Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
1.000 |
definitive |
0.967 |
180 |
122
|
1997 |
2020 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.500 |
None |
1.000 |
25 |
|
1999 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.350 |
None |
1.000 |
6 |
|
2003 |
2016 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
CUI: |
C0236018 |
Disease: |
Aura
|
Aura
|
phenotype |
Nervous System Diseases
|
Finding
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Epilepsy, Cryptogenic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
88
|
4
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Duplication 15q11-q13 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.160 |
None |
1.000 |
6 |
2
|
1999 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.140 |
None |
1.000 |
4 |
|
2006 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.140 |
None |
1.000 |
4 |
1
|
2015 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.130 |
None |
1.000 |
3 |
2
|
2015 |
2019 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.130 |
None |
1.000 |
3 |
|
2011 |
2019 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.110 |
None |
1.000 |
1 |
|
1999 |
1999 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
< 0.001 |
1 |
|
2008 |
2008 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.100 |
None |
1.000 |
25 |
|
2005 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.100 |
None |
1.000 |
17 |
|
2006 |
2019 |
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.100 |
None |
0.929 |
14 |
|
1999 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
2
|
1990 |
2015 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
12 |
3
|
1990 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
11 |
|
2005 |
2018 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.100 |
None |
1.000 |
10 |
|
1996 |
2019 |
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|