Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.720 |
None |
1.000 |
4 |
15
|
2011 |
2012 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.680 |
None |
1.000 |
9 |
2
|
2016 |
2019 |
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
|
phenotype |
|
Finding
|
1
|
4
|
0.600 |
moderate |
1.000 |
3 |
4
|
2016 |
2018 |
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.510 |
None |
1.000 |
2 |
|
2011 |
2012 |
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.400 |
None |
1.000 |
2 |
1
|
2011 |
2012 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.340 |
None |
1.000 |
4 |
|
2011 |
2017 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2012 |
Mohr Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
2
|
0.310 |
None |
1.000 |
2 |
|
2016 |
2017 |
Amyotrophic Lateral Sclerosis With Dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Amyotrophic Lateral Sclerosis, Guam Form
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Oral-facial-digital syndrome, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Large cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
67
|
7
|
0.300 |
None |
|
0 |
|
|
|
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.300 |
None |
|
0 |
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
69
|
317
|
0.200 |
None |
1.000 |
3 |
|
1997 |
2008 |
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
276
|
54
|
0.120 |
None |
1.000 |
2 |
|
2003 |
2017 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.110 |
None |
1.000 |
1 |
6
|
2017 |
2017 |
Thoracic dysplasia
|
disease |
|
Congenital Abnormality
|
6
|
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Short ribs
|
phenotype |
|
Finding
|
60
|
27
|
0.100 |
None |
|
0 |
|
|
|
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
55
|
14
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly preaxial type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|