Phenotypes associated with the disease triphalangeal thumb with double phalanges (OMIM:190500):
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: IEA. (OMIM:190500)
- Complete duplication of distal phalanx of the thumb (HP:0009606): Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. Evidence: IEA. (OMIM:190500)
- 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:190500)