Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Central hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
16
|
1
|
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 |
|
|
|
Abnormality of temperature regulation
|
phenotype |
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Adducted thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|
Episodic hypertension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Pathologic Function
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Failure to thrive in infancy
|
phenotype |
|
Finding
|
97
|
12
|
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 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Positive regitine blocking test
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
122
|
78
|
0.100 |
None |
|
0 |
|
|
|
Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
302
|
18
|
0.100 |
None |
|
0 |
|
|
|
Hypoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Elevated urinary norepinephrine
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Intestinal Polyposis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aganglionosis, Rectosigmoid Colon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
2 |
|
1996 |
1996 |
Congenital Intestinal Aganglionosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
18
|
16
|
0.300 |
None |
1.000 |
2 |
|
1996 |
1996 |
Aganglionosis, Colonic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
36
|
11
|
0.300 |
None |
1.000 |
2 |
|
1996 |
1996 |
Solid Neoplasm
|
phenotype |
Neoplasms
|
Neoplastic Process
|
1145
|
24
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
23
|
98
|
0.300 |
limited |
1.000 |
1 |
|
1997 |
1997 |
Ewings sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
25
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |