JOUBERT SYNDROME 3
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
45
|
0.900 |
None |
1.000 |
7 |
45
|
1992 |
2017 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
30
|
175
|
0.700 |
None |
0.969 |
1 |
9
|
2004 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.410 |
None |
1.000 |
1 |
|
2006 |
2011 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
104
|
422
|
0.410 |
None |
1.000 |
0 |
7
|
2015 |
2015 |
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
21
|
31
|
0.400 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Immunoglobulin A deficiency (disorder)
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
21
|
0.400 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
883
|
1629
|
0.400 |
None |
1.000 |
1 |
|
2006 |
2018 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
261
|
181
|
0.340 |
None |
1.000 |
1 |
|
2008 |
2010 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
110
|
1
|
0.340 |
None |
1.000 |
0 |
|
2013 |
2019 |
Joubert syndrome with ocular defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebellar Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
JOUBERT SYNDROME 17
|
disease |
|
Disease or Syndrome
|
5
|
65
|
0.300 |
strong |
1.000 |
1 |
|
2006 |
2006 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
21
|
2
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
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 |
1 |
|
2011 |
2011 |
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 |
1 |
|
2011 |
2011 |
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 |
1 |
|
2011 |
2011 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
117
|
37
|
0.300 |
None |
1.000 |
1 |
|
1992 |
1992 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
212
|
|
0.300 |
strong |
|
0 |
|
|
|