Human Phenotype Ontology


The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.

Gene: TNF

Cytoband position: 6p21.3

OMIM: 191160

RVIS score: -0.03

RVIS percentage: 51.40

Phenotype name HPO ID Alternative HPO ID Phenotype description
Abnormality of the digestive system HP:0025031 None None
Abnormality of the respiratory system HP:0002086 None An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Asthma HP:0002099 HP:0002112 Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Headache HP:0002315 HP:0001354 Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Abnormality of the immune system HP:0002715 HP:0010986 An abnormality of the immune system.
Abnormal respiratory system physiology HP:0002795 None None
Abnormality of digestive system physiology HP:0025032 None A functional anomaly of the digestive system.
Sound sensitivity HP:0025112 None Decreased tolerance to sound.
Abnormality of immune system physiology HP:0010978 None A functional abnormality of the immune system.
Abdominal symptom HP:0011458 None A subjective manifestation of disease localized to the abdomen.
Abnormal eye physiology HP:0012373 None A functional anomaly of the eye.
Abnormal nervous system physiology HP:0012638 None A functional anomaly of the nervous system.
Autosomal dominant inheritance HP:0000006 HP:0001463 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Abnormality of the eye HP:0000478 None Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Abnormality of vision HP:0000504 None Abnormality of eyesight (visual perception).
Photophobia HP:0000613 None Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Abnormality of the nervous system HP:0000707 HP:0006987 An abnormality of the nervous system.
Behavioral abnormality HP:0000708 HP:0002456 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Multifactorial inheritance HP:0001426 HP:0001472 A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Vomiting HP:0002013 None Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Nausea HP:0002018 None A sensation of unease in the stomach together with an urge to vomit.
Immunologic hypersensitivity HP:0100326 None Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.
Migraine HP:0002076 HP:0007194 Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Migraine without aura HP:0002083 None Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.
Phonophobia HP:0002183 None An abnormally heightened sensitivity to loud sounds.
Nausea and vomiting HP:0002017 None Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
Migraine with aura HP:0002077 None A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.