Disease #00160

Official abbreviation IMDI
Name immunodeficiency, isolated (IMDI)
OMIM ID 300584
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene IKBKG
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00016407 - - - M ? Italy - - 0 - - IMDI recurrent fever, hepatosplenomegaly, intractable inflammatory colitis (crohn like) XIAP XIAP 1 1 Martina Girardelli
00079883 - PubMed: Huck 2009 - F - - - - 0 - - IMDI - ITK ITK 1 1 Jelena Čalyševa
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