Soft skin
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Thin metacarpal cortices
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Compression fracture of vertebral column
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Rous Sarcoma
|
disease |
Neoplasms; Infections; Animal Diseases
|
Neoplastic Process; Experimental Model of Disease
|
60
|
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.040 |
None |
1.000 |
4 |
|
1988 |
2014 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.060 |
None |
1.000 |
6 |
|
1991 |
2019 |
Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
316
|
5
|
0.050 |
None |
1.000 |
5 |
|
1991 |
2006 |
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
90
|
91
|
0.520 |
strong |
1.000 |
4 |
|
1991 |
2018 |
Diastrophic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
63
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Morphea
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Localized scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
51
|
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Lobstein Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
13
|
257
|
0.300 |
None |
1.000 |
1 |
|
1991 |
1991 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.969 |
127 |
|
1992 |
2019 |
Bone neoplasms
|
group |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
151
|
4
|
0.020 |
None |
1.000 |
2 |
|
1992 |
2018 |