Search Phenotypes

Horn colour

No summary available.

OMIA ID: 2424Inheritance: N/ACharacterised: NoYear: N/A

Horn fly, resistance/susceptibility

No summary available.

OMIA ID: 2429Inheritance: N/ACharacterised: NoYear: N/A

Horner syndrome

No summary available.

OMIA ID: 1197Inheritance: N/ACharacterised: NoYear: N/A

Horse rump (redundant)

No summary available.

OMIA ID: 484Inheritance: N/ACharacterised: NoYear: N/A

Hydrallantois

Information relating to Hydrallantois due to SLC12A1 variants is now listed under: OMIA:002444-9913 : Hydrallantois, SLC12A1-related in Bos taurus

OMIA ID: 2053Inheritance: N/ACharacterised: NoYear: N/A

Hydrallantois, SLC12A1-related — Information relating to this phene was previously listed under: OMIA 002053-9913 : Hydr...

Exome sequencing by Sasaki et al. (2016) within the candidate region (see Mapping section) revealed a likely causal missense variant: g.62382825G > A, p.Pro372Leu) in exon 10 of solute carrier family 12, member 1 (SLC12A1).

OMIA ID: 2444Inheritance: As reported by Sasaki et al. (2016): "Although the incidence of hydrallantois...Characterised: YesYear: 2016

Hydranencephaly

No summary available.

OMIA ID: 486Inheritance: N/ACharacterised: NoYear: N/A

Hydrocephalus — Neuropathic hydrocephalus; water head

No summary available.

OMIA ID: 487Inheritance: 5Characterised: YesYear: N/A

Hydrocephalus, internal

No summary available.

OMIA ID: 489Inheritance: N/ACharacterised: NoYear: N/A

Hydrops foetalis — Dropsy

No summary available.

OMIA ID: 493Inheritance: 5Characterised: NoYear: N/A

Hymen, imperforate — White heifer disease

No summary available.

OMIA ID: 1107Inheritance: N/ACharacterised: NoYear: N/A

Hyperbilirubinaemia, generic

No summary available.

OMIA ID: 495Inheritance: N/ACharacterised: NoYear: N/A

Hyperekplexia, GLRA1-related — inherited myoclonus; congenital myoclonus; neuraxial (o)edema

By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans and mice), Pierce et al. (2001) identified a causal mutation as a "a cytidine to adenine transversion at position 156 of the Glra1 gene (156C>A). The 156A allele is predicted to substitute a termination codon for a tyrosine codon (Y24*) in exon 2 . . . This substitution is predicted to result in a prematurely truncated protein that...

OMIA ID: 689Inheritance: 5Characterised: YesYear: 2001

Hyperextension, lower limb

No summary available.

OMIA ID: 1412Inheritance: N/ACharacterised: NoYear: N/A

Hyperhidrosis

No summary available.

OMIA ID: 1231Inheritance: N/ACharacterised: NoYear: N/A