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Metadata
ID DOID:0060915
Name proteosome-associated autoinflammatory syndrome 4
Definition A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11.
https://pubmed.ncbi.nlm.nih.gov/30664889/
Xrefs

MIM:619183

Synonyms

PRAAS4 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a proteosome-associated autoinflammatory syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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