loading...| Preferred Name | CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 3 | |
| Synonyms |
CMO CRMO3 OSTEOMYELITIS, CHRONIC MULTIFOCAL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/259680 |
|
| altLabel |
CMO CRMO3 OSTEOMYELITIS, CHRONIC MULTIFOCAL |
|
| cui |
C0410422 |
|
| Gene Locus |
2q12 |
|
| Gene Symbol |
IL1RA CRMO3 IL1R1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU076583 http://purl.bioontology.org/ontology/OMIM/MTHU076585 http://purl.bioontology.org/ontology/OMIM/MTHU076584 http://purl.bioontology.org/ontology/OMIM/MTHU076579 http://purl.bioontology.org/ontology/OMIM/MTHU005592 http://purl.bioontology.org/ontology/OMIM/MTHU052783 http://purl.bioontology.org/ontology/OMIM/MTHU076581 http://purl.bioontology.org/ontology/OMIM/MTHU024710 http://purl.bioontology.org/ontology/OMIM/MTHU076580 http://purl.bioontology.org/ontology/OMIM/MTHU051333 http://purl.bioontology.org/ontology/OMIM/MTHU072459 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU076586 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
259680 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 3 |
|
| Scope Statement |
Onset in early childhood [MISCELLANEOUS] One patient with an IL1R1 mutation has been reported (last curated July 2023) [MISCELLANEOUS] De novo mutation [MISCELLANEOUS] Caused by mutation in the interleukin 1 receptor, type I gene (IL1R1, 147810.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |