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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
- Mondo Disease Ontology
- ORDO
- OMIM
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 |
