Search Ontology:
Human Disease
severe congenital neutropenia 6
- Term ID
- DOID:0112134
- Synonyms
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- autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- SCN6
- 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/
- References
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- MIM:616022
- ORDO:423384
- Ontology
- Human Disease ( DOID:0112134 )
- is a type of
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Zebrafish Models