Preferred Name | Majeed Syndrome | |
Synonyms |
Majeed Syndrome |
|
Definitions |
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. |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119058 |
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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 |
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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 |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C1864997 |
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subClassOf |