Synthetic defect of bile acids
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of the dentate nucleus
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of central somatosensory evoked potentials
|
phenotype |
|
Pathologic Function
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypercholesterolemia result
|
phenotype |
|
Finding
|
3
|
415
|
0.100 |
None |
|
0 |
2
|
|
|
Tuberous xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Vitamin D-dependent rickets, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
21
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Reflex Epilepsy, Photosensitive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
moderate |
1.000 |
1 |
|
1991 |
1991 |
EMG: axonal abnormality
|
phenotype |
|
Pathologic Function
|
6
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital Bilateral Cataracts
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
EEG with generalized slow activity
|
phenotype |
|
Finding
|
8
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cataract, Pulverulent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
4
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Pseudobulbar Palsy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Xanthoma tendinosum
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
22
|
0.100 |
None |
|
0 |
1
|
|
|
obsolete Combined hyperlipidemia
|
disease |
|
Disease or Syndrome
|
17
|
4
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Cholestasis in newborn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Eyelid Xanthoma
|
disease |
Nutritional and Metabolic Diseases; Eye Diseases
|
Disease or Syndrome
|
19
|
32
|
0.100 |
None |
|
0 |
|
|
|
Dementia of frontal lobe type
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Storage disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
28
|
1
|
0.030 |
None |
1.000 |
3 |
|
1992 |
1994 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.120 |
None |
1.000 |
2 |
|
1994 |
2010 |
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Paraparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
31
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
31
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Xanthomatosis, Cerebrotendinous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
71
|
0.800 |
None |
0.985 |
133 |
70
|
1975 |
2019 |
Lipoidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
|
0.040 |
None |
1.000 |
4 |
|
1991 |
2017 |