Spondyloepiphyseal dysplasia, congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
30
|
1.000 |
None |
0.981 |
52 |
17
|
1989 |
2020 |
Achondrogenesis type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
14
|
1.000 |
None |
1.000 |
21 |
13
|
1988 |
2012 |
Stickler syndrome, type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
27
|
0.800 |
None |
0.968 |
62 |
23
|
1987 |
2019 |
Kniest dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
6
|
0.800 |
None |
1.000 |
20 |
6
|
1989 |
2017 |
Spondyloperipheral dysplasia short ulna
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
8
|
0.750 |
None |
1.000 |
9 |
8
|
1989 |
2013 |
Legg-Calve-Perthes Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
9
|
0.740 |
None |
1.000 |
6 |
6
|
2007 |
2014 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
4
|
0.730 |
None |
1.000 |
8 |
4
|
1989 |
2016 |
Strudwick syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
19
|
0.730 |
None |
1.000 |
8 |
8
|
1989 |
2017 |
Czech dysplasia, metatarsal type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
4
|
0.730 |
None |
1.000 |
7 |
4
|
1993 |
2016 |
Stickler Syndrome, Type I, Nonsyndromic Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
9
|
0.710 |
None |
1.000 |
9 |
9
|
1989 |
2018 |
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.710 |
moderate |
1.000 |
5 |
6
|
1991 |
2016 |
Namaqualand hip dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
4
|
0.700 |
None |
1.000 |
5 |
4
|
1990 |
2012 |
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
6
|
0.700 |
None |
1.000 |
4 |
6
|
1989 |
2012 |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
3 |
4
|
1998 |
2012 |
Hypochondrogenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
5
|
0.660 |
None |
1.000 |
9 |
4
|
1988 |
2003 |
Avascular Necrosis of Femur Head
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
74
|
20
|
0.650 |
None |
1.000 |
5 |
3
|
2005 |
2018 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.640 |
strong |
1.000 |
6 |
|
1991 |
2011 |
Otospondylomegaepiphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
5
|
0.610 |
None |
1.000 |
2 |
1
|
2005 |
2012 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.500 |
None |
0.941 |
68 |
5
|
1993 |
2020 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.500 |
None |
1.000 |
22 |
|
1989 |
2019 |
Femur Head Necrosis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
|
0.500 |
None |
1.000 |
1 |
|
2010 |
2010 |
Retinal Detachment
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
10
|
0.480 |
None |
1.000 |
8 |
|
1993 |
2018 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.440 |
None |
1.000 |
5 |
1
|
1993 |
2017 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.440 |
None |
1.000 |
5 |
1
|
2003 |
2011 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.420 |
None |
1.000 |
3 |
2
|
2007 |
2012 |