Disease #00538 (IMD43 (Immunodeficiency 43), OMIM:241600)

Official abbreviation IMD43
Name Immunodeficiency 43
OMIM ID 241600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene B2M
Associated tissues -
Disease features -
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Individuals

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00019988 - PubMed: Wani 2006, Journal: Wani 2006 2-generation family, 2 affected sibs ? yes United States - - 0 - - IMD43 see paper B2M B2M 1 2 Johan den Dunnen
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