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Add term prominent lesser trochanter #10464

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lisannesw opened this issue Apr 12, 2024 · 1 comment
Closed

Add term prominent lesser trochanter #10464

lisannesw opened this issue Apr 12, 2024 · 1 comment
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@lisannesw
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Preferred term label:
Prominent lesser trochanter

Synonyms
Large trochanter minor

Definition (free text, please give PubMed ID)
Large lesser trochanter.

Comment: prominent lesser trochanters in combination with short femoral necks and medial metaphyseal beaking forms a “monkeywrench” or “Swedish- key” appearance, which is characteristic for Desbuguois dysplasia

Smithson S. (2019). Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development: Fourth Edition, ISBN: 9780190626655. Human Genetics, 138(7), 787. https://doi.org/10.1007/s00439-019-02038-0

Parent term (use hpo.jax.org/app)
Abnormal femoral neck/head morphology HP:0003366

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)
Desbuquois dysplasia 2 (omim615777)
For example, PMID27030147

Your nano-attribution (ORCID)
Andreas Zankl: 0000-0001-8612-1062, @azankl
Lisanne Wit: 0009-0007-1020-5412

@pnrobinson
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@lisannesw
Adding new term:

  • ID: HP:6000816
  • label: Prominent lesser trochanter
  • parents: Abnormal femoral neck/head morphology (HP:0003366)
  • pmid: PMID:27030147
  • def: Abnormally large lesser trochanter.
  • comment: Prominent lesser trochanters in combination with short femoral necks and medial metaphyseal beaking forms a monkeywrench or Swedish- key appearance, which is characteristic for Desbuguois dysplasia .
  • orcid: orcid:0009-0007-1020-5412
  • github ID: Add term prominent lesser trochanter #10464
  • synonyms:

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