Metaphyseal chondrodysplasia Schmid type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
16
|
0.950 |
None |
1.000 |
17 |
16
|
1994 |
2019 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
|
0 |
|
|
|
Osteoarthritis of hip
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
164
|
121
|
0.210 |
None |
1.000 |
2 |
|
2011 |
2012 |
Cervical Disc Degenerative Disorder
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Metaphyseal chondrodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.180 |
None |
1.000 |
8 |
1
|
1996 |
2018 |
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.120 |
None |
1.000 |
2 |
|
1996 |
2005 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.110 |
None |
1.000 |
2 |
2
|
2011 |
2013 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.100 |
None |
1.000 |
10 |
1
|
2010 |
2018 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Irregular vertebral endplates
|
phenotype |
|
Finding
|
24
|
2
|
0.100 |
None |
|
0 |
|
|
|
Diaphyseal thickening
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal cupping of proximal phalanges
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular acetabular roof
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of epiphysis morphology
|
phenotype |
|
Anatomical Abnormality
|
86
|
|
0.100 |
None |
|
0 |
|
|
|
Distal tibial bowing
|
disease |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad middle phalanx of finger
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|