Diastrophic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
63
|
0.900 |
None |
1.000 |
56 |
50
|
1992 |
2019 |
Achondrogenesis, type IB (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
34
|
0.790 |
None |
1.000 |
27 |
34
|
1996 |
2015 |
Atelosteogenesis type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
34
|
0.780 |
None |
1.000 |
27 |
34
|
1996 |
2019 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
57
|
0.740 |
None |
1.000 |
27 |
57
|
1994 |
2018 |
De La Chapelle Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
3
|
0.620 |
strong |
1.000 |
3 |
3
|
1997 |
2015 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.500 |
strong |
1.000 |
12 |
2
|
2001 |
2019 |
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.400 |
None |
1.000 |
1 |
|
2008 |
2008 |
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.400 |
strong |
|
0 |
1
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.400 |
None |
|
0 |
|
|
|
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Ear Diseases
|
group |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.120 |
None |
1.000 |
13 |
10
|
1996 |
2012 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.120 |
None |
1.000 |
2 |
|
2005 |
2015 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.110 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.110 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.100 |
None |
1.000 |
12 |
|
1996 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
6 |
1
|
1996 |
2010 |
Short middle phalanx of finger
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Irregular epiphyses
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Abnormal form of the vertebral bodies
|
phenotype |
|
Finding
|
89
|
|
0.100 |
None |
|
0 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|