| 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 | |
| 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 |