Shwachman-Diamond syndrome 2

MONDO:0044205

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).

Also known as: Shwachman-Diamond syndrome 2, SDS2

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Shwachman-Diamond syndrome (5) Autosomal recessive disease (4) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0) Disease by body system or component (0) Disease by etiologic mechanism (0)

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