- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: IEA. (OMIM:149100)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: IEA. (OMIM:149100)
- 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: IEA. (OMIM:149100)
These phenotypes are associated with the disease knuckle pads (OMIM:149100).