beta-Mannosidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
13
|
1.000 |
None |
1.000 |
18 |
13
|
1988 |
2019 |
Lysosomal beta-mannosidase deficiency
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.100 |
None |
1.000 |
3 |
34
|
2011 |
2015 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2018 |
Sarcoidosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
413
|
787
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Lymphocyte Count measurement
|
phenotype |
|
Laboratory Procedure
|
338
|
456
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Creatinine measurement, serum (procedure)
|
phenotype |
|
Laboratory Procedure
|
124
|
243
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Allergic Reaction
|
phenotype |
Immune System Diseases
|
Pathologic Function
|
197
|
1019
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cholangitis, Sclerosing
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
188
|
276
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Tortuosity of conjunctival vessels
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the abdominal wall musculature
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Angiokeratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Increased urinary disaccharide excretion
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|