Oculomelic amyoplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
11
|
0.750 |
strong |
1.000 |
5 |
11
|
2013 |
2019 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
15
|
3
|
0.740 |
strong |
1.000 |
5 |
3
|
2014 |
2019 |
MARDEN-WALKER SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
2
|
0.740 |
None |
1.000 |
4 |
1
|
2014 |
2019 |
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.600 |
None |
1.000 |
2 |
11
|
2016 |
2017 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.300 |
moderate |
1.000 |
1 |
|
2014 |
2014 |
ARTHROGRYPOSIS, DISTAL, TYPE 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
6
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
15
|
0.170 |
None |
1.000 |
7 |
1
|
2013 |
2019 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.130 |
None |
1.000 |
5 |
2
|
2017 |
2020 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.130 |
None |
1.000 |
3 |
|
2017 |
2020 |
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
3
|
2007 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
1
|
2007 |
2017 |
Early severe fetal akinesia sequence
|
phenotype |
|
Finding
|
12
|
15
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2020 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
Narrow nasal ridge
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
2
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|