Severe Congenital Neutropenia 8
Disease ID: disease_node_18062
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| Dbxref | MIM:618752 |
|---|---|
| Subclassof | DOID_0112130 |
| Data Source | DOID |
| Synonyms | SCN8, SDSL, Shwachman-Diamond syndrome-like, autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities |
| Doid Label | severe congenital neutropenia 8 |
| Doid Description | An autosomal domit severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18062 |
| Doid Id | DOID_0112135 |
| Disease Has Basis In | HP_0001197 |
| Label | Severe Congenital Neutropenia 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Severe Congenital Neutropenia(ID:disease_node_18061) (Disease)