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
|
0.800 |
definitive |
0.966 |
29 |
8
|
2006 |
2019 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.670 |
None |
1.000 |
9 |
5
|
2011 |
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
|
0.640 |
limited |
1.000 |
11 |
2
|
2007 |
2019 |
CARDIOFACIOCUTANEOUS SYNDROME 4
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.600 |
None |
1.000 |
7 |
7
|
2006 |
2016 |
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.540 |
|
1.000 |
5 |
|
2007 |
2016 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
507
|
248
|
0.410 |
None |
1.000 |
2 |
2
|
2013 |
2016 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.320 |
None |
1.000 |
2 |
|
2015 |
2018 |
Neurofibromatosis-Noonan syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
25
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cafe-au-lait macules with pulmonary stenosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
3
|
18
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Adenoid Cystic Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
325
|
30
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
1 |
|
2007 |
2007 |
Noonan Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
83
|
0.300 |
None |
1.000 |
1 |
|
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 |
1 |
|
2007 |
2007 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.300 |
None |
|
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 |
|
|
|
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 |
|
|
|
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 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2019 |
Adenocarcinoma of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
518
|
138
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
453
|
235
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Hypoplasia of the optic nerve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|