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
|
0.600 |
None |
1.000 |
36 |
96
|
1997 |
2017 |
Infantile Refsum Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
59
|
0.720 |
None |
1.000 |
28 |
57
|
1997 |
2017 |
HEIMLER SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
12
|
0.600 |
strong |
1.000 |
18 |
12
|
1997 |
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
|
0.800 |
strong |
1.000 |
16 |
|
1997 |
2020 |
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
|
0.370 |
None |
1.000 |
10 |
|
1998 |
2019 |
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 |
3 |
|
1998 |
2015 |
Deafness enamel hypoplasia nail defects
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
|
0.530 |
None |
1.000 |
3 |
|
2015 |
2018 |
Zellweger Spectrum Disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
1
|
0.030 |
None |
1.000 |
3 |
1
|
2014 |
2019 |
Peroxisome Biogenesis Disorder, Complementation Group 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1999 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
61
|
24
|
0.400 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Leukomalacia, Periventricular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
10
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adrenoleukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
294
|
116
|
0.300 |
moderate |
1.000 |
1 |
|
2005 |
2005 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hereditary macular dystrophy
|
disease |
|
Congenital Abnormality
|
39
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Macular dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
52
|
59
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Recurrent respiratory papillomatosis
|
disease |
Infections; Respiratory Tract Diseases
|
Neoplastic Process
|
37
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Pediatric Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
191
|
67
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pigmentary retinal dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Acanthosis Nigricans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
64
|
11
|
0.100 |
None |
|
0 |
|
|
|