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DO Term : severe congenital neutropenia 4 [DOID:0112136] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.

synonyms:
612541,
SCN4,
Dursun syndrome,
severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome,
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,
OMIM:612541,
ORDO:331176

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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