Leri-Weill dyschondrosteosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
9
|
0.800 |
None |
0.962 |
78 |
9
|
1999 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.200 |
None |
1.000 |
69 |
1
|
1997 |
2019 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.100 |
None |
0.950 |
40 |
|
1997 |
2019 |
Langer Mesomelic Dysplasia Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
4
|
0.800 |
None |
0.958 |
24 |
3
|
2000 |
2019 |
Madelung Deformity
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
8
|
2
|
0.200 |
None |
1.000 |
19 |
1
|
2000 |
2018 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.090 |
None |
1.000 |
9 |
|
2002 |
2016 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.080 |
None |
1.000 |
8 |
|
1999 |
2019 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.080 |
None |
1.000 |
8 |
|
2002 |
2016 |
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.050 |
None |
1.000 |
5 |
|
2000 |
2010 |
Lowry Wood syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.050 |
None |
1.000 |
5 |
|
2000 |
2012 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.050 |
None |
1.000 |
5 |
|
2000 |
2010 |
Oestrogen deficiency
|
disease |
|
Disease or Syndrome
|
85
|
1
|
0.040 |
None |
1.000 |
4 |
|
2000 |
2008 |
Short Stature Homeobox Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2016 |
Trisomy X syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
12
|
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2014 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2002 |
Hypochondroplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
16
|
42
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2012 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.020 |
None |
0.500 |
2 |
|
2001 |
2008 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Osteosarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
2247
|
151
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Klinefelter's syndrome - male with more than two X chromosomes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
90
|
5
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2010 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2010 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2010 |
growth hormone treatment
|
disease |
|
Disease or Syndrome
|
20
|
1
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2015 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2017 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2012 |