Infantile GM 2 gangliosidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
N-Acetylneuraminic acid storage disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Adult Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Infantile Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Juvenile Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Ring chromosome 3 syndrome
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Pleomorphic hyalinizing angiectatic tumor
|
disease |
|
Neoplastic Process
|
3
|
|
0.030 |
None |
0.667 |
3 |
|
2016 |
2019 |
Gm2-Gangliosidosis, Variant B1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
1
|
0.070 |
None |
1.000 |
7 |
|
1988 |
2003 |
Hemosiderotic Fibrolipomatous Tumor
|
disease |
|
Neoplastic Process
|
4
|
|
0.060 |
None |
1.000 |
6 |
|
2011 |
2017 |
Hexosaminidase alpha-Subunit Deficiency (Variant B)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
1991 |
2011 |
Pleomorphic hyalinizing angiectatic tumor of soft tissue
|
disease |
|
Neoplastic Process
|
5
|
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2019 |
Tay-Sachs Disease, AB Variant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Gangliosidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
2
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2001 |
beta-Galactosidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Myxoinflammatory fibroblastic sarcoma
|
disease |
|
Neoplastic Process
|
8
|
|
0.060 |
None |
1.000 |
6 |
|
2011 |
2017 |
Congenital disorder of glycosylation type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
80
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Cutaneous anaphylaxis
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Drug-induced Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Acute chest pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Chronic kidney disease stage 2
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Sphingolipidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Gangliosidoses, GM2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
5
|
0.100 |
None |
1.000 |
25 |
|
1975 |
2016 |
Mucolipidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
10
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
48
|
0.100 |
None |
1.000 |
31 |
1
|
1975 |
2020 |