- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: TAS. (OMIM:102400)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: TAS. (OMIM:102400)
- Osteolytic defects of the phalanges of the toes (HP:0010177). Evidence: TAS. (OMIM:102400)
- 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:102400)
These phenotypes are associated with the disease acroosteolysis (OMIM:102400).