CHROMOSOME 2p16.3 DELETION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.400 |
None |
|
0 |
1
|
|
|
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
17
|
350
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Auditory Processing Disorder, Central
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Semantic-Pragmatic Disorder
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Language Delay
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Language Development Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
11
|
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2011 |
Speech Delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
11
|
8
|
0.320 |
None |
1.000 |
1 |
|
2010 |
2012 |
PITT-HOPKINS-LIKE SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
strong |
1.000 |
1 |
3
|
2009 |
2014 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
477
|
552
|
0.320 |
None |
1.000 |
2 |
|
2011 |
2016 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
2
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2017 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.400 |
None |
1.000 |
2 |
|
2008 |
2017 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2017 |
PITT-HOPKINS SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
3
|
58
|
0.350 |
None |
1.000 |
1 |
|
2009 |
2018 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
261
|
181
|
0.700 |
None |
0.962 |
4 |
|
2007 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
883
|
1629
|
0.700 |
None |
0.932 |
3 |
1
|
2008 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
85
|
75
|
0.600 |
None |
1.000 |
1 |
|
2008 |
2019 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
289
|
7
|
0.320 |
None |
1.000 |
1 |
|
2010 |
2019 |
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
254
|
|
0.320 |
None |
1.000 |
1 |
|
2010 |
2019 |