Fragile X chromosome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
1993 |
2016 |
neurodevelopmental anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
digestive problem
|
phenotype |
|
Sign or Symptom
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Central pain syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Agoraphobia without panic disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Folate-dependent fragile site at Xq28
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired tandem gait
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital macroorchidism
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Developmental symptoms
|
phenotype |
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
psychosocial impairment
|
disease |
|
Mental or Behavioral Dysfunction
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Gonadal Agenesis
|
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 |
Mood instability
|
phenotype |
|
Finding
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Macroorchidism, postpubertal
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Learning disabled
|
disease |
|
Mental or Behavioral Dysfunction
|
3
|
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2001 |
Panic disorder without agoraphobia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adrenalitis
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
SCHIZOPHRENIA 11
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Premature ovarian failure, familial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
disease |
|
Disease or Syndrome
|
3
|
43
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Avoidant Personality Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Phobia, Specific
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Autoimmune thyroid disorder
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Inertia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Broad autism phenotype
|
disease |
|
Mental or Behavioral Dysfunction
|
6
|
|
0.020 |
None |
0.500 |
2 |
|
2012 |
2019 |