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Metadata
ID DOID:0061160
Name infantile onset multisystem autoimmune disease 1
Definition An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21.
https://pubmed.ncbi.nlm.nih.gov/25359994/
Xrefs

MIM:615952

Parent Relationships

is_a autosomal dominant disease

is_a infantile onset multisystem autoimmune disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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