VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.600 |
strong |
1.000 |
1 |
2
|
2017 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.200 |
None |
1.000 |
1 |
|
1989 |
1989 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.110 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Laryngotracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
11
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic cervical vertebrae
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Butterfly vertebrae
|
phenotype |
|
Congenital Abnormality
|
13
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Short 1st metacarpal
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic sacrum
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Aplasia of the semicircular canal
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Incomplete partition of the cochlea type II
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Defect of vertebral segmentation
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
6
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Tethered Cord Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
41
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Vesico-Ureteral Reflux
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
187
|
23
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |