| HPO |
HP:0000696 |
Delayed eruption of permanent teeth |
"Delayed tooth eruption affecting the secondary dentition." [HPO:ibailleulforestier] |
— |
HP:0000684 |
| HPO |
HP:0000698 |
Conical tooth |
"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [HPO:ibailleulforestier, PMID:31468724] |
A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. |
HP:0006482 |
| HPO |
HP:0000699 |
Diastema |
"Increased space between two adjacent teeth in the same dental arch." [PMID:19125428] |
Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. |
HP:0000692 |
| HPO |
HP:0000700 |
Periapical bone loss |
"Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [HPO:ibailleulforestier] |
Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. |
HP:0000164 |
| HPO |
HP:0000703 |
Dentinogenesis imperfecta |
"Developmental dysplasia of dentin." [HPO:ibailleulforestier] |
This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. |
HP:0010299, HP:3000050 |
| HPO |
HP:0000704 |
Periodontitis |
"Inflammation of the periodontium." [HPO:ibailleulforestier] |
— |
HP:0000164, HP:0000168, HP:0012649 |
| HPO |
HP:0000705 |
Amelogenesis imperfecta |
"A developmental dysplasia of the dental enamel." [HPO:ibailleulforestier, PMID:18499550] |
Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. |
HP:0000682 |
| HPO |
HP:0000706 |
Eruption failure |
"A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential." [HPO:ibailleulforestier, PMID:31468724] |
Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations. |
HP:0006292 |
| HPO |
HP:0000707 |
Abnormality of the nervous system |
"An abnormality of the nervous system." [HPO:probinson] |
The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. |
HP:0000118 |
| HPO |
HP:0000708 |
Behavioral abnormality |
"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson] |
— |
HP:0012638 |
| HPO |
HP:0000709 |
Psychosis |
"A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0000710 |
Hyperorality |
"A tendency or compulsion to examine objects by mouth." [HPO:sdoelken] |
— |
HP:0000708 |
| HPO |
HP:0000711 |
Restlessness |
"A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress." [PMID:28332736] |
— |
HP:0000708 |
| HPO |
HP:0000712 |
Emotional lability |
"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances." [PMID:23902698] |
— |
HP:0031466, HP:0100851 |
| HPO |
HP:0000713 |
Agitation |
"A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension." [PMID:29630205] |
— |
HP:0000711 |
| HPO |
HP:0000716 |
Depression |
"Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior." [HPO:probinson, PMID:23902698] |
— |
HP:0031466 |
| HPO |
HP:0000717 |
Autism |
"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DDD:hvfirth] |
The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. |
HP:0000729 |
| HPO |
HP:0000718 |
Aggressive behavior |
"Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
— |
HP:0006919 |
| HPO |
HP:0000719 |
Inappropriate behavior |
— |
— |
HP:0031466 |
| HPO |
HP:0000720 |
Mood swings |
"An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] |
— |
HP:0100851 |
| HPO |
HP:0000721 |
Lack of spontaneous play |
— |
— |
HP:0000708 |
| HPO |
HP:0000722 |
Obsessive-compulsive behavior |
"Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)." [HPO:probinson] |
— |
HP:0000708 |
| HPO |
HP:0000723 |
Restrictive behavior |
"Behavior characterized by an abnormal limitation to few interests and activities." [HPO:probinson] |
— |
HP:0000729 |
| HPO |
HP:0000725 |
Psychotic episodes |
— |
— |
HP:0000709 |
| HPO |
HP:0000726 |
Dementia |
"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] |
— |
HP:0001268 |