Jansen type metaphyseal chondrodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
4
|
0.710 |
None |
1.000 |
7 |
4
|
1995 |
2017 |
Chondrodysplasia, blomstrand type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
3
|
0.710 |
None |
1.000 |
5 |
3
|
1996 |
2007 |
Eiken Skeletal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
1
|
0.710 |
None |
1.000 |
3 |
1
|
1998 |
2018 |
Failure of Tooth Eruption, Primary
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.700 |
None |
1.000 |
4 |
2
|
1998 |
2013 |
Enchondromatosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
2
|
0.650 |
None |
1.000 |
5 |
1
|
2002 |
2010 |
Hypercalcemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
157
|
9
|
0.340 |
None |
1.000 |
5 |
1
|
2005 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2018 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
2 |
|
2002 |
2008 |
Hyperparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
111
|
14
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Metaphyseal chondrodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.140 |
None |
1.000 |
4 |
1
|
2002 |
2019 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.110 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hypoparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
92
|
15
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Birth Weight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organism Attribute
|
214
|
369
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Metaphyseal cupping
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Protuberant abdomen
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal irregularity
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|