Atelosteogenesis Type II phenotype curation notes

Date: 2026-04-19 Curator: Codex Scope: phenotype section only for kb/disorders/Atelosteogenesis_Type_II.yaml

Sources used

PMID:20301493, SLC26A2-Related Atelosteogenesis.
PMID:1279661, Atelosteogenesis type II: sonographic and radiological correlation.
PMID:3799721, de la Chapelle dysplasia.
PMID:7632220, De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].

Added Micromelia from PMID:1279661.
Added Midface retrusion, Epicanthus, Ulnar deviation of the hand or of fingers of the hand, and Sandal gap from PMID:20301493.
Added Coronal cleft vertebrae and Cervical kyphosis from PMID:1279661.
Added Bowing of the long bones and Laryngeal stenosis from PMID:3799721.
Softened unsupported wording such as hallmark, commonly, and frequent in free-text descriptions where the cited abstracts did not make a frequency claim.

Protuberant abdomen is present in the GeneReviews text, but I did not add it because I did not confirm a clean, repo-validated HPO mapping during this pass.
Metaphyseal and epiphyseal abnormalities, horizontal sacrum, and additional ossification centres in the pelvis are clearly described in PMID:1279661, but I did not add them without a more confident term choice.
Ulna/fibula hypoplasia is described in PMID:3799721, but the abstract wording supports severe reduction rather than a clean absent-versus-hypoplastic distinction, so I left it out rather than overstate the ontology mapping.

No new frequency values were added.
No onset values were added.
Although prenatal detection is reported in PMID:1279661, I left onset unset because the abstracts here more clearly support prenatal detectability than a disease-wide onset annotation policy for individual phenotypes.