Akinetic rigid syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
HUNTINGTON DISEASE-LIKE 3 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Familial hyperalphalipoproteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Caudate atrophy
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Functional motor deficit
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Headache associated with sexual activity
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Primitive reflex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Primitive reflexes (palmomental, snout, glabellar)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Avitaminosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Vitamin Deficiency
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neuroferritinopathy
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
HUNTINGTON DISEASE-LIKE 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
18
|
1
|
0.800 |
limited |
1.000 |
14 |
1
|
2001 |
2020 |
Hypoalphalipoproteinemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
6
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Eyelid Xanthoma
|
disease |
Nutritional and Metabolic Diseases; Eye Diseases
|
Disease or Syndrome
|
19
|
32
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Severe dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
19
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hypobetalipoproteinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypoalphalipoproteinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
7
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
SPINOCEREBELLAR ATAXIA 17
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Chorea Acanthocytosis Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
29
|
5
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2018 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Personality Change
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
43
|
6
|
0.100 |
None |
|
0 |
|
|
|
Serum gamma-glutamyl transferase measurement
|
phenotype |
|
Laboratory Procedure
|
54
|
108
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Obesity, Visceral
|
phenotype |
Nutritional and Metabolic Diseases
|
Sign or Symptom
|
55
|
3
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Delusions
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
62
|
15
|
0.100 |
None |
|
0 |
|
|
|
Abetalipoproteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
65
|
19
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |