Metadata | |
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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/ |
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Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |