Enlarged metacarpophalangeal joints
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Enlarged interphalangeal joints
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Enlargement of the proximal femoral epiphysis
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
skin irritant
|
phenotype |
|
Sign or Symptom
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Enlarged epiphyses
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Sclerotic vertebral endplates
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Pallister-Hall syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
39
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2012 |
Tuberculosis, Cutaneous
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormality of the knee
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Flattened epiphysis
|
phenotype |
|
Finding
|
11
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased cervical spine mobility
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Buruli Ulcer
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Metaplastic carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
14
|
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Greig cephalopolysyndactyly syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
14
|
19
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Spondyloepiphyseal dysplasia, congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
30
|
0.210 |
None |
1.000 |
3 |
|
2005 |
2015 |
FG syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
12
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Infection - suppurative
|
group |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
20
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Disorder of skeletal system
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
1
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2011 |
Dental Plaque
|
phenotype |
Stomatognathic Diseases
|
Disease or Syndrome
|
27
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Metaplastic carcinoma of breast
|
disease |
|
Neoplastic Process
|
31
|
|
0.220 |
None |
1.000 |
2 |
|
2017 |
2018 |
Joint swelling
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hip bone
|
disease |
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Metaphyseal widening
|
phenotype |
|
Finding
|
43
|
3
|
0.100 |
None |
|
0 |
|
|
|
Methylmalonic acidemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
35
|
0.100 |
None |
|
0 |
|
|
|