COENZYME Q10 DEFICIENCY, PRIMARY, 8
disease
Disease or Syndrome
1
1
0.700
None
1.000
3
1
2015
2018
Mitochondrial DNA mutation
disease
Congenital Abnormality
25
7
0.010
None
1.000
1
2
2017
2017
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Postnatal growth retardation
phenotype
Finding
121
11
0.100
None
0
Abnormal renal corticomedullary differentiation
phenotype
Anatomical Abnormality
1
0.100
None
0
Hypertensive disease
group
Cardiovascular Diseases
Disease or Syndrome
2322
1085
0.100
None
0
Renal dysplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Congenital Abnormality
95
3
0.100
None
0
Congenital hypoplasia of lung
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
Congenital Abnormality
175
6
0.100
None
0
Oligohydramnios
phenotype
Female Urogenital Diseases and Pregnancy Complications
Pathologic Function
129
21
0.100
None
0
Steroid-resistant nephrotic syndrome
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
73
25
0.010
None
1.000
1
2013
2013
Steroid resistant nephrotic syndrome of childhood
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
73
19
0.010
None
1.000
1
2013
2013
Motor delay
phenotype
Mental Disorders
Finding
384
34
0.100
None
0
Flexion contracture
disease
Musculoskeletal Diseases
Finding
210
32
0.100
None
0
Renal Cell Dysplasia
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
81
3
0.100
None
0
Neurodegenerative Disorders
group
Nervous System Diseases
Disease or Syndrome
1515
85
0.010
None
1.000
1
2009
2009
Polyneuropathy
disease
Nervous System Diseases
Disease or Syndrome
156
32
0.100
None
0
Peripheral demyelination
phenotype
Nervous System Diseases
Pathologic Function
27
3
0.100
None
0
Intracranial Aneurysm
disease
Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
311
150
0.010
None
1.000
1
2018
2018
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.100
None
0
Small for gestational age fetus
phenotype
Pathological Conditions, Signs and Symptoms
Finding
156
0.100
None
0
Left Ventricular Hypertrophy
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
403
67
0.300
None
1.000
1
2006
2006
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
Visual Impairment
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
422
0.100
None
0
Small for gestational age (disorder)
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
Finding
181
34
0.100
None
0