Phenotypes associated with the disease brachydactyly type D (OMIM:113200):
- Broad distal phalanx of the hallux (HP:0010077): An increase in width of the distal phalanx of the big toe. Evidence: TAS. (OMIM:113200)
- Broad distal phalanx of the thumb (HP:0009642): Increased width of the distal phalanx of thumb. Evidence: TAS. (OMIM:113200)
- Type D brachydactyly (HP:0005627): This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. Evidence: TAS. (OMIM:113200)
- 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:113200)