Gene: IL1B
Cytoband position: 2q14.1
OMIM: 147720
RVIS score: -0.38
RVIS percentage: 27.42
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Cleft palate | HP:0000175 | HP:0410004 | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| Abnormality of upper lip | HP:0000177 | None | An abnormality of the upper lip. |
| Oral cleft | HP:0000202 | None | 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. |
| Cleft upper lip | HP:0000204 | None | A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Cleft lip | HP:0410030 | None | A gap in the lip or lips. |
| Abnormal hard palate morphology | HP:0100737 | None | None |
| Abnormal stomach morphology | HP:0002577 | None | An abnormality of the stomach. |
| Chronic atrophic gastritis | HP:0002582 | None | A form of chronic gastritis associated with atrophic gastric mucous membrane. |
| Neoplasm | HP:0002664 | HP:0006741 | An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). |
| Abnormality of the gastric mucosa | HP:0004295 | None | An abnormality of the gastric mucous membrane. |
| Chronic gastritis | HP:0005231 | None | A chronic form of gastritis. |
| Gastritis | HP:0005263 | None | The presence of inflammation of the gastric mucous membrane. |
| Neoplasm of the stomach | HP:0006753 | None | A tumor (abnormal growth of tissue) of the stomach. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Neoplasm of the gastrointestinal tract | HP:0007378 | None | A tumor (abnormal growth of tissue) of the gastrointestinal tract. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Neoplasm by anatomical site | HP:0011793 | None | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| Stomach cancer | HP:0012126 | None | A cancer arising in any part of the stomach. |
| Morphological abnormality of the gastrointestinal tract | HP:0012718 | None | Abnormal structure of the gastrointestinal tract. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| 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 digestive system morphology | HP:0025033 | None | A structural anomaly of the digestive system. |