Great Pyrenees — Chondrodysplasia, generic (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Great Pyrenees (Dog)Disorder:Summary: Information previously listed here relating to chondrodysplasia related to FGF4 retrogenes has been moved to '[OMIA:002542-9615] : Chondrodysplasia, FGF4 retrogene-related in Canis lupus familiaris' [22/03/2022]Defect: yes
Causal variant(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article
- 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds.. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article
Causal variant(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article
- 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article
Causal variant(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article
- 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."
Causal variant(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article
- 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."
Causal variant(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article
- 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."