Mixed Breed — Glycogen storage disease IV (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: Mixed Breed (Dog)Disorder:Clin feat: Jolly et al. (2002) reported that The nature, distribution and histochemistry of lesions observed [in a mixed-breed dog] are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs.Defect: yes
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 2002. Polyglucosan body disease in a mixed-breed dog.. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article
- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models.. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.
- OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article
- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.
- OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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.
- 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article
- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
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.
- OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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."
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.
- 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article
- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
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.
- OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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."
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.
- 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article
- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
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.
- OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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."