Details of Disease | DrugMAP

General Information of Disease (ID: DISHVJG8)

Disease Name	Shwachman-Diamond syndrome 2
Synonyms	SDS2; Shwachman-Diamond syndrome 2
Definition	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).
Disease Hierarchy	DISW57NW: Shwachman-Diamond syndrome DISHVJG8: Shwachman-Diamond syndrome 2
Disease Identifiers	MONDO ID MONDO_0044205 UMLS CUI C4693704 OMIM ID 617941 MedGen ID 1634617

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFL1	OTMEXJZA	Moderate	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.