HPO terms relationship with OMIM:616580

[springnar]

On the page of OMIM:616580 (https://hpo.jax.org/browse/disease/OMIM:616580), [HP:0001195] Single umbilical artery, [HP:4000105] Abnormal four chamber view of the fetal heart were shown with relationship.
However, when reading the source papers (PMID: 26173930), the two phenotype were not found.
I would appreciate it if you could answer my doubt.
Thank you.

[pnrobinson]

The finding of [HP:0001195] Single umbilical artery is from this description (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589226/)

Proband 1 was born to a 33-year-old G3P2 mother and 33-year-old father after an uncomplicated healthy pregnancy. However, prenatal ultrasound identified a two vessel cord and a cardiac septal defect with pericardial effusion. Amniocentesis revealed a normal male karyotype. He was delivered via caesarean for breech presentation at 37 weeks gestation due to preterm labor, and had respiratory distress for 2-3 days. Birthweight was 3.03kg (50th centile), length 47 cm (10-50th centile), and head circumference 32.5 cm (10-50th centile).

Most cords have one vein and two arteries (three blood vessels). Therefore, two-vessel cord is a synonym of Single umbilical artery.

[pnrobinson]

proband 1 had a prenatal diagnosis of a cardiac septal defect, which implies the Abnormal four chamber view of the fetal heart.

[springnar]

thank you for the detail response.