Short stature
phenotype
Finding
1127
292
0.100
None
0
Subaortic stenosis
disease
Cardiovascular Diseases
Disease or Syndrome
19
2
0.100
None
0
Weight decreased
phenotype
Pathological Conditions, Signs and Symptoms
Finding
271
3
0.100
None
0
Short Stature, CTCAE
phenotype
Finding
1010
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Triangular face
phenotype
Finding
111
16
0.100
None
0
Depressed nasal ridge
phenotype
Finding
117
1
0.100
None
0
Duodenal atresia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Congenital Abnormality
39
2
0.100
None
0
Clinodactyly of the 5th finger
disease
Congenital Abnormality
284
39
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Micrognathism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
586
53
0.100
None
0
Liver neoplasms
group
Digestive System Diseases; Neoplasms
Neoplastic Process
1424
7
0.100
None
0
×
CUI:
C0015967
Disease:
Fever
Fever
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1021
66
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
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
Dandy-Walker Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
137
9
0.100
None
0
Corneal Opacity
phenotype
Eye Diseases
Finding
113
5
0.100
None
0
Aortic coarctation
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
88
6
0.100
None
0
Aortic Valve Insufficiency
disease
Cardiovascular Diseases
Disease or Syndrome
377
8
0.100
None
0
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.100
None
0
Cleft Palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
611
158
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Premature chromatid separation
phenotype
Cell or Molecular Dysfunction
3
0.100
None
0
Malignant tumor of colon
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
2969
688
0.100
None
0
Ascites
phenotype
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
198
7
0.100
None
0