Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Human Phenotype Ontology

Grandparent Node:
Phenotypic abnormality (HP:0000118)

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Parent Node:
Abnormality of the nervous system (HP:0000707)

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..Starting node
..Abnormal nervous system physiology (HP:0012638)

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Term ID:	12638
Name:	Abnormal nervous system physiology
Synonym:	Abnormality of nervous system physiology
Definition:	A functional anomaly of the nervous system.
Comments:
Reference:	HP:0012638
Genes and Diseases:	There are 1300 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of taste sensation (HP:0000223) ................... HP:0000224 Decreased taste sensation ................... HP:0031249 Parageusia
........Behavioral abnormality (HP:0000708) ................... HP:0000613 Photophobia ................... HP:0000709 Psychosis ................... HP:0000710 Hyperorality ................... HP:0000711 Restlessness ................... HP:0000721 Lack of spontaneous play ................... HP:0000722 Obsessive-compulsive behavior ................... HP:0000729 Autistic behavior ................... HP:0000732 Inflexible adherence to routines or rituals ................... HP:0000736 Short attention span ................... HP:0000738 Hallucinations ................... HP:0000744 Low frustration tolerance ................... HP:0000746 Delusions ................... HP:0000751 Personality changes ................... HP:0000757 Lack of insight ................... HP:0002193 Pseudobulbar behavioral symptoms ................... HP:0002300 Mutism ................... HP:0002307 Drooling ................... HP:0002360 Sleep disturbance ................... HP:0010529 Echolalia ................... HP:0010865 Oppositional defiant disorder ................... HP:0012433 Abnormal social behavior ................... HP:0025112 Sound sensitivity ................... HP:0025160 Abnormal temper tantrums ................... HP:0025356 Pschomotor retardation ................... HP:0025479 Self-neglect ................... HP:0030223 Perseveration ................... HP:0030858 Addictive behavior ................... HP:0031466 Impairment in personality functioning ................... HP:0040202 Abnormal consumption behavior ................... HP:0100753 Schizophrenia ................... HP:0100754 Mania ................... HP:0100851 Abnormal emotion/affect behavior
........Seizures (HP:0001250) ................... HP:0002133 Status epilepticus ................... HP:0002197 Generalized seizures ................... HP:0002373 Febrile seizures ................... HP:0007359 Focal seizures ................... HP:0011097 Epileptic spasms ................... HP:0011145 Symptomatic seizures ................... HP:0011146 Dialeptic seizures ................... HP:0031165 Multifocal seizures
........Bulbar palsy (HP:0001283)
........Encephalopathy (HP:0001298) ................... HP:0002448 Progressive encephalopathy ................... HP:0002480 Hepatic encephalopathy ................... HP:0006789 Mitochondrial encephalopathy ................... HP:0006846 Acute encephalopathy ................... HP:0006929 Hypoglycemic encephalopathy ................... HP:0006976 Necrotizing encephalopathy ................... HP:0007030 Nonprogressive encephalopathy ................... HP:0007105 Infantile encephalopathy ................... HP:0007239 Congenital encephalopathy ................... HP:0007335 Recurrent encephalopathy ................... HP:0200134 Epileptic encephalopathy
........Abnormal nervous system electrophysiology (HP:0001311) ................... HP:0030177 Abnormality of peripheral nervous system electrophysiology ................... HP:0030178 Abnormality of central nervous system electrophysiology
........Dysphagia (HP:0002015) ................... HP:0002068 Neuromuscular dysphagia ................... HP:0007024 Pseudobulbar paralysis ................... HP:0031146 Impaired oral bolus formation ................... HP:0031162 Impaired oropharyngeal swallow response ................... HP:0200136 Oral-pharyngeal dysphagia
........Pseudobulbar signs (HP:0002200) ................... HP:0002193 Pseudobulbar behavioral symptoms ................... HP:0007024 Pseudobulbar paralysis
........Headache (HP:0002315) ................... HP:0002076 Migraine ................... HP:0002331 Recurrent paroxysmal headache ................... HP:0012199 Cluster headache ................... HP:0012228 Tension-type headache ................... HP:0012318 Occipital neuralgia ................... HP:0012459 Hypnic headache ................... HP:0030907 Thunderclap headache
........Bulbar signs (HP:0002483)
........Cataplexy (HP:0002524)
........Easy fatigability (HP:0003388)
........Hypocalcemic tetany (HP:0003472)
........Abnormality of the sense of smell (HP:0004408) ................... HP:0000458 Anosmia ................... HP:0004409 Hyposmia
........Abnormality of central motor function (HP:0011442) ................... HP:0000473 Torticollis ................... HP:0002063 Rigidity ................... HP:0002071 Abnormality of extrapyramidal motor function ................... HP:0002186 Apraxia ................... HP:0002493 Upper motor neuron dysfunction ................... HP:0003470 Paralysis ................... HP:0011398 Central hypotonia ................... HP:0011443 Abnormality of coordination ................... HP:0012079 Abnormality of central motor conduction ................... HP:0100021 Cerebral palsy
........Abnormality of higher mental function (HP:0011446) ................... HP:0002167 Neurological speech impairment ................... HP:0002186 Apraxia ................... HP:0002463 Language impairment ................... HP:0004372 Reduced consciousness/confusion ................... HP:0010524 Agnosia ................... HP:0031868 Optic ataxia ................... HP:0031908 Micrographia ................... HP:0100543 Cognitive impairment
........Abnormality of central sensory function (HP:0011730) ................... HP:0010527 Astereognosia ................... HP:0011810 Impaired two-point discrimination ................... HP:0011811 Impaired touch localization ................... HP:0011812 Agraphesthesia
........Abnormal hypothalamus physiology (HP:0012285) ................... HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency ................... HP:0008237 Hypothalamic hypothyroidism ................... HP:0012287 Hypothalamic luteinizing hormone-releasing hormone deficiency
........Abnormal synaptic transmission (HP:0012535) ................... HP:0030191 Abnormal peripheral nervous system synaptic transmission
........Abnormality of intracranial pressure (HP:0012640) ................... HP:0002516 Increased intracranial pressure ................... HP:0012641 Decreased intracranial pressure
........Abnormal brain positron emission tomography (HP:0012657) ................... HP:0012658 Abnormal brain FDG positron emission tomography
........Abnormality of pineal physiology (HP:0012688) ................... HP:0012689 Abnormal pineal melatonin secretion
........Abnormal metabolic brain imaging by MRS (HP:0012705) ................... HP:0012709 Abnormal brain choline/creatine ratio by MRS ................... HP:0025045 Abnormal brain lactate level by MRS ................... HP:0025047 Abnormal brain choline level by MRS ................... HP:0025049 Abnormal brain creatine level by MRS ................... HP:0025052 Abnormal brain N-acetyl aspartate level by MRS ................... HP:0025460 High myoinositol in brain by MRS ................... HP:0030980 Reduced brain glutamine level by MRS ................... HP:0031161 Reduced brain glutamate level by MRS ................... HP:0500021 Reduced brain gamma-aminobutyric acid level by MRS
........Neurodevelopmental abnormality (HP:0012759) ................... HP:0001249 Intellectual disability ................... HP:0001328 Specific learning disability ................... HP:0002376 Developmental regression ................... HP:0007281 Developmental stagnation ................... HP:0012758 Neurodevelopmental delay
........Abnormality of movement (HP:0100022) ................... HP:0000743 Frontal release signs ................... HP:0000752 Hyperactivity ................... HP:0001288 Gait disturbance ................... HP:0001332 Dystonia ................... HP:0001335 Bimanual synkinesia ................... HP:0002172 Postural instability ................... HP:0002374 Diminished movement ................... HP:0002411 Myokymia ................... HP:0002457 Abnormal head movements ................... HP:0002476 Primitive reflex ................... HP:0002487 Hyperkinesis ................... HP:0002533 Abnormal posturing ................... HP:0004305 Involuntary movements ................... HP:0010546 Muscle fibrillation ................... HP:0012164 Asterixis ................... HP:0020037 Astasia ................... HP:0025403 Stooped posture ................... HP:0031826 Abnormal reflex ................... HP:0100021 Cerebral palsy ................... HP:0100660 Dyskinesia
Sister Nodes:
..Abnormal nervous system morphology (HP:0012639)
..Abnormality of ganglion (HP:0410014)
..Abnormality of the peripheral nervous system (HP:0410008)
Genes (0) : Diseases (0) :
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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