ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
17
|
0.950 |
None |
1.000 |
11 |
17
|
2004 |
2019 |
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
|
disease |
|
Disease or Syndrome
|
2
|
5
|
0.710 |
None |
1.000 |
7 |
5
|
2004 |
2019 |
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.600 |
strong |
1.000 |
2 |
6
|
2013 |
2014 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.400 |
None |
|
0 |
1
|
|
|
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
0.210 |
None |
1.000 |
3 |
|
1978 |
2012 |
Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1043
|
127
|
0.100 |
None |
0.968 |
31 |
|
2003 |
2020 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
0.947 |
19 |
1
|
2005 |
2019 |
Acromesomelic dysplasia Hunter-Thompson type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
1.000 |
11 |
|
2004 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
3 |
1
|
2004 |
2015 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
2
|
|
|
Tall stature
|
phenotype |
|
Finding
|
79
|
14
|
0.100 |
None |
|
0 |
|
|
|
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.100 |
None |
|
0 |
3
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
1
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Short phalanx of finger
|
phenotype |
|
Finding
|
41
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Short metatarsal
|
phenotype |
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Flared metaphysis
|
phenotype |
|
Finding
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Broad metatarsal
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Broad metacarpals
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
1
|
|
|