Short long bone
phenotype
Finding
42
19
0.100
None
0
Flat occiput
phenotype
Finding
45
6
0.100
None
0
Rhizomelia
disease
Congenital Abnormality
57
6
0.100
None
0
Short ribs
phenotype
Finding
60
27
0.100
None
0
Lymphedema
disease
Hemic and Lymphatic Diseases
Pathologic Function
61
1
0.100
None
0
Advanced bone age
phenotype
Finding
64
4
0.100
None
0
Broad thumbs
phenotype
Finding
67
11
0.100
None
0
Blue sclera
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Finding
70
13
0.100
None
0
Chondrodysplasia
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
71
1
0.010
None
1.000
1
2017
2017
Large fontanelle
phenotype
Finding
77
3
0.100
None
0
Abnormality of epiphysis morphology
phenotype
Anatomical Abnormality
86
0.100
None
0
Tapering fingers (finding)
phenotype
Finding
91
19
0.100
None
0
Abnormality of the metaphysis
disease
Anatomical Abnormality
97
0.100
None
0
Micromelia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
104
1
0.100
None
0
Short palm
phenotype
Finding
110
13
0.100
None
0
Narrow thorax
phenotype
Finding
112
18
0.100
None
0
Short foot
phenotype
Finding
116
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Hypoplastic feet
phenotype
Finding
129
21
0.100
None
0
Somatotropin deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
Disease or Syndrome
154
14
0.010
None
1.000
1
2016
2016
Long narrow head
disease
Congenital Abnormality
154
26
0.100
None
0
Insulin Resistance
phenotype
Nutritional and Metabolic Diseases
Pathologic Function
162
53
0.200
None
1.000
2
2003
2007
Turner Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
Disease or Syndrome
162
21
0.010
None
1.000
1
2016
2016
Joint stiffness
phenotype
Musculoskeletal Diseases
Sign or Symptom
163
14
0.100
None
0
Malar flattening
disease
Anatomical Abnormality
190
12
0.100
None
0