Age related macular degeneration
disease
Eye Diseases
Disease or Syndrome
685
663
0.100
None
0
Short neck
phenotype
Finding
288
29
0.100
None
0
Blue sclera
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Finding
70
13
0.100
None
0
Genu varum
phenotype
Musculoskeletal Diseases
Finding
60
6
0.100
None
0
Advanced bone age
phenotype
Finding
64
4
0.100
None
0
Genu recurvatum
disease
Anatomical Abnormality
32
4
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Choroidal Neovascularization
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases
Pathologic Function
31
3
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
Short phalanx of finger
phenotype
Finding
41
1
0.100
None
0
Lumbar hyperlordosis
disease
Musculoskeletal Diseases
Anatomical Abnormality
92
8
0.100
None
0
Drusen
disease
Disease or Syndrome
57
18
0.100
None
0
Renal Insufficiency
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
615
42
0.100
None
0
Respiratory distress
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
259
16
0.100
None
0
Delayed speech and language development
phenotype
Behavior and Behavior Mechanisms
Finding
560
192
0.100
None
0
Clinodactyly of fingers
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
160
7
0.100
None
0
Cushingoid facies
phenotype
Endocrine System Diseases
Sign or Symptom
6
1
0.100
None
0
Hyaline body
disease
Anatomical Abnormality
14
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Gronblad-Strandberg Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
3
0.300
None
0
Epiphyseal dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
27
0.100
None
0
Flexion contracture of proximal interphalangeal joint
phenotype
Finding
168
7
0.100
None
0
Long philtrum
phenotype
Finding
282
16
0.100
None
0
Peau d'orange surface of breast
phenotype
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Sign or Symptom
3
0.100
None
0