Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Ethylmalonic aciduria
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.100 |
None |
|
0 |
|
|
|
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Leukoaraiosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
72
|
24
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.010 |
None |
< 0.001 |
1 |
|
2005 |
2005 |
Deficiency of butyryl-CoA dehydrogenase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
21
|
47
|
1.000 |
definitive |
1.000 |
51 |
43
|
1989 |
2018 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.310 |
None |
1.000 |
2 |
|
2018 |
2019 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.310 |
None |
1.000 |
2 |
|
2018 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
2 |
3
|
2010 |
2013 |
Failure to thrive in infant
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
81
|
4
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Acute Coronary Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
440
|
139
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
cardiac symptom
|
phenotype |
|
Sign or Symptom
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |