JOUBERT SYNDROME 7
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
23
|
0.900 |
None |
1.000 |
5 |
23
|
2007 |
2015 |
COACH syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
38
|
0.710 |
None |
1.000 |
3 |
4
|
2007 |
2010 |
MECKEL SYNDROME, TYPE 5
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
4 |
3
|
2007 |
2010 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
212
|
|
0.500 |
strong |
1.000 |
2 |
|
2007 |
2007 |
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
|
0.480 |
None |
0.909 |
1 |
14
|
2007 |
2017 |
Meckel-Gruber syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
15
|
105
|
0.420 |
None |
1.000 |
2 |
11
|
2007 |
2015 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
88
|
9
|
0.410 |
None |
1.000 |
2 |
|
2007 |
2007 |
Meckel syndrome type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
18
|
30
|
0.370 |
None |
1.000 |
1 |
|
2007 |
2015 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
110
|
1
|
0.370 |
None |
1.000 |
0 |
|
2007 |
2019 |
Cerebellar Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2007 |
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
402
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2007 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
47
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2007 |
JOUBERT SYNDROME 4 (disorder)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
21
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
117
|
37
|
0.300 |
None |
|
0 |
|
|
|