Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Progressive pseudorheumatoid dysplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
64
|
27
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.020 |
None |
1.000 |
2 |
|
1992 |
1994 |
Kashin-Beck Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
43
|
0.010 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
|
0 |
|
|
|
Abnormality of epiphysis morphology
|
phenotype |
|
Anatomical Abnormality
|
86
|
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Macular dystrophy, corneal type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
100
|
54
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.120 |
None |
1.000 |
2 |
|
1996 |
2005 |
Hypercalcemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
157
|
9
|
0.100 |
None |
|
0 |
|
|
|
Osteoarthritis of hip
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
164
|
121
|
0.210 |
None |
1.000 |
2 |
|
2011 |
2012 |
Keloid
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
165
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Inflammatory Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
183
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
tumor vasculature
|
phenotype |
|
Neoplastic Process
|
200
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2017 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Noninfiltrating Intraductal Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
486
|
13
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |