Human Phenotype Ontology

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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:
All (HP:0000001)

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Parent Node:
Phenotypic abnormality (HP:0000118)

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..Starting node
..Abnormality of the nervous system (HP:0000707)

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Term ID:	707
Name:	Abnormality of the nervous system
Synonym:	Abnormality of the nervous system; Brain and/or spinal cord issue; Neurologic abnormalities; Neurological abnormality
Definition:	An abnormality of the nervous system.
Comments:
Reference:	HP:0000707
Genes and Diseases:	There are 2372 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of nervous system physiology (HP:0012638) ................... HP:0000223 Abnormality of taste sensation ................... HP:0000708 Behavioral abnormality ................... HP:0001250 Seizures ................... HP:0001283 Bulbar palsy ................... HP:0001298 Encephalopathy ................... HP:0001311 Abnormal nervous system electrophysiology ................... HP:0002015 Dysphagia ................... HP:0002200 Pseudobulbar signs ................... HP:0002315 Headache ................... HP:0002483 Bulbar signs ................... HP:0002524 Cataplexy ................... HP:0003388 Easy fatigability ................... HP:0003472 Hypocalcemic tetany ................... HP:0004408 Abnormality of the sense of smell ................... HP:0011442 Abnormality of central motor function ................... HP:0011446 Abnormality of higher mental function ................... HP:0011730 Abnormality of central sensory function ................... HP:0012285 Abnormal hypothalamus physiology ................... HP:0012535 Abnormal synaptic transmission ................... HP:0012640 Abnormality of intracranial pressure ................... HP:0012657 Abnormal brain positron emission tomography ................... HP:0012688 Abnormality of pineal physiology ................... HP:0012705 Abnormal metabolic brain imaging by MRS ................... HP:0012759 Neurodevelopmental abnormality ................... HP:0100022 Abnormality of movement
........Abnormality of nervous system morphology (HP:0012639) ................... HP:0000759 Abnormal peripheral nervous system morphology ................... HP:0002011 Morphological abnormality of the central nervous system ................... HP:0004375 Neoplasm of the nervous system ................... HP:0012447 Abnormal myelination ................... HP:0012757 Abnormal neuron morphology
........Abnormality of the peripheral nervous system (HP:0410008) ................... HP:0002270 Abnormality of the autonomic nervous system ................... HP:0410009 Abnormality of the somatic nervous system
........Abnormality of ganglion (HP:0410014) ................... HP:0410015 Abnormality of ganglion of peripheral nervous system ................... HP:0410016 Abnormality of cranial ganglion
Sister Nodes:
..Abnormal cellular phenotype (HP:0025354)
..Abnormality of blood and blood-forming tissues (HP:0001871)
..Abnormality of connective tissue (HP:0003549)
..Abnormality of head or neck (HP:0000152)
..Abnormality of limbs (HP:0040064)
..Abnormality of metabolism/homeostasis (HP:0001939)
..Abnormality of prenatal development or birth (HP:0001197)
..Abnormality of the breast (HP:0000769)
..Abnormality of the cardiovascular system (HP:0001626)
..Abnormality of the digestive system (HP:0025031)
..Abnormality of the ear (HP:0000598)
..Abnormality of the endocrine system (HP:0000818)
..Abnormality of the eye (HP:0000478)
..Abnormality of the genitourinary system (HP:0000119)
..Abnormality of the immune system (HP:0002715)
..Abnormality of the integument (HP:0001574)
..Abnormality of the musculature (HP:0003011)
..Abnormality of the respiratory system (HP:0002086)
..Abnormality of the skeletal system (HP:0000924)
..Abnormality of the thoracic cavity (HP:0045027)
..Abnormality of the voice (HP:0001608)
..Constitutional symptom (HP:0025142)
..Growth abnormality (HP:0001507)
..Neoplasm (HP:0002664)
..obsolete Abnormal test result (HP:0500014)
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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