Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.400 |
limited |
|
0 |
1
|
|
|
Ehlers-Danlos Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
77
|
14
|
0.600 |
strong |
1.000 |
19 |
7
|
1991 |
2020 |
Autoimmune Lymphoproliferative Syndrome Type 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
14
|
2
|
0.310 |
strong |
1.000 |
2 |
1
|
1991 |
2017 |
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
strong |
|
0 |
|
|
|
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
90
|
91
|
0.900 |
None |
0.984 |
185 |
49
|
1985 |
2020 |
Lobstein Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
13
|
257
|
1.000 |
None |
0.976 |
124 |
192
|
1988 |
2019 |
Giant Cell Fibroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
77
|
|
0.100 |
None |
0.965 |
57 |
|
1997 |
2019 |
Dermatofibrosarcoma Protuberans
|
disease |
Neoplasms
|
Neoplastic Process
|
78
|
|
0.400 |
None |
0.964 |
55 |
|
1997 |
2019 |
Osteogenesis imperfecta, dominant perinatal lethal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
8
|
93
|
0.890 |
None |
1.000 |
43 |
62
|
1986 |
2019 |
Dermatofibrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
33
|
|
0.100 |
None |
0.933 |
30 |
|
1997 |
2019 |
Osteogenesis imperfecta type III (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
67
|
0.990 |
None |
1.000 |
28 |
31
|
1989 |
2018 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.700 |
None |
1.000 |
27 |
1
|
1996 |
2017 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.840 |
25 |
|
1999 |
2019 |
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
12
|
65
|
0.970 |
None |
1.000 |
22 |
35
|
1989 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
20 |
1
|
1957 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
20 |
2
|
1957 |
2017 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.100 |
None |
1.000 |
16 |
|
1990 |
2019 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.400 |
None |
0.929 |
14 |
|
2011 |
2019 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.100 |
None |
0.917 |
12 |
|
2015 |
2019 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.200 |
None |
0.900 |
10 |
1
|
1998 |
2018 |
Cortical Congenital Hyperostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
10
|
0.770 |
None |
1.000 |
9 |
9
|
1993 |
2019 |
Otosclerosis
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
49
|
11
|
0.190 |
None |
0.778 |
9 |
1
|
2002 |
2014 |
Osteoporotic Fractures
|
group |
Wounds and Injuries
|
Disease or Syndrome
|
108
|
40
|
0.080 |
None |
1.000 |
8 |
1
|
2000 |
2011 |