Achondrogenesis Type II phenotype curation notes

Date: 2026-04-18 Target file: kb/disorders/Achondrogenesis_Type_II.yaml Scope: phenotype section only

Validated phenotype-supporting PMIDs used in this pass: - PMID:15054848 supports severe micromelia and early fetal hygroma. - PMID:12124695 supports absent vertebral body ossification as a key prenatal finding. - PMID:17994563 supports short limbs, fetal hygroma, and fetal hydrops with septated cystic hygroma. - PMID:20387359 supports extreme micromelia, small thorax, macrocephaly/large head, polyhydramnios, short neck, and prominent abdomen. - PMID:36376277 supports cystic hygroma with severe limb shortening at 14 weeks. - PMID:41373627 supports micrognathia and hydrops.

Phenotype claims removed or softened in this pass: - Flat face removed because no validator-backed PMID abstract located in this pass stated a flat facial profile directly. - Cleft palate removed because no validator-backed PMID abstract located in this pass stated cleft palate directly. - Short ribs and Pulmonary hypoplasia were not retained as phenotype entries because the locally cached PubMed abstracts available to validate-references did not provide direct quotable support for those claims in this pass; the main disease description was softened to avoid overclaiming beyond the phenotype evidence.

Note on PMID:31523626: - The cached abstract created by just fetch-reference PMID:31523626 is too short to support phenotype-specific snippets, so it was not used for validated phenotype evidence even though the PubMed web view surfaces richer descriptive text.