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loading...| Preferred Name |
Majeed Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119058 |
| ALT_DEFINITION |
An autoinflammatory disease caused by mutations in the LPIN2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis. |
| code |
C119058 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
An autoinflammatory disease caused by mutations in the LPIN2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis. |
| FULL_SYN |
Majeed Syndrome |
| label |
Majeed Syndrome |
| Preferred_Name |
Majeed Syndrome |
| prefixIRI |
Thesaurus:C119058 |
| prefLabel |
Majeed Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1864997 |
| subClassOf |
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