Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Orotic aciduria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Finding
|
6
|
2
|
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 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Argininosuccinic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
84
|
1.000 |
definitive |
1.000 |
47 |
84
|
1976 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
1993 |
1993 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Endotoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
401
|
5
|
0.200 |
None |
1.000 |
1 |
|
2000 |
2000 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.130 |
None |
1.000 |
3 |
1
|
2001 |
2018 |
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Urea Cycle Disorders, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hyperargininemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Acute hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Carbamoyl Phosphate Synthase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
112
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hyperoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
50
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.060 |
None |
1.000 |
6 |
|
2013 |
2020 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.050 |
None |
1.000 |
5 |
|
2013 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2018 |