Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Micromelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
104
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Visceral angiomatosis
|
disease |
|
Disease or Syndrome
|
17
|
|
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 |
|
|
|
Pituitary Adenoma
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
170
|
11
|
0.100 |
None |
|
0 |
|
|
|
GLIOBLASTOMA MULTIFORME, SOMATIC
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Hemangiomatosis
|
disease |
Neoplasms; Cardiovascular Diseases
|
Neoplastic Process
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Precocious Puberty
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
139
|
20
|
0.100 |
None |
|
0 |
|
|
|
Goiter
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
142
|
19
|
0.100 |
None |
|
0 |
|
|
|
Skin Ulcer
|
phenotype |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
151
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 5.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Osteolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Biliary Tract Neoplasm
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
17
|
3
|
0.300 |
None |
|
0 |
|
|
|
Cranial nerve palsies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|