National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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.

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118468

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

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

Semantic_Type

Disease or Syndrome

UMLS_CUI

C1864997

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119050

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