NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
9 |
2
|
2009 |
2015 |
Loose anagen hair
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
2
|
0.040 |
None |
1.000 |
4 |
1
|
2010 |
2019 |
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
|
0.100 |
None |
1.000 |
12 |
1
|
2009 |
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 |
|
2009 |
2009 |
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 |
|
2009 |
2009 |
Abnormality of the elbow
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hair Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Noonan syndrome-like disorder with loose anagen hair
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.310 |
definitive |
1.000 |
7 |
|
2009 |
2016 |
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
|
0.700 |
definitive |
1.000 |
17 |
1
|
2009 |
2019 |
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 |
|
2009 |
2009 |
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
|
0.310 |
disputed |
1.000 |
1 |
|
2010 |
2010 |
Abnormality of the intervertebral disk
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
34
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormal palate morphology
|
disease |
|
Finding
|
40
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic toenails
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Deep philtrum
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
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
|
0.310 |
|
1.000 |
1 |
|
2011 |
2011 |
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.310 |
disputed |
1.000 |
2 |
|
2010 |
2011 |
Aplasia/Hypoplasia of the eyebrow
|
phenotype |
|
Finding
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Aspartate aminotransferase measurement
|
phenotype |
|
Laboratory Procedure
|
57
|
76
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
65
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neck webbing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
78
|
19
|
0.100 |
None |
|
0 |
|
|
|
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
85
|
187
|
0.800 |
disputed |
0.957 |
23 |
1
|
2009 |
2019 |