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 |
EXOSTOSES, MULTIPLE, TYPE II
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
27
|
0.700 |
definitive |
1.000 |
37 |
27
|
1995 |
2018 |
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 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
0.667 |
12 |
3
|
2007 |
2015 |
External exotoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
109
|
|
0.100 |
None |
1.000 |
10 |
|
1998 |
2015 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.160 |
None |
1.000 |
6 |
1
|
1999 |
2017 |
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 |
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
4 |
6
|
2002 |
2019 |
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 |
Multiple osteochondroma of long bone
|
disease |
|
Neoplastic Process
|
2
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2016 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Enchondromatosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
2
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Membranous glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
197
|
33
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hyperostosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
3
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Lupus Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
503
|
64
|
0.010 |
None |
1.000 |
1 |
|
2019 |
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 |
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 |