- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:8968758)
- Total colonic aganglionosis (HP:0011286): A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. Evidence: PCS. Frequency: 1/2. (PMID:8968758)
- 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: PCS. Frequency: 1/1. (PMID:8896568)
- Long-segment aganglionic megacolon (HP:0011285): A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. Evidence: PCS. Frequency: 1/2. (PMID:8968758)
- 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: PCS. (PMID:8968758)
These phenotypes are associated with the disease Hirschsprung disease, susceptibility to, 3 (OMIM:613711).