Search Ontology:
Human Disease

Majeed syndrome

Term ID
DOID:0061224
Synonyms
  • chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis 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/
References
Ontology
Human Disease   ( DOID:0061224 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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