Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
15
|
0.200 |
None |
1.000 |
15 |
3
|
2006 |
2020 |
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
19
|
0.460 |
None |
1.000 |
6 |
9
|
2016 |
2018 |
ARTHROGRYPOSIS, DISTAL, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
9
|
10
|
0.340 |
None |
1.000 |
5 |
|
1997 |
2013 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2008 |
Multiple pterygium syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
9
|
11
|
0.310 |
None |
1.000 |
2 |
|
2015 |
2018 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2008 |
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2018 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.020 |
None |
1.000 |
2 |
1
|
2008 |
2015 |
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2015 |
Prognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Congenital retrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Basilar invagination
|
disease |
|
Congenital Abnormality
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Digitotalar Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
123
|
10
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Scott Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Axillary pterygium
|
phenotype |
Eye Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|