Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
severe congenital neutropenia 4
Summary
- Synonym
-
- Dursun syndrome
- SCN4
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- 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.
- Super Class
- autosomal recessive disease severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112136
- ORDO
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001903 | Anemia |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002093 | Respiratory insufficiency |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002240 | Hepatomegaly |
| HP:0002619 | Varicose veins |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0003198 | Myopathy |
