| 释义 |
achondrogenesis type IB achondrogenesis type IB [MIM*600972] achondrogenesis with severely disorganized intracartilaginous ossification; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q. Synonym(s): Parenti-Fraccaro syndromea·chon·dro·gen·e·sis type IB (ā-kon-drō-jen'ĕ-sis tīp) Achondrogenesis with severely disorganized intracartilaginous ossification; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.
Synonym(s): Parenti-Fraccaro syndrome. |