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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 |
|---|---|---|---|
| 56994 | CHPT1 | choline phosphotransferase 1 | |
| 57126 | CD177 | CD177 molecule | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit | |
| 83666 | PARP9 | poly(ADP-ribose) polymerase family member 9 | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 | |
| 160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 |
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 |
