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
|
0.320 |
None |
0.667 |
3 |
1
|
2011 |
2019 |
MECKEL SYNDROME, TYPE 10
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.500 |
None |
1.000 |
2 |
4
|
2011 |
2015 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2015 |
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
|
0.410 |
None |
1.000 |
2 |
4
|
2011 |
2015 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.100 |
None |
1.000 |
1 |
3
|
2014 |
2014 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Meckel-Gruber syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
26
|
105
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly preaxial type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Urethral atresia
|
disease |
|
Congenital Abnormality
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ulnar polydactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
92
|
11
|
0.100 |
None |
|
0 |
|
|
|
Sclerocornea
|
disease |
Eye Diseases
|
Disease or Syndrome
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Bowing of the long bones
|
phenotype |
|
Congenital Abnormality
|
63
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cystic liver disease
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormal chorioretinal morphology
|
disease |
|
Anatomical Abnormality
|
36
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the iris
|
disease |
|
Anatomical Abnormality
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the tongue
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
170
|
17
|
0.100 |
None |
|
0 |
|
|
|