MUCOLIPIDOSIS II ALPHA/BETA (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
137
|
0.930 |
strong |
1.000 |
45 |
136
|
2004 |
2019 |
Pseudo-Hurler Polydystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
101
|
0.730 |
strong |
1.000 |
40 |
101
|
2004 |
2019 |
Type II Mucolipidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
43
|
1
|
0.900 |
strong |
1.000 |
23 |
|
2004 |
2020 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
2
|
2005 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2016 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.060 |
None |
1.000 |
6 |
|
2013 |
2020 |
Stuttering
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
34
|
8
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2018 |
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
1.000 |
3 |
1
|
2006 |
2014 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
3 |
1
|
2006 |
2014 |
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
1.000 |
3 |
1
|
2006 |
2014 |
Premature adrenarche
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
1.000 |
3 |
1
|
2006 |
2014 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
1.000 |
3 |
1
|
2006 |
2014 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.120 |
None |
1.000 |
2 |
|
2019 |
2019 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Developmental reading disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
33
|
32
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Arrhythmogenic Right Ventricular Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
82
|
136
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hemorrhagic Fever, Ebola
|
disease |
Infections
|
Disease or Syndrome
|
164
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2346
|
222
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |