6-pyruvoyl-tetrahydropterin synthase deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
5
38
0.900
definitive
1.000
41
37
1987
2017
Hyperphenylalaninaemia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
30
38
0.160
None
1.000
6
6
1992
2019
Hyperphenylalaninemia, Non-Phenylketonuric
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
9
2
0.050
None
1.000
5
2
1996
2015
Phenylketonurias
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
83
46
0.030
None
1.000
3
1992
2014
Deep Vein Thrombosis
disease
Cardiovascular Diseases
Disease or Syndrome
230
93
0.020
None
1.000
2
2017
2018
Metabolic Diseases
group
Nutritional and Metabolic Diseases
Disease or Syndrome
945
50
0.020
None
1.000
2
2016
2019
Classical phenylketonuria
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
42
385
0.020
None
1.000
2
1992
2002
Dystonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
453
97
0.400
None
1.000
2
2016
2016
Venous Thromboembolism
phenotype
Cardiovascular Diseases
Disease or Syndrome
378
408
0.010
None
1.000
1
2018
2018
Brucella melitensis infection
disease
Infections
Disease or Syndrome
17
0.010
None
1.000
1
2010
2010
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.010
None
1.000
1
2017
2017
Post-Traumatic Stress Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
418
117
0.010
None
1.000
1
2018
2018
ALZHEIMER DISEASE, FAMILIAL, 1
disease
Nervous System Diseases; Mental Disorders
Disease or Syndrome
4
0.010
None
1.000
1
2002
2002
Amino acidemias
group
Disease or Syndrome
1
0.010
None
1.000
1
1992
1992
Deficiency of aromatic-L-amino-acid decarboxylase
disease
Disease or Syndrome
7
16
0.010
None
1.000
1
2017
2017
Familial Dystonia
disease
Nervous System Diseases
Disease or Syndrome
15
0.010
None
1.000
1
1997
1997
Aromatic amino acid decarboxylase deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
5
7
0.010
None
1.000
1
2017
2017
Mixed anxiety and depressive disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
146
13
0.010
None
1.000
1
2020
2020
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.010
None
1.000
1
2019
2019
Familial Alzheimer Disease (FAD)
disease
Nervous System Diseases; Mental Disorders
Disease or Syndrome
260
95
0.010
None
1.000
1
2002
2002
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
Disease or Syndrome
10
9
0.010
None
1.000
1
2017
2017
Phenylketonuria II
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
6
16
0.010
None
1.000
1
2017
2017
Transient hyperphenylalaninemia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
6
1
0.010
None
1.000
1
1
1997
1997
TOXOPLASMOSIS, CHRONIC
disease
Infections
Disease or Syndrome
6
0.010
None
1.000
1
2015
2015
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.010
None
1.000
1
2020
2020