Desbuquois Dysplasia

Alias:

Desbuquois Syndrome

Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification

Dysplasia, Desbuquois

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Desbuquois Dysplasia, also known as desbuquois syndrome, is related to desbuquois dysplasia 1 and diastrophic dysplasia. An important gene associated with Desbuquois Dysplasia is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include bone and bone marrow, and related phenotypes are limbs/digits/tail and growth/size/body region

Related ID：

MALACARDS：DSB002

MESH：C535943