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X-Linked Combined Immunodeficiency Diseases

^ http://www.ebi.ac.uk/efo/EFO_1001451


Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: X-Linked Combined Immunodeficiency Disease, x-linked severe combined immunodeficiency

Term info

OMIM definition citation

OMIM:MTHU009056

SNOMEDCT definition citation

SNOMEDCT:203592006

term editor

Sirarat Sarntivijai

Term relations