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Metadata
ID DOID:0112134
Name severe congenital neutropenia 6
Definition A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
https://pubmed.ncbi.nlm.nih.gov/25129144/
Xrefs

MIM:616022

ORDO:423384

Subsets

DO_rare_slim

Synonyms

autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [EXACT]

SCN6 [EXACT]

Parent Relationships

is_a severe congenital neutropenia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

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