FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term severe congenital neutropenia 6 ID (Ontology) DOID:0112134 (Human Disease)
Definition A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
Also Known As "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" ; "SCN6"
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 Genes
 severe congenital neutropenia 6       1
 for disease ribbon | severe congenital neutropenia 6       1
 model of | severe congenital neutropenia 6       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__severe congenital neutropenia__|
neutropenia                        |
 |__severe congenital neutropenia__|
                                   severe congenital neutropenia 6  1 rec.
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Is a severe congenital neutropenia
autosomal recessive disease
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Synonyms
  • "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" EXACT
    "SCN6" EXACT OMO:0003012
Secondary IDs
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MIM:616022
ORDO:423384