Search Ontology:
Human Disease
X-linked severe congenital neutropenia
- Term ID
- DOID:0112128
- Synonyms
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- SCNX
- XLN
- 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/
- References
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- GARD:3981
- MESH:C564539
- MIM:300299
- NCI:C176818
- ORDO:86788
- SNOMEDCT_US_2023_03_01:718882006
- UMLS_CUI:C1845987
- Ontology
- Human Disease ( DOID:0112128 )
- is a type of
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Genes Involved
Zebrafish Models