Subglottic stenosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
2002 |
2017 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
21
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
16
|
1.000 |
definitive |
0.974 |
54 |
16
|
1982 |
2020 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
468
|
0.120 |
None |
1.000 |
9 |
1
|
2005 |
2017 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
9
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
22
|
24
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
92
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
38
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
12
|
12
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
153
|
0.640 |
|
1.000 |
3 |
1
|
2006 |
2018 |
NOONAN SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
32
|
0.100 |
None |
1.000 |
2 |
2
|
1986 |
1991 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Cardiomyopathies, Primary
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Facial wart
|
disease |
Neoplasms; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
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
|
5
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Organoid Nevus Phakomatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.710 |
strong |
1.000 |
0 |
4
|
2005 |
2014 |
NEVUS, EPIDERMAL (disorder)
|
disease |
Neoplasms
|
Disease or Syndrome
|
6
|
17
|
0.420 |
None |
1.000 |
0 |
3
|
2014 |
2019 |
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.100 |
None |
|
0 |
4
|
|
|
Noonan Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
73
|
0.400 |
None |
1.000 |
0 |
1
|
2007 |
2007 |
Nevus Sebaceus of Jadassohn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.720 |
limited |
1.000 |
0 |
4
|
2012 |
2017 |
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
20
|
33
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Deep palmar crease
|
phenotype |
|
Finding
|
7
|
8
|
0.100 |
None |
1.000 |
9 |
1
|
2005 |
2009 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
336
|
579
|
0.100 |
None |
1.000 |
5 |
1
|
2006 |
2012 |