Exostosis of external ear canal
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Neck pterygia
|
phenotype |
Eye Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior clefting of vertebral bodies
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Dysplastic patella
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of labia majora
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Intercrural pterygium
|
phenotype |
Eye Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Morphological abnormality of the gastrointestinal tract
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral camptodactyly
|
disease |
|
Congenital Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pterygium, Antecubital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic heart
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple pterygia
|
phenotype |
Eye Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cervical curvature
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Popliteal pterygium
|
phenotype |
Eye Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Axillary pterygium
|
phenotype |
Eye Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
13
|
0.710 |
None |
1.000 |
4 |
5
|
2006 |
2019 |
Multiple pterygium syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
9
|
11
|
0.780 |
None |
1.000 |
11 |
11
|
2006 |
2019 |
Talipes Calcaneovalgus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Camptodactyly of toe
|
disease |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Long clavicle
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of muscle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Symphalangism affecting the phalanges of the hand
|
disease |
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Fused cervical vertebrae
|
disease |
|
Congenital Abnormality
|
15
|
2
|
0.100 |
None |
|
0 |
|
|
|
Diaphragmatic Eventration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
16
|
6
|
0.100 |
None |
|
0 |
|
|
|
Patellar aplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
17
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital Myasthenic Syndromes, Postsynaptic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |