| SURF1 |
220110 |
Musculoskeletal-diseases |
|
musculoskeletal |
#16225813 |
| SURF1 |
220110 |
Craniofacial-abnormalities |
|
musculoskeletal |
#16225813 |
| SURF1 |
220110 |
Microcephaly |
|
musculoskeletal |
16225813 |
| SURF1 |
220110 |
Digestive-system-diseases |
|
gastrointestinal |
#11955926 #14557577 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Gastrointestinal-diseases |
|
gastrointestinal |
#11955926 #15214016 #16222681 |
| SURF1 |
220110 |
Deglutition-disorders |
for liquids; delayed swallowing
|
gastrointestinal |
15214016 16222681 |
| SURF1 |
220110 |
Gastrointestinal-hemorrhage |
|
gastrointestinal |
#11955926 |
| SURF1 |
220110 |
Hematemesis |
episodes
|
gastrointestinal |
11955926 |
| SURF1 |
220110 |
Liver-diseases |
hepatic involvement
|
gastrointestinal |
14557577 |
| SURF1 |
220110 |
Feeding-difficulties |
|
gastrointestinal |
11955926 14557577 |
| SURF1 |
220110 |
Vomiting |
episodes; recurrent
|
gastrointestinal |
11955926 15214016 16225813 |
| SURF1 |
220110 |
Respiratory-tract-diseases |
|
respiratory |
#9837813 #10647889 #11955926 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Lung-diseases |
|
respiratory |
#9837813 #10647889 #15214016 #16225813 |
| SURF1 |
220110 |
Pulmonary-edema |
edema; pulmonary edema; congestion
|
respiratory |
9837813 10647889 15214016 16225813 |
| SURF1 |
220110 |
Respiration-disorders |
|
respiratory |
#9837813 #10647889 #11955926 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Hyperventilation |
episodes; hyperpnea; irregular hyperpnea; hyperpnoea
|
respiratory |
9837813 16222681 |
| SURF1 |
220110 |
Respiratory-insufficiency |
central abnormalities of ventilation; episodes of apnea; hypoventilation; sleep hypoventilation; apneic spells; respiratory failure; respiratory problems; cyanosis
|
respiratory |
9837813 10647889 11955926 15214016 16225813 |
| SURF1 |
220110 |
Nervous-system-diseases |
|
neurologic |
#9837813 #9843204 #10647889 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Central-nervous-system-diseases |
|
neurologic |
#9837813 #9843204 #10647889 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Brain-diseases |
|
neurologic |
#9837813 #9843204 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Brain-edema |
putamen; globus pallidus
|
neurologic |
16225813 |
| SURF1 |
220110 |
Encephalopathy |
encephalomalacia; encephalomyelopathy; Leigh like
|
neurologic |
9837813 10746561 11955926 14557577 16225813 16326995 |
| SURF1 |
220110 |
Cerebrovascular-disorders |
cerebellar artery infarction
|
neurologic |
16225813 |
| SURF1 |
220110 |
Seizures |
epilepsy
|
neurologic |
16222681 |
| SURF1 |
220110 |
Leukoencephalopathy |
leukodystrophy; corticospinal tract involvement; lenticular involvement; white matter abnormal
|
neurologic |
10746561 11409433 14557577 |
| SURF1 |
220110 |
Cerebral-gliosis |
gliosis
|
neurologic |
9843204 |
| SURF1 |
220110 |
Cerebellar-atrophy |
cerebellar atrophy
|
neurologic |
15214016 |
| SURF1 |
220110 |
Cerebral-necrosis |
|
neurologic |
9837813 9843204 10746561 |
| SURF1 |
220110 |
Electroencephalogram-abnormal |
poorly developed background activity
|
neurologic |
16225813 |
| SURF1 |
220110 |
Movement-disorders |
involuntary movements; incoordination
|
neurologic |
10647889 10746561 #14557577 15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Choreatic-disorders |
choreoathetosis; jerking; extremities
|
neurologic |
14557577 16225813 |
| SURF1 |
220110 |
Dystonic-disorders |
dystonic posturing; arms; legs; dystonia
|
neurologic |
10746561 14557577 16222681 |
| SURF1 |
220110 |
Tremor |
intentional tremor; limbs tremor
|
neurologic |
10647889 10746561 15214016 16222681 |
| SURF1 |
220110 |
Spinal-cord-diseases |
subacute necrotizing; encephalomyelopathy; Leigh like; medulla oblongata abnormal
|
neurologic |
9837813 9843204 10746561 14557577 16225813 16326995 |
| SURF1 |
220110 |
Neuronal-loss-and-lesions |
MRI findings; bilateral symmetric; signal intensity abnormalities; vascular proliferation; demyelination; cystic caviation; basal ganglia abnormal; brainstem abnormal; thalamus abnormal; spinal cord abnormal; cerebellum abnormal; putamen abnormal; white matter abnormal; cerebral peduncles abnormal; nucleus dentatus abnormal; pons abnormal
|
neurologic |
9837813 9843204 10647889 11955926 14557577 16222681 16225813 |
| SURF1 |
220110 |
Neurodegenerative-diseases |
neurodegenerative condition
|
neurologic |
9843204 |
| SURF1 |
220110 |
Neurologic-manifestations |
|
neurologic |
#9837813 #10647889 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Ataxia |
truncal; imbalance; dysmetria; progressive ataxia
|
neurologic |
9837813 10746561 14557577 15214016 16222681 16225813 |
| SURF1 |
220110 |
Gait-disorders |
loss of deambulation; unable to walk
|
neurologic |
10746561 16222681 |
| SURF1 |
220110 |
Neurobehavioral-manifestations |
|
neurologic |
#10746561 #16222681 #16225813 |
| SURF1 |
220110 |
Speech-disorders |
blurred speech
|
neurologic |
16222681 |
| SURF1 |
220110 |
Mental-retardation |
intellectual deterioration
|
neurologic |
10746561 16225813 |
| SURF1 |
220110 |
Developmental-delay |
psychomotor regression
|
neurologic |
9837813 10647889 10746561 11409433 11955926 15214016 16222681 16225813 |
| SURF1 |
220110 |
Irritability |
|
neurologic |
16225813 |
| SURF1 |
220110 |
Lethargy |
listless
|
neurologic |
16225813 |
| SURF1 |
220110 |
Neuromuscular-manifestations |
|
neurologic |
#9837813 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Muscle-spasticity |
spasticity; corticospinal tract involvement
|
neurologic |
11409433 16222681 |
| SURF1 |
220110 |
Muscle-hypotonia |
hypotonic
|
neurologic |
9837813 10746561 11955926 15214016 16222681 16225813 16326995 |
| SURF1 |
220110 |
Muscle-weakness |
|
neurologic |
14557577 15214016 16222681 16225813 |
| SURF1 |
220110 |
Muscular-atrophy |
type 1 fiber atrophy
|
neurologic |
10746561 14557577 16225813 |
| SURF1 |
220110 |
Reflexes-abnormal |
|
neurologic |
#9837813 #10647889 #10746561 #16225813 |
| SURF1 |
220110 |
Hyperreflexia |
brisk; deep tendon reflexes abnormal
|
neurologic |
9837813 16225813 |
| SURF1 |
220110 |
Hyporeflexia |
deep tendon reflexes
|
neurologic |
10647889 16225813 |
| SURF1 |
220110 |
Pyramidal-tract-signs |
extensor plantar response; babinski sign
|
neurologic |
10746561 16225813 |
| SURF1 |
220110 |
Hearing-disorders |
auditory evoked potential abnormal
|
neurologic |
10647889 10746561 |
| SURF1 |
220110 |
Peripheral-nervous-system-diseases |
|
neurologic |
#15214016 |
| SURF1 |
220110 |
Polyneuropathies |
peripheral neuropathy
|
neurologic |
15214016 |
| SURF1 |
220110 |
Eye-diseases |
|
ophthalmologic |
#9837813 #10647889 #10746561 #14557577 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Blepharoptosis |
ptosis
|
ophthalmologic |
16225813 |
| SURF1 |
220110 |
Ocular-motility-disorders |
|
ophthalmologic |
#9837813 #10647889 #10746561 #14557577 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Pathologic-nystagmus |
|
ophthalmologic |
14557577 15214016 16225813 |
| SURF1 |
220110 |
Ophthalmoplegia |
external ophthalmoplegia; ophthalmoparesis; slow saccades; irregular eye movements
|
ophthalmologic |
9837813 10647889 10746561 14557577 15214016 16222681 16225813 |
| SURF1 |
220110 |
Strabismus |
bilateral strabismus; internal
|
ophthalmologic |
10647889 16222681 |
| SURF1 |
220110 |
Optic-nerve-diseases |
optic atrophy
|
ophthalmologic |
15214016 16225813 |
| SURF1 |
220110 |
Vision-disorders |
visual evoked potential abnormal; decreased vision
|
ophthalmologic |
10647889 16222681 |
| SURF1 |
220110 |
Genitourinary-diseases |
|
genitourinary |
#10746561 #16225813 |
| SURF1 |
220110 |
Urologic-diseases |
|
genitourinary |
#10746561 #16225813 |
| SURF1 |
220110 |
Kidney-diseases |
|
genitourinary |
#10746561 #16225813 |
| SURF1 |
220110 |
Renal-insufficiency |
partial tubular dysfunction; De Toni Fanconi Debre syndrome
|
genitourinary |
10746561 16225813 |
| SURF1 |
220110 |
Cardiovascular-diseases |
|
cardiovascular |
#9837813 #10746561 #11955926 #16225813 #16326995 |
| SURF1 |
220110 |
Heart-diseases |
|
cardiovascular |
#10746561 #16225813 #16326995 |
| SURF1 |
220110 |
Cardiomyopathy |
myocardial depression; hypertrophic; decreased fractional shortening; EKG abnormal
|
cardiovascular |
10746561 16225813 16326995 |
| SURF1 |
220110 |
Cardiorespiratory-arrest |
sudden infant death
|
cardiovascular |
9837813 11955926 16225813 |
| SURF1 |
220110 |
Blood-circulation-disorder |
mottling and cold extremities
|
cardiovascular |
16225813 |
| SURF1 |
220110 |
Skin-diseases |
|
dermatologic |
#14557577 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Hair-diseases |
|
dermatologic |
#14557577 #15214016 #16222681 #16225813 |
| SURF1 |
220110 |
Hypertrichosis |
hirsute; forehead; extremities; hirsutism
|
dermatologic |
14557577 15214016 16222681 16225813 |
| SURF1 |
220110 |
Sweat-gland-diseases |
|
dermatologic |
#16222681 |
| SURF1 |
220110 |
Hyperhidrosis |
generalized hyperhidrosis
|
dermatologic |
16222681 |
| SURF1 |
220110 |
Metabolic-diseases |
|
metabolic |
#9837813 #10647889 #10746561 #11409433 #11955926 #14557577 #15214016 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Acid-base-imbalance |
|
metabolic |
#9837813 #10647889 #10746561 #11409433 #11955926 #14557577 #16222681 #16225813 |
| SURF1 |
220110 |
Acidosis |
ketosis; lactic acidosis; CSF; blood; metabolic acidosis; hyperlactacidemia
|
metabolic |
9837813 10647889 10746561 11409433 11955926 14557577 16222681 16225813 |
| SURF1 |
220110 |
Aminoacid-levels-abnormal |
alanine elevated
|
metabolic |
11955926 16326995 |
| SURF1 |
220110 |
Aminoaciduria |
alanine
|
metabolic |
16222681 |
| SURF1 |
220110 |
Water-electrolyte-imbalance |
|
metabolic |
#10746561 #16225813 |
| SURF1 |
220110 |
Dehydration |
|
metabolic |
16225813 |
| SURF1 |
220110 |
Hypokalemia |
potassium levels decreased
|
metabolic |
10746561 |
| SURF1 |
220110 |
Organic-acids-abnormal |
elevated tricarboxylic acid cycle intermediates; 2 oxoglutaric aciduria; glutaric aciduria; 2 hydroxyglutaric aciduria
|
metabolic |
15214016 |
| SURF1 |
220110 |
Glutaric-aciduria |
glutaric aciduria; 2 hydroxyglutaric aciduria
|
metabolic |
15214016 |
| SURF1 |
220110 |
TCA-intermediates-elevated |
elevated tricarboxylic acid cycle intermediates; 2 oxoglutaric aciduria
|
metabolic |
15214016 |
| SURF1 |
220110 |
Endocrine-system-diseases |
|
endocrinologic |
#16222681 |
| SURF1 |
220110 |
Gonadal-disorders |
|
endocrinologic |
#16222681 |
| SURF1 |
220110 |
Sex-differentiation-disorders |
|
endocrinologic |
#16222681 |
| SURF1 |
220110 |
Hyperandrogenism |
testosteron elevated; hydroxyprogesterone elevated
|
endocrinologic |
16222681 |
| SURF1 |
220110 |
Immune-system-diseases |
|
immunologic |
#14557577 #16222681 #16225813 |
| SURF1 |
220110 |
Infections |
bronchitis; pneumonia; viral infections; recurrent; frequent infections; airway infections
|
immunologic |
14557577 16222681 16225813 |
| SURF1 |
220110 |
Body-temperature-changes |
|
miscellaneous |
#11955926 #16222681 |
| SURF1 |
220110 |
Fever |
febrile illness
|
miscellaneous |
11955926 16222681 |
| SURF1 |
220110 |
Exercise-intolerance |
|
miscellaneous |
15214016 |
| SURF1 |
220110 |
Growth-disorders |
|
miscellaneous |
#10746561 #11409433 #11955926 #14557577 #16222681 #16225813 #16326995 |
| SURF1 |
220110 |
Failure-to-thrive |
|
miscellaneous |
11409433 11955926 16222681 16225813 16326995 |
| SURF1 |
220110 |
Growth-deficiency |
short stature; growth retardation
|
miscellaneous |
10746561 14557577 16222681 |
| SURF1 |
220110 |
Dysmorphism-and-abnormalities |
head shape; prominent occiput; narrow skull; high arched palate
|
miscellaneous |
15214016 16222681 |
| SURF1 |
220110 |
Mitochondria-abnormal |
Ragged red fibers; lipid droplets
|
miscellaneous |
10746561 16225813 |
| SURF1 |
220110 |
RCCIV-deficiency |
muscle; fibroblasts
|
miscellaneous |
9837813 9843204 10647889 11409433 11955926 14557577 15214016 16222681 16225813 |
