Sialidase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
23
|
0.720 |
strong |
1.000 |
12 |
23
|
1996 |
2014 |
Type I Mucolipidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
4
|
0.700 |
strong |
1.000 |
28 |
4
|
1984 |
2020 |
Mucolipidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
10
|
0.600 |
strong |
1.000 |
26 |
1
|
1984 |
2018 |
Neuraminidase 1 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.540 |
strong |
1.000 |
6 |
2
|
2004 |
2019 |
Lipomucopolysaccharidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.410 |
None |
1.000 |
2 |
4
|
2003 |
2017 |
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
14
|
0.400 |
strong |
1.000 |
1 |
|
2001 |
2001 |
Sialidosis, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.310 |
None |
1.000 |
1 |
2
|
2004 |
2004 |
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hydrops fetalis (type II, congenital)
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2001 |
2001 |
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.110 |
None |
1.000 |
1 |
2
|
2005 |
2005 |
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 |
|
2015 |
2015 |
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
0.960 |
50 |
|
1988 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
0.958 |
48 |
|
1988 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.815 |
27 |
|
1988 |
2017 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.929 |
14 |
|
1991 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Vitiligo
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
395
|
249
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |