Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI)

Spondyloenchondrodysplasia with Immune Dysregulation(来自ICD-11)

别称:

Spondyloenchondrodysplasia

Spencd

Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia

Spencdi

Spondylometaphyseal Dysplasia with Enchondromatous Changes

Roifman Immunoskeletal Syndrome

Spondyloenchondromatosis

Spondyloenchondrodysplasia, with Immune Dysregulation

Roifman-Melamed Syndrome

Roifman-Costa Syndrome

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondyloenchondrodysplasia with Immune Dysregulation, also known as spondyloenchondrodysplasia, is related to metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria and bone dysplasia azouz type, and has symptoms including muscle spasticity An important gene associated with Spondyloenchondrodysplasia with Immune Dysregulation is ACP5 (Acid Phosphatase 5, Tartrate Resistant). Affiliated tissues include bone and thyroid, and related phenotypes are platyspondyly and metaphyseal dysplasia

查看原文参与反馈