Parkinsonism-Dystonia, Infantile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Citrullinemia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
85
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
GIANT AXONAL NEUROPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alpha-Sarcoglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
58
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Glycogen storage disease type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
45
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mucopolysaccharidosis III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ornithine carbamoyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
142
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
4
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
48
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Mastitis-metritis-agalactia syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
23
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mucopolysaccharidosis Type IIIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
69
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Primary hyperoxaluria, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Globoid cell leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
111
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Allergy to peanuts
|
phenotype |
Immune System Diseases
|
Disease or Syndrome
|
36
|
5
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
X-Linked Combined Immunodeficiency Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
38
|
42
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
39
|
27
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Choroideremia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
41
|
15
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Granulomatous Disease, Chronic, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
75
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2015 |
Stargardt's disease
|
phenotype |
|
Disease or Syndrome
|
45
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mucopolysaccharidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
48
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Angioedemas, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
54
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
125
|
0.090 |
None |
1.000 |
9 |
|
2002 |
2017 |
Refractive Errors
|
group |
Eye Diseases
|
Disease or Syndrome
|
71
|
75
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |