| 释义 |
achondrogenesis type II achondrogenesis type II [MIM*200610] achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q. Synonym(s): Langer-Saldino syndromea·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. |