Periventricular Heterotopia, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
38
|
0.810 |
strong |
1.000 |
12 |
38
|
1998 |
2013 |
Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.700 |
None |
0.978 |
46 |
25
|
1998 |
2019 |
Frontometaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
16
|
0.700 |
strong |
1.000 |
14 |
16
|
2003 |
2018 |
OTOPALATODIGITAL SYNDROME, TYPE II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
21
|
0.700 |
None |
0.923 |
13 |
21
|
2003 |
2017 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.680 |
strong |
1.000 |
12 |
19
|
2003 |
2018 |
Oto-Palato-digital syndrome type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
4
|
0.620 |
strong |
1.000 |
7 |
4
|
2003 |
2017 |
Terminal Osseous Dysplasia and Pigmentary Defects
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
1
|
0.610 |
strong |
1.000 |
4 |
1
|
2003 |
2017 |
Cardiac valvular dysplasia, X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
4
|
0.610 |
strong |
1.000 |
2 |
3
|
2006 |
2007 |
FG SYNDROME 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.600 |
strong |
1.000 |
2 |
1
|
2004 |
2007 |
FRONTOMETAPHYSEAL DYSPLASIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
3
|
0.590 |
strong |
1.000 |
12 |
3
|
2003 |
2018 |
Congenital idiopathic intestinal pseudoobstruction
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.510 |
strong |
1.000 |
3 |
3
|
2004 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.500 |
limited |
1.000 |
7 |
|
2006 |
2016 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.440 |
None |
1.000 |
5 |
|
1982 |
2018 |
Intestinal Pseudo-Obstruction
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
32
|
5
|
0.430 |
None |
1.000 |
3 |
|
2007 |
2013 |
Bilateral Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
1
|
0.400 |
None |
1.000 |
13 |
1
|
1998 |
2015 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.380 |
None |
1.000 |
9 |
|
1990 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.370 |
None |
1.000 |
8 |
|
1990 |
2018 |
Macrothrombocytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
34
|
31
|
0.350 |
None |
1.000 |
5 |
1
|
2010 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.340 |
None |
1.000 |
4 |
|
2002 |
2019 |
FG syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
12
|
0.310 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.300 |
strong |
1.000 |
2 |
|
2004 |
2017 |
Phyllodes Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
100
|
1
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Malignant Cystosarcoma Phyllodes
|
disease |
Neoplasms
|
Neoplastic Process
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |