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← Disease database

Shwachman-Diamond syndrome 1

A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.

Therapeutic area
Rare Disease
Rarity
Rare
Prevalence
~100k patients (est.)
MONDO
MONDO:0044204

Overview

A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.

Content last reviewed: 2026-06