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Metadata
ID DOID:0061191
Name neonatal nephrocutaneous inflammatory syndrome
Definition An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.
https://pubmed.ncbi.nlm.nih.gov/36017778/
Xrefs

MIM:616069
Synonyms

neonatal inflammatory skin and bowel disease 2 [EXACT]
Parent Relationships

is_a autoinflammatory disease

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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