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Metadata
ID DOID:0061055
Name immunodeficiency 85
Definition A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.
https://pubmed.ncbi.nlm.nih.gov/31263572/
Xrefs

MIM:619510

Synonyms

immunodeficiency 85 and autoimmunity [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

existence starts during some Pediatric onset

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