ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
3 |
5
|
2005 |
2015 |
Chondrodysplasia, acromesomelic, with genital anomalies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
BRACHYDACTYLY, TYPE A1, D
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
1 |
3
|
2015 |
2015 |
Widened proximal tibial metaphyses
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of the proximal phalanges of the hand
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly syndrome type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Short proximal phalanx of thumb
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of the 2nd finger
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudoepiphyses of the 2nd finger
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of the middle phalanges of the toes
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the 1st metacarpal
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Stippling of the epiphysis of the distal phalanx of the thumb
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Short proximal phalanx of finger
|
phenotype |
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Medially deviated second toe
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Short 2nd metacarpal
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Complete duplication of distal phalanx of the thumb
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular shaped middle phalanx of the 2nd finger
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular shaped middle phalanx of the 5th finger
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Chondrodysplasia, Grebe type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
3
|
0.310 |
None |
1.000 |
2 |
1
|
2014 |
2015 |
Fibular hypoplasia and complex brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
4
|
0.400 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Terminal symphalangism of hands
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Acromesomelic dysplasia Hunter-Thompson type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
5
|
|
0.340 |
None |
1.000 |
4 |
|
2015 |
2018 |
SYMPHALANGISM, PROXIMAL, 1A
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
12
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the fibula
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|