Search Phenotypes

Dyplasias with multiple joint dislocations

Jacinto et al. (2025) used a whole genome sequencing approach to investigate suspected inherited skeletal disorders in sheep and cattle. In the group of dysplasias with multiple joint dislocation several variants of interest were identified which may be disease causing:A stillborn Holstein calf with craniofacial dysmorphisms, and forelimb skeletal dysplasia was heterozygous for a CCT3 missense variant (Chr3:g.14497551 T > C; c.907 T > C;...

OMIA ID: 3024Inheritance: N/ACharacterised: NoYear: N/A

Ear size

Shen et al. (2023) investigated ear size in Bos taurus, Bos indicus and hybrids. "Results showed that the ear size of breeds followed the order: Bos indicus > hybrid (Yunling) and Chinese indicine (Wenshan and Dabieshan cattle) cattle > Bos taurus ..."

OMIA ID: 1579Inheritance: N/ACharacterised: NoYear: N/A

Ears, crop — Notched ears; Nicked ears

Koch et al. (2013) suggested the following nomenclature: CE-0 for homozygous wild type; CE-1 for heterozygotes; and CE-2 for homozygous duplication.

OMIA ID: 317Inheritance: In the original report, Yamane (1915) provided pedigree evidence that implied...Characterised: YesYear: 2013

Ears, double

No summary available.

OMIA ID: 318Inheritance: N/ACharacterised: NoYear: N/A

Ectrodactyly

No summary available.

OMIA ID: 324Inheritance: N/ACharacterised: NoYear: N/A

Ectromelia

No summary available.

OMIA ID: 1126Inheritance: N/ACharacterised: NoYear: N/A

Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan — This bovine "variant form of Ehlers-Danlos syndrome" reported by Tajima et al. 1999 doe...

Tajima et al. (1999) reported a Holstein calf with clinical features very similar to the human disorder that is now called Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1; EDSSPD1 (OMIM 130070). Noting that this human disorder had been attributed by Quentin et al. (1990) to a deficiency of dermatan sulfate proteoglycan, Tajima et al. (1999) sequenced the most likely candidate region of what they thought to be (see below) the homologous bovi...

OMIA ID: 1716Inheritance: 11Characterised: NoYear: N/A

Encephalomyelopathy, multifocal symmetrical necrotising, Angus

The creation of this OMIA entry is based on information provided by PA Windsor, AE Kessell and JW Finnie

OMIA ID: 1488Inheritance: N/ACharacterised: NoYear: N/A

Encephalomyelopathy, multifocal symmetrical necrotising, Limousin

The creation of this OMIA entry is based on information provided by PA Windsor, AE Kessell and JW Finnie

OMIA ID: 1489Inheritance: N/ACharacterised: NoYear: N/A

Encephalomyelopathy, multifocal symmetrical necrotising, Simmental

The creation of this OMIA entry is based on information provided by PA Windsor, AE Kessell and JW Finnie

OMIA ID: 1490Inheritance: N/ACharacterised: NoYear: N/A

Endocardial fibroelastosis

No summary available.

OMIA ID: 1803Inheritance: N/ACharacterised: NoYear: N/A

Endometritis, susceptibility to

No summary available.

OMIA ID: 2568Inheritance: 10Characterised: NoYear: N/A

Entropion

No summary available.

OMIA ID: 337Inheritance: N/ACharacterised: NoYear: N/A

Enzootic bovine leukosis, resistance/susceptibility to — Bovine leukemia virus (BLV) infection

No summary available.

OMIA ID: 2678Inheritance: 10Characterised: NoYear: N/A

Epidermal dysplasia

No summary available.

OMIA ID: 338Inheritance: N/ACharacterised: NoYear: N/A