pathologic fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
71
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
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 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Deep Vein Thrombosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
230
|
93
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
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 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Central Nervous System Infection
|
group |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
44
|
5
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary Hyperoxaluria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
16
|
11
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
TOXOPLASMOSIS, CHRONIC
|
disease |
Infections
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
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 |
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 |
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Brucella melitensis infection
|
disease |
Infections
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
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 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Deficiency of aromatic-L-amino-acid decarboxylase
|
disease |
|
Disease or Syndrome
|
7
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Amino acidemias
|
group |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Venous Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
378
|
408
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
164
|
139
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |