| ABCD1 |
300100 |
Digestive-system-diseases |
|
gastrointestinal |
#10426149 #11204280 #16672758 |
| ABCD1 |
300100 |
Gastrointestinal-diseases |
|
gastrointestinal |
#11204280 |
| ABCD1 |
300100 |
Deglutition-disorders |
dysphagia
|
gastrointestinal |
11204280 |
| ABCD1 |
300100 |
Abdominal-pain |
episodes
|
gastrointestinal |
16672758 |
| ABCD1 |
300100 |
Vomiting |
frequent vomiting
|
gastrointestinal |
10426149 |
| ABCD1 |
300100 |
Respiratory-tract-diseases |
|
respiratory |
#9702690 |
| ABCD1 |
300100 |
Lung-diseases |
|
respiratory |
#9702690 |
| ABCD1 |
300100 |
Pneumonia |
recurrent
|
respiratory |
9702690 |
| ABCD1 |
300100 |
Nervous-system-diseases |
|
neurologic |
#961799 #7849723 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758 |
| ABCD1 |
300100 |
Central-nervous-system-diseases |
|
neurologic |
#961799 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758 |
| ABCD1 |
300100 |
Brain-diseases |
|
neurologic |
#961799 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758 |
| ABCD1 |
300100 |
Cerebrovascular-disorders |
PET findings; positron emission tomography; reductions of regional cerebral blood flow; cerebral blood flow abnormal
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Seizures |
nonfebrile seizures; convulsions; epilepsy; generalized epileptic seizures
|
neurologic |
9702690 10980309 11204280 16380594 |
| ABCD1 |
300100 |
Leukoencephalopathy |
adrenoleukodystrophy; leukodystrophy; white matter demyelination; white matter degeneration; inflammatory myelinopathy; myelinopathy
|
neurologic |
961799 9702690 10369742 10426149 10980309 11204280 11438993 11810273 12210797 14586615 15564782 16130276 16672758 |
| ABCD1 |
300100 |
Cerebellar-atrophy |
pons atrophy; cerebellum atrophy; cerebellar atrophy; cerebellar hemispheres abnormal
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Cerebral-atrophy |
brain stem abnormal; parietooccipital atrophy
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Cerebral-necrosis |
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Electroencephalogram-abnormal |
irregular slow waves; predominant in bilateral temporal areas; polyspikes; slow wave complexes
|
neurologic |
9702690 10980309 |
| ABCD1 |
300100 |
Movement-disorders |
|
neurologic |
#9702690 #10426149 |
| ABCD1 |
300100 |
Dystonic-disorders |
dystonic posturing
|
neurologic |
10426149 |
| ABCD1 |
300100 |
Dyskinesias |
hypokinesia
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Spinal-cord-diseases |
adrenomyeloneuropathy; myelopathy; altered spinal cord; distal axonopathy; thoracic cord atrophy; cervical cord atrophy
|
neurologic |
9702690 10426149 11438993 11739809 11810273 15564782 16672758 |
| ABCD1 |
300100 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; white matter abnormal; cerebral peduncles abnormal; cerebellar hemispheres abnormal; internal capsule abnormal; demyelination; periventricular white matter abnormal
|
neurologic |
9702690 10369742 10426149 10980309 12210797 14586615 16672758 |
| ABCD1 |
300100 |
Neurodegenerative-diseases |
olivopontocerebellar degenerations; neurodegeneration
|
neurologic |
9702690 11438993 11810273 15564782 |
| ABCD1 |
300100 |
Axonal-degeneration |
axonopathy; distal axonopathy
|
neurologic |
11739809 16672758 |
| ABCD1 |
300100 |
Neurologic-manifestations |
|
neurologic |
#7849723 #9702690 #10369742 #10426149 #10980309 #11204280 #11739809 #11810273 #14586615 #15564782 #16380594 #16672758 |
| ABCD1 |
300100 |
Neurogenic-bladder |
bladder sphincter disturbance
|
neurologic |
9702690 10980309 |
| ABCD1 |
300100 |
Ataxia |
limb; truncal; spastic ataxic gait
|
neurologic |
10980309 11204280 |
| ABCD1 |
300100 |
Myoclonus |
ankle clonus; progressive
|
neurologic |
11739809 16672758 |
| ABCD1 |
300100 |
Gait-disorders |
gait abnormalities; frequent falls; unsteady gait; walking difficulties; gait disturbance; stumbling; tripping
|
neurologic |
9702690 10980309 11739809 11810273 15564782 16672758 |
| ABCD1 |
300100 |
Neurobehavioral-manifestations |
|
neurologic |
#9702690 #10369742 #10426149 #11204280 #14586615 #16380594 #16672758 |
| ABCD1 |
300100 |
Speech-disorders |
|
neurologic |
#9702690 #10426149 #11204280 |
| ABCD1 |
300100 |
Aphasia |
|
neurologic |
11204280 |
| ABCD1 |
300100 |
Dysarthria |
slurred speech; dysarthria; anarthria
|
neurologic |
9702690 10426149 |
| ABCD1 |
300100 |
Consciousness-disorders |
somnolence; vegetative state
|
neurologic |
9702690 16672758 |
| ABCD1 |
300100 |
Memory-disorders |
forgetfulness; carelessness; memory abnormal; personality change
|
neurologic |
9702690 14586615 |
| ABCD1 |
300100 |
Developmental-delay |
speech delay; language delay; neuropsychological delay
|
neurologic |
10426149 16672758 |
| ABCD1 |
300100 |
Apraxias |
increasing dyspraxia; dyspraxia
|
neurologic |
16672758 |
| ABCD1 |
300100 |
Psychomotor-agitation |
ADHD; attention deficit; inattention; emotional liability; hyperactivity; misdiagnosed as ADHD
|
neurologic |
10369742 16380594 |
| ABCD1 |
300100 |
Irritability |
irritable
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Neuromuscular-manifestations |
|
neurologic |
#7849723 #10426149 #10980309 #11739809 #11810273 #15564782 #16672758 |
| ABCD1 |
300100 |
Muscle-spasticity |
spastic paraplegia; spastic paraparesis; leg spasticity
|
neurologic |
7849723 10426149 10980309 11739809 11810273 15564782 16672758 |
| ABCD1 |
300100 |
Muscle-weakness |
leg weakness
|
neurologic |
10426149 10980309 11739809 11810273 16672758 |
| ABCD1 |
300100 |
Muscle-aching-and-stiffness |
muscle pain; exercise triggered; stiffness; felt stiff
|
neurologic |
16672758 |
| ABCD1 |
300100 |
Paralysis-Paresis |
spastic paraplegia; spastic paraparesis; progressive paraparesis; spastic diplegia; tetraparesis; tetraplegic
|
neurologic |
7849723 10369742 10426149 11739809 11810273 15564782 16672758 |
| ABCD1 |
300100 |
Reflexes-abnormal |
|
neurologic |
#9702690 #10369742 #10426149 #10980309 #11204280 #11739809 #15564782 #16672758 |
| ABCD1 |
300100 |
Hyperreflexia |
increased deep tendon reflexes; female carriers; jaw hyperreflexia; arm hyperreflexia
|
neurologic |
9702690 10426149 10980309 11204280 11739809 15564782 16672758 |
| ABCD1 |
300100 |
Pyramidal-tract-signs |
extensor plantar response; babinski sign
|
neurologic |
9702690 10369742 10426149 10980309 11739809 15564782 |
| ABCD1 |
300100 |
Hearing-disorders |
hearing loss; cognitive; auditory disturbance; hearing impairment
|
neurologic |
9702690 10369742 10980309 11204280 |
| ABCD1 |
300100 |
Tinnitus |
|
neurologic |
9702690 |
| ABCD1 |
300100 |
Peripheral-nervous-system-diseases |
|
neurologic |
#7849723 #10980309 #11739809 #16672758 |
| ABCD1 |
300100 |
Polyneuropathies |
peripheral neuropathy; touch sensation reduced; pinprick sensation reduced; demyelinating motor neuropathy; paraesthesiae
|
neurologic |
7849723 11739809 16672758 |
| ABCD1 |
300100 |
Proprioception-impaired |
reduced sensation to vibration
|
neurologic |
7849723 10980309 11739809 16672758 |
| ABCD1 |
300100 |
Eye-diseases |
|
ophthalmologic |
#961799 #3561956 #9702690 #10369742 #10426149 #10980309 #11204280 #16380594 #16672758 |
| ABCD1 |
300100 |
Ocular-motility-disorders |
|
ophthalmologic |
#3561956 #9702690 #10980309 #16672758 |
| ABCD1 |
300100 |
Pathologic-nystagmus |
vertical nystagmus; nystagmoid movement
|
ophthalmologic |
9702690 10980309 |
| ABCD1 |
300100 |
Strabismus |
exotropia; esotropia; squint; convergent squint
|
ophthalmologic |
3561956 10980309 16672758 |
| ABCD1 |
300100 |
Optic-nerve-diseases |
optic nerve hypoplasia; optic pallor
|
ophthalmologic |
961799 3561956 |
| ABCD1 |
300100 |
Retinal-diseases |
pigmentary changes; retinal ganglion cell degeneration
|
ophthalmologic |
3561956 |
| ABCD1 |
300100 |
Vision-disorders |
blindness; cortical blindness; loss of vision; hemianopsia; visual disturbances; visual loss; blind
|
ophthalmologic |
961799 3561956 9702690 10369742 10426149 10980309 11204280 16380594 |
| ABCD1 |
300100 |
Diplopia |
double vision
|
ophthalmologic |
10980309 |
| ABCD1 |
300100 |
Genitourinary-diseases |
|
genitourinary |
#9702690 #10426149 #10980309 #11204280 #11739809 #14586615 #16672758 |
| ABCD1 |
300100 |
Male-genital-diseases |
|
genitourinary |
#9702690 #10980309 |
| ABCD1 |
300100 |
Infertility-male |
male infertility; impotence
|
genitourinary |
9702690 10980309 |
| ABCD1 |
300100 |
Urologic-diseases |
|
genitourinary |
#10426149 #10980309 #11204280 #11739809 #14586615 #16672758 |
| ABCD1 |
300100 |
Kidney-diseases |
|
genitourinary |
#16672758 |
| ABCD1 |
300100 |
Creatinine-levels-abnormal |
elevated
|
genitourinary |
16672758 |
| ABCD1 |
300100 |
Urination-disorders |
episodic incontinence; urinary incontinence; urinary urgency; urinary retention; sphincter incontinence; urinary hesitancy
|
genitourinary |
10426149 10980309 11204280 11739809 14586615 16672758 |
| ABCD1 |
300100 |
Cardiovascular-diseases |
|
cardiovascular |
#9702690 #16672758 |
| ABCD1 |
300100 |
Cardiorespiratory-arrest |
respiratory failure
|
cardiovascular |
9702690 |
| ABCD1 |
300100 |
Vascular-diseases |
|
cardiovascular |
#16672758 |
| ABCD1 |
300100 |
Hypotension |
unrecordable blood pressure
|
cardiovascular |
16672758 |
| ABCD1 |
300100 |
Hematologic-diseases |
|
hematologic |
#16672758 |
| ABCD1 |
300100 |
Leukocyte-disorders |
|
hematologic |
#16672758 |
| ABCD1 |
300100 |
Leukocytosis |
|
hematologic |
16672758 |
| ABCD1 |
300100 |
Skin-diseases |
|
dermatologic |
#9702690 #10369742 #10426149 #15564782 #16130276 |
| ABCD1 |
300100 |
Gynecomastia |
|
dermatologic |
16130276 |
| ABCD1 |
300100 |
Hair-diseases |
|
dermatologic |
#16130276 |
| ABCD1 |
300100 |
Hypotrichosis |
hair abnormalities
|
dermatologic |
16130276 |
| ABCD1 |
300100 |
Pigmentation-disorders |
|
dermatologic |
#9702690 #10369742 #10426149 #15564782 |
| ABCD1 |
300100 |
Hyperpigmentation |
progressive pigmentation; lips; buccal mucosa; palmar creases; nipples
|
dermatologic |
9702690 10369742 10426149 15564782 |
| ABCD1 |
300100 |
Metabolic-diseases |
|
metabolic |
#7849723 #9702690 #10369742 #10426149 #10980309 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16672758 |
| ABCD1 |
300100 |
Water-electrolyte-imbalance |
|
metabolic |
#16672758 |
| ABCD1 |
300100 |
Hyponatremia |
sodium levels decreased
|
metabolic |
16672758 |
| ABCD1 |
300100 |
Fatty-acids-abnormal |
very long chain fatty acids elevated
|
metabolic |
7849723 9702690 10369742 10426149 10980309 11438993 11739809 11810273 12210797 14586615 15564782 16672758 |
| ABCD1 |
300100 |
Endocrine-system-diseases |
|
endocrinologic |
#961799 #3561956 #7849723 #10369742 #10426149 #10980309 #11204280 #11438993 #11810273 #14586615 #15564782 #16130276 #16672758 |
| ABCD1 |
300100 |
Adrenal-gland-diseases |
|
endocrinologic |
#961799 #3561956 #7849723 #10369742 #10426149 #11204280 #11438993 #11810273 #14586615 #15564782 #16130276 #16672758 |
| ABCD1 |
300100 |
Adrenal-insufficiency |
primary adrenal insufficiency; adrenal atrophy; adrenocortical insufficiency; Addisons disease; adrenal failure; atrophied adrenal glands
|
endocrinologic |
961799 3561956 7849723 10369742 10426149 #11204280 11438993 11810273 14586615 15564782 16130276 16672758 |
| ABCD1 |
300100 |
Hypocortisolism |
low serum cortisol
|
endocrinologic |
961799 10426149 11204280 15564782 16672758 |
| ABCD1 |
300100 |
Gonadal-disorders |
|
endocrinologic |
#10426149 #16130276 |
| ABCD1 |
300100 |
Hypogonadism |
hypogonadism; genital defects
|
endocrinologic |
16130276 |
| ABCD1 |
300100 |
Puberty-delayed |
delayed puberty
|
endocrinologic |
10426149 |
| ABCD1 |
300100 |
Hypoandrogenism |
plasma testosterone levels decreased; low normal
|
endocrinologic |
16130276 |
| ABCD1 |
300100 |
Pituitary-diseases |
|
endocrinologic |
#10426149 #10980309 #15564782 |
| ABCD1 |
300100 |
Hyperpituitarism |
corticotropin levels abnormal; ACTH elevated
|
endocrinologic |
10426149 10980309 15564782 |
| ABCD1 |
300100 |
Psychiatric-disorders |
|
psychiatric |
#9702690 #10369742 #10980309 #12210797 #14586615 #16380594 #16672758 |
| ABCD1 |
300100 |
Behavioral-symptoms |
mnesic and behavioural symptoms; behavioural disturbances; behavioral problems; behavioral changes; clockwatching; apathy; abnormal behavior
|
psychiatric |
10369742 10980309 12210797 14586615 16672758 |
| ABCD1 |
300100 |
Aggression |
verbal aggression
|
psychiatric |
14586615 |
| ABCD1 |
300100 |
Feeding-behavior |
predilection for sweet foods
|
psychiatric |
14586615 |
| ABCD1 |
300100 |
Mental-disorders |
|
psychiatric |
#9702690 #10369742 #10980309 #12210797 #14586615 #16380594 #16672758 |
| ABCD1 |
300100 |
Anxiety-disorders |
separation anxiety; oversensitivity to noises; school phobia
|
psychiatric |
12210797 |
| ABCD1 |
300100 |
Dementia |
short time; memory loss; cognitive decline; frontotemporal lobar dementia; mental impairment; mental deterioration
|
psychiatric |
9702690 10369742 10980309 14586615 16672758 |
| ABCD1 |
300100 |
Mood-disorders |
|
psychiatric |
#9702690 |
| ABCD1 |
300100 |
Depressive-disorder |
depression
|
psychiatric |
9702690 |
| ABCD1 |
300100 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#16380594 |
| ABCD1 |
300100 |
Psychotic-disorders |
psychosis; psychoses; psychological disorder; misdiagnosed as psychosis
|
psychiatric |
16380594 |
| ABCD1 |
300100 |
Schizophrenia |
misdiagnosed as schizophrenia
|
psychiatric |
16380594 |
| ABCD1 |
300100 |
Body-temperature-changes |
|
miscellaneous |
#10426149 #15564782 |
| ABCD1 |
300100 |
Fever |
episodes; febrile illness
|
miscellaneous |
10426149 15564782 |
