Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Broad hallux phalanx
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Multiple Sulfatase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
1.000 |
strong |
1.000 |
27 |
26
|
2003 |
2019 |
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
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2016 |
Sulfatidosis, Juvenile, Austin Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.800 |
strong |
1.000 |
3 |
|
2003 |
2007 |
Leukodystrophy, Metachromatic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
27
|
158
|
0.020 |
None |
0.500 |
2 |
|
2007 |
2018 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.020 |
None |
1.000 |
2 |
2
|
2017 |
2019 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2014 |
Mucopolysaccharidosis, MPS-IV-A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
90
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2014 |
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 |
|
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 |
< 0.001 |
1 |
|
2018 |
2018 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Narcolepsy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
308
|
454
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Ichthyosis, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
199
|
10
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Central nervous system lesion
|
disease |
|
Disease or Syndrome
|
34
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Placental Steroid Sulfatase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
15
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|