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Osteogenesis Imperfecta Type II phenotype evidence notes

Scope: phenotype-only revision for issue #1503.

PMID-backed phenotype set added or strengthened in kb/disorders/Osteogenesis_Imperfecta_Type_II.yaml:

  • HP:0005855 Multiple prenatal fractures: supported by prenatal type IIA case-series evidence (PMID:9622170).
  • HP:0004349 Reduced bone mineral density: supported by the same prenatal series phrase describing diffuse hypomineralization (PMID:9622170).
  • HP:0002983 Micromelia: supported by the original phenotype delineation of lethal OI type II (PMID:6702894).
  • HP:0006367 Crumpled long bones: supported by abstract-level wording that all OI type II groups have wrinkled/crumpled long bones (PMID:11400945).
  • HP:0006640 Multiple rib fractures: chosen instead of obsolete Beaded ribs; abstract evidence explicitly ties rib beading to repeated fracturing (PMID:11400945).
  • HP:0001591 Bell-shaped thorax: supported by prenatal CT in a genetically confirmed type II case (PMID:37188488).
  • HP:0005474 Decreased calvarial ossification: supported by the same prenatal CT report (PMID:37188488).
  • HP:0002089 Pulmonary hypoplasia: supported by pathology-confirmed clinical evidence (PMID:2803853).
  • HP:0002093 Respiratory insufficiency: supported by immediate postnatal respiratory distress/failure in type IIA (PMID:26401205).
  • HP:0000592 Blue sclerae and HP:0000963 Thin skin: supported by a type IIA pathology study abstract (PMID:3041395).

Claims softened or removed:

  • Replaced the unsupported broad rib term with Multiple rib fractures because Beaded ribs is obsolete in current HPO.
  • Replaced Wormian bones with Decreased calvarial ossification because I did not find abstract-level PMID support for wormian bones that would pass local reference validation.
  • Softened dark sclerae to the directly supported blue sclerae.