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 |
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 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.020 |
None |
1.000 |
2 |
2
|
2015 |
2019 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
206
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cholangitis, Sclerosing
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
188
|
276
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Sarcoidosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
413
|
787
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Lysosomal beta-mannosidase deficiency
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Angiokeratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2018 |
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
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 |
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 |
Allergic Reaction
|
phenotype |
Immune System Diseases
|
Pathologic Function
|
197
|
1019
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Aggressive behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
176
|
22
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
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 |
|
|
|