NOONAN SYNDROME 10
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.910 |
None |
1.000 |
9 |
6
|
2006 |
2019 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
85
|
187
|
0.900 |
strong |
1.000 |
14 |
1
|
2014 |
2020 |
Noonan Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
15
|
0.620 |
strong |
1.000 |
6 |
15
|
2015 |
2020 |
Schwannomatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Neoplastic Process
|
18
|
2
|
0.600 |
None |
1.000 |
17 |
|
2014 |
2020 |
SCHWANNOMATOSIS 2
|
disease |
|
Disease or Syndrome
|
1
|
20
|
0.600 |
None |
1.000 |
8 |
20
|
2014 |
2019 |
Giant Cell Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.500 |
None |
1.000 |
3 |
|
2013 |
2013 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.330 |
None |
1.000 |
4 |
|
2013 |
2020 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.330 |
None |
1.000 |
4 |
|
2013 |
2020 |
Increased nuchal translucency
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
30
|
2
|
0.300 |
strong |
1.000 |
2 |
|
2015 |
2018 |
gliosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
80
|
5
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2013 |
Neurofibromatosis, Type 3, mixed central and peripheral
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
GLIOMA SUSCEPTIBILITY 1
|
phenotype |
|
Finding
|
6
|
14
|
0.300 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Neurofibromatosis 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
SCHWANNOMATOSIS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Neoplastic Process
|
3
|
5
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cardio-facio-cutaneous syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
28
|
82
|
0.300 |
|
|
0 |
|
|
|
Noonan-Like Syndrome With Loose Anagen Hair
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
4
|
0.300 |
|
|
0 |
|
|
|
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.300 |
|
|
0 |
|
|
|
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
14
|
0.300 |
strong |
|
0 |
|
|
|
LEOPARD Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
27
|
0.300 |
|
|
0 |
|
|
|
Noonan syndrome-like disorder with loose anagen hair
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.300 |
|
|
0 |
|
|
|
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
11
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Robinow Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
20
|
3
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |