| HPO |
HP:0000202 |
Oral cleft |
"The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson, PMID:21331089] |
— |
HP:0000163 |
| HPO |
HP:0006344 |
Abnormality of primary molar morphology |
"An abnormality of morphology of primary molar." [HPO:ibailleulforestier] |
— |
HP:0006481, HP:0011070 |
| HPO |
HP:0012472 |
Eclabion |
"A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0005216 |
Impaired mastication |
"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing." [PMID:23713640] |
Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia. |
HP:0031815 |
| 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:0006342 |
Peg-shaped maxillary lateral incisors |
"A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter" [HPO:ibailleulforestier, PMID:31468724] |
A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. |
HP:0011065 |
| 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:0006297 |
Enamel hypoplasia |
"Developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier, PMID:18499550, PMID:31468724] |
Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue. |
HP:0000682, HP:0000685 |
| HPO |
HP:0000696 |
Delayed eruption of permanent teeth |
"Delayed tooth eruption affecting the secondary dentition." [HPO:ibailleulforestier] |
— |
HP:0000684 |
| 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: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:0011219 |
Short face |
"Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [PMID:19125436] |
Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. |
HP:0000274 |
| HPO |
HP:0011056 |
Agenesis of first permanent molar tooth |
"Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [HPO:ibailleulforestier] |
— |
HP:0011055 |
| HPO |
HP:0011078 |
Abnormality of canine |
"An abnormality of canine tooth." [HPO:ibailleulforestier] |
— |
HP:0000164 |
| 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:0006289 |
Agenesis of central incisor |
"Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [HPO:ibailleulforestier] |
— |
HP:0006485 |
| 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:0011053 |
Agenesis of mandibular premolar |
"Agenesis of mandibular premolar." [HPO:ibailleulforestier] |
— |
HP:0011051 |
| HPO |
HP:0006336 |
Short dental root |
"Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length." [HPO:probinson, PMID:31468724] |
— |
HP:0040220 |
| HPO |
HP:0005584 |
Renal cell carcinoma |
"A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [HPO:probinson] |
Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. |
HP:0009726 |
| HPO |
HP:0001428 |
Somatic mutation |
"A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation." [] |
This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases. |
HP:0000005 |
| HPO |
HP:0006716 |
Hereditary nonpolyposis colorectal carcinoma |
— |
— |
HP:0002672, HP:0100834 |
| HPO |
HP:0006740 |
Transitional cell carcinoma of the bladder |
"The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell." [HPO:probinson] |
— |
HP:0002862 |
| HPO |
HP:0006753 |
Neoplasm of the stomach |
"A tumor (abnormal growth of tissue) of the stomach." [HPO:probinson] |
— |
HP:0002577, HP:0007378 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"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." [HPO:curators] |
— |
HP:0000005 |