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severe congenital neutropenia
Summary
- Definition
- A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
- Super Class
- neutropenia physical disorder
External Links
- Disease Ontology
- DOID:0050590
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | |
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
| 54579 | UGT1A5 | UDP glucuronosyltransferase family 1 member A5 | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54659 | UGT1A3 | UDP glucuronosyltransferase family 1 member A3 | |
| 56886 | UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11172 | Uridine 5'-monophosphate synthase | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase | |
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P19835 | Bile salt-activated lipase | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P20815 | Cytochrome P450 3A5 |
