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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018814

has related synonym

immunodeficiency 12

IMD12

id

MONDO:0014197

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014197

Term relations