|
1
|
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 |
1.000 |
2 |
|
2018 |
2019 |
Inversion of nipple (disorder)
|
disease |
Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
27
|
7
|
0.100 |
None |
|
0 |
|
|
|
Intellectual disability, progressive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Central nervous system demyelination
|
disease |
|
Disease or Syndrome
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hand polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
75
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lipid Metabolism Disorders
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
95
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Alloxan Diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
112
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Streptozotocin Diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
112
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |