achondrogenesis type II


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achondrogenesis type II

[MIM*200610]
achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q.

a·chon·dro·gen·e·sis type II

(ā-kon-drō-jen'ĕ-sis tīp)
Achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q.
Synonym(s): Langer-Saldino syndrome.