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
|
53
|
38
|
0.800 |
None |
0.929 |
28 |
32
|
1969 |
2019 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.740 |
None |
1.000 |
5 |
2
|
2004 |
2012 |
BARDET-BIEDL SYNDROME 13
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
24
|
0.700 |
None |
1.000 |
12 |
24
|
1969 |
2016 |
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
|
95
|
187
|
0.660 |
None |
1.000 |
14 |
22
|
2006 |
2017 |
Meckel-Gruber syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
26
|
105
|
0.430 |
None |
1.000 |
15 |
11
|
2006 |
2017 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.430 |
None |
1.000 |
4 |
5
|
2002 |
2013 |
JOUBERT SYNDROME 28
|
disease |
|
Disease or Syndrome
|
2
|
24
|
0.400 |
None |
1.000 |
11 |
24
|
1969 |
2016 |
Occipital Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
9
|
0.400 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.400 |
strong |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.340 |
None |
1.000 |
4 |
|
2007 |
2016 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Renal fibrosis
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
570
|
1
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
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
|
26
|
31
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
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 |
|
2014 |
2014 |
Polycystic Kidney - body part
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
54
|
1
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.300 |
strong |
1.000 |
1 |
|
2006 |
2006 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.210 |
None |
1.000 |
2 |
|
2004 |
2010 |
Endocardial Cushion Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
71
|
4
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital cystic kidney disease
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome; Congenital Abnormality
|
31
|
|
0.200 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.140 |
None |
1.000 |
4 |
|
2017 |
2018 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.100 |
None |
1.000 |
16 |
|
2005 |
2020 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.100 |
None |
1.000 |
15 |
|
2005 |
2020 |