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Scottish Deerhound — Also known as pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)

companion_breed_health_scottish_deerhound_also_known_as_pseudoachondroplastic_dysplasia_dog

companion-breed-health en

--- license: permission_granted topic_id: companion_breed_health_scottish_deerhound_also_known_as_pseudoachondroplastic_dysplasia_dog category: companion-breed-health title: "Scottish Deerhound — Also known as pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/scottish_deerhound_also_known_as_pseudoachondroplastic_dysplasia_3447.txt date_parsed: 2026-08-02 tokens_estimated: 128 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_scottish_deerhound_also_known_as_pseudoachondroplastic_dysplasia_dog/01_companion_breed_health_scottish_deerhound_also_known_as_pseudoachondroplastic_dysplasia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Scottish Deerhound — Also known as pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001315/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Scottish Deerhound — Also known as pseudoachondroplastic dysplasia (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: Scottish Deerhound (Dog)
  • Disorder: Also known as pseudoachondroplastic dysplasia
  • Mode of inheritance: Stevens (1999) provided evidence for autosomal recessive inheritance in Scottish deerhounds.
  • Summary: For information on osteochondrodysplasia / pseudoachondroplastic dysplasia due to SLC13A1 variants (in Miniature Poodles) see OMIA 001400-9615 : Chondrodysplasia, SLC13A1-related in Canis lupus familiaris
  • Defect: yes

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features.. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article
  • 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs.. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article
  • 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds.. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article
  • 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article
  • 1959. Familial canine chondrodysplasia faetalis (achondroplasia).. J Pathol Bacterio — OMIA Phene_Article / Article
  • 1966. Two cases of epiphyseal dysplasia.. Veterinary Record — OMIA Phene_Article / Article
  • 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article
  • 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — 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:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:222600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article
  • 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article
  • 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article
  • 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article
  • 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article
  • 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article
  • 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article
  • 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — 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:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:222600 (type: trait) — 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.

  • 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article
  • 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article
  • 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article
  • 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article
  • 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article
  • 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article
  • 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article
  • 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — 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:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:222600 (type: trait) — 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.

  • 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article
  • 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article
  • 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article
  • 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article
  • 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article
  • 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article
  • 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article
  • 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — 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:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:222600 (type: trait) — 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.

  • 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article
  • 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article
  • 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article
  • 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article
  • 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article
  • 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article
  • 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article
  • 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — 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:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:222600 (type: trait) — 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."

Sources

Scottish Deerhound — Also known as pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 6987200

Machine access

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