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Atelosteogenesis Type I phenotype curation issue 1479 2026 04 24

Issue

Enhance the phenotype section for kb/disorders/Atelosteogenesis_Type_I.yaml without broadening into a full-page rewrite.

PMID-backed phenotype evidence used

  • PMID:24624349
  • Abstract support: severe short-limbed dwarfism; dislocated hips, knees, and elbows.

  • YAML use: Disproportionate Short-Limb Short Stature, Joint Dislocation.

  • PMID:23401428

  • Abstract support: severe rhizomelic shortening of the extremities, pectus excavatum, broad thumbs, brachydactyly, dislocated hips, bilateral talipes equinovarus.
  • Abstract support: facial features included proptosis, hypertelorism, downslanting palpebral fissures, cleft palate, and retromicrognathia.

  • YAML use: Rhizomelia, Talipes Equinovarus, Brachydactyly, Broad Thumb, Pectus Excavatum, Proptosis, Hypertelorism, Downslanting Palpebral Fissures, Micrognathia, Cleft Palate.

  • PMID:16752402

  • Abstract support: vertebral abnormalities, disharmonious skeletal maturation, hypoplastic long bones, and joint dislocations in AOI/AOIII.

  • YAML use: retained vertebral phenotype support and kept the phenotype block grounded in a multi-patient FLNB series rather than single-case reports alone.

  • PMID:12454961

  • Abstract support: absent or deficient ossification of the posterior neural arches of the thoracic spine, humeri, radii, ulnae, fibulae, and short tubular bones; extremely short, thick femora; pulmonary hypoplasia; laryngeal stenosis; large cisterna magna.

  • YAML use: strengthened Abnormality of the Vertebral Column, retained Fibular Aplasia, retained Pulmonary Hypoplasia.

  • PMID:9779808

  • Abstract support: incomplete ossification of cartilage anlagen; pulmonary hypoplasia as a characteristic finding; severe subglottic hypoplasia and tracheomalacia.
  • YAML use: added recurrent support for Pulmonary Hypoplasia; added Tracheomalacia.

Claims intentionally not added as standalone AOI phenotypes

  • Hitchhiker thumbs, midfacial flattening, renal microcysts, abnormal pancreatic duct branching, caecal malrotation, and retinal dysplasia were left out because the support was isolated to small autopsy series or appeared as overlap findings rather than clearly grounded core AOI manifestations for this issue.

  • Large cisterna magna was not added because it is currently supported by a single prenatal case report and did not appear strong enough to elevate into the main AOI phenotype block for this focused curation pass.

  • Airway narrowing terms more specific than Tracheomalacia were not added in YAML because the abstract evidence was strongest for tracheomalacia, while laryngeal/subglottic narrowing language was less straightforward to ground to a single specific HPO term without risking ontology mismatch.

Curation approach

  • Prefer phenotype terms already used elsewhere in the repo when they fit the literature cleanly.
  • Avoid adding frequency or structured onset because the AOI literature used here did not provide robust quantitative phenotype frequencies, and the phenotype evidence was mostly fetal/newborn case material rather than cohort-level onset summaries.
  • Soften wording for single-series findings by describing them as reported or documented rather than universal hallmarks.
  • Keep non-phenotype sections minimal in this issue-specific pass; treatment claims without direct treatment evidence were removed rather than supported indirectly with pathology snippets.