Noonan Syndrome 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
12
|
0.910 |
strong |
1.000 |
7 |
12
|
2007 |
2016 |
LEOPARD SYNDROME 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
6
|
0.700 |
strong |
1.000 |
3 |
6
|
2007 |
2013 |
Disorders of both mitral and tricuspid valves
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
1.000 |
2 |
1
|
2007 |
2007 |
Neonatal testicular torsion
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
CARDIOMYOPATHY, DILATED, 1NN
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.600 |
None |
1.000 |
1 |
9
|
2014 |
2014 |
Pointed helix
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital anomaly of cerebrovascular system
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cleft leaflet of mitral valve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
reproductive system disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Malignant tumor, fusiform cell type
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Benign Struma Ovarii
|
disease |
Neoplasms
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
GIANT PIGMENTED HAIRY NEVUS
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
5
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bisphosphonate-associated osteonecrosis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Leopard Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
26
|
0.500 |
strong |
1.000 |
1 |
|
2007 |
2007 |
Congenital malformation syndromes associated with short stature
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
|
0.200 |
None |
1.000 |
2 |
|
2011 |
2012 |
Histiocytosis, Non-Langerhans-Cell
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ewing's sarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Turner Syndrome, Male
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2007 |
Female Pseudo-Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
11
|
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2007 |
NOONAN SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
33
|
0.110 |
None |
1.000 |
2 |
1
|
1994 |
2012 |
Biventricular hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Viral hepatitis, type G
|
disease |
Infections
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Dubowitz syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
12
|
|
0.200 |
None |
1.000 |
2 |
|
2011 |
2012 |
Thanatophoric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
12
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bundle-Branch Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
|
0.100 |
None |
|
0 |
|
|
|