| Metadata | |
|---|---|
| ID | DOID:0112128 |
| Name | X-linked severe congenital neutropenia |
| Definition | A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. https://pubmed.ncbi.nlm.nih.gov/11242115/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:718882006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
SCNX [EXACT] XLN [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance disease has basis in some Abnormality of prenatal development or birth |