Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
48
|
1.000 |
strong |
0.987 |
76 |
47
|
1989 |
2020 |
Infantile Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.630 |
None |
1.000 |
4 |
1
|
1992 |
2010 |
Juvenile Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.530 |
None |
1.000 |
4 |
|
1992 |
2010 |
Adult Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.520 |
None |
1.000 |
3 |
2
|
1998 |
2010 |
Sandhoff Disease, Juvenile Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Sandhoff Disease, Adult Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Acute kidney injury
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Injury or Poisoning
|
185
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Acute Kidney Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
104
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
strong |
1.000 |
1 |
|
1995 |
1995 |
Sandhoff Disease, Infantile Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Kidney Failure, Acute
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
826
|
32
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
71
|
9
|
0.300 |
strong |
1.000 |
1 |
|
1995 |
1995 |
Total Hexosaminidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
SANDHOFF DISEASE, CHRONIC
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
1998 |
1998 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Chronic diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Erectile dysfunction
|
disease |
Male Urogenital Diseases; Mental Disorders
|
Disease or Syndrome
|
256
|
44
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of glycosphingolipid metabolism
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Upper motor neuron dysfunction
|
phenotype |
|
Pathologic Function
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|