Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.900 |
strong |
1.000 |
25 |
|
1986 |
2019 |
SCLEROSTEOSIS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
3
|
0.800 |
strong |
1.000 |
5 |
3
|
2001 |
2013 |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
2
|
0.730 |
strong |
1.000 |
3 |
1
|
2011 |
2017 |
Sclerosteosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
3
|
0.600 |
None |
1.000 |
31 |
1
|
1999 |
2019 |
Craniodiaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
2
|
0.330 |
None |
1.000 |
3 |
1
|
2011 |
2017 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.300 |
None |
|
0 |
|
|
|
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
|
0 |
|
|
|
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.300 |
None |
|
0 |
|
|
|
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
|
0 |
|
|
|
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
|
0 |
|
|
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.300 |
None |
|
0 |
|
|
|
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
|
0 |
|
|
|
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
|
0 |
|
|
|
Hyperostosis of skull
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.210 |
None |
1.000 |
3 |
|
2008 |
2017 |
Osteosclerosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
1
|
0.160 |
None |
1.000 |
6 |
|
2011 |
2018 |
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.110 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.100 |
None |
1.000 |
68 |
|
2004 |
2020 |
Bone Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
317
|
10
|
0.100 |
None |
0.960 |
25 |
|
2005 |
2019 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
1.000 |
25 |
|
2014 |
2019 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.100 |
None |
0.957 |
23 |
|
2017 |
2020 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
0.867 |
15 |
|
2017 |
2020 |
Ankylosing spondylitis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
710
|
609
|
0.100 |
None |
0.909 |
11 |
|
2017 |
2020 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.100 |
None |
1.000 |
10 |
|
2008 |
2019 |
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|