Bifunctional peroxisomal enzyme deficiency
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
2
|
47
|
0.900 |
None |
1.000 |
34 |
47
|
1989 |
2017 |
Gonadal dysgenesis XX type deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
14
|
11
|
0.630 |
definitive |
1.000 |
10 |
1
|
1989 |
2017 |
PERRAULT SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
10
|
0.600 |
strong |
1.000 |
12 |
10
|
1998 |
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
|
0.330 |
None |
1.000 |
3 |
|
1999 |
2014 |
Peroxisomal Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
1
|
0.320 |
None |
1.000 |
4 |
|
1997 |
2006 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Peroxisomal Dysfunction, Single
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
1997 |
2006 |
Peroxisomal Dysfunction, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
1997 |
2006 |
Peroxisomal Dysfunction, General
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
1997 |
2006 |
Adrenoleukodystrophy, Neonatal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
2
|
0.300 |
None |
1.000 |
2 |
|
1997 |
2006 |
Hyperpipecolic Acidemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
1997 |
2006 |
Salaam Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
75
|
9
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
spasmus nutans
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.300 |
strong |
1.000 |
1 |
|
1999 |
1999 |
Jackknife Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cryptogenic Infantile Spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
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 |
1 |
|
1999 |
1999 |
Symptomatic Infantile Spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Nodding spasm
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
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
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Disorder of fatty acid metabolism
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
|
0.200 |
None |
1.000 |
5 |
|
2000 |
2013 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.110 |
None |
1.000 |
1 |
|
2001 |
2001 |
QT interval feature (observable entity)
|
phenotype |
|
Clinical Attribute
|
75
|
226
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |