Hypoplasia of right heart
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.400 |
strong |
1.000 |
2 |
5
|
2016 |
2018 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
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
|
3
|
11
|
0.100 |
None |
1.000 |
1 |
5
|
2016 |
2016 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
|
disease |
|
Disease or Syndrome
|
3
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
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
|
|
0.320 |
None |
1.000 |
2 |
|
2016 |
2018 |
Duplication of the distal phalanx of hand
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid distal phalanx of toe
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Onychogryposis of fingernail
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Naevus flammeus of the eyelid
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Short hard palate
|
disease |
|
Anatomical Abnormality
|
7
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital euryblepharon
|
disease |
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Ridged fingernail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Broad toe
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fingernail dysplasia
|
disease |
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular mouth
|
phenotype |
|
Finding
|
14
|
|
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 |
|
|
|
Short middle phalanx of the 5th finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Hernia, Femoral
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital atresia of pulmonary artery
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
19
|
5
|
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
|
0.540 |
None |
1.000 |
4 |
|
2016 |
2018 |
Accessory kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
20
|
1
|
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 |
|
|
|
Bifid tongue
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
24
|
1
|
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 |
|
|
|