Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Megaloblastic Anemia 1
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
68
|
0.770 |
None |
1.000 |
13 |
25
|
2003 |
2018 |
Adrenoleukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
294
|
116
|
0.080 |
None |
1.000 |
8 |
|
1981 |
2019 |
Adrenomyeloneuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
38
|
2
|
0.030 |
None |
1.000 |
3 |
|
1990 |
2015 |
Anemia, Megaloblastic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
2
|
0.120 |
None |
1.000 |
2 |
1
|
2003 |
2005 |
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2011 |
Spinal Cord Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
84
|
3
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2015 |
Megaloblastic anemia due to inborn errors of metabolism
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2015 |
Bone Marrow Diseases
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
84
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Color vision defect
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
94
|
4
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Kidney Failure, Acute
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
826
|
32
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Tracheal Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
155
|
1
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Color blindness
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
4
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Somatotropin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
154
|
14
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Disorder of macula of retina
|
group |
Eye Diseases
|
Disease or Syndrome
|
49
|
24
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intrinsic Factor Deficiency
|
disease |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
18
|
6
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Acute Kidney Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
104
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
9
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Paresthesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Vitamin B 12 Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Hypesthesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.100 |
None |
|
0 |
|
|
|