Mucopolysaccharidosis I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
31
|
0.900 |
strong |
1.000 |
143 |
29
|
1992 |
2020 |
Pfaundler-Hurler Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
90
|
0.800 |
None |
0.992 |
130 |
85
|
1973 |
2020 |
Hurler-Scheie Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
20
|
0.770 |
strong |
1.000 |
26 |
20
|
1992 |
2020 |
Mucopolysaccharidosis V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
16
|
0.760 |
strong |
1.000 |
29 |
16
|
1992 |
2020 |
alpha-L-Iduronidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.330 |
None |
1.000 |
8 |
|
2001 |
2014 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.200 |
None |
1.000 |
5 |
|
2003 |
2007 |
Gastric ulcer
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
136
|
7
|
0.200 |
None |
1.000 |
1 |
|
1986 |
1986 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.200 |
None |
1.000 |
1 |
|
1983 |
1983 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
136
|
10
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.100 |
None |
1.000 |
32 |
|
1995 |
2019 |
Mucopolysaccharidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
48
|
7
|
0.100 |
None |
1.000 |
28 |
|
1976 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.917 |
12 |
|
1993 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.909 |
11 |
|
2002 |
2019 |
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
2 |
2
|
2012 |
2018 |
Bone Mineral Density Test
|
phenotype |
|
Diagnostic Procedure
|
54
|
314
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
4
|
2018 |
2018 |
Progressive neurologic deterioration
|
phenotype |
Mental Disorders
|
Finding
|
33
|
5
|
0.100 |
None |
|
0 |
|
|
|
Recurrent ear infections
|
group |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Diaphyseal thickening
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Spondylolisthesis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|