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loading...| Preferred Name |
EOSINOPHIL PEROXIDASE DEFICIENCY |
| Synonyms |
EPXD |
| ID |
http://purl.bioontology.org/ontology/OMIM/261500 |
| altLabel |
EPXD PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL PRESENTEY ANOMALY |
| cui |
C1850000 |
| Gene Locus |
17q23.1 |
| Gene Symbol |
EPXD EPX |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU049092 http://purl.bioontology.org/ontology/OMIM/MTHU049094 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
261500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EOSINOPHIL PEROXIDASE DEFICIENCY |
| Scope Statement |
Caused by mutation in the eosinophil peroxidase gene (EPX, 131399.0001) [MOLECULAR BASIS] No clinical manifestations [MISCELLANEOUS] |
| tui |
T047 |