Phenotypes associated with the disease thumb deformity (OMIM:188100, an entry in Online Mendelian Inheritance in Man):
- Aplasia/Hypoplasia of the thumb (HP:0009601, a Human Phenotype Ontology term): Hypoplastic/small or absent thumb. Evidence: IEA. (OMIM:188100)
- Abnormality of the cardiovascular system (HP:0001626, a Human Phenotype Ontology term): Any abnormality of the cardiovascular system. Evidence: IEA. (OMIM:188100)
- 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:188100)