High forehead
phenotype
Finding
211
17
0.100
None
0
Low-set, posteriorly rotated ears
phenotype
Finding
223
19
0.100
None
0
Cerebellar Hypoplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
Congenital Abnormality
226
26
0.010
None
1.000
1
2013
2013
Hematuria
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
235
31
0.100
None
0
Mycosis Fungoides
group
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
251
8
0.010
None
1.000
1
2012
2012
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Weight decreased
phenotype
Pathological Conditions, Signs and Symptoms
Finding
271
3
0.100
None
0
Lymphadenopathy
phenotype
Hemic and Lymphatic Diseases
Disease or Syndrome
277
5
0.100
None
0
Aortic Aneurysm
disease
Cardiovascular Diseases
Disease or Syndrome
278
19
0.010
None
1.000
1
2019
2019
Germ cell tumor
disease
Neoplasms
Neoplastic Process
278
5
0.300
None
1.000
1
2017
2017
Muscular Dystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
280
67
0.100
None
0
Clinodactyly of the 5th finger
disease
Congenital Abnormality
284
39
0.100
None
0
Abdominal Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
302
18
0.100
None
0
Frontal bossing
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
321
22
0.100
None
0
Microphthalmos
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
337
40
0.100
None
0
Childhood Kidney Wilms Tumor
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
338
36
0.020
None
1.000
2
1
2017
2020
Aortic Valve Insufficiency
disease
Cardiovascular Diseases
Disease or Syndrome
377
8
0.100
None
0
Atrial Septal Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
384
96
0.100
None
0
Downward slant of palpebral fissure
phenotype
Finding
391
49
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Lymphatic Metastasis
disease
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
463
10
0.010
None
1.000
1
2019
2019
Rhabdomyosarcoma
disease
Neoplasms
Neoplastic Process
565
20
0.100
None
0
Nephroblastoma
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
586
125
0.620
None
1.000
2
1
2017
2020
Aortic Aneurysm, Abdominal
disease
Cardiovascular Diseases
Disease or Syndrome
586
90
0.010
None
1.000
1
2019
2019
Micrognathism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
586
53
0.100
None
0