Hereditary Multiple Exostoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Congenital Abnormality
|
32
|
51
|
0.700 |
None |
0.977 |
86 |
|
1994 |
2019 |
Osteochondromatosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
10
|
1
|
0.100 |
None |
0.920 |
25 |
|
2005 |
2019 |
Cartilaginous exostosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
47
|
2
|
0.100 |
None |
1.000 |
21 |
|
1998 |
2017 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
13 |
|
1995 |
2015 |
External exotoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
109
|
|
0.100 |
None |
1.000 |
10 |
|
1998 |
2015 |
Exostoses
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
37
|
|
0.200 |
None |
1.000 |
10 |
|
1998 |
2015 |
Hereditary multiple osteochondromas
|
disease |
|
Congenital Abnormality
|
2
|
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2019 |
Chromosome 11p11.2 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
65
|
6
|
0.340 |
None |
1.000 |
4 |
|
2001 |
2015 |
Malignant transformation
|
phenotype |
|
Neoplastic Process
|
1027
|
20
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2017 |
Multiple osteochondroma of long bone
|
disease |
|
Neoplastic Process
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Disorder of skeletal system
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
1
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2015 |
Bone Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
317
|
10
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2000 |
PARIETAL FORAMINA
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
20
|
5
|
0.120 |
None |
1.000 |
2 |
|
2005 |
2019 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mucopolysaccharidosis Type IIIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
69
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Multiple Chronic Conditions
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
929
|
42
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Benign Neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
371
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dent's disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
12
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pick Disease of the Brain
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
83
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Metachondromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
29
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |