Classical phenylketonuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
42
|
385
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Glycogen Storage Disease Type VI
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
22
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Phenylketonurias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
83
|
46
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Vitamin B 12 Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
11
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2015 |
Mastitis-metritis-agalactia syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
23
|
3
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2017 |
Disorder of vitamin B12
|
disease |
|
Disease or Syndrome
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2015 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
7 |
1
|
2006 |
2015 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
7 |
1
|
2006 |
2015 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
7 |
1
|
2006 |
2015 |
Homocysteine measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|
Cystathioninemia
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Gamma-cystathionase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|