| 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] |
Show
|
| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
Show
|
| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
Show
|
| HP:0000196 | Lower lip pit | "Depression located on the vermilion of the lower lip, usually paramedian." [pmid:19125428] |
Show
|
| HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
Show
|
| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
Show
|
| HP:0000674 | Anodontia | "The congenital absence of all teeth." [HPO:curators] |
Show
|
| HP:0008376 | Nasal, dysarthic speech | |
Show
|
| HP:0010286 | Abnormality of the salivary glands | "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:curators] |
Show
|
| HP:0011819 | Submucous cleft soft palate | "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson] |
Show
|
| HP:0410030 | Cleft lip | "A gap in the lip or lips." [] |
Show
|
