SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
19
|
0.870 |
None |
1.000 |
10 |
9
|
2004 |
2018 |
Larsen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
14
|
0.800 |
None |
1.000 |
12 |
14
|
2004 |
2017 |
Atelosteogenesis, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
24
|
0.760 |
None |
1.000 |
7 |
24
|
2004 |
2017 |
Boomerang dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
9
|
0.750 |
None |
1.000 |
6 |
9
|
2004 |
2018 |
Atelosteogenesis Type 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
2
|
0.710 |
None |
1.000 |
2 |
2
|
2004 |
2006 |
Larsen syndrome, dominant type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Wounds and Injuries
|
Disease or Syndrome
|
2
|
|
0.510 |
None |
1.000 |
2 |
|
2004 |
2007 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.340 |
None |
1.000 |
4 |
1
|
2009 |
2018 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
< 0.001 |
1 |
|
2004 |
2004 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Other congenital malformations of spine, not associated with scoliosis
|
disease |
|
Congenital Abnormality
|
1
|
|
0.200 |
None |
1.000 |
2 |
|
2007 |
2008 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.120 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Tarsal Coalition
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
1
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital dislocation of knee
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
Congenital Abnormality
|
1
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
13 |
|
2004 |
2019 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.100 |
None |
1.000 |
11 |
|
1993 |
2018 |
Ankylosing spondylitis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
710
|
609
|
0.100 |
None |
1.000 |
10 |
|
1994 |
2017 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
2
|
2019 |
2019 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Other eating disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
6
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Eating Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
133
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Reticulocyte count (procedure)
|
phenotype |
|
Laboratory Procedure
|
234
|
474
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Spatulate thumbs
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|