Omodysplasia 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
2
|
0.710 |
strong |
1.000 |
4 |
2
|
2015 |
2018 |
Hypoplastic distal humeri
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Omodysplasia
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Limited elbow flexion/extension
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
|
disease |
|
Disease or Syndrome
|
3
|
18
|
0.100 |
None |
|
0 |
4
|
|
|
Onychogryposis of fingernail
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Pentalogy of Cantrell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Naevus flammeus of the eyelid
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Rhizomelic arm shortening
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital euryblepharon
|
disease |
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Ridged fingernail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid nasal tip
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Fingernail dysplasia
|
disease |
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Curly eyelashes
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Median cleft lip and palate
|
disease |
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Hernia, Femoral
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Short 1st metacarpal
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.500 |
strong |
1.000 |
2 |
|
2015 |
2018 |
Avascular necrosis of the capital femoral epiphysis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid tongue
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short humerus
|
phenotype |
|
Congenital Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital dislocation of radial head
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Epispadias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid scrotum
|
disease |
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|