| Metadata | |
|---|---|
| ID | DOID:0061224 |
| Name | Majeed syndrome |
| Definition | An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11. https://pubmed.ncbi.nlm.nih.gov/33670882/ |
| Xrefs | |
| SKOS |
exactMatch MIM:609628 |
| Synonyms |
chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |