Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Fissured tongue
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
36
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
9
|
10
|
0.200 |
None |
|
0 |
|
|
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
15
|
3
|
0.200 |
None |
|
0 |
|
|
|
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.200 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
1
|
|
|
Round face
|
phenotype |
|
Finding
|
88
|
3
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
1
|
|
|
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|
Freeman-Sheldon syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
26
|
6
|
0.200 |
None |
|
0 |
|
|
|
Hecht syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.200 |
None |
|
0 |
|
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
6
|
0.200 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
1
|
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
|
0 |
|
|
|
Adducted thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 1B
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.200 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|