Hypoplasia of the primary teeth
|
phenotype |
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Finger symphalangism
|
disease |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Metaphyseal spurs
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Mainzer-Saldino Disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
20
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Short rib dysplasia
|
disease |
Musculoskeletal Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.200 |
None |
|
0 |
|
|
|
Asphyxiating thoracic dysplasia [Jeune]
|
disease |
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
|
0 |
|
|
|
Acetabular spurs
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Short rib-polydactyly syndrome, Verma-Naumoff type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
2
|
0.750 |
None |
1.000 |
6 |
2
|
2009 |
2018 |
Urethrovaginal fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pelvis bone ossification
|
disease |
|
Anatomical Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid epiglottis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the pelvis
|
phenotype |
|
Finding
|
8
|
13
|
0.100 |
None |
|
0 |
9
|
|
|
Congenital duplication of uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Absent or minimally ossified vertebral bodies
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
J-shaped sella turcica
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Asphyxiating Thoracic Dystrophy 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
11
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
VATER Association
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
|
0.200 |
None |
|
0 |
|
|
|
Hooked clavicle
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.910 |
None |
1.000 |
8 |
101
|
2009 |
2018 |
Lethal skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.600 |
None |
1.000 |
3 |
2
|
2011 |
2012 |
Ectopic anus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.320 |
None |
1.000 |
3 |
|
2009 |
2018 |
Cleft face
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the odontoid process
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
1
|
|
|