ARTHROGRYPOSIS, DISTAL, TYPE 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
6
|
0.960 |
strong |
1.000 |
10 |
4
|
2003 |
2018 |
ARTHROGRYPOSIS, DISTAL, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
9
|
10
|
0.540 |
None |
1.000 |
6 |
|
1997 |
2016 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.420 |
strong |
1.000 |
3 |
|
2005 |
2013 |
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
15
|
0.400 |
None |
1.000 |
11 |
1
|
2006 |
2020 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.310 |
None |
1.000 |
2 |
|
2006 |
2009 |
Digitotalar Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Freeman-Sheldon syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
26
|
6
|
0.240 |
None |
1.000 |
5 |
|
1997 |
2014 |
Hecht syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Arthrogryposis, distal, type 2E
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ARTHROGRYPOSIS, DISTAL, TYPE 10
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Arthrogryposis-like hand anomaly and sensorineural deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
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
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
15
|
3
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Distal arthrogryposis type 5D
|
disease |
|
Disease or Syndrome
|
3
|
20
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ARTHROGRYPOSIS, DISTAL, TYPE 1B
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ulnar deviation of the hand or of fingers of the hand
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Tarsal Coalition
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Metatarsus Varus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Overlapping fingers
|
disease |
|
Acquired Abnormality
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Round ear
|
disease |
|
Anatomical Abnormality
|
10
|
4
|
0.100 |
None |
|
0 |
|
|
|