Phenotypes associated with the disease peripheral dysostosis (OMIM:170700, an entry in Online Mendelian Inheritance in Man):
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230, a Human Phenotype Ontology term): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: IEA. (OMIM:170700)
- Hip osteoarthritis (HP:0008843, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:170700)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:170700)
- Short phalanx of finger (HP:0009803, a Human Phenotype Ontology term): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:170700)