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 |
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
4 |
6
|
2002 |
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 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Exostoses
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
37
|
|
0.200 |
None |
1.000 |
10 |
|
1998 |
2015 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.160 |
None |
1.000 |
6 |
1
|
1999 |
2017 |
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 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
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 |
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 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Defect of skull ossification
|
group |
|
Congenital Abnormality
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rib exostoses
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Short metacarpal
|
phenotype |
|
Finding
|
66
|
7
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
|
|
|