Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.700 |
limited |
1.000 |
45 |
|
1995 |
2020 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.410 |
strong |
1.000 |
2 |
|
2013 |
2019 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Congenital anomaly of the kidney
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
63
|
4
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.300 |
None |
|
0 |
|
|
|
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
|
0 |
|
|
|
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.120 |
None |
1.000 |
2 |
1
|
1999 |
2006 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
763
|
48
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.987 |
158 |
|
1990 |
2020 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.100 |
None |
0.985 |
137 |
|
1989 |
2020 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.100 |
None |
0.970 |
100 |
|
1989 |
2019 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.100 |
None |
0.969 |
98 |
|
1989 |
2019 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.100 |
None |
0.984 |
63 |
|
1998 |
2020 |
Diabetes, Autoimmune
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
172
|
4
|
0.100 |
None |
0.977 |
44 |
|
1995 |
2019 |