Search Ontology:
Human Disease
severe congenital neutropenia 4
- Term ID
- DOID:0112136
- Synonyms
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- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- Dursun syndrome
- SCN4
- severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
- Definition
- A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/19118303/
- References
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- MIM:612541
- ORDO:331176
- Ontology
- Human Disease ( DOID:0112136 )
- is a type of
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Genes Involved
Zebrafish Models