Micromelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
104
|
1
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Osteoarthrosis Deformans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
96
|
1
|
0.300 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Lumbar hyperlordosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
92
|
8
|
0.100 |
None |
|
0 |
|
|
|
Osteophyte
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
91
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2015 |
Osteoarthritis of the hand
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
21
|
0.070 |
None |
1.000 |
7 |
1
|
2003 |
2015 |
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal widening
|
phenotype |
|
Finding
|
43
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short long bone
|
phenotype |
|
Finding
|
42
|
19
|
0.100 |
None |
|
0 |
|
|
|
Enchondroma
|
disease |
Neoplasms
|
Neoplastic Process
|
41
|
13
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.500 |
strong |
1.000 |
16 |
1
|
2001 |
2019 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.100 |
None |
|
0 |
|
|
|
Spondyloepimetaphyseal disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
37
|
2
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2015 |
Disproportionate short-limb short stature
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Regular astigmatism - corneal
|
disease |
Eye Diseases
|
Disease or Syndrome
|
34
|
28
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Metaphyseal irregularity
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Clubbing
|
phenotype |
|
Sign or Symptom
|
32
|
1
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Thoracic hypoplasia
|
disease |
|
Congenital Abnormality
|
32
|
16
|
0.100 |
None |
|
0 |
|
|
|
Short femoral neck
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
116
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |