Home / Deep Research / Pycnodysostosis

Pycnodysostosis

Question

Codex MONDO:0009940 Model: gpt-5

Question

Make the phenotype section of kb/disorders/Pycnodysostosis.yaml as complete and evidence-backed as possible using exact PMID-supported phenotype evidence, while avoiding an unrelated broad rewrite.

Selected PMID-backed phenotype evidence

  • PMID:8703060 Foundational clinical description supporting generalized osteosclerosis and short stature.
  • PMID:21569238 Review of 159 reported patients supporting the typical core phenotype set of short stature, increased bone density with pathologic fractures, and open fontanels/sutures.
  • PMID:11474477 Eight-child cohort supporting delayed fontanel closure, obtuse mandibular angle, delayed tooth eruption, enamel hypoplasia, clavicular dysplasia, proptosis, and nail dysplasia.
  • PMID:28576543 Eight-patient ENT series supporting brachydactyly/short digits, blue sclerae, midfacial hypoplasia, micrognathia, proptosis, malocclusion, and sleep apnea.
  • PMID:38532649 Dedicated oro-dental cohort supporting dental crowding and dental malocclusion.
  • PMID:40523612 Systematic review of 69 reported patients supporting frontal bossing, unclosed cranial sutures, midfacial hypoplasia, micrognathia, obtuse gonial angle, and severe dental crowding.

Curation decisions

  • Replaced the overly broad HP:0011002 Osteopetrosis mapping with HP:0005789 Generalized osteosclerosis.
  • Split the prior broad open-fontanelle claim into Delayed closure of the anterior fontanelle and Delayed cranial suture closure.
  • Added only phenotypes directly named in abstracts or abstract result lines.
  • Kept phenotype ontology terms specific but avoided terms that were more specific than the abstract wording could safely support.
  • Omitted frequency: and structured onset: annotations because the available quantitative signals were cohort- or review-specific and not clean whole-disease estimates.