Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
1.000 |
definitive |
0.985 |
37 |
6
|
1991 |
2020 |
FRAGILE X TREMOR/ATAXIA SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.900 |
None |
0.995 |
2 |
|
2003 |
2019 |
Premature Ovarian Failure 1
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
2
|
0.600 |
None |
1.000 |
1 |
|
2003 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
261
|
181
|
0.500 |
None |
0.965 |
5 |
|
1992 |
2019 |
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 |
0.989 |
2 |
|
1992 |
2020 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
883
|
1629
|
0.400 |
None |
1.000 |
2 |
|
1995 |
2019 |
Cognition Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
38
|
|
0.400 |
None |
1.000 |
1 |
|
2003 |
2019 |
Anxiety Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
44
|
20
|
0.400 |
None |
1.000 |
1 |
|
2002 |
2019 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
21
|
5
|
0.400 |
None |
0.926 |
1 |
|
1994 |
2019 |
FRAXA Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.350 |
None |
1.000 |
8 |
|
1995 |
2017 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
243
|
1103
|
0.330 |
None |
0.500 |
2 |
|
2009 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
11
|
|
0.330 |
None |
1.000 |
1 |
|
2010 |
2018 |
FRAXE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.310 |
None |
1.000 |
8 |
|
1999 |
2017 |
Unipolar Depression
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
259
|
88
|
0.310 |
None |
0.500 |
2 |
|
2009 |
2015 |
Mixed anxiety and depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2
|
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2013 |
Depressive Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
26
|
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
156
|
|
0.300 |
None |
1.000 |
2 |
|
2006 |
2011 |
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 |
|
2004 |
2010 |
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 |
|
2004 |
2010 |
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 |
|
2004 |
2010 |
Hypergonadotropic Ovarian Failure, X-Linked
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Gonadal Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Mood instability
|
phenotype |
|
Finding
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Anxiety neurosis (finding)
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
44
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |