Hereditary Multiple Exostoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Congenital Abnormality
|
32
|
51
|
1.000 |
definitive |
0.977 |
130 |
50
|
1989 |
2019 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.800 |
None |
0.947 |
19 |
2
|
1995 |
2018 |
Langer-Giedion Syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
3
|
0.600 |
strong |
1.000 |
13 |
|
1995 |
2018 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.320 |
None |
1.000 |
2 |
|
2004 |
2017 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.310 |
None |
1.000 |
1 |
|
2002 |
2002 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Premature aging syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
136
|
5
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.200 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
2002 |
2015 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.110 |
None |
1.000 |
1 |
|
1995 |
1995 |
Cartilaginous exostosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
47
|
2
|
0.100 |
None |
1.000 |
36 |
|
1998 |
2019 |
Osteochondromatosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
10
|
1
|
0.100 |
None |
0.968 |
31 |
1
|
2004 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.963 |
27 |
|
1995 |
2019 |
Exostoses
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
37
|
|
0.100 |
None |
1.000 |
18 |
|
2000 |
2015 |
External exotoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
109
|
|
0.100 |
None |
1.000 |
18 |
|
2000 |
2015 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
452
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Left ventricular mass
|
phenotype |
|
Finding
|
5
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Short metacarpal
|
phenotype |
|
Finding
|
66
|
7
|
0.100 |
None |
|
0 |
|
|
|