| HPO |
HP:0000661 |
Palpebral fissure narrowing on adduction |
— |
— |
HP:0000581 |
| HPO |
HP:0000662 |
Nyctalopia |
"Inability to see well at night or in poor light." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0000664 |
Synophrys |
"Meeting of the medial eyebrows in the midline." [PMID:19125427] |
— |
HP:0000534, HP:0002219 |
| HPO |
HP:0000666 |
Horizontal nystagmus |
"Nystagmus consisting of horizontal to-and-fro eye movements." [HPO:probinson] |
— |
HP:0000639 |
| HPO |
HP:0000667 |
Phthisis bulbi |
"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:probinson] |
Phthisis bulbi refers to atrophy and degeneration of a blind eye. |
HP:0012372 |
| HPO |
HP:0000668 |
Hypodontia |
"The absence of five or less teeth from the normal series by a failure to develop." [HPO:ibailleulforestier, PMID:31468724] |
Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. |
HP:0009804 |
| HPO |
HP:0000670 |
Carious teeth |
"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [HPO:probinson] |
It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. |
HP:0011061 |
| HPO |
HP:0000674 |
Anodontia |
"The absence of all teeth from the normal series by a failure to develop." [HPO:ibailleulforestier, PMID:31468724] |
Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. |
HP:0009804 |
| HPO |
HP:0000675 |
Macrodontia of permanent maxillary central incisor |
"Increased size of the maxillary central secondary incisor tooth." [HPO:ibailleulforestier] |
— |
HP:0011081 |
| HPO |
HP:0000676 |
Abnormality of the incisor |
"An abnormality of the Incisor tooth." [HPO:probinson] |
— |
HP:0000164 |
| HPO |
HP:0000677 |
Oligodontia |
"The absence of six or more teeth from the normal series by a failure\nto develop." [PMID:19125428, PMID:31468724] |
The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. |
HP:0009804 |
| HPO |
HP:0000678 |
Dental crowding |
"Changes in alignment of teeth in the dental arch" [PMID:19125428, PMID:31468724] |
Overlapping teeth within an alveolar ridge. |
HP:0000692 |
| HPO |
HP:0000679 |
Taurodontia |
"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots." [HPO:ibailleulforestier, PMID:31468724] |
Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. |
HP:0006479, HP:0006486, HP:0011071 |
| HPO |
HP:0000680 |
Delayed eruption of primary teeth |
"Delayed tooth eruption affecting the primary dentition." [HPO:ibailleulforestier] |
— |
HP:0000684, HP:0006481 |
| HPO |
HP:0000682 |
Abnormal dental enamel morphology |
"An abnormality of the dental enamel." [HPO:probinson] |
The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. |
HP:0011061, HP:3000050 |
| HPO |
HP:0000683 |
Grayish enamel |
"A grey discoloration of the dental enamel." [HPO:ibailleulforestier] |
Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. |
HP:0000682, HP:0011073 |
| HPO |
HP:0000684 |
Delayed eruption of teeth |
"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [HPO:ibailleulforestier, PMID:19125428, PMID:31468724] |
This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. |
HP:0006292 |
| HPO |
HP:0000685 |
Hypoplasia of teeth |
"Developmental hypoplasia of teeth." [HPO:ibailleulforestier] |
— |
HP:0011061 |
| HPO |
HP:0000687 |
Widely spaced teeth |
"Increased spaces (diastemata) between most of the teeth in the same dental arch." [PMID:19125428] |
Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. |
HP:0000692 |
| HPO |
HP:0000689 |
Dental malocclusion |
"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724] |
— |
HP:0000692 |
| HPO |
HP:0000690 |
Agenesis of maxillary lateral incisor |
"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [HPO:ibailleulforestier] |
— |
HP:0200153, HP:0200160 |
| HPO |
HP:0000691 |
Microdontia |
"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, PMID:19125428] |
Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. |
HP:0006482 |
| HPO |
HP:0000692 |
Tooth malposition |
"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [HPO:ibailleulforestier] |
— |
HP:0000164 |
| HPO |
HP:0000694 |
Odontodysplasia |
"The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [HPO:ibailleulforestier] |
— |
HP:0000703 |
| HPO |
HP:0000695 |
Natal tooth |
"A tooth present at birth or erupting within the first month of life." [PMID:19125428, PMID:31468724] |
A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation. |
HP:0006288 |