Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [EXACT] SCN6 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |