Search Phenotypes

Double-outlet right ventricle

By whole-genome sequencing of a trio of affected offspring, sire and dam, Jacinto et al. (2022) "identified two heterozygous private protein-changing variants present exclusively in the genome of the affected calf and absent in both parental genomes as well as in 5365 controls . . . . Only one of these variants was in a putative candidate gene for the observed phenotype. This heterozygous variant at chr10:84751870G>A (NM_001101951.1: c.416C...

OMIA ID: 2556Inheritance: 3Characterised: YesYear: 2022

Glycogen storage disease V — Myophosphorylase deficiency

The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.

OMIA ID: 1139Inheritance: As reported by Angelos et al. (1995), six calves from a single Charolais herd...Characterised: YesYear: 1996