Obstruction of colon
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Paroxysmal sympathetic hyperactivity
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
|
disease |
|
Finding
|
1
|
4
|
0.100 |
None |
|
0 |
4
|
|
|
Increased extraneuronal autofluorescent lipopigment
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Concentric hypertrophic cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
|
0 |
|
|
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
66
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2017 |
MACULAR DEGENERATION, EARLY-ONSET
|
disease |
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Vacuolated lymphocytes
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Increased neuronal autofluorescent lipopigment
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Vacuolated Lymphocyte Count
|
phenotype |
|
Laboratory Procedure
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive inability to walk
|
phenotype |
|
Finding
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
|
disease |
|
Disease or Syndrome
|
11
|
13
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Retinal toxicity
|
disease |
|
Anatomical Abnormality
|
12
|
|
0.010 |
None |
< 0.001 |
1 |
|
2016 |
2016 |
Psychomotor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
X-linked myopathy with excessive autophagy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.500 |
None |
1.000 |
7 |
|
1999 |
2016 |
Vacuolar myopathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2019 |
Gangliosidoses, GM2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
5
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
4
|
0.540 |
None |
1.000 |
11 |
|
1994 |
2017 |
Undetectable electroretinogram
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Infantile neuronal ceroid lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
22
|
4
|
0.300 |
None |
|
0 |
|
|
|
Storage disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
28
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |