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DO Term : Shwachman-Diamond syndrome [DOID:0060479] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.

synonyms:
MESH:C537330,
ICD10CM:D61.0,
Shwachman-Bodian-Diamond syndrome,
GARD:4863,
Shwachman-Diamond type metaphyseal dysplasia,
DOID:0080023,
OMIM:260400,
Shwachman syndrome,
pancreatic insufficiency and bone marrow dysfunction,
260400

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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