Phenotypes associated with the disease Hirschsprung disease-type D brachydactyly syndrome (ORPHA:2150):
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2150)
- Aplastic/hypoplastic toenail (HP:0010624): Absence or underdevelopment of the toenail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2150)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2150)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2150)
- Short distal phalanx of the thumb (HP:0009650): Hypoplastic (short) distal phalanx of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2150)
- Short phalanx of hallux (HP:0010111): Underdevelopment (hypoplasia) of a phalanx of big toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2150)