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Majeed syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.
Uniprot Description An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).
Mondo Term and Equivalent IDs
MONDO:0012316:  Majeed syndrome
GARD:0010088: 
MESH:C537839: 
NCIT:C119058: 
Orphanet:77297: 
SCTID:703540008: 
UMLS:C1864997: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found