Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Skin callus
|
disease |
Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
154
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperocclusion
|
phenotype |
Stomatognathic Diseases
|
Anatomical Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Spinal canal stenosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal trabecular bone morphology
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudo-fractures
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of renal excretion
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Dentinogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
35
|
7
|
0.040 |
None |
0.500 |
4 |
|
1995 |
2010 |
Congenital premature fusion
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
BRACHYDACTYLY, TYPE A2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
6
|
8
|
0.300 |
None |
|
0 |
|
|
|
Brachydactyly type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
8
|
0.300 |
None |
|
0 |
|
|
|
Acromesomelic dysplasia Hunter-Thompson type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
|
0 |
|
|
|
Autosomal recessive hypophosphatemic vitamin D refractory rickets
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
2
|
0.800 |
None |
1.000 |
15 |
1
|
2006 |
2020 |
Familial Hypophosphatemic Rickets
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
43
|
15
|
0.100 |
None |
1.000 |
10 |
|
2007 |
2020 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.060 |
None |
1.000 |
6 |
|
2016 |
2019 |
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.160 |
None |
0.833 |
6 |
|
2007 |
2020 |
Hypophosphatemic Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
6
|
0.160 |
None |
1.000 |
6 |
1
|
2007 |
2020 |
Vitamin D-Resistant Rickets, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
48
|
3
|
0.060 |
None |
1.000 |
6 |
|
2009 |
2020 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.150 |
None |
1.000 |
5 |
|
2006 |
2014 |
Osteomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
31
|
1
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2017 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.040 |
None |
1.000 |
4 |
|
2019 |
2019 |
Rickets, X-Linked Hypophosphatemic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
1
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2020 |
Adult Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
47
|
|
0.140 |
None |
1.000 |
4 |
|
2006 |
2017 |