Diaphanospondylodysostosis (DSD)

Alias:

Vertebral Ossification, Defect in, with Nephrogenic Rests

Defect in Vertebral Ossification with Nephrogenic Rests

Dsd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Diaphanospondylodysostosis, also known as vertebral ossification, defect in, with nephrogenic rests, is related to 46,xy disorder of sex development and 46,xx sex reversal 1. An important gene associated with Diaphanospondylodysostosis is BMPER (BMP Binding Endothelial Regulator). Affiliated tissues include bone and liver, and related phenotypes are short neck and short thorax

Related ID：

MALACARDS：DPH019

OMIM：608022

MESH：D004413