Phenotypes associated with the disease Ollier disease (OMIM:166000):
- Abnormal long bone morphology (HP:0011314): An abnormality of size or shape of the long bones. Evidence: TAS. (OMIM:166000)
- Chondrosarcoma (HP:0006765): A slowly growing malignant neoplasm derived from cartilage cells. Evidence: TAS. (OMIM:166000)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: TAS. (OMIM:166000)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. (OMIM:166000)
- Multiple enchondromatosis (HP:0005701). Evidence: TAS. (OMIM:166000)