Robinow Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
20
|
3
|
0.530 |
None |
1.000 |
4 |
|
2015 |
2018 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
|
disease |
|
Disease or Syndrome
|
3
|
18
|
0.400 |
strong |
1.000 |
4 |
13
|
2015 |
2018 |
Robinow Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
11
|
|
0.300 |
moderate |
|
0 |
|
|
|
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
53
|
69
|
0.300 |
moderate |
|
0 |
|
|
|
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
3 |
1
|
2007 |
2015 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Accessory kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Small labia majora
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
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 euryblepharon
|
disease |
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Avascular necrosis of the capital femoral epiphysis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of the 5th finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Radial deviation of finger
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Mesomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|