combined immunodeficiency due to MALT1 deficiency
Go to external page http://purl.obolibrary.org/obo/MONDO_0014197
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. [ Orphanet:397964 ]
Synonyms: immunodeficiency type 12 combined immunodeficiency due to MALT1 deficiency
Term information
- Orphanet:397964 (OMIM:615468)
- GARD:17647 (Orphanet:397964)
- DOID:0111988 (MONDO:equivalentTo)
- UMLS:C3809583 (OMIM:615468)
- OMIM:615468 (Orphanet:397964/e)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://omim.org/entry/615468
http://www.orpha.net/ORDO/Orphanet_397964
http://purl.obolibrary.org/obo/DOID_0111988
http://linkedlifedata.com/resource/umls/id/C3809583