Abnormal mitochondria in muscle tissue
disease
Anatomical Abnormality
39
2
0.100
None
0
Acidosis, Lactic
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
209
21
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
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.100
None
0
Body Height
phenotype
Organism Attribute
1903
3972
0.100
None
1.000
1
1
2019
2019
Brain atrophy
disease
Nervous System Diseases
Disease or Syndrome
182
46
0.100
None
0
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.100
None
0
Decreased activity of mitochondrial complex I
phenotype
Finding
41
3
0.100
None
0
Diabetes Mellitus
group
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
2803
824
0.100
None
0
Disorder of the optic nerve
group
Eye Diseases; Nervous System Diseases
Disease or Syndrome
112
2
0.100
None
0
Encephalopathies
group
Nervous System Diseases
Disease or Syndrome
457
64
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
Fetal Distress
disease
Pathological Conditions, Signs and Symptoms
Pathologic Function
44
1
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
Focal T2 hyperintense brainstem lesion
phenotype
Finding
33
2
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Hepatomegaly
phenotype
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Finding
523
30
0.100
None
0
Hypertrophic Cardiomyopathy
disease
Cardiovascular Diseases
Disease or Syndrome
560
635
0.100
None
0
Hypoglycemia
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
420
42
0.100
None
0
Increased CSF lactate
phenotype
Finding
87
1
0.100
None
0
Increased serum lactate
phenotype
Nutritional and Metabolic Diseases
Finding
169
2
0.100
None
0