- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: IEA. (OMIM:306980)
- Type D brachydactyly (HP:0005627): This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. Evidence: IEA. (OMIM:306980)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:306980)
These phenotypes are associated with the disease Hirschsprung disease-type D brachydactyly syndrome (OMIM:306980).