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 syndrome

a·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.

单词	achondrogenesis type ib
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 syndrome a·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.
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