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Disease association ontology term - MONDO:0044204 - Shwachman-Diamond syndrome 1

Term summary

ID
MONDO:0044204
Name
Shwachman-Diamond syndrome 1
Ontology or CV name
Disease association
Definition
A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.

Parents

Annotation

Disease association

MONDO:0044204 - Shwachman-Diamond syndrome 1

References:

Genes: